tag:blogger.com,1999:blog-590846010012765282024-03-06T12:02:38.593-08:00Claire Unique and Her Siblings TwoMarthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.comBlogger28125tag:blogger.com,1999:blog-59084601001276528.post-87392347359493487672013-04-23T13:54:00.003-07:002013-04-23T19:41:01.708-07:00The Diagnosis(es) is OfficialI haven't blogged in a long time. Partly because there really wasn't any new information to tell and partly because other aspects of my life were more urgent. However, we finally have diagnoses so I think it is time to blog. <br />
So since the last time I blogged in November, we took Claire off milk and dairy completely after her blood work showed she was allergic, and she has stayed remarkably well. Ryan has gained some weight and is starting to eat more. We saw lots of doctors for checkups, the ENT, pulmologist, muscle doctor/specialist, and the geneticist. More blood drawn, more look over, more talk with a nutritionist, more respiratory therapist chats with reminders to do chest percussion therapy (CPT) twice a day with inhalers. The usual for us. :)<br />
However, the geneticist offered us a relatively new test that he was using on his complex patients without a diagnosis to see if something could be found. He had success with some of this other patients with complex unknown diseases and thought we might get some answers this way. It is sequencing the entire genome. All the genes in one's chrosomes. They would take blood from Me, Jonathan, Claire and Ryan. They would compare Claire and Ryan's to each other as well as us and see if there were similarities or differences and give us a report. We all went to the Children's Hospital and had our blood drawn right before Christmas. And then we waited....<br />
And waited....and waited....while the researchers asked for more information. And then on April 1st, I got a call from the genetics counselor saying the results were in. And they had found some "novel genes" that seemed to correlate with and explain the children's symptoms. What are novel genes? New genes, as in that particular pattern of DNA has never been noted before. And Ryan and Claire have the exact same novel gene. As far as science knows they are the only two with it. However, it is important to note than genome sequencing is a relatively new science and we don't have everyone in the entire world mapped yet. (I see a potential for a sci-fi movie here). So it is quite possible it exists in someone we just don't know it. Nevertheless, since it matches with the children's symptoms the geneticist felt he could make an accurate diagnosis. <br />
So the diagnosis (for the few who haven't read it on facebook): Primary Ciliary Dyskinesia (PCD) and Limb Girdle Muscular Dystrophy (LGMD). Both rare diseases with the symptoms fitting the children. If you want more information about either disease there are some sites that will provide information. It is a bit too much detail to get into here. The muscular dystrophy association website (mda.org) is an excellent resource and has a very good description of the condition. The link to the specific page on limb girdle is: <a href="http://mda.org/disease/limb-girdle-muscular-dystrophy">http://mda.org/disease/limb-girdle-muscular-dystrophy</a>.<br />
Here is a link to information on Primary Ciliary Dyskinesia <a href="http://www.nhlbi.nih.gov/health/health-topics/topics/pcd/">http://www.nhlbi.nih.gov/health/health-topics/topics/pcd/</a> which is a short overview.<br />
The National Institute of Health and particularly their Rare Diseases webpage are excellent resources if you are interested in learning more information. You are welcome to ask me. I am usually up for talking about it. Depends on if I have just worked a night shift or how many times I have been asked that day or recently. But I find it is good to educate people so maybe the information is correct instead of heresay and rumors. :)<br />
What does this mean for Claire and Ryan? Not much is different for them in the immediate future. They now qualify for electronic CPT vests so no more banging on their back and front (when I found the time, which wasn't often enough). We will watch them closely when they get sick. We will mostly likely do a trial for Claire without her daily preventative antibiotic and see if she can stay well/sinuses clear. Most people with PCD live a normal lifespan. But no one can say for sure what their future holds in regards to the PCD. We will continue to see a pulmonologist twice a year and do what we can to keep their lungs and sinuses clear from mucus.<br />
LGMD is a progressive disease. However, there are about 16 different subtypes of the disease so each one is a bit different and often even amongst the subtypes different people have different symptoms and courses. It is possible Claire and Ryan won't need a wheelchair until 50 or 60. They may live a normal lifespan. They won't be athletes and they will continue to struggle with endurance issues (the PCD doesn't help that). They will never get stronger, they can gain some strength by staying in therapy and exercising but the muscle weakness won't ever go away. With this disease it is very much a watch and wait. We will run tests to ensure we catch anything early, but their day to day life won't change much. We celebrate milestones, we enjoy doing many things other kids do. And I remember to enjoy each day, every day I have with them. I may not know what tomorrow brings, but I know I have them for today. So today I will love and cherish that.Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com1tag:blogger.com,1999:blog-59084601001276528.post-11314841370895972262012-11-12T12:32:00.003-08:002012-11-12T12:33:20.700-08:00Blogging....I get asked periodically if I have updated the blog. I sheepishly answer no. I can use the excuse I am really busy. But everyone is really busy. I will admit it certainly isn't the first thing on my to do list if I have time and might not make the top 10. I do think each time something happens: news from a doctor, a sickness, a decision; I think "I need to write that on the blog as an update". And as you can see...it hasn't been happening.<br />
So I started to think about why. As those closest to me know, I am a relatively private person. Whenever I used to take those personality tests back in school, I actually was found to be an introvert. Amazing I know since I can talk with the best of them and probably could win a talking content (as long as none of my mom's side of the family, the Wahrmund's were included, not the least of which my wonderful brother and mother). So maybe that is why I don't blog often...I don't feel as comfortable telling the information to everyone and anyone. <br />
Yet so many people know about the kids and their health issues. I post on facebook periodically. I answer nearly every question people ask me in person regarding the kids and how they are doing. I admit that I don't talk or write too much about how I feel about this all or how I am doing....but that is just me. I did come up with a few reasons that I thought I would write about. One is pretty straight forwarde but the other gets into my feelings a bit more. So it may be too touchy feely for some. ;) However, an acquaintance from church has been blogging about her and her husband's journey as he undergoes treatment for a cancerous brain tumor with little chance at a "cure". So I thought maybe it was time for me to give blogging a try again. Here goes....<br />
The easiest explanation is that I cannot blog easily on my cell phone. That is how I communicate with many people now: texting, email and my friends call me on it. I read the internet on it, keep up with a few sites, and get news and weather on it. And I'm rarely at my house. Between nine (down from ten before the school year started) therapies, two girls in dance on different days, a trial with swim team, volunteering in numerous settings and ways I am just not at home. And when I am, I am playing with kids or trying to figure out how to keep my house running. Typing a blog on my touch screen just isn't as easy for me as the keyboard of my laptop. So you guys miss out on the info. Maybe over time I will learn to use my touch screen, and then you all may be sorry.....you may hear from me more than you ever wished to. ;)<br />
The other reason dips more into the feelings realm. I have heard many people find blogging to be an emotional release. A way to find support and help emotionally. Sometimes that is the case for me. But often I see it as another "chore", another thing I have to do in a day related to my children's condition. Most people look at my kids and don't see any "special needs". They seem healthy, their cognition ("brains" if you will) are intact and they can get around. They don't have wheelchairs, braces or any outwardly obvious signs that they have a condition.<br />
But I do. Everyday. Hooking Ryan up to his feeding pump four times a day. Begging Ryan to eat, trying to find something, anything that he will put in his mouth and swallow. The trips to therapy three-plus days a week. The frequent doctor's appointments. The weight checks. The fact I almost always run into someone from the Children's Hospital who knows me by name (or the kids). Watching Claire as she desperately tries to keep up with kids her own age as they run and run. Seeing Claire sit down in the middle of a Children's Choir concert at three in the afternoon because she is tired. The never ending sicknesses that winter brings. Seeing Claire's writing/tracing and looking at what hypotonia means. Wondering if we will be allowed in a private school because she is "accident prone" and tires easily. Finding a school that can best meet all their needs. Watching my daughter build a hospital out of blocks. Or play doctor. Or scream hysterically as we get into the car to go to a doctor. Watching her lying on the cement, holding her blood pouring out of her ear. Having her look up at me and ask why she is tired all the time, everyday. And the constant wondering if whatever they have will keep them from a long and healthy life. Will take them to "visit God and Jesus" earlier than I want, earlier than they should all because I missed something...didn't find the right doctor, test or treatment for them. <br />
So often I don't want to write because then I have to use still more time to be reminded of all of those things and more. I live and breath "this condition" every day. It has come to effect nearly every aspect of my life. It shouldn't and won't always be this way. In fact, this last four months we have taken some steps back. It has calmed down. And we will continue to have that be the case. I am determined the kids will have as "normal" a life as possible, as much as the therapists feel they can handle and is safe. The kids therapists love my children as their own. Both Claire and Ryan are extremely attached to them and consider them part of their "extended family". They are included in many life events such as birthday parties and are always thought of when something happens. (Claire loves to have pictures sent via text to Ms. Jenny and Ms. Kate). <br />
In this vein, Claire and Ryan will start a new school the Monday following Thanksgiving. This is a developmental preschool that is connected to the company that provides their current therapy. They will continue their therapies with the same therapists and will attend preschool classes the rest of the time. These classes are relatively small, 10-12 kids for at least 2 teachers, and they provide child-targeted instruction. Ryan will also be able to get his tube feedings there. The center is open from 7am-6pm M-F. Having therapy in the same facility will free up time for me as I will no longer have to go back and forth three or more times a week. Should all proceed as planned, the hope is that I can return to work at some point in the future when the time is right. This will also help Claire and Ryan to work to reach their full potential and be in an environment tailored to them. We can't wait!<br />
I do have some "medical update" to post following this so I will end. Maybe that is an additional problem with me and blogging...I just am too long winded. Maybe a touch screen will help with that.....only time will tell.<br />
Thanks for keeping up with us!! Off to be a mom for a bit. Hopefully I will make it back to update the medical side of things.Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com0tag:blogger.com,1999:blog-59084601001276528.post-10004662725241188272012-05-09T19:34:00.001-07:002012-05-09T19:34:21.917-07:00The News...Not all of it....The title is somewhat misleading...I will give out all the information I have. I just don't have all the results yet. No one does...well I guess whoever is reading the muscle biopsy might but not anyone here in Little Rock connected to Ryan's case. So here goes...please bare with me...this is complex and somewhat difficult to explain, especially via writing. I will do my best.<br />
Ryan had three different tests run when he went under anethesia on the 24th of April. One was looking through his digestive track and taking biopsies. This time no cells were found that indicate allergies. There was irritation but the doctor feels that was secondary to Ryan's feeding tube. He is of the opinion that Ryan will eat one day, and we just need to continue what we are doing. A few of my doctor's here along with myself are not very comfortable with his care or the approach taken by the GI doctor. So we will go to Children's Hospital in Dallas for a second opinion. We are seeing a highly regarded and recommended doctor at Children's. We are hoping he may have some different ideas and beliefs. It is thought the presence of these allergic cells is in no way related to any other condition Ryan may have. Nor is the growth and development doctor convinced allergies explain why he doesn't eat. We have removed certain foods and we got rid of the cells, yet he still doesn't eat. So....trying to get him to eat is a long road with many bumps....he is growing because of his tube feeds. Yet he still does not eat food. Depending on the doctor we are seeing, this is conerning or nothing to worry about. We continue to work on motivating Ryan to eat....<br />
The other two tests were biopsies. One was a muscle biopsy taken from his thigh. This was sent off to be evaluated to hopefully definitely determine what type of disease or syndrome the children have. We still away those results. Hopefully they will be back by the end of the month but it could be another month yet.<br />
The third test was added on at the last minute by our ENT. Yes, Ryan had three different specialists/surgeons doing procedures on him. Still not sure how that was coordinated so all of the three very busy people could work on him while he was under a relatively short time. This test was looking at the cilia in his nose. It was to determine if these functioned correctly or if they had a dyskinesia (moved incorrectly) so they didn't clear mucus and that is why the kids get and stay sick so frequently. They rarely can clear out cold symptoms....they linger until they become sinus infections or ear infections or bronchitis, you name it they get it. This was to be a yes or no question: they have ciliary dyskinesia or they don't. And there really isn't a treatment, you just get to know you have it and have it explain why you are sick. Well, the results came back with a five line description that was mostly greek to all of the doctors but the ENT and even he is stumped because the description includes the phrase "seen in one other case". I asked innocently, "oh one other case here at Arkansas Children's"...to which the reply was "oh no, in all of the literature". Great....one other person...really. The ever patient growth and development doctor spent nearly 30-40 minutes explaining and answering questions. These results from the ciliary biopsy indicate there is a problem at the cellular level in Ryan. It is probably a myotonic and/or microtubular muscle disease. It may not have a name. Seeing as the cilia is so rare it is possible the muscle disease doesn't yet have a name, just a description. She explained that the cilia of the other people who have whatever muscle syndrome my children have probably have the same types of problems it is just that they have not had their cilia tested to know. <br />
What does this all mean you ask. I mean, science is great but most of that paragraph doesn't say anything about what it means to Ryan's life, or the family or anything like that. As I mentioned in earlier post, all signs point that Ryan and Claire have the same muscle disease syndrome. So, Ryan and Claire are now a "package deal", two for one if you will. Both Ryan and Claire will now be seen in muscle clinic. This is a multidisciplinary clinic with doctors specializing in muscle disease as well as a geneticist and various therapists. This clinic will direct all of their care and send them to other specialists as necessary. This is also where Claire will be tested to confirm she has what Ryan has. They are waiting to see more specifics to determine how to best test claire...quick blood test or a muscle biopsy is needed. It is likely we will all undergo genetic testing to see where the genes "came from". Claire and Ryan will continue to have their therapies as they do now. They will just be evaluated at muscle clinic and now will qualify for therapy much more easily (if they cannot do one age appropriate activity, they will be in therapy). <br />
One concern that came out of the cilia biopsy is lung function. So they will now be seeing a , pulmonologist, possibly only yearly, who will monitor their lung function to ensure it is where it should be. Cilia are all part of the lungs and airway so malfunctioning and/or incorrectly developed cilia could effect their breathing.<br />
This should not be a progressive disease, meaning their health should not decline. What it does mean is that their muscle will never reach normal strength. What that means for their life? Well, time will tell. For now, Claire's weaknesses seem to be in her gross motor skills as well as the weakness in her lower jaw having a large effect on her speech and articulation. Therapies will be essential to keep them from plateauing and continuing to gain skills. We may always have to watch how much they do, as their endurance will not match other children their age. It is possibly we will have to limit activity at times depending on whether the muscle disease they have effects the ability of the muscle to repair itself correctly.<br />
It is thought the muscle disorder could explain why Ryan does not eat as his swallowing muscles may not be strong or developed enough so eating hurts and he avoids it. <br />
Only time will tell what the future holds for Ryan and Claire. We will do our best to work with them and follow through with the doctor's suggestions. While we know some, there are still many, many questions. Many without answers. That is hard for me.<br />
I will admit I am tired. It is tiring to spend so much time with two kids in doctor's offices or in surgery suites. To hear doctor's disagree and/or not be able to tell you answers or what to do. But I the children are happy. Claire took part in her dance recital. I saw her walk across the floor on her tip toes for the first time during parent observation day at her dance class. I have watched her grow and adore her therapists. They are her friends. The joy she had with her recital costume on. This are the images I hold on to as I fight back tears watching her struggle to climb up or keep up or run, jump and hop...as the other kids leave her behind. As I patiently listen as she desperately tries to get out the words she wants to say. And knowing how frustrated she is starting to get that people don't listen and interrupt her. As I watch Ryan trip after five steps and fall down face forward, as he throws his food and refuses to eat anything at all. <br />
But we will not only survive we will do our best to thrive. Appreciate what we have and create a "new normal" all our own. Thanks for reading this! For keeping up and caring! I appreciate all the kindness, support and friendship shown to me!!! And I will update the blog as soon as we have details from the muscle biopsy itself. Not that it will change the plan much. Just have another bit of words....big words that make very little sense but can change "our normal" in the blink of an eye.Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com0tag:blogger.com,1999:blog-59084601001276528.post-28985641767016524402012-05-09T19:00:00.001-07:002012-05-09T19:00:23.681-07:00Thoughts Before the Update You Really WantIt has been a week since Ryan and I saw the growth and development doctor. She has become the "ring leader" if you will of Ryan's care. She is the one searching for the right path for Ryan, for the right diagnosis, treatment, etc. I really like her. She is a very close friend of our pediatrician so that helps as well. So tonight I have finally found a few minutes to update everyone. We still don't have many answers. So, please don't think you are getting the whole story. And even when all of the biopsy results are back we probably won't have all the answers. In fact, we may never know what the future will hold for Claire and Ryan. This is a something I struggle with every day. I am a planner, I want a plan, to be organized. But I can't....I can't control or predict this. So I accept and enjoy, each and every day as best I can.<br />
The other news from the Durham house is I have decided to resign from my current work position. It is possible I will return to work in the fall to an "as needed" pharmacist job at a hospital in town. But I'm not certain. I will be finished as of June 15th. My job, unpaid, has become the healthcare needs of the children. All together the children have 8 therapies a week and it is expected Ryan will have more in the very near future. We see at least one doctor a week and often it is 2 or more. Sometimes two or more in a day, especially during our "sick season" of October-February. I talk to nurses, support staff, insurance companies. As we search for answers and the best options for our children, I feel it is time to concentrate on them for a while. It is my hope that during the next school year things will begin to settle in and the healthcare needs will become less cumbersome. Only time will tell.<br />
And I think it might be time to change the title of the blog. I shall wait until it is confirmed that Ryan and Claire have the same syndrome/disease or whatever it may be. But the doctors seem to think whatever it is they both have it, rare, unique or otherwise. So it may have to read Claire and Ryan both unique. ;)<br />
And now, without further adieu I will end this post and get to the info you really want...results....updates.....Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com2tag:blogger.com,1999:blog-59084601001276528.post-72769156174303533442012-03-20T19:36:00.000-07:002012-03-20T19:36:02.129-07:00The Surprise and The WaitSo, some of you have kept up via facebook. Some have asked what it meant or for more information. And some may be reading this for the first time. But a few weeks ago we got news that has changed a lot, yet changed very little for our family. What was it you ask?<br />
Well, I took Ryan to his monthly growth and development doctor's appointment, and she sat down with me and said that she felt Ryan and Claire had a similar condition or syndrome. They just had different manifestations of it or symptoms. She noted that Ryan appeared to have hypotonia and a "infantile walking pattern" meaning he still looked like a beginning walker despite having walked for 3-4 months. His swallowing issues and the like along with Claire's history suggested to her we should see a geneticist to see if he had any ideas on what this rare syndrome or condition might be and where to go from there. She planned to run a number of blood tests on Ryan and then we wait the six months to see the geneticist. He is reportedly one of the smartest doctors at Arkansas Children's (the other being the kids ENT). So the blood was drawn, and I went home somewhat stunned that someone now felt my children were "linked". Since I had been told that Claire was one in a million and there was just no way I would have another child with her issues. We also had never considered Ryan had an type of muscle weakness or issues since he had met his development milestones thus far and seemed far ahead of where Claire had been at his age.<br />
Then the blood results came back. One of Ryan's lab values was high. Not high enough to be muscular dystrophy in the traditional sense but high enough to cause "concern". Claire also has a history of this particular lab value being high as well but not as high. So the growth and development doctor spent 30 minutes on the phone with me (after spending 30 minutes with me in the appointment) discussing what this means and where we go from here. After consulting with other doctors, it is felt that the kids most likely have a muscle disease or mitochondrial condition. Based on this, a muscle biopsy is necessary to determine what they have. It is most likely a rare condition, maybe even as rare as 10-100 people. Who knows. We will also see the geneticist to see what he thinks and his recommendations. It is possible the geneticist will have thoughts and ideas on who would be best for us to see in future, as in she said, "he may tell you who in the U.S. best treats this condition" or know of conditions that have these symptoms and where you can go in the U.S. That was a lot to hear in one sitting.<br />
This has all been a very big shift in mindset for us. We have heard throughout Claire's life that "she will grow out of it", "that this is permanent", "kids just have weakness and a hard start sometimes" and the best: "there is no way Ryan could have the same thing", "it is fine to have another kid, it is not genetic, just chance".<br />
Well, it appears that my nagging feeling that things weren't improving the way the doctors kept promising may be more right than many wanted to believe. Just me being pessimistic and practical, they would say. Unfortunately, it does appear this is a syndrome or condition and we will have to see what the future holds. They are not in immediate life-threatening danger and it is possible they will live a normal lifespan....although do we ever really know how long we have. <br />
The first step is determining what the syndrome/condition is. On April 24th Ryan will undergo another scope of his GI track as well as have a muscle biopsy taken. The surgeon will take a small piece of his muscle which will be sent off for analysis. It will take 4-6 weeks for results. We will then see the geneticist in mid-June. Hopefully after that we will have a plan for follow-up and monitoring. Our wonderful growth and development doctor moves to San Antonio in August (yes, I will take the kids to see her there as needed) and our awesome, beyond words awesome pediatrician goes on maternity leave in August as well. So we need a management plan by then and hope to have it. <br />
And so we wait. Wondering. Praying. The kids have no idea. We hope physical therapy will help with Claire and her lack of endurance and her increasing trouble with getting around and keeping up. Ryan is growing....his tube feeds are working. He still doesn't eat much but the doctors are happy with his gain thus far. He is staying in the second percentile for now. We hope for some more catch-up in the near future.<br />
It will be interesting to see what the medical community has to tell us....what condition will forever "link" my two youngest children. For now, we will continue to enjoy them and the wonderful light and smiles they bring to me each and every day. They, along with their sister, bring me the greatest joy and happiness! Bless them!! Thanks for keeping up with us!!Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com2tag:blogger.com,1999:blog-59084601001276528.post-36386020651563448162012-03-20T19:12:00.000-07:002012-03-20T19:12:49.682-07:00Therapy UpdateIt has been a while since I posted. So much has happened and I feel bad I don't post more often. I have a friend who posts every time another medical event happens with her son. I am going to try to do that. It seems like that would be a good way for everyone to stay caught up. So much happens and changes it can be hard to keep up with us. :)<br />
Claire recently qualified for another year of occupational therapy. I am actually happy about this as they work with her on a lot of skills necessary for school. Her current abilities place her at a median age of 33 months. We are improving as this is only nine months behind her chronological age. She has also gained numerous "points" on the evaluation scales relative to last year's evaluation. So we are quite excited at her progress. We chose to send her to her current preschool at the church for three days a week next year as well so the extra help from OT will be nice. Claire also LOVES her occupational therapist, and I do not think she is nearly ready to say goodbye. She is quite popular at all of her therapies. :)<br />
Claire continues in feeding and speech therapy. We are making progress; however, she still struggles with articulation and weakness in her lower jaw. She is talking more and uses words above her age, etc the problem is understanding her. So we continue to work....<br />
Claire also was re-evaluated for physical therapy. If you remember she did not qualify in August to continue physical therapy. They felt she was able to perform age appropriate tasks. Unfortunately, this was most likely not the case and she was "coached" or helped through the evaluation. This is just a different technique and both the pediatrician and myself had concerns back then. At her evaluation a few weeks ago, she was found to qualify for physical therapy. Her broken leg may have made her a bit less strong; however, it was not the "cause" of her qualifying. In fact, the physical therapist discussed with me that after she had written and completed her evaluation of Claire she went back to read the evaluation from August. She was amazed and did not feel it was accurate and agreed with me that Claire could not do the tasks that had been reported she had done. So Claire will be starting physical therapy next week and will work up to twice a week sessions. Her median age was found to be 27 months. Her endurance is also a problem. She has a long road but this new physical therapist is WONDERFUL and we love her. She has TONS of experience with kids and comes from the children's hospital so is very prepared to work with kids like Claire.<br />
Ryan continues with feeding therapy. He is making progress as he will drink thickened liquids from a cup. He still doesn't like to eat but doesn't seem to have an adversion to textures. We just continue to work to encourage him to eat. For now, he will just continue with feeding therapy as his speech is doing fine. In fact, he is more talkative than either of his sisters, probably combined....there is no such thing as quiet at the house. :)<br />
I will try to keep everyone better updated about our progress in therapy in the future. Our therapists our becoming very much like family. I cannot imagine our lives without them!!Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com0tag:blogger.com,1999:blog-59084601001276528.post-75214835529610950302011-11-05T15:36:00.000-07:002011-11-05T15:36:20.127-07:00The littlest Durham, the brother...Ryan has had an interesting six weeks. He has had the GI flu twice in a month, which is not good for him as he cannot afford to not eat. I am hoping the longer he is in "school", the more immune he will come to the germs. We shall see if that is successful or wishful thinking. :)<br />
Ryan had a swallow study at the end of September. Unfortunately, he was worse. That is a rare occurrence and unfortunate. He is now on honey-thickened liquids. His reflux medications were increased. These changes helped him to want to drink his bottle. He started to eat off his high chair tray. We thought we were on our way...<br />
Then....we went for his weight check on Friday. Not only had he not gained weight, he had lost five ounces in the last month. He now has an official diagnosis of failure to thrive.<br />
So he is now to change to pediasure in his bottles as it offers 30 calories as opposed to high calories formula which offers 24. Both have to be thickened. He does not like pediasure and is now refusing most food as well as his bottles, both formula and pediasure. Luckily we have an appointment with the ENT/swallowing specialist Monday morning (already scheduled). He will be deciding if he needs to scope Ryan under anethesia. I am thinking that is likely. Luckily, I have been through a few of these. :)<br />
We will see what the next appointments hold. He continues to refuse to eat on a regular basis and most food. It is a strange phenomenon and one that is hard for all of us to comprehend. It has been interesting and hard to have two children with "special needs". I just have to remember the poem Maggie tells me regularly: "you get what you get, and you don't throw a fit". I am so thankful they are in our lives and that their minds/brains seem okay. Ryan has met all of his developmental milestones. We focus on the positives and try not to dwell on the negative. <br />
We are very, very thankful for all the love and support from everyone!!!Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com1tag:blogger.com,1999:blog-59084601001276528.post-54286627371938007792011-11-05T15:18:00.000-07:002011-11-05T15:18:15.555-07:00MaggieMaggie wants a post about her. So I will write one. It can be hard to have two siblings with so many health issues. She is a very good sport about the whole thing. She is also an excellent big sister. She watches to make sure they do not get anything they are not supposed to and will make sure people know what they can and cannot give her siblings. <br />
Maggie has loved kindergarten. Her teachers are wonderful with tons of experience. We couldn't ask for better teachers for Maggie. She has many friends and stays very, very busy. She is full of ideas and energy that never seems to end. She continues to take dance and tells us she loves it. She and I will be attending the nutcracker together in December. She cannot wait. Next year she will be old enough to try out for a part. I am not sure I am ready. :) She also loves that her sister takes dance at the same studio. They often perform dances for us on what they have been learning. It is very cute!<br />
This past week, Maggie had a program at school for grandparents and special friends. It was very cute. The theme was Happy Birthday as her school is celebrating its 40th birthday (40th year in existence). My mother was able to come and sat front and center, much to Maggie's delight. It was an adorable program, and I am so thankful we have found such a wonderful school for Maggie! Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com2tag:blogger.com,1999:blog-59084601001276528.post-28744675144985212002011-11-05T15:11:00.000-07:002011-11-05T15:11:42.571-07:00More QuestionsClaire had a visit with the gastroenterologist in Mid-October. It was my hope that she would be discharged from the clinic especially since she no longer had a feeding tube. Unfortunately, that was not the case. He is concerned that Claire has a "pouch" in her stomach. That along with some other complaints has the doctor concerned. He did not offer much except to test Claire for celiac disease (for which I assume she is negative since I heard nothing). After talking with her pediatrician, we are going to wait and see what happens after Claire is off her reflux medication and taking "regular" consistency liquids. Hopefully the removal of those things will take care of the situation. It is something we will monitor. If we do continue to be concerned then we may consider taking Claire to Dallas/Houston to have her examined by a gastroenterologist there. For now it is a monitor and wait and see situation.<br />
Also, Claire continues to snore and may have brief periods where she stops breathing (called apnea). Secondary to this, the pediatrician has ordered a sleep study. We will see where that leads us. This may be tied to her frequent infections and the fact she cannot seem to get rid of a cold and instead it becomes a sinus infection. We shall see....another adventure for us. With the holidays I have no idea when the test will take place. I will try to do a better job of keeping everyone updated. I apologize that I have not been better. Working, the three kids, their activities and my volunteering seem to "eat up" time.Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com0tag:blogger.com,1999:blog-59084601001276528.post-9337825349397416912011-11-05T14:47:00.000-07:002011-11-05T14:47:49.643-07:00Claire's Therapy UpdateClaire "graduated" out of physical therapy in August. The recommendation is that she be evaluated again in December/January and make sure she has not regressed. I am not sure that she has as she seems to get around pretty well. She is much slower than most but that may always be the case. Her class at school is made primarily children that were two in the spring so she is able to keep up with them quite well (seeing as she is three). That class has been nice as it is a bit smaller and she gets alot of one on one attention, which she loves.<br />
Claire continues with an hour of occupational therapy each week. The emphasis has shifted to fine motor skills, such as dressing, scissors, use of a crayon, etc. She still has marked weakness throughout her body. Medically this is called hypotonia, or weak muscles. It may be over time they grow stronger but no one really knows as there dodes not seem to be a "reason" for it. Ms. Paula, her therapist, who she adores says she is getting stronger. Still a ways to go. It is possible she will have enough skills come March to "graduate" from OT. I am not sure what she will think of this as she and Ms. Paula are very tight. :)<br />
Speech continues to be an area of "weakness" for Claire. Her evaluation in August placed her at about 24 months so about a year behind. She remains very week in her lower jaw which effects speech and feeding. She is making strides and the speech/feeding therapist we have now is wonderful! She is very knowledgeable, especially for a new graduate. She did training and Children's Medical Center at Dallas so she has experience with more complex kids like Claire. It is likely Claire will remain in speech for the forseeable future. Each year she is to gain more sounds/articulation so it is difficult to catch up once behind, at least at this young age. Maybe she will grow out of feeding therapy but we have a ways to go. She is having difficulty mastering drinking out of an open cup. Always something. <br />
Hopefully I will get a chance to update about the newest tests and discussions with the doctors as well as info about Ryan and Maggie. Our house stays pretty busy!!<br />
Thanks for taking the time to keep up with us!Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com1tag:blogger.com,1999:blog-59084601001276528.post-19899509514468221962011-11-05T14:33:00.000-07:002011-11-05T14:33:33.905-07:00Claire declared "normal"Don't let the title fool you. I don't think anyone related to me could ever be truly normal; however, in late August the swallowing specialist declared that he considered Claire a normal kid now. That was after she "passed" her swallow study with flying colors. Nothing went to her lungs. So we are now trying to slowly make her liquids thinner and thinner with the hope she will be on normal consistency liquids by the end of this calendar year.<br />
The reason for the "slow" move to normal consistency liquids is her muscles are not used to swallowing and need to be "trained". So far we have not had any choking or issues. We are very excited.<br />
She has had her first cold which became a sinus infection. Her pediatrician does not feel it is related to liquids, just the way she is. So "sick season" begins for her. She still has her tubes so maybe we can avoid ear infections....now it is coughing to keep her and mommy up all night. :)Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com1tag:blogger.com,1999:blog-59084601001276528.post-72812736338541993532011-08-17T20:12:00.000-07:002011-08-17T20:12:48.822-07:00Results and UpdatesClaire has had a number of tests and evaluations in the last few weeks. So far we have received all good news. It is hard to believe sometimes how far Claire has come in the last year. People often tell me how amazed they are with how much she has grown and changed. We are very, very thankful for the warm, loving and all around amazing little girl we were blessed with.<br />
Claire had her nerve conduction test today and did absolutely amazing. The doctor told us Claire handled the test better than any three year old (well in less than two weeks) she has ever seen. Claire did not cry at all during the shocks and only on the fifth, sixth and seventh needle sticks and stopped very soon afterwards. It was an amazing sight to see. She was even singing the Itsy Bitsy Spider at one point during the test. She is no worse for the test, having no regression or no residual issues at all. The test was completely normal, and this doctor sees no reason to continue with any type of testing. In her opinion, Claire may always be slower than others, but she is cognitively intact (she can receive language and process it) and continues to progress developmentally and is starting to catch up. This is wonderful news for us as we agree and feel no need to further search for a diagnosis/reason that may not exist. Just chance or luck. :)<br />
Claire also had a swallow study last week. For the first time in over 2.5 years, Claire's swallow study was normal. Nothing went to her lungs or even attempted to go to her lungs. We have not yet seen the ENT; however, the goal is to progress to nectar thick feeds and from there to regular liquids. This may be a long process, but hopefully she will be able to train her muscles to swallow the thinner liquids and avoid sickness so we can continue to move forward with drinking regular liquids. She is certainly ready to "drink like Maggie". <br />
Her feeding and speech skills are still behind. She continues to work on feeding in both speech and occupational therapy. She has had a bit of down time over the summer where she didn't go as often, and they didn't necessarily push her as hard but with the school year starting they plan to "get it going again". Her speech level is reportedly about on a 2 year olds level so about one year behind. She has about 40 sounds she cannot articulate (20-25 would be a qualifying number for reference). So we will continue with twice weekly speech and feeding therapy.<br />
On a positive note as well, Claire has progressed far enough in physical therapy to no longer qualify for further treatment at this time. The hope is that Claire will continue to improve and not need further therapy. However, as kids often regress, she is going to be reevaluated in 3-6 months to see where she is and if the situation has changed. We will continue to monitor her closely ourselves.<br />
As Arkansas has a cutoff date of August 1st for school, Claire is in a 2 year old class this year. This is actually good for her based on her physical abilities/motor skills. Her teachers are wonderful and we are very, very happy with her "new" school. Both she and Ryan attend the preschool at our current church. <br />
As we approach Claire's third birthday, it is hard to believe all the child has undergone and overcome in her short life. She is a joy to be around and continues to delight us with her abilities. I am thankful each day we were blessed with our precious little "Claire Bear"<br />
Thanks to everyone for the thoughts and support!!! I will plan to update again after we see her ENT physician in a few weeks time.Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com2tag:blogger.com,1999:blog-59084601001276528.post-24936500249810601592011-06-23T15:47:00.000-07:002011-06-23T15:47:04.294-07:00Test Results and BeyondAt the neurologist visit in early June, a number of blood tests were run. Some of the results are back (we are still waiting for results on some of the genetic tests). One test result was high. It was not as high as it would be if she had a degenerative muscle disease (think muscular dystrophy or ALS). That would be 10X or more from the normal value. So, the neurologist felt we should run the blood test again, to ensure that the level was indeed high. The second blood level came back today.<br />
Unfortunately, it was the same level as before. This means there is a possibility that Claire has a congenital muscle disease and/or a muscle abnormality. This is not certain as it could be "nothing". Claire has obvious weakness and a developmental delay. However, she is progressing, not regressing so it is difficult to ascertain what the "best" course of action is in her case. After speaking with the neurologist at length, further tests are indicated. These will be for diagnostic purposes as of now. She does not plan to change treatment options (continuing extensive therapies) unless the tests find something very specific with a set treatment. She is honest that she really doesn't know what to expect. The only thing she is sure of is that Claire does not have a degenerative muscle disease and that she is currently progressing, not regressing, which is a good sign. <br />
The other tests that will be run are not "easy" tests. The first will be her MRI next Friday, the 1st. She has to be put to sleep for that and cannot eat all day (until the test at 3pm). I am not looking forward to that at all.....The neurologist is not nearly as certain she will not find anything as she was prior to these test results. <br />
Claire will also undergo a nerve conduction/EMG test on each of her extremities. I will not give the details here as some may not wish to know, but you can get the description on google should you so desire. I have had this test done on me twice, one very recently and it is quite uncomfortable and painful. The neurologist even warned us this will not be an "easy" test. It is a very hard decision to make, but we feel we need to make sure this isn't something we can treat or something serious we need to know now as opposed to later. We also hope she will have less memories of the "trauma" from the test if we do it now as opposed to later in life. <br />
The neurologist also mentioned a muscle biopsy. It is my understanding this will happen if nothing is found on the MRI and nerve conduction/EMG test. It may happen if something is found; just depends on the results, I think. All in all, Claire is doing well. The doctors are very impressed with her cognitive skills as well as her receptive language. These tests are needed to ensure we know the proper way to treat Claire, and if she will continue to improve in regards to her swallowing or if this potential problem, means something different in that aspect. The muscle biopsy would be done by a surgeon, etc. We will cross that bridge if and when the time comes. :)<br />
The nerve conduction/EMG should be in the next few weeks (say 2-3). Only one doctor reads them so it can be difficult to get an appointment. July 4th holiday is in there as well. :)<br />
I will keep you updated as we learn more information. Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com3tag:blogger.com,1999:blog-59084601001276528.post-54038051399304856152011-06-11T10:57:00.000-07:002011-06-11T10:57:20.929-07:00Visit to the NeurologistWell, Claire went to the neurologist on Tuesday. Another doctor in another speciality trying to weigh in on Claire's situation. As my pediatrician put it, "everyone wants to be the one to figure out Claire". If only it were that simple. As Dr. Richter her ENT put it, she is a complex case. Not only is her "primary" condition extremely unusual, she has another of other symptoms that cannot be explained by her swallowing dysfunction. So other doctors get the chance to weigh in. See if they will be the one to find the elusive diagnosis that will explain it all. <br />
As most of you know, Claire has generalized hypotonia, which means the muscles of her entire body are weak. She also had a significant delay of speech. Another "concern" is that her cheeks are abnormally red/rosy (although her pediatrician is not concerned about that at this time). So those symptoms combined with her swallowing dysfunction resulted in a recommendation by the allergist and ENT to see a neurologist.<br />
So, we went. She noted that Claire's left side is markedly weaker than her right (more than seen with just a preference for the right in a right-handed person). Her upper body is very much weaker than the lower half. This could be that her physical therapy has made a larger difference in the lower or that her upper body is more effected by whatever has caused her to be weak. Her speech is still delayed. She was been slow to reach developmental milestones. However, the neurologist does not feel she has a "syndrome" to explain all of this. She is just slower. As long as she is not regressing, the neurologist does not feel there is a reason to "worry". She also agrees Claire is cognitively intact, and her receptive language skills are very sharp.<br />
So the neurologist decided to run a large number of blood tests to rule out a bunch of stuff (that I cannot remember). This is never fun as Claire is a "hard stick". The nurses spend "forever" to try to find a vein they can use. Unfortunately, we were there after the lab hours, which is not good as the people from the lab are the only ones who can draw Claire with any good results. So, the nurse finally tried and got nothing (after digging, which I HATE). So they called the lab who came and got it on the first try, but they didn't have ahold of her other arm well so she reached over and pulled out the needle. The nurses and the lab technicians were amazed with how well Claire handled the whole situation. I said, "This is what happens when you are in the medical system from 5 weeks of age on." The neurologist does not expect these to come back positive, but one never knows. It will take a couple of weeks to get the results so I will post when we know something.<br />
The neurologist also wants an MRI of Claire's brain. This will require Claire to go under anesthesia. Yeah (sarcastically)! I think we are up to 9 or ten times now. :P Unfortunately, the scheduling office was closed when we got finished with the appointment so we don't know when it will be yet. The nurse did the pre-screening and was asking about anethesia, etc and when she heard how much we have been under she laughed and said "you could give this info.". I will let everyone know when we know more about when. Again, the doctor does not think we will find anything but did caution it is possible that there is something in the right side of her brain, which would effect the left side of her body. One can have a motor deficit without any intellectual (cognitive) deficit.<br />
So we wait...for answers...that probably will not appear. We are just thankful Claire continues to improve. We will return for a swallow study and an ENT appointment in August. Then more decisions will be made.<br />
Thanks for continuing on our journey with us! We couldn't do it without all of you!!Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com2tag:blogger.com,1999:blog-59084601001276528.post-16500443252413718542011-06-11T10:24:00.000-07:002011-06-11T10:24:50.176-07:00It's Gone!Hi!<br />
<br />
We did end up pulling Claire's tube a month ago (I know I am sooo behind, sorry!). There were no complications and it has healed. No stitches were needed-it closed completely on its own. She does have a rather large scar, but we are leaving it alone for now. The hope is it will get smaller as she grows. We may consider doing something about it later, but the pediatrician says now is not the time to even begin to think about that. She had the feeding tube for over two years so a scar like hers is to be expected.<br />
So we continue to progress.....she is doing wonderfully, and we couldn't have asked for better progress. Just last week a lady from the church who watched her in September and then again last week said she is a completely different child! She could not believe how much progress Claire has made! Sometimes I think Jonathan and I forget since we see her everyday, but we hear that from so many people, especially those who do not see her on a regular basis. <br />
We are thankful that she continues to do well and is such a happy child! Medical science is an amazing thing!!!Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com0tag:blogger.com,1999:blog-59084601001276528.post-33397206893378454512011-05-10T20:37:00.000-07:002011-05-10T20:37:46.051-07:00The Pulling of the Tube (most likely)So, there have been some questions about what this means, why now, what happened, etc. So here goes with an explanation. I am going to try to keep it short and simple. It is late, and I need sleep. :) The three kids will be up early tomorrow I am sure. <br />
When Claire's tube was placed at five months, I was told they hoped to be able to remove it by 12-18 months. It was thought her dysphagia was related to reflux/infancy (like they say Ryan's is although they are getting smarter and don't say it to me with as much certainty since I have the rare) :) We now know that Claire had a separate condition of cricopharyngeal achalasia, which most likely was the reason for the swallowing dysfunction. That being said, Claire has progressed over the last year to the point where she eats and drinks honey thickened liquids solely by her mouth. Her tube is only used for medications, not to feed or hydrate her in any way. It has not been used for those purposes for over 6-9 months and probably wasn't needed to feed her for over a year.<br />
We had been told in the past to leave Claire's tube in until she was able to tolerate liquids (non-thickened) for a least a few months (some said six). A tube is nice to have with the stomach flu, when you have a sore throat, won't drink or after surgery/procedure. So we just kept it. No reason to pull it if it wasn't hurting anything or causing problems.<br />
Well, there is the catch. Back when we were still in Cheyenne and seeing the doctors in Denver (about 15 months ago) and Claire was still using the tube for feeding and hydration, she was struggling with vomiting et al so they doctors felt a bigger tube was needed. That is common with the "fast" growth of children. So we got a bigger tube and all was better. Fast forward to six-eight weeks ago. Claire started complaining that her tube hurt. She was itching it. She played with it more. We started noticing some film and redness. So we brought her into the pediatrician about three weeks ago. She told us it could be a fungal infection, which could be treated with an antifuntal cream. She also brought up the idea of it being time to remove the tube. We decided to wait and see if the cream solved the problem. It didn't. So Claire now has more "scar tissue" growing. It is the type of tissue that when irritated grows more. What we think is happening is that the tube is "leaking" and that is irritating the skin and causing the symptoms. So we have a number of options:<br />
<ul><li>Take her to a surgeon at Arkansas Children's who will "burn" off the excess tissue and then put in a larger tube and hope this does not return. </li>
<li>Put in a larger tube and leave the skin as is and hope it doesn't continue to bother her</li>
<li>Pull the tube and let the "hole" heal and there will be nothing left to be irritated. </li>
</ul>As Claire is not using the tube for feeding and has not been for some time, she meets the guidelines for tube removal. It was fine to leave in while there were no problems but since there are now it makes sense to pull it. There is little chance of her needing it again as they do not feel she will regress. So the plan is to remove it this weekend when we can be around (and the pediatrician is on call and working on Monday) and see what happens. We just pull it out and watch the hole close. If it doesn't close off in 48 hours then stitches might be needed. No operation, no anethesia. I have been changing the tubes every three months myself so this is not that much different (just don't put another one in). <br />
While this is a HUGE step for Claire, a big decision and very exciting, I want to be sure everyone understands that this does not mean Claire is "cured". Again, her day to day life will be very much the same, just without a tube. She will still need thickened liquids. We will still have to watch her closely when she eats, etc. There is no time table for when she will not need thickened liquids, she will just be like the other kids who have thickened liquids for whatever reason. For more information on the plans for Claire in regards to therapy, thinner liquids, etc please see the notes before this one. Claire is one complex kid even for the specialists. Only time will tell what the future holds. For now, she is one happy, bright and increasingly "terrible" two year old kid.Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com0tag:blogger.com,1999:blog-59084601001276528.post-25168588882612753592011-05-10T19:59:00.000-07:002011-05-10T19:59:36.899-07:00The ENT Doctor's PlanWell, we saw the ENT for the first time in nearly four months at the end of March. As she had been having some congestion as well as numerous ear infections, he felt it was time for another scope and another set of ear tubes. This was done at the end of March. He then saw Claire again at the end of April. <br />
The scope of her airway/swallowing pathway showed that the muscle remained dilated. This is a good sign, and we should not have to do surgery in the near future. He had asked us in March to do a trial of nectar thin liquids. Unfortunately, this did not go well for Claire. She ended up with a severe sinus infection within 24-36 hours of the thinner liquids. We returned her to the previous level of thickened liquids and this is where she remains as of now. The doctor has decided to give Claire a "break" as he feels he has pushed her very hard. He wants to give her body time to grow and "catch up" with all of the "stuff" he has done to it. He will then do another swallow study in August (hopefully she will cooperate a little more that before) and then meet with him. We will see where we go at that point. <br />
Claire will also see a neurologist per his and the allergist's suggestion. Our pediatrician is not convinced this will be helpful nor will they find anything but after relentless urging she decided to send us. We will see them on June 7th. Who knows what that will bring. Claire is "complex" per the doctors, and we don't even see residents anymore. She is also a grey area, where there are many questions and very few answers. They could decide to do nothing in neurology, or they could decide more tests. We shall see. However, the doctor's do not expect to find any type of cognitive deficit, this would only be to find a reason for the hypotonia (weak muscles) throughout her body or potentially her swallowing difficulties. So we will be off to yet another doctor...... hope they are nice.....and not a long wait......and please, please, please have comfortable chairs. :)Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com1tag:blogger.com,1999:blog-59084601001276528.post-47118466547476254252011-05-10T19:48:00.000-07:002011-05-10T19:48:57.102-07:00Therapy UpdateClaire is progressing well with her therapies. She was "re-evaluated" in occupational therapy in March, and it was found that she qualified for therapy to improve her fine motor skills. This means she will continue in OT until at least next March. She loves, loves, loves her OT (Ms. Paula) so I am excited about that. I am also excited as this helps with alot of activities that help her to be more independent (dressing, etc) as well as activities for school (using a crayon, scissors, etc). <br />
Her speech has come a long way as well. She has met all of the goals made for her at her evaluation last August. Now they are working on some new goals, such as putting nouns and verbs together. Her speech therapist is not sure if she will qualify when she is evaluated again in August. At three, articulation is considering when evaluating for therapy and the therapist feels Claire will be lacking in that area. She still can be very difficult to understand. So we will see. For now, Claire will continue with speech therapy so she can get as much assistance for maximum improvement as possible. <br />
Her physical therapy is progressing nicely. She now goes once a week for an hour. It is possible she will no longer need physical therapy after she is evaluated in August but that is not a given. As she will be three in August, what she needs to be able to do also changes and increases. Only time will tell. <br />
All in all the therapists are very, very happy with her progress. She is a different child than the one who started back in August. She has grown so much, and we are very, very thankful for the wonderful therapists who work with her each and every week. Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com1tag:blogger.com,1999:blog-59084601001276528.post-4936334648185129722011-03-07T08:57:00.000-08:002011-03-07T08:57:06.413-08:00And the Little Brother Is Not To Be Left Out....In a development, Jonathan and I could have really done without, Ryan went into the hospital to try to determine the reason for his low weight gain along with his anorexia/not eating. What the doctors found is that Ryan needs thickened bottles. Like his sister before him, liquid consistency was going into his lungs. Both his pediatrician and I suspected this; however, it can take a long time to get the testing so a hospitalization was warranted to speed things along, if you will.<br />
All other tests of his anatomy, etc came out fine. He has since gained another pound to bring his weight to a little over 10.5 pounds at age 3 months, 1 week. We are delighted to finally have some answers!!! He is sooo much happier and content. It is sometimes hard to believe it is the same child we had at a month who screamed nearly all the time. <br />
This is thought to come along with his reflux so he is receiving medication for that as well. This seems to offer him some relief as well. We are thickening his bottles with rice cereal for now as he needs the extra calories to help with weight gain. He also takes higher calories formula so we can maximize his calories with each amount he takes in. He is still not a huge eater and we have to track how much he eats each day to ensure he receives enough liquid, but things are much brighter at the Durham house these days.<br />
He does not seem to have any of the same conditions as his sister. His needing thickened bottles is relatively common (we know a couple of families ourselves who had to do this) and is often the result of severe reflux. He will undergo another swallow study around one year of age to see how he has progressed. Most children outgrow this by a year. We will see what happens at that time....until then we just keep thickening.........Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com2tag:blogger.com,1999:blog-59084601001276528.post-27400712324596320262011-03-07T08:46:00.000-08:002011-03-07T08:46:34.574-08:00Not So Fast.....And here is the bit of news that slows our enthusiasm a bit. Claire has begun to choke on solid foods, and it appears her congestion is back. We have an appointment with the ENT later this month. It will be interesting to find out if the muscle has contracted again as he suspects. She will most likely need an endoscopy to determine this. Yet another time of anesthesia.......<br />
This has not gotten Claire's spirit down so we try not to let it worry us. As most as us, "well what does this mean", here goes the short explaination:<br />
If the muscle is not contracted, ie her acalasia has not returned then it is just a swallowing issue. Most likely that her muscles are still trying to learn about the swallowing and/or she has a cold that effected it. It could be that the thinner liquids are effecting her, and we will go back to full honey thickness. At this time, the ENT feels this is unlikely but possible.<br />
What he feels is more likely (but would be HIGHLY unusual, but when is Claire not) is that the muscle contracted again and is "blocking" the swallowing pathway. If this is the case, we are not sure if he will try to dilate it again or if it will be time to discuss surgery to permanently dilate it. We will just have to wait and see...I hate waiting.....and wondering.....we will keep you posted!Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com1tag:blogger.com,1999:blog-59084601001276528.post-3597099931442551522011-03-07T08:40:00.000-08:002011-03-07T08:40:51.792-08:00Thinner Liquids???Since I have not updated the blog in forever many of you may not be aware of the newest developments in Claire's medical situation. Back in November Claire had the latest of her endoscopies. This is what resulted in the diagnosis, etc. as stated on the blog. Then Claire's baby brother was born a week earlier than planned and blog enteries went to a stand still. I apologize for that. Here is what has happened over the last few months.<br />
In December, Claire went to see the ENT Dr. Richter and had a swallow study. The swallow study did show some aspiration (fluid into her lungs) at a nectar consistency. However, Dr. Richter did not feel this was a huge issue at this time. He feels much of this is because Claire's muscles do not have "practice" or the "know how" to swallow correctly. So he has written a protocol which he uses with "swallowing kids" like Claire to teach their muscles how to swallow and return them to drinking a liquid consistency. So, Claire has been drinking a bit thinner liquid, "thin honey" if you will. We will thicken with the honey consistency thickener so she is by no means drinking a thin liquid, but it is thinner that what she has ever had in the past (since the tube placement). She has tolerated this well with no issues. That is thrilling for us!! If she continues with no complications the hope is to have her on normal liquid consistency in the next year to year and a half. We shall see how that goes.....we remain very hopeful!!<br />
She was also taken off all feedings through her G-tube/button. We only use it for medications or if she is sick and cannot take in enough fluid. Some of her numerous medications were discontinued, which is always a wonderful thing!!<br />
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Claire also saw the allergist at the beginning of February. After testing for 33 different allergies, it was determined she was not allergic to any of them. Overall, the allergist does not feel she is allergic to foods although he cannot rule it out completly. He did not know the cause of her very red cheeks but felt we could work it up further with a dermatologist if we desired. Per the pediatrician and our wishes we are not pursuing that as we feel Claire as spent far too much time in doctors offices for medical issues. Red cheeks are not a huge issues and not something life threatening. We will see what happens with time.<br />
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We also saw the GI doctor in February. Nothing much to report from there as Claire is so stable he does not feel he needs to see her for at least 8 months. Mostly we are on a holding pattern as we wait to see what happens with her swallowing condition and her acalasia. <br />
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All in all, life is going well for Claire!! We can see a bit of light at the end of the tunnel. Claire is a happy littel girl who can light up a room. She doesn't let her tube stop her at all. In fact, she helps us by opening it when she gets medicine and even can give herself the medicine by pushing in the syringe. She definitely is starting to realize she cannot drink what others can, and this is very frustrating to her. It is hard, but we push through it and try to distract her. We all look forward to the day when she can go to Chick-fil-A and order a happy meal and drink the provided juice/milk. Until that day, we wait and hope......Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com2tag:blogger.com,1999:blog-59084601001276528.post-85248604355314378452011-03-07T08:27:00.000-08:002011-03-07T08:27:49.866-08:00Speech and Occupational Therapy UpdateA day of updates!! Finally have a few minutes to type. :)<br />
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Claire continues with two sessions of speech and feeding therapy a week. She changed therapists in January to a lady who recently graduated from school. My do I feel old!!! Claire has taken to her and seemsspee to enjoy their time together. As speech therapists get very little feeding therapy training in school, Jill is learning alot on the job. Claire is doing better, but still struggles with using her tongue during eating as well as chewing completely and taking the small bites. Claire loves to eat so it can be difficult to get her to slow down and practice her skills.<br />
Claire's speech is progressing as well. She has met the original goals of therapy set for her when she was evaluated in August. This does not mean she is ready to "stop" speech therapy, rather that she has progressed and is now ready for some new goals. As Claire's speech was so delayed we have a long road before we reach age appropriate abilities. Some sounds may also prove to be harder for her secondary to the low muscle tone as described in the physical therapy update below. It can be very difficult to determine what Claire is saying although other times it is crystal clear. She loves to sing and can often be heard singing to herself as she plays. It is so nice to hear her speaking that it is almost okay that it increases the noise level in the house. <br />
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Claire has done very well in occupational therapy. She LOVES her therapist and wishes she saw her everyday. She just has OT once a week much to her dismay-I think it may be her favorite. She is making great strides, and the therapist is amazed with how far she has come in the short time as well as how brave she is getting. When Claire started she would not even get near the ball "pit"; now she jumps right in. She was recently evaluated on her fine motor skills, and it was found that she did need assistance with those. So the occupational therapist is now working on those tasks with her. That will be an interesting area to watch. Claire loves to do things with her hands, etc but she struggles with many things requiring muscles to move together like: dressing, scissors/cutting, writing/coloring. And potty training is one adventure after another. I think we will wait until summer to maybe, finally figure it out and become 100% potty trained.Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com1tag:blogger.com,1999:blog-59084601001276528.post-17826567296658599212011-03-07T08:13:00.000-08:002011-03-07T08:13:22.655-08:00Physical Therapy UpdateWell, it has been far to long since I updated the blog. I plan to do better. So here goes!<br />
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Claire currently receives various therapies five times a week. She seems to enjoy them and doesn't really know that is different than the norm. As someone said to me at church yesterday: she is so laid back. And that is really true. While we do have our occasional two year old tantrum, for the most part she is very easy going. I am thankful to have one more laid back.....<br />
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Claire has physical therapy twice a week. Unfortunately, she will change physical therapists today as her previous one has moved on to another job. There is just not alot of money in pediatric therapy, I have learned. She has progressed well with her sessions and has progressed to the point where she can do many age appropriate activities. Despite this, it appears she will need physical therapy for the foreseeable future. With the loss of a therapist, there is a list made of who needs to continue therapy and who can wait until another is hired. Claire was at the top of the list, which is good on one hand as she will continue therapy; however the flip side is that despite her gains there is much work left to be done. <br />
We have learned that she needs shoe inserts as her left foot turns inward. We are hopeful this will help her gaite. We are still looking into this as she may need bigger shoes, etc. I will keep you updated as this progresses. I am interested to see if she likes them....<br />
We have also learned Claire has low muscle tone throughout her body. This effects her physical abilities and helps explain some of her speech/feeding issues. Here is the way the low muscle tone was explained to us: Picture a muscle as five hoses tied together. In normal muscle tone the water is running through the hoses at full strength; think of how heavy and stiff those hoses would be. Claire still has the five hoses, but the water is only trickling through hers resulting in the "low muscle tone".<br />
When you put her in a room of her "peers" you can tell she is slower and is working very hard to try to keep up. She doesn't let it stop her though. I will be honest that it can be hard to watch, but I just remember what a fun little girl she is and how much fun she is having and don't let it get me down. We don't know if this will ever be cured; however, it should not effect her daily life to a large degree. Many people move slowly and deliberately so although she will most likely not be a star athlete, she will still get into as much trouble as the next gal.<br />
Soon we will be off to another fun therapy session full of workouts on the stairs and exercise ball. Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com1tag:blogger.com,1999:blog-59084601001276528.post-32161373737649954742010-11-09T13:06:00.000-08:002010-11-09T13:06:57.329-08:00It Has A Name.....So the verdict is in, well sort of. :) As is common with Claire and her situation, the scope answered some questions, yet the doctor still wants more information before he makes a definitive decision on whether to do surgery or not. <br />
The muscle above Claire's esophagus was contracted again (hence the above diagnosis) but not as contracted as previously. The muscle was dilated again and the hope is that it will stay in place long enough for the swallow study to take place (and that Claire will cooperate for said swallow study) and he can make a decision on the surgery. We have a swallow study and follow-up appointment scheduled for December, and he would like to see that information and move forward from there. While I hate the waiting, this is okay as I don't think we would have been doing surgery in the near future anyway secondary to Baby Durham's approaching arrival.<br />
The BIG news from this: we have a name for what Claire has: <em><strong>Cricopharyngeal Achalasia</strong></em>. She retains her diagnoses of dysphagia and developmental delay; however, this "new" diagnosis could explain her dysphagia and other recurrent symptoms. It would be very nice if this was the case. This condition is extremely rare in children and is often looked for only after everything else has been eliminated as causes or reasons for the swallowing problems. It is apparently even more rare that surgery is needed, but it seems more likely than not we will be headed that way. Again, hard to tell at this point. The doctor here gave a very good explanation as to why the other doctors had not found this, which helped Jonathan and I to better understand the situation and how this is only now being considered as the "problem". We are very thankful we have found a doctor who is able to help Claire and may finally put an end to her "suffering". <br />
The doctor also looked at Claire's airway. The inflammation, redness, etc was still there. As of now, Claire's airway is functional, which is a good thing. However, the reason for the inflammation needs to be determined. He still feels it is allergies and plans to send us to an allergist for further workup. He referred to Claire as a "special situation/case" with the words "as you know".<br />
That is the thing I take most from this situation. We may not get answers quickly or as often as we want. She is just too rare. It is hard to imagine in this day and age of medicine, but we got the "rare" disease. Guess someone has to have it.<br />
Claire continues to be a happy and loving child. She remains skiddish and sensitive but that may be her nature her whole life. Kids in the medical system for long periods, especially at young ages, often develop those personality traits. She is picking up more words every day and is more adventerous at therapy these days. She actually looks forward to school and therapy and more often than not goes readily to her activities without crying for mom or dad. <br />
Not to be left out, Maggie continues to amaze us each day. She loves school and dance and is very protective of her little sister. She says she is looking forward to a little brother we shall see..... <br />
Thanks for all the thoughts and prayers and well wishes! I will try to post if something exciting happens. Otherwise, we will be getting ready for the arrival of baby Durham in early December and the swallow study/follow-up visit.Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com2tag:blogger.com,1999:blog-59084601001276528.post-56065238188134030222010-11-08T19:56:00.000-08:002010-11-08T19:56:33.883-08:00The Night Before a ProcedureWell, Claire will go to the hospital for another "scope" tomorrow. It will be her 8th time under anethesia (don't think I forgot one...). This should be a relatively fast procedure. She should be in and out. I imagine we spend more time waiting for the procedure then she does in the procedure. I am not sure how long they will keep us afterward as Claire is usually very cranky and difficult after anesthesia so they may keep us a bit to ensure she calms down and doesn't need oxygen or anything. However, I envision a relatively short day. I am not sure how I feel about all this and what I want to "happen", honestly. On one hand, finally finding something that is fixable would be nice, especially if it fixed everything. However, that would mean a surgery that I am not sure I am ready for. So, I will just wait and see what is found or not found. The waiting is always so hard....that and not being able to feed a 2 year old any food until after the procedure. :)<br />
Thanks for all the thoughts!!! I will update on the blog as soon as I can. <br />
Good night!!!Marthahttp://www.blogger.com/profile/07396098809834242466noreply@blogger.com3