I 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.
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. :)
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....
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.
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: http://mda.org/disease/limb-girdle-muscular-dystrophy.
Here is a link to information on Primary Ciliary Dyskinesia http://www.nhlbi.nih.gov/health/health-topics/topics/pcd/ which is a short overview.
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. :)
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.
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.
Tuesday, April 23, 2013
Monday, November 12, 2012
Blogging....
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.
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.
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....
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. ;)
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.
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.
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).
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!
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.
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.
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.
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....
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. ;)
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.
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.
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).
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!
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.
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.
Wednesday, May 9, 2012
The 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.
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....
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.
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.
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).
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.
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.
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.
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.
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.
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.
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....
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.
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.
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).
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.
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.
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.
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.
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.
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.
Thoughts Before the Update You Really Want
It 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.
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.
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. ;)
And now, without further adieu I will end this post and get to the info you really want...results....updates.....
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.
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. ;)
And now, without further adieu I will end this post and get to the info you really want...results....updates.....
Tuesday, March 20, 2012
The Surprise and The Wait
So, 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?
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.
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.
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".
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.
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.
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.
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!!
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.
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.
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".
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.
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.
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.
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!!
Therapy Update
It 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. :)
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. :)
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....
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.
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. :)
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!!
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. :)
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....
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.
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. :)
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!!
Saturday, November 5, 2011
The 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. :)
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...
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.
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. :)
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.
We are very, very thankful for all the love and support from everyone!!!
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...
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.
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. :)
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.
We are very, very thankful for all the love and support from everyone!!!
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