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!!
Tuesday, March 20, 2012
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!!!
Maggie
Maggie 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.
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!
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!
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!
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!
More Questions
Claire 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.
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.
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.
Claire's Therapy Update
Claire "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.
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. :)
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.
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!!
Thanks for taking the time to keep up with us!
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. :)
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.
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!!
Thanks for taking the time to keep up with us!
Claire 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.
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.
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. :)
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.
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. :)
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