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!!
Subscribe to:
Posts (Atom)