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!!