Tuesday, July 15, 2014

Liam's Diagnosis

Liam is a sweet, funny, joking, beautiful, smart, cuddly, loving, kind, caring and space loving little two year old.  We adore him and his brothers and sisters dearly.  Liam spent 41 days in the NICU mostly because of his inability to feed.  He has also received physical therapy since he was 4 months old.  He received Occupational therapy the first year which I believe helped tremendously, Judy did an amazing job with him.  Liam has been smaller with hypotonia and other issues.  He has had so many tests including MRI's, tons of blood tests, genetic tests, a growth hormone test that landed him in the ICU for the day and electrical stimulation tests an EMG.  He has been hospitalized several times for hypoglycemia and RSV.  We now know part of the puzzle.  We have an answer.  I only report this to give it a name and to bring light to the disease. I had never heard of it.  We will take this diagnosis and move forward.  We will never let it be who Liam becomes.  It is part of him and we truly believe he can and do anything.  He is so amazing!

Last Thursday he was diagnosed with centronuclear myopathy.  He has a DNM2 mutation and is autosomal dominant.  With that information he either had a spontaneous mutation or got it from Sidney or I and we are not expressing the disease.  We hope that it was spontaneous and that the other kiddos will be okay.  There are two other people in the world that have been identified with DNM2 C1102G-A. I write this hoping that if anyone else has CNM that they can contact me so we can learn more.  The disease can be mild and express itself in weakness, low tone and maybe and eventual wheelchair to severe where a child ends up on a ventilator and a full time wheelchair and cannot walk.  We know Liam is a fighter and he has Brielle and River to chase after which has kept him strong.  He has already done so much.  When he was a baby he was unable to roll over or hold his head up for a very long time.  He has made incredible progress.

We thought he was done with physical therapy, but he will continue.  We will support Liam and help him get as strong as possible and live his happy, beautiful life.  This does not define him it is just part of his story.  Keep him in your happy and strong thoughts!!!

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