My Daughter has Hypotonia! Now What?

Hearing the words "your daughter has hypotonia" came as a relief.  Since she was born I knew something was wrong but didn't know what.  I had brought up issues to countless doctors to only be labeled as a Nervous Mother.  This label was so strong even when I brought up breathing issues that were so severe we called 911 I was brushed off.  So getting a concrete diagnosis of Hypotonia was life changing for me.

For those unfamiliar with Hypotonia the following is the definition on Wikipedia.
"Hypotonia is a state of low muscle tone^[1] (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the muscle weakness and the nature of the cause. Some disorders have a specific treatment but the principal treatment for most hypotonia of idiopathic or neurologic cause is physical therapy, occupational therapy for remediation, and/or music therapy."

As mentioned in the definition Hypotonia is not a disease rather the symptom of an underlying medical condition.  So you can imagine that my relief was quickly followed by horrification as to what was causing the Hypotonia.  We are among the fortunate to find a great Neurologist that actually conducted tests (I have heard a lot of people have had to push to get tests).  He found something in her DNA and we were sent to a geneticist.  It seems she is missing a strand on her X chromosome and this was inherited from me.  Apparently the condition is very rare and there are only a few reported cases (the main reason is the ability to see this deletion is new).  Despite the fact I don't have Hypotonia they say this condition is responsible for my daughter's Hypotonia.  Her Neurologist is not 100% convinced nor am I.  But after a year of doctor visits and tests we are giving it a rest.  We are visiting the cardiologist (double checking to make sure it is not affecting her heart, I love her Neurologist) on Friday and then we are done.  

My daughter was 4 when she was diagnosed (she is now 5).  She has developmental delay, low tone in her trunk, legs and shoulders.  She also suffers from mild seizures.  We are very fortunate that she can walk, run and climb stairs they all just take more effort.  Sitting in a chair is also an effort.  She cannot keep up with most kids half her age and can walk maybe 5 mins before getting completely winded.  These things are all par for the course I am finding out and like I said we are fortunate that she is able to do that much.  Her prognosis could have been much worse.  

I created this blog as a way for me learn more about Hypotonia and ways to help my daughter live a happy life from research and hopefully other parents going through the same thing.