Madison at 20 months old

(fall 2002)

Madison has had a very busy FALL...as you read...she saw a geneticist in September...who decided to run several series of tests...all of the testing came back normal...she was tested for William's Syndrome, Some repeat Lab work (prior bad results).  Madison also had a repeat MRI in October at CHOP...this MRI...showed her brain developing normally...meylinating (sp?) as it should.  This was a relief as we had been told that we WOULD see damage on this MRI...MIRACLE IN PROGRESS?!? She was tested for Cystic Fibrosis as well. Our visit in October with her neurologist was a huge wake up call for our family...Madison's delays are now defined as disabilities and it is occurring to us that they are not going away and she will not catch up to her peers.

Anyway...moving along...we had our visit with the specialist in NYC...Columbia Presbyterian Medical Center at the Neurological Institute...he is a guru in the metabolic/mitochondrial fields...is director of pediatric neurology.  The overall visit was very good.  He did complete histories on our family and examined Madison carefully.  It is his determination that Madison's Hypotonia is of Central Origin meaning...that it is a central nervous system deficit...neuro problem.  He felt her tone wasn't that low...but she has a gross delay in function.  Called her very uncoordinated (which we knew) and said it was what he considers dys~equalibrium.  He was quite "impressed" with her lack of motor ability. He also felt the Madison has truncal ataxia and his impression of her hypotonia is more than was one would see in a regular occurance of hypotonia. He feels it will be in Madison's best interest to have her admitted to Columbia for some controlled and invasive testing.  They will admit Madison, short term, and perform a muscle biopsy, spinal tap, MRS (like a MRI but measures brain chemicals??) and more blood and urine testing for specific mito/meta disorders. 

He validates our reasons for wanting to find a diagnosis but warned that although we may diagnose a metabolic condition...most can not be fixed, treated, or cured.  He said he wished that all kids could have the kind of problem that can be treated with vitamins or diet change.  It is our hope that Madison's condition will be treatable.

Madison's gross motor improvement is so slow the doctors aren't sure how much further she will go...they give you a 24 month cut off for sitting.  If she can not sit independently by 24 months (without support of hands) then more than likely she will never sit or walk.  We, of course, disagree and believe that she will eventually sit and stand and even walk.  What the doctors don't realize is we have the Lord on our side! And a heck of a lot of FAITH!

Madison is currently seeking more services through the intervention system...we hope to get her 2 days of PT, 1 day of OT, 1 day of ST and 1 day of Cognitive therapy. She qualifies for a CH9 based upon our income therefore the state will provide her with therapy above and beyond the required 2 hours per week.  As long as our insurance will still cover visits to Bacharach Rehabilitation Center we will continue to take her.  Our insurance will provide her with 60 visits of rehab per diagnosis per lifetime...we will try to get approvals to continue when we've exhausted the allotted amount. Presently, she is receiving PT at Bacharach and soon to be getting Speech and OT as well.  At 20 months old, Madison's developmental age for Gross motor skills is about 5/6 months, her fine motor and cognitive is about 9 months, her speech is about 9 months and her social skills is about 13 months.  She is considered GLOBALLY DELAYED (this assessment done by her neurologist).  Her EI assessments have been more promising.