My son didn't meet all of his ''milestones'' and was placed in our school districts ECD program at 2 years of age. While the ECD program was focused only on speech therapy. My wife an I questioned the need for physical and occupational therapy.
Our concerns were brushed aside with the common statement that "he will outgrow it". We followed up with expressing our concerns to his pediatrician. His pediatrician referred us to a Physical Therapist. At one point my son developed a involuntary twitch. We were referred to a Neurologist. A MRI was taken of my sons brain and the Neurologist report was negative.
My son has always walked on his Tip Toes. He has always walked with a "high gait". The reports have always shown a dramatic "foot drop". My son has always had "high arches". He has always been easily fatigued doing simple tasks. He has never been able to "run". He has a history of "falling down".
Keep all of this information in mind as you read on.
My wife and I have struggled for 10 years trying to get someone to make a diagnosis. The progression has gotten to the point of potential disability. Last week my wife and I took our son to Shriners Hospital for Children for an intake exam. After completing the intake schedule Shriners accepted him for treatment.
After struggling for 10 years it only took Shriners 1 day to answer so many questions.
What did Shriners find?
Several items were discovered and a preliminary diagnosis (pending results of a neurological test) was discussed.
1) Spina bifida occulta -
http://en.wikipedia.org/wiki/Spina_bifid...2) Spondylolisthesis -
http://en.wikipedia.org/wiki/Spondylolis...3) CMT (Charcot-Marie-Tooth) -
http://tinyurl.com/4p93f8g The Spina Bifida and the Spondylolisthesis are confirmed on his xrays. My son is being scheduled for a neurological test called a EMG.
Electromyography -
http://en.wikipedia.org/wiki/Electromyog... Once the EMG has been performed the doctors will either confirm or rule-out CMT. At that time we will continue on with a treatment plan.
Due to the progression over the last 10 years. Major surgery is a high probability. If CMT is confirmed, it is a disease without a cure and falls into the Muscular Atrophy category. For the most part CMT is not a fatal disease. It does however affect the person for their entire life.
I can't help but to ask how many "red flags" have to be waving before the "professionals" can see them?