Rachele - loves telling the inspiring story of Zach. @AlbertMaruggi tracked Rachele down on Facebook.
Zach has a rare degenerative disease. He was perfect when born - life was good. At 18 months things starting going backwards.
The first concern of the pediatrician was Multiple Distrophy. He continued to regress.
The second neurologist took a look at the notes and sent them away for 6 months.
The pediatrician sent him back to the first neurologist. Agreed something was wrong. Still no solution.
New doctors but no diagnosis. a mis-diagnosis of cancer. 6 months of scans and no tumor was found.
Rachele started doing internet searches. Found a doctor in Illinois thought they found a diagnosis. but it turned out not to be.
Third misdiagnosis - myocondrial disease. A bad test led the doctors to advice he had a terminal disease.
After 5 years. INAD - for Zach it was ANAD.
the 6th MRI they found something. PCAN - 99% sure. But internet searches led Rachele to doubt the diagnosis.
Following the symptoms and pointed to INAD. Spoke to the Physician who had never heard of INAD. The Gene that identified this disease was found. This confirmed: Infantile Neuro Dystrophy. Only about 100 people in the world. Most kids don't live to 10. Only about 6 pkids in USA with the disease. His diagnosis is Atypical hence ANAD.
Navigating the Journey - Advice :
Pick your Quarterback.
- Don't sweat the small stuff
- Accepting help.
"It is never the trail it is what you choose to do with it that matters"
There is a lot of dubious information on the Internet.
Trust yourself and be persistent but don't get obsessed.
Use the Internet
Spread the story. Pass the smile on!
When you have a disease you have to realize you become the expert - above and beyond your physician. Patients and Doctors have to recognize this issue.
The Internet has been a huge resource for Research. Caringbridge has been a great support.
Rachele got annoyed with the "brush of" she received from doctors.
Coping with disease is a process.
How about dealing with the insurance companies. Actually didn't have many problems. Now in a disabled program. $6k/ month for a special IV but so far the IV is being paid for.
1 in 200k chance of
parents both having the same recessive gene.