Tell us about Marc’s diagnosis.
Ptls/CMT1A - Potocki Lupski Syndrome & Charcot Marie Tooth
Could you please describe your feelings when you received Marc’s diagnosis?
I felt shock disbelief and how was going to be able to care for him .
What Difficulties does Marc face?
Feeding issues , can not speak , low muscle tone, developmentally delayed, cardiac issues , spine issues
What are your worries / thoughts for the future?
already know he will need someone with him always I am scared for that
What kind of things does Marc enjoy doing?
Movies , going to the Disney parks , being with family ,iPad
Why is research & a potential treatment for PTLS important to you & your family?
I would love to be able to help Marc live a better life