I’m a 27 year old mama to my 7 year old Andrew. It’s always just been the two of us, from my pregnancy to writing these words. My son and I both live with rare disease. Just one is genetic, but as you may or may come to learn when you have a genetic disease there are other diseases that are co-morbid. They’re like cousins. Related to each other but not from the same direct family.
I have Ehlers-Danlos Syndrome, Dysautonomia, Gastroparesis, and Complex Regional Pain Syndrome. I have a laundry list of other diseases that are not rare, you’ll see me talk about them especially when I talk about my central line. My 7 year old has Ehlers-Danlos Syndrome and Mastocytosis. He also has Autism as well as chromosome abnormalities that cause an unspecified neurodevelopmental disorder. Shout out to ADHD. Ehlers-Danlos Syndrome is the only genetic condition.
Our lives are complex, but we are happy.
Let me let you in on a little secret. Your mental health is the difference between carnal despondency and surviving. Then we focus on not just surviving but thriving. We can do this together.
I'm lucky to have doctors that understand, and care for rare disease. As an advocate, I have met with members of both sides of Congress on behalf of multiple House Resolutions. I'm available to help you find a physician that is willing to take on a rare disease patients. Just email me.
Autism is so much more than a puzzle piece sticker on the back of a car.
1 in 59 children have Autism.
Children with Mastocytosis (my sons rare disease) have a much higher prevalence of Autism.
This is Andrew, aka the happiest child on earth. "It's the best day ever" is his theme song (Thanks Spongebob!)
He's 8. He's my world. He's so kind.
Your chromosomes are what makes you, you. Chromosome abnormalities mean that there is sort of a glitch in the matrix of your DNA. Something is different.
You can find Chromosome resources at