Eleven years ago, the unspeakable happened.  After a particularly bad month of dealing with migraines, my neurologist decided it was time for an MRI.  My doctor wanted to make sure nothing unusual was going on inside my brain.   The MRI revealed multiple lesions in my brain stem and a larger lesion in the left frontal lobe of my brain.  While my peers were grappling with everyday middle school life, I was busy bouncing from appointment to appointment as doctors tried to figure out what was going on. After multiple tests, genetic tests, and a spinal tap, six months later we got the diagnosis of Alexander Disease.  Alexander’s is an extremely rare neurological disease, categorized as a leukodystrophy, a group of diseases that affect the white matter of the brain. The symptoms of Alexander Disease vary from person to person and while mine tends to be mild at this point in time, it still affects me.  I have had numerous episodes of choking, difficulties swallowing, and hiccups that would last for hours.  In my freshman year of high school, because I weighed only 51 pounds, a feeding tube was surgically inserted, and I was given extra nutrients at night to help me gain weight.  In my junior year, I had scoliosis surgery.  Scoliosis is common in people with Alexander’s, although in my case, there was a family history of scoliosis.

Support is one of the most important parts of life for people living with a rare disease. My parents have been my number one support system though my journey, and I hope to continue to give back to others who are also living with a rare disease. In 2011, I was granted a Make-A-Wish trip that has had a huge impact on my life. My parents, sister and I went to Disney World where I was able to work as a pastry chef in the lobby of the Grand Floridian Hotel. This experience inspired me to pursue studies in baking and pastry, and my parents have been supportive throughout college and my career. Six months after graduating Johnson & Wales University, I now work as a pastry chef at a French restaurant on Long Island, New York. I have my sights set on growing as a pastry chef and one day opening a bakery of my own. Make-A-Wish helped me to find my passion in life, and the people that I have met inspire me every day to work towards my goals and never allow my rare disease to hold me back.

I began volunteering for Make-A-Wish in order to give back to the foundation and all that they have given me over the years. I’ve met a lot of “Wish Kids” who have various conditions and meeting them inspires me to live life to the fullest. Some of these children are so young and innocent and it’s heartbreaking to see them have to go through what they do. A few months ago, I reached out to the son of someone my mom met through an online support group. He has Alexander Disease also, but his case is worse than mine. It is nice to be able to have someone to talk to that has gone through similar things I have and know that he understands my symptoms and story.

Although growing up rare has presented unexpected challenges, I am grateful to those who have helped me along my journey and inspired me to find my passion in life. Tackling life’s milestones while living with a rare disease can be trying, but it can be done. Never give up hope or allow your disease to hold you back from living a life of fulfillment. Reach out to others and know that you are not alone along your journey, because together we really are not so rare after all.

 

— Skyler DiPalma, Pastry Chef and Rare Disease Advocate, Make-a-Wish Volunteer

 

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