Rylan - Rare Mitochondrial Disease Warrior

By Ishani, SLC25A46, United States, February 28, 2019

Rylan

Diagnosis Day
February 11, 2019

Today, in honor of Rare Disease Day, I would like to share our story. 

For the past 4 years, since Rylan was born, we have been in search of a diagnosis. 
Two weeks ago...after years of waiting...we finally got our answer. 
Rylan has been a participant in Harvard's Research Project- the Undiagnosed Diseases Network- for the 2 past years. They take on only the rarest cases around the globe in hopes of helping families find a diagnosis. Over the two past years we have done countless tests, sent in mounds of paperwork, and we have waited...and waited...and waited. 
They called us into their offices to share their findings and let us know that they discovered his diagnosis. I couldn't believe what was happening. 
We were finally going to get some answers to our magical mystery boy. 

Rylan is diagnosed with a very rare form of Mitochondrial Disease called SLC25A46 (it doesn't even have an official name yet). 
He is 1 of 10 people in the world that have been diagnosed with this disease. 
He is 1 of 5 people in the world with this disease that is still alive. 
His particular genetic mutation is the first ever seen in the history of medicine. 

The disease was discovered in 2015...a year after he was born. 
Collective symptoms of the disorder are neuro degeneration, optic atrophy, and axonal neuropathy. 
I have been in a whirlwind of emotions. 
I am relieved that we finally have answers and strangely, I'm a bit sad that he's no longer undiagnosed. I guess there was some strange comfort in the unknown. 

Today is a day to raise awareness for rare diseases like my little boy's and to give you some perspective. Rylan is 4 and at his young age, he has been through so much and overcome obstacles that we, as adults, will never have to face in our lifetime. 
Today, as you use your legs to walk...as you open your eyes to see...as you reach out your arms to hug a loved one...think of all the little gifts you have been given. 
You may not even realize these are gifts. 
You may think your abilities are an innate right to living this life. 
Children around the world with rare diseases fight to do these little things that we take for granted every day. 

Right now, my child's disease is 1 of 10 ever recorded in the world. 
I am making a promise to him today- to help fund research for his disease...to continue to spread awareness...to find others out there like him...to stay at the forefront of revelations in science....to believe in the miracle of him...to be a gangster mama....and to do it all with love, light, and positivity. 

So today, make a choice to live your life to it's fullest.
Enjoy the abilities you have been given. 
And please share my message. 

Alone we are rare, #TogetherWeAreStrong
#RareDiseaseDay
#ShowYourRare

Share this

Share your photos, videos and your experiences!

Be part of Rare Disease Day by sharing your story with others and sending a message of solidarity! You can write about your story and also submit photos or a video testimonial.
X

Share your story




(To find the english name and more information about your disease, click here). Start typing the English name of your disease. Please choose from the suggestions that appear. If your disease is undiagnosed please write ‘undiagnosed’, or if you would like to list multiple diseases, please type in a list separated by commas.