My name is Lilli and I have a rare genetic disease called X Linked Myotubular Myopathy. It is a neuromuscular disease that causes extreme muscle weakness, breathing difficulties, and so much more. It is categorized as terminal due to the severity.
The gene wasn’t discovered until 2008.
X Linked Myotubular Myopathy affects 1 in 50,000 males.
That’s 0.002% of a chance.
In females diagnosed with MTM the number is far less, affecting <1 in 1,000,000.
That’s about 0.0001%.
To put that in perspective, 0.0001% is 8,000 people worldwide.
I am one of those 8,000.
My brother Andrew had MTM and passed at 6 in 2008. My son Dominic had MTM and passed at 10 in 2022.
You could say our family is pretty rare.
Over the past few years, I have rapidly declined. I have become completely wheelchair dependent. I’ve started having extremely painful spasms in my muscles, the inability to sit up completely without “drooping”, my feet have started to turn in and require orthotics, I have been diagnosed with dysphagia (difficulties swallowing), am unable to shower unassisted, and can’t be home alone because I am a fall risk and require home care, that my husband provides for me.
Because my disease is so rare, there are very few doctors that can properly treat it in the world. Most don’t even know what it is, and have to Google it when they learn that I have it. Imagine your dr having to Google your illness to treat you??
But there are specialists in Toronto Ontario. So we are raising money to move there. My husband is a natural born Canadian citizen and we want to apply for my visa so that I can move and be treated by specialists that understand my rare disease. Not only will I be able to see specialists, which will get me the BEST possible care, but I can participate in trials that can help others like me. As a rare case (an AFAB with MTM) it’s extremely important that I participate in these trials.
We need to raise enough funds for immigration fees as well as moving expenses.
I want to do this not only to live a long and better life, but to help future generations affected by X Linked Myotubular Myopathy. We can’t find a cure without as many of us in trials and studies as possible, and I want to volunteer myself to be studied in honor of my brother and my son that never got the chance to live their lives to the fullest. If I can give more people and children longer lives, then my purpose in life will be fulfilled.
