Hi, my name is Lindy and Iâ€™m a patient partner for this yearâ€™s Genzyme Running for Rare Disease Team. Lisa Valaika is my running partner.
Â Iâ€™d like to share with you what itâ€™s like living with a rare disease. I was going to write this yesterday but I suffered a seizure and that took me out of commission for the rest of the day. I never know when a seizure is going to hit. I also donâ€™t know how it will end, or what I will be like when it does. You see, Iâ€™m actually living on borrowed time. Iâ€™m 34 and wasnâ€™t supposed to live past my twenties.
Â I have the juvenile form of Metachromatic Leukodystrophy: MLD for short. Everyone, including me, thought I was a normal child. At around the age of 8, I started having social problems and problems following through with anything that required a series of steps. My parents thought I was being defiant or that I had a brain tumor; but I really didnâ€™t know what was happening to me. I explained it once â€œlike being on a merry-go-round and not being able to get offâ€. I was very smart and strong willed so I would make-up good excuses for my behavior.Â
Â When I finally had an answer for what was happening to me, it wasnâ€™t very encouraging. My disease is progressive and terminal. I used to write and illustrate stories, talk and dance. Today I canâ€™t do a whole lot for myself. I need help with everything and I spend my days in a wheelchair although I still can do stairs if I have lots of help. Iâ€™m a fighter and as I said, Iâ€™m stubborn. Iâ€™m not letting the doctorsâ€™ prediction get me down! I communicate through my eyes and my smile. I live with the knowledge in the back of my head, that any day could be my last, one big seizure and it could all be over but until then I want to be live life, be happy and educate people about my disease. Today, there are clinical trials happening in Europe and they are looking good if the disease is caught early enough. I know itâ€™s too late for any treatment to help me, but Iâ€™m proud that my parents are fighting for others with my disease. Check out the www.MLDfoundation.org to learn more.
Â Living with a rare disease is hard. Iâ€™ve had so many abilities taken from me but Iâ€™m more than my disease and it doesnâ€™t define who I am. Iâ€™m so happy to be partnered with Lisa and together we will make a difference!
Lindy thank you for being a beautiful storyteller. I’m glad you were able to share this today. Thank you for making the effort to paint a picture of MLD. I knew nothing about this condition until reading your words.
Thank you Emma. I hope lots of people learn about MLD, Metachromatic Leukodystrophy. It affects all ages. I have the juvenile form so the degeneration of my myelin and loss of abilities happens slower but the most common form, late-infantile, occurs in children around 9 to 12 months and most pass away before they are 5 to 7 years old. It’s a heart-renching disease. The most comprehensive information about this disease can be found at http://MLDfoundation.org
Lindy, thank you so much for sharing your inspiring story with the RFRD community. It is wonderful having you part of our awareness team.
We heard so many amazing stories from runners and patient partners at last year’s marathon banquet. They were all so moving and inspiring, but the story that touched me the most was a father sitting at my table who had lost his son to MLD. Until then it was a disease I’d never heard of but I went home and looked it up right away. He was a board member of NORD and it wasn’t a story he got up to tell in front of the whole room. In fact he didn’t even mention it until an hour and a half into dinner. It really impressed upon me that these aren’t just suits in a boardroom collecting checks, the people at NORD have lived this and really “get it”.
Thanks so much for sharing Lindy,.I followed the logs of children w other forms if Leukodystrophies but never J-MLD.
Thank you for sharing,
Thank you so much for sharing your story. You are an inspiring to me as I raise a little guy with rare disease. I have always been in awe of the resilience children with chronic illness embody and you just put that in words.
Thank you for what you wrote. I want to clarify that MLD, Metachromatic Leukodystrophy, is a rare, progressive, terminal disease with not treatment or cure yet. I hope your little guy is lucky enough to have one of the rare diseases that are at least treatable.
You are an amazing woman and an inspiration to us all. I am the person Beth mentioned in a previous post. Although I am not a board member of NORD I am the director of development. I am proud to be an advocate in this community and promise to continue to fight until my last breath in honor of my son Trevor, you and the millions of people affected by these horrible diseases. Together we can truly make a difference. Bless you.
GO TEAM GENZYME!