Bill and I have been married for 12 years - he has known about his Marfan Syndrome diagnosis since he was a young child. Grace was diagnosed 8 years ago. We have been at this "managing Marfan" thing for awhile now....we still learn new things about it every day but in general, we feel pretty confident most days.
Right now, we are experiencing another impact of having a rare disease. Grace is having some vision issues. I can't simply walk into any eye clinic and get the right exams for her. I can't assume that because they have degrees in optometry or opthamology, that they know how to treat a Marfan patient. We have an amazing optometrist who can make Grace and Bill's prescription work for them. We have a retina surgeon who we trust to save Bill's sight when his retina detaches - and this same doctor's group will watch Grace's retina too so we can catch issues early. The list of eye doctors who specialize in genetics and lenses and connective tissue disorders and pediatrics is incredibly small.
This week, I stared at the search screen not knowing what to search for or what I even need to find in a doctor. For the first time since I learned about Marfan Syndrome, I don't know who to call to help my Marfan love, my first baby. For the first time, I didn't have the answer to "so who is my appointment with next?".
This is where the network comes in. Posting in Facebook groups asking for referrals. Emailing friends of friends of friends who also have Marfan Syndrome and live in the same state hoping they might have a recommendation for you. Spending an hour on the phone with a world famous medical facility trying to make an appointment with someone who comes highly recommended only to find out the doctor left the practice, and no, no one has really stepped into that specialty yet.
The helpless feeling as you tell your child that you are working hard to find the right doctor. That she is doing great working around the challenge and that it will be okay but first Mom and Dad need some time to figure it out. It sucks.
Rare Disease Day. Take a few moments to learn about a rare disease - reach out to a friend who deals with one and ask about it. Find a way to support those affected by syndromes/diseases/illnesses that are difficult to diagnose, difficult to predict or difficult to understand. It's not hard to support those of us who deal with these things - a friendly text or email or Facebook message letting us know you are thinking of us and are cheering us on, ask a question to learn about what we deal with, spread awareness to your network to get other people learning and talking.
Learn about Marfan Syndrome at www.marfan.org. Or ask me. I am always happy to spread awareness about Marfan, talk about its impact on our daily life, and to tell people how to find out if you or a loved on has Marfan Syndrome or related syndrome. Know the signs - it saves lives!