Raising Rare Boys: Oh hey, we're 43

43 years ago a group of parents gathered at John Hopkins University to support each other and talk about the MPS/ML diseases.* That same month of the same year a baby was born in Cleveland, Ohio carrying a gene mutation that causes Hunter Syndrome (MPS II) when passed to boys. That baby was me. If that's not a coincidence, I don't know what is. Eventually those parents would form what is known today as the National MPS Society known for a legacy of supporting families facing this incredibly difficult diagnosis.

My Parents

When I was a baby, my great grandmother, a nurse and an orphan, held me and said, "this baby has something to tell the world". Boy was that an understatement! I think about my parents often and I wonder how they would have responded to a child with Hunter Syndrome. At that time,in 1974, there wasn't a treatment for Hunter Syndrome and very little was known when compared to what we know about the disease today. It was luck that I was born as a girl for many reasons but the biggest one being that the mutation didn't effect me because my other x chromosome was fine. This allows me to produce the enzyme my body needs to act as the garbage truck that purges cellular waste from my body. If you don't have a functioning garbage truck, the waste builds up in your body damaging many of your body's systems. I carry this disease though, and had no idea because it spontaneously started when I was born (de novo) . This is why there isn't a legacy of Hunter Syndrome in my family, it began and could have ended with me. The very harsh reality is that it is very, very probable that I would not have lived very long (if I had been born as a boy). I would have potentially faced death around 10 years of age possibly later if lucky. My parents would have been coping with the loss of a child in their 30s. Not to mention my Dad had a decade of health struggles himself that were incredibly difficult for our family.

Having a child at my parents age and time was hard enough, I couldn't imagine how having a child with a disease with a stark life expectancy and an expensive but shortened lifetime of medical costs would have changed everything. It could have changed the trajectory of their family, and their whole lives, but it didn't. Really they got lucky too, they dodged the genetic roulette. It lied in wait for me. Not only did it lie in wait, it waited to show up until I had my second son giving me a false sense of confidence that I could have healthy children.

I am incredibly grateful for the National MPS Society who has been doing this much longer than me, much longer. They were supporting families while I was a toddler. They were fundraising and pushing for treatments longer than me. They were there when the first treatment for Hunter Syndrome became available to patients! They've experienced much more loss than I have in my lifetime. They've inspired parents and caregivers to make their voices heard, to push when no one else will for their child.

So when you wish me "Happy Birthday", I am torn because due to my birthday this disease exists in my family. I am grateful for my life. I am grateful for my family and friends. I am grateful for my husband and my sons. I see life through a different lens than I used to; a more hopeful, humble, grateful perspective. Without living, there would be one less sister in the world, one less girl who almost always has a smile on her face, one less college graduate, one less hard worker, one less mother and wife, one less person who desires only to make a difference in the world, to "tell the world something". Perhaps if I wasn't here, Dan would have married an Australian Olympic volleyball player who actually comes close to matching his height that could have happened but instead he's happy to get things down for me I can't reach. I am torn because I feel that it's very unfortunate that I have passed this mutation along, and as a result it's made my children's lives harder. Don't leave this devastated or sad because I am not. I was also born to persevere and overcome. The best thing you can do is keep reading, keep talking about what we're doing, keep supporting us in so many ways! Why stop now, when we've made it through so much and we have so much more to do! I believe we can see a cure for this disease in my lifetime, after all I think I owe that in the very least to my children. I am saving my biggest smile for that day!

Thank you for the birthday wishes, and thank you for another year of really living. Happy Valentine's Day Eve for my name means "beloved by all".