We have been working with Dr. Tomatsu now for over 18 years now. Dr. Tomatsu, Ph. D Professor is our chief Medical Advisor at The Carol Ann Foundation as well as conducting research for the 2nd Generation of drug for the treatment of Morquio A on the bone.
Our Story began in October of 1995 when my daughter, Carol, was first diagnosed with Morquio A. At that time, we lived in the small town of Sedona, Arizona. We were miles away from a good hospital, let alone what I would consider a good doctor. So like most parents, I didn’t believe the first diagnosis, nor the second or third but after the third doctor pretty much repeated what the others had already said; I did begin to be truly shaken. That’s when I started doing research and a lot of it too. I collected as much as I could from Medical Libraries, although, it’s set up for Doctors, so I simply said I was gathering information for such and such a doctor. No one ever questioned me.
It wasn’t long before I realized there isn’t a lot of information out there about Morquio Syndrome. And what’s more, all the research articles were about worst case scenarios. But in the beginning I didn’t know this. I thought, “oh my God, this is going to happen to my daughter”. Finally, I contacted a doctor at the University of Minnesota who I found through my reading. I wanted to know what he knew about Morquio A, and especially who is doing research. At first he told me he wasn’t even sure anyone was, then he said he’d check into it and get back to me. I heard from him in three days’ time, it seemed like a life time; and he told me Dr. Tomatsu had just recently moved to the States from Japan and was doing research. So I contacted him straight-away.
After some correspondence, I went out to see him. At his time,Dr. Tomatsu and I created a questionnaire to learn more about morquio patients. This questionaire became a data base. We started with 17 patients and now we have over 400, 17 years later!
But it is a rare disease which is now classified as an orphan disease. The National Institute of Health sets aside funds for this type of disease. Sounds good but there are over 5,000 different diseases categorized as orphan. So how does one go about getting funding for research from NIH?
We didn't know so we created The Carol Ann Foundation to raise money for research ourselves. And here we are today. My daughter is 21 years old, actually turns 22 this August. What a long journey it has been. Yes, she is in a wheelchair. But as my husband always says to us, Carol is the most abled disabled person I’ve ever met. Carol drives a truck, works, attends classes and this year will be moving 100 miles away attending another school. She will be moving into her first apartment this year. She is working at getting licensed in Mortuary Science. She volunteers at Hospice and also at a funeral home.
When I first wrote this “Our Story” for our website a long time ago I remember the heart ache and challenges that went with this journey. But now I see it different. I see what a beautiful young woman she’s become. So independent and full of life. So full of energy with a desire to give back. Her hobbies are photography, painting and reading. She’s attended more concerts than I ever had! She keeps busy that’s for sure.
Being the parent of a child with morquio is not a death sentence. Life is different with more challenges no doubt. But all the people I’ve meet over the years have helped me grow to accept this life. It’s made me a better person. I’m simply a parent who’s proud of their kid just like every other parent.