May 28, 2004

Our Story

We first found out about our daughter, Carol Ann, when she was 3 1/2 years old. We were in the pediatric doctors office on a routine follow up visit for a common cold that she was basically over at this point. But, I wanted to be sure it was O.K. to send her back to the Montessori School she attended a few days a week plus I was planning on going to work that morning. Neither of which happened on that day. Her primary care physician noticed a curvature in her lower back area but only upon a bend over position as He checked her lungs. What should have curved inward; curved outward and this was cause for concern. So the doctor proceeded to order the many x-rays and diagnostic tests required to see what was wrong with her bones. And here is where the first step of a devastating journey begins.

We went to the hospital straight away to take x-rays. We seeked out opinions from 5 radiologists and doctors in Arizona, unfortunately they all agreed that she has Morquio Type A. Our genetic counselor told us Morquio is a very rare, progressive and incurable disease. Looking back now, about 9 years ago, I still remember saying to myself to
Breathe. I remember telling myself this isn't real. And in that instant I knew our life has changed forever…

I began gathering and searching for information in the local libraries, bookstores, medical libraries, university hospital medical centers and finally I began pulling research papers on specific case studies of patients with morquio worldwide. What I discovered was how little is actually know about morquio and that many doctors had never heard of it, much less treated a patient. But most importantly, I learned how difficult it is to obtain current medical information and what is going on with research and who is doing it.

I learned the pathology of the disease. I learned how symptoms are followed over the years, charted and eventually dealt with, usually when the pain is unbearable. And as the problems progressed to a point where intervention was necessary and a child could no longer either walk or do simple tasks like other children. A very painful experience for any parent to witness that I would wish upon no one.

I came to find out that Carol Ann was missing a vital enzyme called keratan-sulfate. This enzyme breaks down sugar molecules in the body and because she is lacking this one enzyme these sugar molecules, or MPS's build up in different areas in her body. Mainly, her bones, especially her spine and joints as well as her heart and lungs. Usually, children with Morquio stop growing somewhere around the ages of 8-13 years old. When my daughter was 10 she was in a wheelchair. Although, she does get A's and B's in school it is heart breaking to watch this disease ravage her small body year after year.

I remember in the beginning how frantic, alone, and lost I felt. I had to do a lot of digging for information that I felt was my right as a parent to have to be able to help my daughter. But this was not how things were just 10 years ago. I shutter to think how bad things were 20 years ago compared to now. I wanted answers and it seemed like no one had them at the time of my daughter's diagnosis. Many well-meaning doctors simply shook my hand and said "good luck". As I delved into reading case histories from years ago, back in the 1960's, I realized I was reading only the worse case scenarios, which was the reason for doctor's interest in the first place because the cases were out of the ordinary and/or unusual.

So I pieced together as much as I could to try and get a handle on what was happening to Carol Ann. Although, the more I learned the more I realized the unknown mysteries involved with morquio. So many questions, so few answers. As all the information began to pile up, I knew it would have to be scaled down and reformatted so that anyone would be able to comprehend it easily. A nurse's textbook manual was without question a vital ingredient, as well as various medical dictionaries and with the Internet things began to fall into place somewhat. Plus having Norma Pospisil, a wonderful nurse who volunteered her services, to help translate all the medical jargon into readable material,
was truly a godsend.

Through our geneticist, I contacted and joined the MPS Society. The MPS Society is a good organization geared more towards medical research. They put me in touch with a Dr. Chet Whitley, A geneticist from the University of Minnesota who helped answer more of my endless questions on Morquio. He then put me in contact with the biochemist researching Morquio, a Dr. Shunji Tomatsu. Dr. Tomatsu and his mentor, Professor Orii from Gifu University in Japan, have been studying Morquio for over17 years and treating patients for well over 40.

At this point I created a questionnaire and then put together a web site. Morquio.com
I posted the web site in hundreds of search engines throughout the Internet. Once the lines of communication were open between Dr. Tomatsu and myself, He helped me add more specific medical questions to the questionnaire. Then as more people found me and I them, replies started to come in from people with Morquio all over the world. I began to receive the filled out questionnaires and then we created a natural history medical database with detailed information on each patient for Dr. Tomatsu to analyze. So with a modest beginning of 17 people, the morquio support group was launched. The group grew into what is now over 350 members worldwide. It's taken about 10 years time but as the support group grew, I realized that there was not only a need for education but also a need to be able to raise money for research for Dr. Tomatsu and to offer a list of experienced medical doctors and specialists to families. So this is where the idea of creating a non-profit organization called The Carol Ann Foundation came into being.

I also joined another wonderful organization called The Little People of America, LPA. This is a much larger organization than the MPS Society. They have many involved volunteers with positive and helpful attitudes that make their National Conferences so worthwhile to go to especially because it is such an excellent social connection and outlet for families with short stature children and adults.

At the conventions of The MPS Society & The LPA organizations I was able to put together small meetings and support group talks and break out sessions specifically dealing with Morquio. With these larger organizations I meet with other families who have Morquio children or adults with Morquio. It was a great place for these families to connect and have an open forum to ask questions of genetic counselors, physicians and researchers. It also allowed children to meet other like themselves and to have older adults with Morquio to be mentors for the younger ones effected. Sort of like showing that yeah, I have this disease but I can still function and do something with my life! This really opened the door; now parents were able to speak with other parents regarding emotional issues, surgery concerns and recovery time from operations. It also gave me a chance to meet with pharmaceutical companies who showed interest in what we were doing with finding these families with this rare disease of having Morquio. Some showed great interest in how I found these patients and how it all began. So this was good that there finally was interest, even if only to copy what I was doing, there was interest all the same and who knows where that would lead.

My goals have always been simple and my focus specific. I believe there is no limit to what the heart and mind can accomplish. With informed, current medical knowledge all these children will live a happier, fuller life and a future filled with promise!

I never want any new parent to go through what I went through. The news of having your child diagnosed with a rare disease is hard enough to bear without adding unclear, unanswered questions hanging in the air.

Parents need a place to go to with informed current medical information at their fingertips. A place where all their questions can be answered in easy to understand terminology. People that will support them during this turmoil especially in the beginning. A place that will steer them towards the proper specialists with confidence.

I want parents to have a place where they know they aren't alone. Where people care and truly understand their situation. Who more qualified than another parent whose child has this same disease? And who more experienced than Dr. Tomatsu (over 17 years) and Professor Orii (over 40 years) who have been researching and helping patients with this rare disease?

I hope in some small way that The Carol Ann Foundation provides this and especially hope because I do believe it is a lifeline for parents and those effected with Morquio Type A.

Update:

It took me awhile to understand what it means to have a child with a rare disease. At first, I was so angry that doctors didn't know a lot about Morquio. Then I finally had an insight. How can I expect all doctors to be an expert in every rare disease when I came to find out that there are over 5,000! We as parents must do our homework. We as our child's parent must research to find the best doctors and specialists available. We must seek that second opinion when a doctor says surgery is needed. We as parents must support each other and help each other as much as possible.

It also took me awhile to understand pharmaceutical companies. At first I was angry and confused as to why they didn't support our cause straight away. Then I came to realize the extent of hoops and mazes the Food & Drug Administration requires of these companies to get a drug approved. Not to mention the astronomical costs that does not guarantee a "patent approved stamp" on it in the end. And I haven't even gotten into the amount of time and staff the pharmaceutical companies has allotted to just one drug. Now I am grateful to the competition between companies in that it keeps research moving forward to discover new treatment ideas and find cures for rare diseases. Dr. Tomatsu and I have learned that by having the natural history database we are one step ahead of the game. With growth charts, continuous patient updates, blood and DNA samples, finding funding on our own; that now the pharmaceutical companies have stood up and taken notice and are more willing to invest in us because we have already invested so much time and effort of ourselves.

And finally, it took me a long time and only really recently, to ask other families for help to raise funds for research. I was of the opinion that one never asks for help. To always do it myself otherwise it's looked upon as a personal weakness. But, I've grown up since October 18, 1996 when my own daughter, Carol Ann, was diagnosed. I like to think I'm better person than I was back then. I do know one thing though and that is that people will and want to help - all I ever needed to do was ask.