The diagnosis; beginning: 1995 and how The Carol Ann Foundation started
I.Diagnosis: The day of fate
We first found out that something was wrong with our daughter, Carol Ann, when she was 3 1/2 years old on October 18th, 1995. We were in the pediatric doctor’s’ office on a routine follow up for a common cold that she was basically over at this point. I was fairly certain that her cold was over and I was planning on going to work that morning; nevertheless, I wanted the doctor’s consent to send her back to the Montessori School she attended a few days a week - neither happened that day. Her primary care physician noticed a curvature in her lower back area, only noticeable when she bent over as he checked her lungs. What should have been curved inward was curved outward, causing a concern in the physician. So he proceeded to order many x-rays and diagnostic tests to see what was wrong with her bones. Here is where the first step of a devastating journey began.
We went to the hospital straight away to take x-rays. We requested opinions from 5 radiologists and doctors in Arizona. Unfortunately, they all agreed that she had Morquio Type A. Our genetic counselor told us that Morquio is a very rare, progressive, and incurable disease. Looking back now, about nine years ago, I still remember saying to myself, “Breathe, this isn’t real” but in that instant, I knew our lives had changed forever…
Carol at 3.5 yrs. old
II.Beginning: Way out from Ground Zero
I began gathering and searching for information in local libraries, bookstores, medical libraries, and university hospital medical centers. Finally, I began pulling research papers on specific worldwide case studies of patients with Morquio. I discovered how little is actually known and that many doctors have never even heard of it, much less treated patients with the disease. But most importantly, I learned how difficult it is to obtain current medical information and the research being done.
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. As the problems progressed to a point where intervention was necessary, a child could no longer walk nor do simple tasks a very painful experience for any parent to witness - one I would not wish upon anyone.
I came to find out that Carol Ann was missing a vital enzyme to digest sugar molecules, keratan-sulfate. This enzyme breaks down sugar molecules in the body. Because she is lacking this particular enzyme, the sugar molecules, (mucopolysaccharides, MPS) are building up in different areas in her body -mainly, her bones, spine and joints. Eventually, even her heart and lungs can become affected. Usually, children with Morquio stop growing somewhere around the ages of 8-13 years old. When my daughter was 10, she started living her life in a wheelchair. Although, she does get A's and B's at school, it is heart- breaking to see this disease ravage her small body year after year.
I remember how in the beginning I was frantic and felt lost and alone, as a parent, I felt a duty to do a lot of research to help my daughter as much as possible. Sadly, this was not how things were 10 years ago. I shudder to think how bad things would have been if this were 20 years ago. I wanted answers and it seemed as 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 the 1960's to the latest, I realized that I was reading only the worse case scenarios the reason for doctors’ interests in the first place because the cases were so out of the ordinary.
So I pieced together as much as I could to try and get a handle on what was happening to my daughter 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. I could not have done it without Norma Pospisil, a wonderful nurse who volunteered her services, to help translate all the medical jargon into the readable material – she was truly a godsend.
III.Straight light: meeting Dr.T and establishing foundation
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 University of Minnesota who helped answer more of my endless questions on Morquio. He then put me in contact with the biochemist and pediatrician researching Morquio, Dr. Shunji Tomatsu (Dr.T) at Saint Louis University in Missouri. (Dr.T moved from Gifu, Japan to St.Louis in 1995 coincident with the timing when Carol was noticed of having something wrong). In those days, Dr. T and his mentor, Professor Tadao Orii at Gifu University in Japan, had been already studying Morquio for over17 years and treating patients for well over 30 years. I always remember Carol and myself happily visiting Dr.T’s place immediately to talk on his Morquio research and how to collaborate with him. Indeed, at that time he was the only person who has studied Morquio.
At this point, I created a questionnaire and then put together a web site, www.morquio.com. I posted the web site in hundreds of search engines throughout the Internet. Once the lines of communication were open between Dr. T and me, he helped me add more specific medical questions to the questionnaire. Then, as more people found me and our web site, 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 historical medical database with detailed information on each patient for Dr. T to analyze. So with a modest beginning of 17 people, the Morquio support group was launched on November 1st, 1996. The group grew into what are now over 350 members worldwide. It has taken around 12 years until now to reach here. 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 Dr. T’s research and to offer a list of experienced medical doctors and specialists to the families. So this is where the idea of creating a non-profit organization called The Carol Ann Foundation came into being on December 10th, 1999.
Carol on left at 5 yrs. old
IV.Learning: knowing each other
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 with breakout sessions specifically dealing with Morquio. With these larger organizations, I met 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 our children to meet others like themselves and to have older adults with Morquio to be mentors for the younger ones. The older adults showed the children “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, surgical concerns, and recovery time from operations etc. It also gave me a chance to meet with pharmaceutical companies who showed an interest in what we were doing with finding these families with this rare disease Morquio. Some showed a great interest in how I found these patients and how it all began.
Carol at age 6 yrs.old 7 years old at national MPS meeting (1999)
V.My dream and goal: giving hope to Morquio kids
My dream and goal have always been simple and my focus has been 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. There must be a place where all their questions can be answered easily to understand terminology, where people will support parents during this turmoil especially in the beginning, and where the parents will be steered towards the proper specialists with confidence.
I wanted parents to have a place where they know they aren't alone, where people care and truly understand their situation. Who is more qualified than another parent whose child has this same disease? When I launched the foundation, who else is more experienced than Dr. T and Professor Orii (over 40 years) Now with a strong will, Dr. T (25 years’ commitment of his life) and his excellent colleague, Dr. Adriana Montano (12 years’ commitment) are working very hard with the Morquio Dream Team to achieve the dreams and goals together.
I hope in some small way that The Carol Ann Foundation provides help and especially hope because I do believe it is a lifeline for parents and those affected with Morquio Type A.
VI.Update: what we know now and what we should do from now
It took me a while to understand what it means to have a child with a rare disease. At first, I was so angry that doctors did not know anything about Morquio. Then, I finally had an insight. How can I expect all doctors to be an expert in every rare disease? I came to find that there are over 5,000 rare diseases! We, as parents must do our homework to take care of our children. We, as our child's advocates, must do 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 and help each other as much as possible.
Carol in the middle at 9 yrs.old
It also took me a while to understand pharmaceutical companies. At first, I got very angry and confused as to why they did not support our cause straight away. Then, I came to realize the extent of hoops and mazes these companies went through in order to get a drug approved by the Food & Drug Administration. Not to mention, the astronomical cost does not guarantee a "patent approved stamp" on it in the end. I have not 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. The competition keeps research moving forward to discover new treatment ideas and find cures for rare diseases. Dr. T and I have learned that by having the natural history database we are one step ahead of the game. Due to the growth charts, continuous patient network and updates, blood and urine samples, finding funding on our own, the pharmaceutical companies have stood up and taken notice of us. They are finally willing to invest in us because we have put so much time and effort by ourselves.
VII.Past and Present: not alone any more, working together
Finally, it took me a long time, and only recently, to ask other families for help to raise funds for research. I was always one to never ask for help – to always do it myself. Receiving help was something I looked upon as a personal weakness. But, I have grown since October 18, 1996 when my own daughter, Carol Ann, was diagnosed. I like to think that I am better person than I was back then. I now understand that people will and want to help – all I ever needed to do was ask. Through our activity on Morquio, I have met and known a number of Morquio patients and families that are
giving people who have much passion. I feel strongly that we are connected to each other and that we have to work together on behalf of Morquio children.
Carol at 10 yrs.old
VIII. Life with Morqio: my destiny
Carol is 15 years old now and she has truly grown into a very bright and happy girl. She is in 10th grade and gets A’s and B’s. She has many friends and has a very good sense of humor. Outside of putting her wheelchair in the back of the van and not going to soccer practice, everyday life for us is the same as any other child of 15.