The Birth of the JSF&RCD:
 

My children were born in 1983 (Stephanie) and 1986 (Timmy) and there was no foundation, no doctors that knew anything about JS. I felt isolated and alone. After perseverance I went on a mission to find others. By 1990 I found 1 mom in Virginia, Joanne Eastwood and a year later we found 1 more mom, Mary Van Damme. The 3 of us together sat at our kitchen tables and started a much needed organization.

We sent letters all over the United States, describing JS. With in a year we grew to 12 families, then we started to double over time. Our next step was getting our word and mission out to scientists all over the world. I found out through a Neurologist in Baltimore about the Child Neurology Society meeting, so I packed my family up and we traveled to Orlando, Florida to exhibit at this meeting. We had no exhibit board, just pictures and a newsletter. We had very little material.
 

From this meeting, we ran into Dr. Bernard Maria, who diagnosed my daughter in 1985 with help from Dr. Eugene Boltshauser from Switzerland. I was at the right place, at the right time. I enticed him to follow me on a journey (didn’t know it at the time) to help me further research on this very rare disorder. Together we planned a conference in Orlando the following year, bringing in top scientists who examined and tested about 15 children. From this meeting, there was the discovery of the “Molar Tooth.” This became the diagnosing symbol for JS. Together we formed a partnership to do much more research on different aspects of the syndrome that had never been written about or described in literature. Only a family living with JS can describe what our children live with and go through on a daily basis. It is through our experiences of daily living with our children that we can tell scientists what research needs to take place.

As the years went on, we were able to gain the interest of the National Institutes of Health in Bethesda, MD. With the financial support of a grant at NIH, we went to Montreal, Canada (the birthplace of JS) and held the first ever Joubert Syndrome Symposium. This was in 1998. Lots of good things came from this meeting, including being able to meet the youngest member of the first family described in the first piece of literature describing JS.
 

While all this was taking place, our family was dealing with a lot of behavioral issues with Stephanie. This meeting was very instrumental in getting help for her. There was a doctor watching as our daughter struggled with these behaviors. Dr. Eileen Fennel came to me saying she thought Stephanie would benefit from medication in the anti-psychotic drug family. Bringing this information to Dr. Maria confirmed she should be started on Risperdal. This drug was a miracle drug and changed our daughters life. She started to show improvement in just a few short days. The reason I bring this up is because it emphasizes the point that I believe things happen for a reason and you meet people along the way for a reason. That meeting was a blessing for us in more ways than one. From this meeting, Joubert Syndrome was put on the map, in the eyes and minds of many world renowned specialists. These relationships continue today.

As a foundation we have redefined JS. Changing the literature from a once very grim diagnosis, to now giving physicians and families a more realistic picture. We have gained the interest of many top specialists in the field of Genetics that have now discovered 5 genes to date (the 5^th gene was just described in June—an article will soon be available).
 

Since the early days we have accomplished much, but so much more work still needs to happen. Much of our success has happened because our families help us in spreading the JS word, in teaching specialists that there are children behind each article, and in donating blood samples. They are real people who contribute so much to showing everyone what they have accomplished and, at the same time, teaching us what more research needs to take place.

Since the beginning our foundation has gained much awareness and we have accomplished many things such as:

Our foundation still has a long way to go. We still have many things to accomplish. One goal I have is to be able to fund research. We have been fortunate to have researchers donate many hours, and dollars, to JS research without receiving much financial support. I would love to be able to have our foundation support research in many more areas that we still do not have answers or better treatments for—such as kidneys, behaviors, and eyes.

I continue to attend scientific meetings— putting our name out there. In the next few years, I hope to attend conferences for Nephrology, Neuro-behavior, and Ophthalmology. Our goal is to encourage more research in these areas.

On another note, I feel sad that the foundation is not able to have a 2008 conference. This was a very difficult decision for the board to make. Below is a summary, written by some of our board members, explaining the decision to postpone the conference.
 

On a happier note, Happy Anniversary JSF&RCD!