For the third year in a row, families with children affected with Rhizomelic Chondrodysplasia Punctata (RCDP) , descended on Chesnut Bay Resort in Leesburg, Al. RCDP is a rare, genetic form of dwarfism that causes an array of health problems for the affected children, among them are cataracts, shortness of the proximal bones, feeding complications, and some have heart issues as a result of the diagnosis. Perhaps the most devastating of all the RCDP related issues is the short life expectancy for these children, for which there is no cure and no treatment.

In 2007, when two boys were born with RCDP at St. Vincent’s Hospital in Birmingham just five weeks apart, the two families decided to combine forces and help find a cure. Ian Ellis from Centre and Jackson Thomas from Sylacauga were the only two children in Alabama with this particular form of dwarfism. Months later, moms, Mary Ellis and Tracey Thomas, formed RhizoKids International, a 501 (c)(3) charitable organization, dedicated to raising money to help find a treatment or cure for their children and other affected children.

After contacting RCDP researcher, Dr. Nancy Braverman at McGill University in Canada, who offered to come to Alabama and examine the two boys, three additional RCDP families were located via the Internet who also came to the May 2008 meeting in Birmingham to have their children examined.

This was the beginning of a yearly conference funded by RhizoKids International to bring the researchers and doctors together with the affected children. For the past three years the meeting has been held at Chesnut Bay Resort.

RhizoKids International has been raising money in a variety of ways by all of the families involved in hopes of helping to fund research initiatives presented by the doctors and researchers. This year’s conference provided the opportunity RhizoKids International has been waiting for. Three proposals from the doctors in attendance have already been approved for funding by the RhizoKids International Board and promising new research for RCDP is soon to begin.

For years RhizoKids International has hoped to fund the creation of a natural history study, or registry, of all children with RCDP. Being able to understand the natural history of a disease, including its characteristics, management, and outcomes, is vital to developing new therapies and hopefully improving the outcomes for affected children. Dr. Michael Bober, from Nemours/Alfred I. duPont Hospital for Children in Wilmington, Delaware, has offered to oversee the creation of an RCDP registry, as well as house the registry at duPont. This is a request that RhizoKids International is happy to fund because it is a positive first step to collecting common data on each child.

Finding treatments or therapies for affected children has remained one of the primary goals of the organization as well. Dr. Paul Wood, from Lincoln Memorial University in Tennessee, has worked for several years on a drug cocktail that will address the primary issues contributing to the early mortality rate of RCDP children. Dr. Wood is finally ready to begin some tests that will involve RCDP children taking krill oil, which will be evaluated for its effectiveness to carry the drug cocktail into the brain of affected children.

Any work that Dr. Wood completes will be dependent on first trying the effects of all drugs on RCDP mouse models, under the direction of Dr. Nancy Braverman at McGill University in Canada. Dr. Braverman has worked for years on developing mouse models that can be used in clinical trials for RCDP drugs and it is her work that Dr. Wood credits as being the key to finding a cure for this disease. According to Dr. Wood, “Nancy is the key driving force for all of our RCDP programs, both historically and as we move ahead.” Funding requests for Wood and Braverman’s research projects was a no-brainer for the group who has waited for the opportunity to actually help push an RCDP drug through to clinical trials, and now sees that it may actually happen for their children who have no time to lose.

With three exciting projects to fund, RhizoKids International will once again begin fundraising for the next year. Having a goal and promising research in the works has renewed the enthusiasm for RhizoKids International families, many of whom have already started planning their next fundraiser. With this kind of momentum, a cure for RCDP may be on the horizon. Wae and Mary Ellis’ son Ian Ellis passed away almost three years ago from RCDP but their family continues their work for Rhizo Kids for hope of a cure in his memory.

The family will have a 5K fundraiser in Centre in a few months with the goal of raising $15,000 to help fund more research for the doctors. Keep a look out for the date which will be advertised in local papers. If you would like to send a donation for Rhizo Kids International you can mail them to 7721 AL Hwy 9 South Centre, AL 35960.