INVITATION FOR PARTICIPATION IN A RESEARCH STUDY
McKusick-Nathans Institute of Genetic Medicine
600 N. Wolfe St.
Blalock 1012
Baltimore, MD 21287, USA
We are researchers at the Johns Hopkins Institute of Genetic Medicine. Our research involves studying the causes of variation in the symptoms of Nail Patella Syndrome (NPS). The ultimate goal is to identify genes that may predict the severity of NPS symptoms.
Fundraising
The fundraising efforts of Nail Patella Syndrome Worldwide Inc. are very important in raising awareness in the medical community as well as within the general population. So many people throughout the world either do not know that they have NPS or their information on this syndrome is severely limited. It is very difficult if not next to impossible for people to get adequate medical attention. This is not always the fault of the physician. There just isn't very much information available and what information that is circulating is often inaccurate.
NPSW has undertaken the task of raising funds to finance the publication of brochures containing the most up to date information about Nail Patella Syndrome available. These brochures are currently being written for families with NPS and their physicians. As more funding becomes available, a detailed brochure exclusively for medical professionals is being planned.
In the majority of people with Nail Patella Syndrome, the fingernails are partly or entirely missing (80-100% of cases). This is most severe on the thumb and decreases in severity toward the 5th finger. The crescent "moons" at the base of the nail are often triangular. Creases over the joint nearest the tip of the finger may be absent and fingers may seem double-jointed. The 5th finger may be slightly hooked (click here to see a picture). Toenails can also be affected but to a lesser degree than fingernails.
Knees:
Abnormality of the knee cap (patella) represents the second most common finding in NPS (60-100% of cases). In approximately half of the people, the patellae are completely absent, with various degrees of size reduction reported in the remainder. If present, the patella often slips to the outside when the knee is straightened. Some of the tendons and ligaments in the leg may be missing or attached incorrectly.
WHAT I DID...
Note: The fundraising events mentioned here have mostly already taken place and were HUGE successes. The first prize in the raffle, a new mountain bike, was re-donated by the winner to be raffled again next year! The generosity that this gesture shows is just amazing and very appreciated.
For me, the most difficult part of raising awareness, and gaining public attention, is thinking about it. The same can be said for raising funds.
The first step for me was to sit down and construct a viable plan, not to be too impatient and to set realistic goals. After all, Rome wasn't built in a day and taking small steps first rather than giant strides will likely have a much more positive effect on the final result.
It was always my intention in raising funds to include the coverage of the newspapers. That way we were going to achieve two vital functions of the group in unity.
The NPSW Board of Directors is as follows:
- Director - Joanne Mansour
- Board Member - Julie Anne Pickett
- Board Member - Gary Ross
- Board Member - Barb Clemons
- Board Member - Celeste Chandler