Giving Babies A Chance to Survive

I got a letter from Natalie Maniscalco who is working at The Jeffrey Modell Foundation. She asked me to post this message about the Foundation and the importance of avoiding diagnostic delay:

Mission

The Jeffrey Modell Foundation (JMF) was established by Vicki and Fred Modell in memory of their son, Jeffrey, who died at the age of 15 of a Primary Immunodeficiency (PI). The Foundation is dedicated to early and precise diagnosis, meaningful treatments and ultimately cures for Primary Immunodeficiencies.

What you need to know:

PI is a genetic defect in a child’s immune system. It’s more common than you think, it’s chronic, and if untreated, it can be deadly.

It affects as many as 1 million children and young adults – more common than childhood leukemia and lymphoma combined.

PI causes the usual childhood illnesses to occur an unusual amount of times.

There are 10 warning signs of the disease, and a simple and inexpensive blood test can identify the disorder in over 95% of the cases.

Once diagnosed, there are several treatment options that can provide a good quality of life and in some cases, even a cure.

To date, there are 35 Jeffrey Modell Research and Diagnostic Centers in the U.S., Canada, Europe, Middle East, and Asia. Recently they established collaboration with the NIH and Affymetrix to develop a Gene Chip using Microarray technology to do Newborn Screening of Severe Combined Immune Deficiency. The Modells have raised over $40 million for research and education since starting the Foundation in 1987.Focus

• To affirm its absolute commitments to clinical and basic research in order to better understand and treat Primary Immunodeficiencies.
• To serve as a national and international source for the dissemination of information and education into the diagnosis and treatment of genetic immunodeficiencies.
• To serve as a tireless, compassionate advocate on behalf of patients and families to assure their access to excellent and comprehensive care.
• To promote public awareness of the Primary Immunodeficiency diseases through programs involving our lawmakers as well as lay, scientific, and medical communities.
• To affirm its commitment to turn pain, despair and suffering of immunodeficient children and adults into comfort and hope.

Further reading:

• 10 Tips: how to search for genetic conditions
• Blogterview with a blogger fighting Pompe disease, a rare genetic condition
• Pompe disease, a rare but important genetic condition