Frustrated with the slow pace of implementation of newborn screening for Severe Combined Immune Deficiency (SCID), Vicki and Fred Modell decided to coordinate and fund the effort themselves. They have announced a multi-million dollar commitment to screen every baby born in every state for this life threatening condition, often referred to as “bubble boy disease.”

The Modells established the Jeffrey Modell Foundation (JMF) 25 years ago in memory of their son Jeffrey, who lost his battle with Primary Immunodeficiency (PI) at the age of 15. There are more than 150 genetic defects that are classified under the umbrella of PI. The NIH estimates that at least 500,000 Americans are affected and most are undiagnosed. SCID is the most serious of the disorders and is characterized by experts as a “Pediatric Emergency.”

Babies born with SCID fail to develop a functional immune system. They appear normal and healthy at birth, causing delayed diagnosis until they are repeatedly hospitalized for life threatening infections. Undetected and untreated, SCID leads to death before the baby’s first birthday.

But with Newborn Screening, they can now be diagnosed and then cured with a bone marrow transplant. The cost of the screening test, called TRECs, is $4 per baby. To date, the Jeffrey Modell Foundation has contributed over$3 million towards programs of Newborn Screening.

Affected babies with SCID are already being identified, transplanted, and cured in several states, including California, New York, Wisconsin, Massachusetts, and Louisiana. Overall, only 50 percent of all babies born in the United States live in states that screen for SCID or have stated their intention to screen if funding is available.

Mike and Missy Bornheimer were lucky enough to have lived in Wisconsin (the first state to screen). Her baby, Dawson, was born with SCID and was screened, diagnosed, treated, and cured and now is a healthy three and half year-old boy. Missy offered Testimony to the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children in Washington, D.C. on January 21, 2010.

The Committee voted the same day to recommend adding the SCID test to the core panel of newborn screening tests. Health and Human Services Secretary Kathleen Sebelius approved the recommendation shortly thereafter. ”Two years later, we are just approaching halfway to completing our mission so that every baby in every state can be screened for this fatal disease and those afflicted can be cured,” according to Fred Modell. “We have not raised all of the funds as yet, but we are confident.”

Vicki Modell added, “We have heard from too many grieving parents whose babies were tragically lost to SCID. But now that we can screen and cure babies that are affected, we just can’t stand by for another day, and watch precious babies die. We will be offering funding to every state that implements a Population Screening Program for SCID. This is an historic journey and we hope to wipe out this fatal disease forever.”

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When 27-year-old Nina Sanchez was 13 weeks pregnant, doctors gave her the devastating news that she had kidney failure. At a time when most mothers are eagerly awaiting the journey of pregnancy, Sanchez was grappling with a distressing diagnosis. Her new priority was now, not only her own health, but keeping her baby alive and healthy.

During her seventh month of pregnancy, she went on dialysis. Shortly thereafter, she delivered a healthy baby girl, thankfully, although six weeks early.

Now that her daughter had safely arrived, it opened the realm of therapeutic options for Sanchez. Her team of transplant specialists at Northwestern Medicine determined she would need a kidney transplant or face dialysis for the rest of her life. The search for a living-donor match began.

Sanchez’s brother, Sam Vega, was tested and found to be an incompatible donor.  Just when it seemed she would never get the transplant she so desperately needed, Sanchez received a call from Northwestern’s transplant program with news that a match had been identified through what is known as a paired exchange transplant, which matches one incompatible donor-recipient pair to another, enabling an organ exchange.

“When my doctor told me he found a kidney for me, I was so relieved,” said Sanchez. “I was scared that I wasn’t going to be around to raise my daughter.”

“Patients are often able to find a willing donor,” explained Juan Carlos Caicedo, MD, director of the Hispanic transplant program at Northwestern Memorial Hospital and assistant professor of surgery in the Division of Organ Transplantation at Northwestern University Feinberg School of Medicine.

“But approximately one-third of the living donors are not a match for the loved ones they wish to donate to. Paired exchanges are becoming more common and give more patients the opportunity to find a compatible donor.” Unbeknownst to them at the time, Sanchez and her brother were matched to a father-daughter twosome.

Like Sanchez, Lino Martinez, a 69-year-old father of seven, suffered from kidney failure. His daughter, Maria Ortega, was his donor, but was not compatible. When doctors suggested they participate in a paired exchange, she said the choice was easy.  “I would do anything for my father,” said Ortega. “It was a small thing I could do to give him a second chance at life.”

And like Ortega, when Vega was offered an opportunity to give his kidney to a complete stranger so his sister could receive a kidney, he said he did not think twice. “I was honored to give life to someone else so my sister could have a chance too.”

Martinez received Vega’s kidney and Ortega donated to Sanchez. Following their much-awaited transplants, the two families say they have forged a bond that will last forever.

With paired exchange transplants, recipients’ and donors’ identities are always concealed leading up to and after the transplants occur. The opportunity to meet is always offered. However, unless all parties agree, identities are never revealed. In the case with the Vega-Sanchez and Martinez-Ortega pairs, all parties wanted to meet and by coincidence, all participants were of Hispanic descent.

Northwestern’s transplant team performed its first paired exchange in 2006. Since then, more than 80 paired exchange transplants have occurred. Caicedo says the fact that Northwestern’s transplant program makes a special emphasis on the Hispanic community is a long-overdue and a unique offering in Chicago’s healthcare landscape.

High incidences of obesity, hepatitis B, and hepatitis C among our nation’s Hispanic populations put these communities at higher risk and greater occurrences of needing transplants. The National Kidney Foundation estimates that among the 90,000 people on the wait list for kidney transplant, approximately 16,000 are Hispanic. Furthermore, data provided by the United Network for Organ Sharing rank Hispanics as the second-highest ethnic representation among individuals awaiting liver transplant.

Northwestern’s transplant program caters to the unique cultural needs of all patients. For Hispanic patients, it features unique offerings including, but not limited to, educational sessions for patients and families that are conducted in Spanish and Spanish-language Web-based information about offerings at the Chicago campus and transplant’s satellite clinics.

“We know as healthcare providers that customized patient care is important for everyone,” said Caicedo. “Cultural differences influence how patients respond to care—it’s just as simple as that. For many Spanish-speaking families, family elders make most important decisions. So we know that by involving the family and by making it easy to communicate and easy for them to get information, we have a much better situation such that we achieve successful experiences for patients and their donors.”

Martinez and Sanchez agreed that after years of being sick and on dialysis, they have a new outlook on life. “It has changed everything for me,” said Sanchez. “I can now live a healthy and fulfilling life and be the mother my daughter deserves.”

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