Amy and Tim Trumble, are celebrating every moment they have with their little cowboy, Adam. It was just two years ago they spent hours with doctors, trying to figure out why their baby boy was constantly sick -- struggling with every virus his sisters brought home from school.
Adam’s transplant journey began in February 2007 when Amy took him to the local hospital’s emergency room because the toddler was refusing to eat or drink. Over the next several weeks, Adam became sicker and sicker with very few answers coming from the medical team. According to Amy, he was sent home with medications, and the family was told to wait and to watch. During those days, Adam’s health continued to decline, and he started eating, playing and sleeping less. Adam lost weight and suffered with intermittent vomiting.
Finally, in early June, his parents heard the devastating diagnosis: Adam had restrictive cardiomyopathy and his only chance for survival was a heart transplant. He was placed on the transplant list the next day. Time ran out, and in mid-July Adam’s heart failed. To keep him alive until a heart became available, he was given a Berlin Heart (a device used to temporarily assist the heart) to survive.
During these stressful days, a social worker at the hospital told the Trumbles about the Children’s Organ Transplant Association (COTA). A team of Wisconsin volunteers started working with COTA almost immediately to help alleviate some of the financial burden facing the family. According to Amy, “Our friends researched other fundraising organizations, but ultimately chose COTA because they focus on children and provide detailed help for the volunteers. We believe the success of the COTA fundraising campaign is due to the combination of COTA’s expertise and guidance and our great team of friends.”
Adam received his new heart ... and his second chance at life ... on October 1, 2007. Just 17 days later he was released from the hospital and sent home to Milwaukee.
“We see Adam as our little miracle,” said Amy. “We went from having a healthy one-year-old to watching him deteriorate to the point of complete heart failure in a few months’ time. But Adam fought the entire time. During part of his stay, he was put on an Extracorporeal Membrane Oxygenation (ECMO) machine to keep him alive. While on the machine, Adam would periodically rouse from sedation, smile at us and try to speak ... once he even pointed to the door as if to say, ‘please take me out of here.’”
During these many days of hospitalized care, Adam hit his lifetime insurance maximum -- before he ever received his heart transplant. According to Tim, “COTA reassured us that even if his supplemental coverage would fall through, Adam would still be able to receive his transplant. With COTA’s assistance, we were given the hope of financial security.”
Today, Adam is nearing the 18-month anniversary of his heart transplant at Children’s Hospital of Wisconsin. According to his parents, Adam is doing great. Although he gets sick more often than his sisters, Laura and Emily, he is a little trooper who plays and continues to have fun during his bouts of illness. And most touching, Adam tries to comfort either of his sisters when they are sick. Adam loves playing outside in the snow and going sledding with his family, but he cannot wait for the warm days of spring when the neighborhood will be full of children who, this year, he will be able to keep up with.
“Adam is a bright shining light for many,” said Amy. “Throughout our transplant journey so many people were out there praying for Adam, and for us, and wondering what they could do to help. Many of them channeled their efforts toward COTA, and made donations to COTA to help with transplant-related expenses. We truly have been blessed by all of the people who surrounded us, and who reached out to help us.”
Please visit www.COTAforAdamT.com and leave the Trumbles
your own message
of encouragement, or make a donation to help with ongoing
transplant-related expenses.
Gene Mutation Increases Drug Toxicity,
Rejection Risk
in Pediatric Kidney Transplants
Screening for mutations in a gene that helps the body metabolize a kidney transplant anti-rejection drug may predict which children are at higher risk for side effects, including compromised white blood cell count or organ rejection, according to a new research study. Published online February 18th by the Nature journal Clinical Pharmacology and Therapeutics, the study suggests this genetic approach could also help physicians tailor personalized anti-rejection drug doses to prevent adverse reactions, said senior investigators Alexander A. Vinks, PharmD, PhD, and Jens Goebel, MD, of Cincinnati Children's Hospital Medical Center.
"There are better ways than just giving standard doses of these drugs, and in due course these types of technologies will be available worldwide to help patients," said Dr. Vinks, Director of the Division of Clinical Pharmacology and the Pediatric Pharmacology Research Unit at Cincinnati Children's Hospital Medical Center. "This pilot study shows personalized and prospective MMF dosing and monitoring may be feasible to reduce the high incidence of drug toxicity in children without compromising the drug's protective effects against kidney graft rejection."
MMF, or Mycophenolate Mofetil, is an immunosuppressive agent commonly used to prevent rejection in organ transplants, particularly in kidney transplants. After taken orally, the drug is quickly processed by the body into an active form. During this time, patients with a specific point mutation in the gene that helps break down the drug, UGT, metabolize the drug slower. This point mutation, called UGT1A9-331, causes overexposure and adverse side effects in the affected children, the study concluded. UGT encodes the drug's main metabolizing enzyme in the body, uridine diphosphate-glucuronosyl transferase.
Adverse side effects most commonly linked to MMF have included gastrointestinal complications (such as diarrhea) or leucopenia, which is a drop in white blood cell count that can put patients at higher risk for infections. In some instances, patients have to be taken off the drug or have their dosage reduced to the point where they risk rejection of the
new organ.
The current study analyzed 38 children who had received kidney transplants. Sixteen of the children experienced adverse side effects from MMF therapy. In the adverse reaction group, nine children with the specific UGT point mutation developed leucopenia. The researchers found no strong association between UGT gene variants and diarrhea -- the most common side effect linked to MMF -- suggesting gastrointestinal reactions to the drug may be caused by other factors.
Some previous studies have linked UGT gene mutations and MMF-related side effects in kidney transplant recipients, while others have suggested a greater risk for adverse events in children. A review of earlier research combined with their current data led researchers in this study to conclude that pediatric kidney transplant recipients on MMF therapy have a significantly higher likelihood of drug-related complications than adult patients.
The research team recently completed pharmacokinetic and biomarker studies, which analyze how the body metabolizes a drug, to solidify the connection between different variants of UGT and MMF overexposure in pediatric kidney transplant patients. Researchers want to use data from these pharmacokinetic studies as a basis for showing whether increased MMF exposure in adults can also be linked to specific variations in the UGT gene.
The pilot study is part of the growing field of genetic-based pharmacology, or pharmacogenetics. Combining biology and information technology, researchers are developing computer-based algorithms that allow taking a few drops of blood and analyzing how quickly a person's body will break down and absorb a drug based on their genetic makeup. The goal is to reduce drug-related side affects by optimizing drug doses for individual patients.
Source – Cincinnati Children's Hospital Medical Center
In a period of just 13 months, the National Marrow Donor Program (NMDP) facilitated more than 5,000 unrelated bone marrow and cord blood transplants, representing a nearly 18% increase over 2007.
"We could not have reached this important achievement without the dedication and commitment of our partners, from donor centers and transplant facilities to U.S. federal agencies and international registries. Their support has clearly helped us serve more patients," said Dr. Jeffrey W. Chell, NMDP Chief Executive Officer. "We look forward to our
continued collaboration in working to ensure that all patients have access to this
life-saving treatment."
The tremendous increase in patients receiving transplants stems from advances in transplant therapy including significant improvements in survival rates. Changes in clinical practice, including more precisely matched donors and patients, more potent drugs to combat complications, and more transplant options for patients (bone marrow, umbilical cord blood or peripheral blood stem cells) have made it possible for increasingly more patients to receive transplants.
Additionally, international partnerships and the growth and diversity of the NMDP Registry have helped more patients find matches. Every search conducted through the NMDP now provides access to more than 13 million donors, and more than 400,000 cord blood units on global registries. In 2008, approximately 51% of the transplants facilitated by the NMDP involved either an international donor or patient.
"Facilitating 5,000 transplants in such a short period of time was accomplished with a tremendous amount of global cooperation. Our international partnerships are providing better access to care for all," added Dr. Chell.
Continued advances in transplant medicine and increases in the number of volunteer adult donors and publicly donated cord blood units on global registries, particularly from racially and ethnically diverse communities, will continue to improve transplant outcomes and ensure all patients receive the transplant they need.
COTA Website Offers Tools for Professionals and Families
COTA took special care to design an area of www.cota.org specifically for transplant professionals and for transplant families who were not yet working with COTA. One of the most exciting tools in this area is the Transplant Expense Estimator. This is a tool for transplant professionals and transplant families to calculate possible transplant-related expenses based on the family’s specific situation. You can use this tool to estimate transplant-related expenses for your families, and to help families recognize what their out-of-pocket portion of transplant expenses might be. This interactive tool can calculate a family’s estimated out-of-pocket, transplant-related expenses based on their medical coverage, distance from the transplant center and transplant type. This new online tool is available to any transplant family simply by clicking on ‘Transplant Families’ and then on ‘Transplant Expense Estimator’.
Please email
if you have any problems navigating COTA’s
new website.
The Children's Organ Transplant Association (COTA) provides: Funds Available for Transplant-Related Expenses
Funds raised through the Children’s Organ Transplant Association in honor of patients are available for ongoing transplant-related expenses that include transportation, lodging, and food for follow-up transplant center visits; medications; co-pays and deductibles; and medical care. Changing insurance plans, inflated premiums and deductibles, and benefit caps are long-term issues for most transplant patients. COTA funds are also available for post-transplant care.
Screening for mutations in a gene that helps the body metabolize a kidney transplant anti-rejection drug may predict which children are at higher risk for side effects, including compromised white blood cell count or organ rejection, according to a new research study. Published online February 18th by the Nature journal Clinical Pharmacology and Therapeutics, the study suggests this genetic approach could also help physicians tailor personalized anti-rejection drug doses to prevent adverse reactions, said senior investigators Alexander A. Vinks, PharmD, PhD, and Jens Goebel, MD, of Cincinnati Children's Hospital Medical Center. 
In a period of just 13 months, the National Marrow Donor Program (NMDP) facilitated more than 5,000 unrelated bone marrow and cord blood transplants, representing a nearly 18% increase over 2007. 
COTA took special care to design an area of www.cota.org specifically for transplant professionals and for transplant families who were not yet working with COTA. One of the most exciting tools in this area is the
