NIH establishes patient registry for people with Down syndrome

A new Down syndrome patient registry will facilitate contacts and information sharing among families, patients, researchers and parent groups. The National Institutes of Health has awarded a contract to PatientCrossroads to operate the registry. The company has created patient-centric registries for muscular dystrophy and many rare disorders.People with Down syndrome or their family members will be able to enter contact information and health history in an online, secure, confidential database. Registry participants will be able to customize their profile, update it online, and choose which information they would like to display, including reminders about their own medical care and general information about Down syndrome. They also will be able to compare their own medical information to that of other registrants in a confidential and anonymous manner. If a participant gives permission to be contacted, clinicians and researchers who are authorized to access the database will be able to contact these individuals to see if they are interested in participating in a research study. Ultimately, the registry will be able to link to biorepositories of tissue samples and other resources, with the goal of making it easier for patients to take part in clinical studies for new medications and other treatments for Down syndrome. The contract, which will support the creation of the registry through September 2013, received $300,000 in funding for its first year. "The new registry provides an important resource to individuals with Down syndrome and their families," said Yvonne T. Maddox, deputy director of the NIH's Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), which is funding the registry. "The registry links those seeking volunteers for their research studies with those who most stand to benefit from the research." Down syndrome most frequently results from an extra copy of chromosome 21 in the body’s cells. Infants with Down syndrome are likely to have certain physical characteristics, such as short stature and distinctive facial features, as well as health conditions like hearing loss, heart malformations, digestive problems, and vision disorders. Although Down syndrome most commonly results in mild to moderate intellectual disability, the condition occasionally involves severe intellectual disability. In addition, some individuals with Down syndrome age prematurely and may experience dementia, memory loss, or impaired judgment similar to that experienced by individuals with Alzheimer disease. "Down syndrome is complex," Dr. Maddox said. "A wide array of scientific expertise is required to address all its aspects in a comprehensive manner." Development of a patient registry was a leading recommendation in the 2007 NIH Down Syndrome Research Plan, which sets goals and objectives for the Down syndrome research field. Together with the Global Down Syndrome Foundation, the NICHD sponsored the Down syndrome National Conference on Patient Registries, Research Databases, and Biobanks to solicit the advice of a number of experts from the advocacy community, federal agencies, industry, and the clinical and research communities on how best to establish a Down syndrome registry. The plan for the registry was supported by the public-private Down Syndrome Consortium, which was established by the NIH in 2011 to foster the exchange of information on Down syndrome research, and to implement and update the Research Plan. Membership on the Consortium includes individuals with Down syndrome and family members, representatives from prominent Down syndrome and pediatric organizations, and members of the NIH Down Syndrome Working group, an internal NIH group that coordinates NIH-supported Down syndrome research. "We're grateful to those who provided us with the advice that allowed us to establish a national registry," Dr. Maddox said. "We are happy that this important step in furthering research on Down syndrome has been accomplished and hope that many families will take advantage of the opportunity to sign up as soon as the registry goes online." About the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): The NICHD sponsors research on development, before and after birth; maternal, child, and family health; reproductive biology and population issues; intellectual and developmental disabilities; and medical rehabilitation. For more information, visit the Institute’s website at http://www.nichd.nih.gov/. About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visitwww.nih.gov.  Source: nih.gov

Your prayers worked a miracle for Christina!

If you don't follow me on Facebook, you should, that's where I do most of my writing lately, because I have been suffering for five years with fear. Fear that Christina who once spoke beautifully and now can hardly speak was going downhill and I couldn't find out why, Specialist after specialist, clinic after clinic, to no avail. I don't want to scare any new moms so I only made vague references to it here. But it ate at my heart, making it difficult to be positive about our lives together. I felt as if I were failing her, even though I never stopped trying new therapies, doctors, techniques. I kept praying for the intercession of Dr Lejeune to find the reason she was not her old self. I believe he has brought me an answer to that prayer, and that of nearly a hundred friends from all over the world who encouraged me on Facebook. I had asked for their prayers for her PPT meeting (Pupil Planning Team this is a meeting of all her teachers to decide what her Individual Education Plan will be).
Today in her PPT meeting the Special Ed Administrator was helping me plan for a future in which she will use an Ipad to speak. That she will have very limited functioning as an adult, that our hopes for her to speak as she once did were at an end. As you can imagine I left that meeting numb and dispirited.
BUT THAT IS NOT THE END OF THE STORY!
Now I have a resurgence of hope. Later today, Christina was evaluated at Crossroads Physical Therapy in Columbia, CT. and the therapist offered not only a diagnosis, but a possible cure. I was in tears when he told me her left eye is higher than her right (never noticed it, being too close for objectivity I suppose) and that this is causing her stress. All the problems are from this. AND there is hope it can be healed.
I can't go into details because I would state it incorrectly, however, ALL the behavioral symptoms which have troubled me, her increasing lack of cooperation and isolation, repetitive gestures, negative reaction to crowded rooms (she prefers to watch her favorite films alone with her doll when we have lots of noisy guests). These symptoms are a result of the extra stress on her system from the eye. The speech center of the brain is located just behind that eye, and when Christina was five, she nearly died from double pneumonia, causing a chain reaction of stress, robbing her of her ability to speak, to interact with others, and isolating her in her own little world. It is very hard to draw her out. I knew that she was being hampered, I didn't know what was causing it, now its all clear, and I am dancing with joy and praising God with all my heart. But the therapist explained in great detail why this is a problem which had a solution and he was most optimistic that together we can help my beautiful daughter speak again.

Servant of God, Dr Jerome Lejeune

Now I understand it was because her overwrought senses are bombarding her and she is seeking peace. She is not able to speak and is withdrawing, but no longer. She was very happy to cooperate with the therapist today, and I think she feels better when he works with her. Stay tuned because I want to document this miracle of a diagnosis. I want to document her progress, or people will say it never happened, that this is wishful thinking, that I am delusional.
This is a miracle thanks to the intercession of Servant of God Dr Jerome Lejeune for whose intercession I have been begging, and a result of the prayers of nearly 100 of my dear Facebook friends!
Thank you from the bottom of this mother's grateful heart!!
Exaude Domine!