SSADH Association Working for Donations & Sponsorship
About Amber and Haley Le Vine
Amber and Haley Le Vine are two young women diagnosed with SSADH (Succinic Semialdehyde Dehydrogenase Deficiency). It took seven years and five major hospitals and a final visit to Johns Hopkins in Baltimore, MD, in 1996 to identify that they had this rare disorder.
At that time they identified as the second and third known patients in the United States. Since, then, a total of almost 500 SSADH people worldwide have been recognized. Because it is so rare it has been very hard to bring people’s attention to it, making it challenging to get fundraising and pharmaceutical company support but individual SSADH families are working hard to fight against it and are raising money on their own.
They are two lively, bright, energetic, inspiring young women, now 32 and 34, who struggle with speech gross motor, and severe memory problems. Every day of their lives they have to deal with these very real limitations. As their family, we desperately want to find answers and ways to enable Amber and Haley to have lives similar to what the rest of us enjoy and take for granted.
Past and Present Research Efforts
Through the research and medical efforts of Dr. Geoff Chimsky, Dr. Phillip Pearl, Dr. Michael Gibson, and others we got some answers and have been given some hope. Early on a group of families formed the PND (Pediatric Neurotransmitter Disease) Association that was vital in assisting these efforts through conferences and grants, helping to spearhead efforts to combat this disease.
SSADH families have their own exclusive organization, the SSADH Association , which makes it even easier to channel our efforts and funds to also identify and bring SSADH families together. Through this organization we have made some strides against the effects of SSADH.
Early efforts in the form of a clinical trial of SGS 742, based within the NIH (National Institute of Health) involved extensive testing, over the course of ten years but resulted in mixed results.However, new, promising efforts are underway right now here in the United States at Boston Children’s Hospital, Washington State University , The Mayo Clinic, Baylor College of Medicine, Harvard Medical School, The Jackson Laboratory and overseas at Justus-Liebig Unersitat Gieben, Germany and the University of Copenhagen, Denmark.
These include:
- Newborn Screening Methods to Detect SSADH
- Project to Identify the Prevalence of SSADH
- Enzyme Replacement Therapy Studies
- Natural History Study of SSADH Patients
- Biorepository of SSADH Patient Specimens for worldwide research
- Pharmacological Chaperone Therapy (Customized Therapy)
In fact, a breakthrough with Enzyme Replacement Therapy is eminent and may actually result in clinical trials within the year! This would be an amazing step towards a real cure.
It is through your contributions that we can raise money to support and maintain these efforts to give “a wave of hope” for a better life for all who suffer from SSADH. WE CAN reach those goals and make a difference.
Amber, Haley, and our family would appreciate anything you can do to help us.
With love and appreciation,
The Le Vine family: Jesse, Karen, Jacqui, Alison, Amber and Haley
CLICK HERE to listen to the 90.5 RADIO interview with Jess Le Vine and Pat Roddy 10/16/2024
https://www.wbjb.org/show/