Posts by Carolyn Hoffman
Wave of Hope Fundraiser
Amber and Haley, are two young, inspiring women who have an extremely rare metabolic disease called Succinic Semialdehyde Dehydrogenase Deficiency (SSADH); there are only 400 cases of SSADH worldwide. Amber…
Read MoreVoice of the Patient Report Submitted to FDA
We are happy that after hosting the Externally Led Patient-Focused Drug Development (EL-PFDD) meeting, in July of 2022, the Voice of the Patient report has been submitted to the FDA’s…
Read MoreConquering a rare metabolic condition: A family, a pediatrician, and two labs join forces
Boston Children’s Hospital and Dr. Phil Pearl, have long been at the center or our mission to find a treatment for SSADH Deficiency. Pearl teamed up with Mike Gibson, PhD.…
Read MoreLong-Term Funding Agreement for Maintaining Biorepository
In January of 2023, Brad and Carolyn Hoffman we were invited to sit in on a weekly neuroscience lab meeting with Alex Rotenberg’s MD, PhD and the team from Boston…
Read MoreMouse Model Funding Grant Awarded
The SSADH Association has granted the funding request from Dr. Henry Lee and Dr. Alex Rotenberg of Boston Children’s Hospital (BCH) / Harvard Medical School seeking nine month interim funding…
Read MoreMGH update from Dr. Pearl and Carolyn Hoffman
On February 16, 2023, Dr. Phillip Pearl and Carolyn Hoffman spoke to a group of genetic counselors at Massachusetts General Hospital (MGH) regarding SSADH Deficiency. They were invited to speak…
Read MoreCelebrating Dr. Mike Gibson’s Retirement
On December 9th we joined a handful of friends to celebrate Dr. Mike Gibson’s retirement dinner in Spokane, Washington. Dr. Gibson has been our beacon of hope for more than…
Read MoreDr. Lee Presents at 2022 AES Annual Meeting
Henry H. C. Lee, PhD, had the opportunity to present his very important work on SSADH Deficiency at the 2022 AES (American Epilepsy Society) Annual Meeting, December 2-6, 2022 in…
Read MoreFund Raiser for SSADH Deficiency
Wave of Hope Benefit Fund Raiser for SSADH Deficiency in honor of Amber and Haley Le Vine, two young women diagnosed with SSADH (Succinic Semialdehyde Dehydrogenase Deficiency). It took seven…
Read MoreSSADH EL-PFDD Meeting Proceedings
Over a hundred patients, caregivers and doctors gathered from across the US, and from as far away as Asia, Europe and Greece to participate in the Externally Led – Patient…
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