NEWS

Wisconsin mother creates SSADH Association after her son is diagnosed with neuro disorder.

Spectrum News Wisconsin | BY Abbey Taylor  | PUBLISHED 12:59 PM ET Feb. 26, 2025

OCONOMOWOC, Wis. — A mother of three, Carolyn Hoffman said her 30-year-old middle child, Sam, was an easy baby to raise. “Sam was the perfect baby,” said Hoffman. “He didn’t cry. He didn’t make a sound.”  When it came to hitting certain milestones, she said her son was behind. At 18 months old, he underwent screening for different neurological disorders. 

“This one level that should have been between zero and two, Sam’s was 810,” said Hoffman.  After health experts across the country reviewed his case, a doctor at Baylor University diagnosed him with a rare disorder called Succinic Semialdehyde
Dehydrogenase Deficiency, or SSADH.

SSADH is an ultra-rare neurometabolic disorder characterized by a lack of one of two enzymes involved in the breakdown of GABA, the major inhibitory neurotransmitter in the brain.  “The doctor said, ‘Well, you should get together with other rare diseases family members and start raising money and fund research,’” said Hoffman.  It was a big task, but that’s what she did, along with other parents. The SSADH Association was created to raise money, fund research and bring awareness to the rare disease. 

“We have paid to have a mice model created so they can do research on the mice,” said Hoffman. “We paid to have a biobank so doctors can use patient samples to do research. We had human iPSC derived neurons lines created so doctors con do research on an in vitro level. We paid for research to isolate the gene that causes SSADH. We have a patient and doctor registry. We applied and received our own ICD-10 code, so doctor visits of patients with SSADH can be tracked, etc. ”

Hoffman was also contacted by Rogers Behavioral Health. They wanted to know if the patients within the SSADH Community had any symptoms of mental health disorders like depression, anxiety or OCD.   “Sam has struggled with OCD his entire life but as the symptoms  first manifested, I wasn’t sure why he had to have to have all of the doors closed and the lights on in each room?  Along with a hundred other things that would keep him from what he’s was supposed to be doing,” she said.

Dr. Sheldon Garrison is a researcher at Rogers. He said a medical study shows that 2% of mental disorders have an underlying rare condition that could be driving those symptoms. 

That’s why Rogers is studying how mental health intersects with genetics and rare diseases. “There’s a lot on the research side,” said Garrison. “Our responsibility is to bring new treatments or medical devices or different types of diagnostic tests. We need to bring them forward, so that we can shorten this diagnostic delay that we see from over nine years to the weeks or months that it should be.”

Garrison said their mission is to develop the next generation of testing that providers can use for medical decisions.

“What they’re doing at Rogers is groundbreaking,” said Hoffman. “It’s remarkable that they care not just about their treatment, but also they go the next step to get the patient diagnosed correctly. The diagnostic odyssey is brutal.”  We actually have had patients that are in their twenties before they ever get an accurate diagnosis. We are grateful to Rogers Behavior Health for pushing for reform with the current newborn screening process.

Click here is see the interview.

Below is a link to the publication regarding the work that Rogers Behavioral Health is doing to better diagnosis and treat their patients when they present with previously untreatable mental health conditions. The article, When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population, published in the American Journal of Medical Genetics.

Click here to read the article.