Wave of Hope ~ SSADH
Thanks for visiting our website. The Wave of Hope foundation was started in 2011 by the Le Vine Family to support awareness and funds for research towards SSADH; a rare metabolic disorder. Follow us @waveofhopessadh and visit us on facebook at "Wave of Hope - SSADH". Check out the Donations and Sponsorship in menu bar to the left to find out how YOU CAN make a difference.
  

About SSADH

SSADH deficiency is inherited as an autosomal recessive trait. Thus, two parents whom are carriers have a 25% chance of producing children with this disease.

In our case, two of our four daughters developed it.

SSADH is a Neurotransmitter Disease. Neurotransmitters are chemcals released during a nerve impulse to either excite or inhibit nerve function.  There are many neurotransmitters in the body all of which work together to regulate motor coordination, behavior, temperature, pain mechanisms and blood flow. Errors in metabolism affect the central nervous system.

Succinic semialdehyde dehydrogenase deficiency (SSADH) is a rare metabolic disorder characterized by lack of the enzyme involved in the degradation of GABA, the major inhibitory neurotransmitter in the brain. GABA controls the movements of humans, and when it is imabalanced, major neurologic abnormalities occur. In SSADH deficiency, neuro-transmitters are block from signaling one another correctly.

Due to the enzyme deficiency, an unusual compound acclumulates in the body called GHB, which interferes with the patient's ability to walk, speak, concentrate and process information in the brain.

Symptoms include:

  • Common Manifestations
  • Delayed gross motor development
  • Delayed mental development
  • Delayed fine motor skill development
  • Delayed speech and language development
  • Hypotonia

Frequent Manifestations:

  • Seizures
  • Hyporeflexia
  • Ataxia
  • Behavorial problems
  • Hyperkinesis

Treatments have included Lamotrigine, NCS- 382, and currently two drugs, Vigabitrin and Taurine. Presently there is clinical trial in process through the National Institute of Health and a grant obtained through the efforts of the PND Assocation and Dr.s Gibson, Pearl, and Theodore involving a drug known as SGS 742 which seems to hold great promise for SSADH patients. Amber and Haley were benchmarked with tests for this about five years ago. Since then, they have been to the National Institute of Health three times for testing in preparation for an impending clinical trial of this due to a grant and massive fundraising.

Further Information

Visit the SSADH Association website at  www.ssadh.net/ 

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