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A Family Resource

As the parents of two children impacted by Citrate Transporter Disorder SLC13A5, Kim and Zach Nye have a tremendous respect for all who are affected by this disease. This is why TESS Research Foundation was established—to help. We have formed this Foundation to share information, progress diagnosis, and find treatments and a cure for this disease whose symptoms are well known to us, but whose effective treatment and cure are still elusive. We encourage you to share your stories with us so we can share them with the research community and to those in search of answers. We are all stronger together than we can ever be alone.

Diagnosis

How do we know if our baby is affected by this disorder?

In order to determine if SLC13A5 is the cause of your child’s seizures, a blood test can be performed.  While the number known diagnosed cases are growing, we believe there are still many people who are subject to the disorder but have not received a formal diagnosis. The first and most pervasive symptom, seizures, happens within the first day(s) of life.

While the disease is becoming known to a greater number of researchers, it still is relatively unknown to the caregiving medical community.  If your child experiences seizures at birth that your medical care team cannot determine the cause of, you should ask to be screened for SLC13A5. For assistance with diagnosis, contact us at (KIM).

Other symptoms include:

      • Persistent seizures of multiple types
      • Hypotonia and ataxia
      • Episodes of body stiffening or weakness lasting a few minutes to a few hours
      • Brain MRI that appears normal
      • Severe expressive language delay, with better receptive language

What do we do if we receive a positive diagnosis for SLC13A5?

At this time, there are no specific treatments that cure the disease.  Treating seizures in children with Citrate Transporter Disorder has proven difficult in some patients. We want to hear your stories in the hope that by sharing information, we can more quickly advance treatment and cure.

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We have found that two patients have done slightly better with Acetazolamide but would like to hear if anyone else has had any improvement with Acetazolamide or if any other treatments have been helpful. Please speak with a neurologist about treatment options for your child and we encourage you to share information with other families and researchers via our Facebook page or on our Family Stories Page.  Please note that any medical information shared with this group is not protected by HIPAA or any other medical privacy laws.

To learn more, please read the below case studies from families affected by the disorder. If you would like to share your own story, please click here.