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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@tessfoundation.org.

Other symptoms include:

  • Seizures beginning within first few days of birth
  • Persistent seizures of multiple types
  • Severe expressive language delay, with better receptive language
  • Low muscle tone (hypotonia) and a lack of muscle control or coordination of voluntary movements, such as walking or picking up an object (ataxia)
  • Episodes of body stiffening or weakness lasting a few minutes to a few hours
  • Poor development of teeth (hypodontia) or weakness of teeth enamel
  • Brain MRI that appears normal or has subtle changes in the white matter
  • Mildly elevated Citrate levels in blood

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. Please speak with a neurologist about treatment options for your child. We have found that several 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.  We want to hear your stories in the hope that by sharing information, we can more quickly advance treatment and cure.

Five Ways to Connect With our SLC13A5 Community

  1. Our team is here to help. Contact Kim by phone (650-521-2279) or by email.
  2. Join our family directory, which is available in many languages:
    English
    Francais
    Nederlands
    Deutsche
  3. Share information with other families by joining our private Facebook group. Please note that any medical information shared with this group is not protected by HIPAA or any other medical privacy laws.
  4. Follow our public Facebook page for updates.
  5. Tell your story on our Family Stories Page.