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.
TESS Research Foundation has created a SLC13A5 Deficiency patient registry. This registry is an important tool to help researchers gain a better understanding of SLC13A5 Deficiency and enables the development of more effective treatment options. If you or your child (living or deceased) has been diagnosed with SLC13A5 Deficiency, your participation helps us better understand the disorder, develop treatments, and organize clinical trials. If you have any questions, please contact Kim Nye at (650) 521-2279 or at email@example.com.
If you are interested in participating in the registry, please click on the button below.
IMPORTANT: If you have more than one child with this disorder, please fill out a new questionnaire for each affected child. To do so, please return to this page after submitting the questionnaire for your first child and re-click the registry button. A new, blank questionnaire should open, which you can fill out for your second child.
This study is for children of all ages with epilepsy due to a genetic mutation. There is a 2-part questionnaire that asks about your child’s seizures, seizure medications, development, and behavior. Behavior questions include social, motor, daily living, and communication abilities. The questionnaires will be repeated after 6 months to track progress.
The goal is to see if this questionnaire will be a useful tool to track response in a future clinical trial.
We may call you to clarify responses from the questionnaire. There is no monetary compensation.
If your child has epilepsy and testing has confirmed a genetic mutation as the cause, please consider joining the study.
Researchers have found that some children with SLC13A5 Deficiency have increased levels of citrate in their blood and Cerebrospinal Fluid (CSF). To establish the level of citrate as a diagnostic biomarker for SLC13A5 Deficiency, they need to study citrate levels in more children with this disorder and their heterozygous carrier parents. You can give your valuable contribution to this study, which might make the diagnosis for SLC13A5 Deficiency cheaper and faster and also open new avenues for treatment. To participate, please take the citrate test form to your doctor and get the citrate levels tested for your children and yourself.
A bio-bank or a repository is a bank that collects and stores biological samples like blood, tissues (skin biopsies), cells (IPSCs) or DNA from patients and their families and distributes them to scientists for use in research. Bio-banks are especially beneficial for rare disease communities like ours as it provides a central resource of patient samples accessible to all the researchers who are interested in studying our disease and brings our children closer to the possibility of a cure. You can participate in this bio-bank by donating your child’s and your samples like blood or skin biopsies and give your valuable contribution in understanding SLC13A5 Deficiency and finding treatment options for our children suffering with this disease.
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 firstname.lastname@example.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.
Ways to Connect With our SLC13A5 Community
- Our team is here to help. Contact Kim by phone (650-521-2279) or by email.
- Join our family directory, which is available in many languages: English, Francais, Nederlands, & Deutsche.
- 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.
- Follow our public Facebook page and our Instagram for updates.
- Tell your story on our Family Stories Page.
Caregiver Stress (Webinar Series)
Parents of children with chronic illnesses or disabilities are at a higher risk of parenting stress. Caregiving can put a physical and emotional strain on parents, and can even stress neurotypical siblings and extended relations. Taking care of a child with a drug-resistant epilepsy, such as SLC13A5 Deficiency, is a high risk factor for parenting stress.
We are proud to have joined with several other rare epilepsy organizations (including The Brain Recovery Project, Hope for Hypothalmic Hamartomas, Ring14USA, Phelan-McDermid Syndrome Foundation, Dup15qAlliance, and LGS Foundation) to present a three part series on the toll of caregiver trauma, as it is experienced by the parents of children with medical issues, with advice on how to manage that trauma.
While the webinars are not substitutes for professional counseling, we hope that watching them will lead to more discussions about caregiver stress.
About the speaker
Eileen Devine, LCSW, has over a dozen years of clinical experience and is the adoptive mother of a child with fetal alcohol syndrome. She believes that kids do well if they can and that when we understand the way a child’s brain works, we then understand the meaning behind challenging behaviors. Eileen’s goal is to support parents in feeling more competent and confident in connecting with their child by parenting from a brain-based perspective. When this shift happens, both parent and child experience less frustration and more success in their relationship.
Read Eileen’s blog about parenting children with neurological challenges here.