In April 2007, my husband and I found out we were expecting our first child. We were ecstatic. However, within the first trimester, testing found something was not right. By 32 weeks our daughter was born: feisty, tiny, with the face of an angel and the temperament of a prize fighter. Almost immediately she was identified for needing additional support, and thus began our road of therapeutic interventions. By the age of 2 she had a host of neurological diagnoses, and by the age of 3 she was diagnosed with a very rare form of epilepsy called ESES, that effects only .2% of the epileptic population.

When our oldest was 3 years old, we gave birth to our third child, a boy. While his pregnancy was easier than his sister’s, there were markers similar to hers that were caught in the first trimester. By six months of age, he was in and out of the hospital for breathing issues, and over the course of time, his development was delayed enough that we reached out to the medical team working with our daughter. On Christmas Eve 2013, at the age of 2 ½ years, the phone call came in that he also had epilepsy, and by that point there was little doubt that the two children shared a common genetic disorder – although no one knew what it was. 

In the late spring of 2016, after eight drug trials for our daughter, who was 8 at the time, we were running out of medical options. Extensive genetic testing by almost every major US institution had proved fruitless: researchers were convinced the answer was there, but they couldn’t find it.  Our epileptologist, Dr. Orrin Devinsky let us know he was working on a new project. It was radical: draw a small amount of blood from a patient, spin it down to its stem cell level, put the stem cells into a petri dish, let it freeze for a few months and after a bit the stem cells start to colonize and form micro versions of the patient’s brain. Cerebral organoids allow researchers a roundabout way to understand the nature of the patient’s disorders by looking at neurological functioning. Additionally, functional testing on the organoid allows researchers to test drugs and therapeutic interventions on the organoid instead of the patient, which for us as parents was significant. 

During our daughter’s cerebral organoid colonization process, we decided to try to rerun the genetic analysis with the genetics team at Columbia University Medical Center, led by Dr. Wendy Chung. In August of 2017, the Columbia team identified the DHPS gene mutations, which up until this point no confirmed causes of genetic issues or human cases had been reported. 

The story does not end here. We are actively working with our medical team to be educated about DHPS, to understand its functioning, and to then work towards treatment, and hopefully a cure. 

We hope you will join us on our journey!

Our Mission

Identify, Assist, Treat

Our mission is to help identify and assist individuals with rare genetic disorders, and to work with interested researchers to develop treatment options and cures for those disorders. Our initial focus is on increasing awareness and understanding of patients with DHPS deficiencies and evaluating potential treatments to address those deficiencies.

Learn more at www.DHPSFoundation.org

Genetics Known To Date

Our Resources

Contact:

Genetics Team (Columbia University Medical Center)

Wendy Chung, MD PhD
Kennedy Family Professor of Pediatrics and Medicine
1150 St. Nicholas Avenue Room 620
New York, NY 10032
Phone: (212) 851-5313
Fax: (212) 851-5306
E-Mail: wkc15@cumc.columbia.edu

Neurology Team (New York University Medical Center)

Dr. Orrin Devinsky
223 East 34th Street
New York, NY 10016
Phone: (646) 558-0803
E-Mail: Od4@nyu.edu

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