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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 28 weeks pregnant I was put on bed rest. By 30 weeks I was hospitalized with a full medical team ready to induce a medical coma to deliver our daughter safely. By 32 weeks our daughter was born: feisty, tiny, with the face of an angel and temperament of a prize fighter. She was 3 lbs, 1 oz – quite small for her gestational age but breathing on her own. 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 (ESES) that effects only .2% of the epileptic population. All the while, our full medical team in New York City were convinced that she had an undiagnosed genetic condition.
While all of the above was part of our daughter’s life, almost 22 months after having her, our middle child was born without complications or issues. When our oldest was 3 years, 7 months old (almost to the day) we gave birth to our third child, another boy. While his pregnancy was easier than his sister’s, there were markers similar to hers that were caught in the first trimester. Unlike his sister, the youngest was born full term. However, 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 the medical community 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.
The amount of personal upheaval shared between these 2 children has been tremendous on our family. Our son has undergone 5 surgeries for breathing issues and a few hospitalizations for seizures. Our daughter has been hospitalized on numerous occasions for seizures, diagnostic testing and drug therapies / trials. The children were medical anomalies for a host of doctors who are internationally recognized. We took solace in phrases such as: “we don’t know or understand yet, but we are working on it.”
In the late spring of 2016, after eight drug trials for our daughter, who was 8 at the time and 47 lbs (and drugs for epilepsy are not run of the mill or without dangers or side effects on to themselves), 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. In fact, a new chapter has just begun and it is a story without an ending. We are actively working closely with our medical team to be educated about DHPS, research more on the DHPS gene to fully understand it’s functioning and to then work towards treatment, and hopefully a cure.
We hope you will join us on our journey!