There seems to be no limits when it comes to what a parent will do for their child. And when it came down to it, David and Stacey Ogman knew that they would go to whatever lengths it took to ensure that their children were okay.
You see, their son Jordan was born with an ultra-rare genetic brain disease called TECPR2. My own research has found minimal cases of TECPR2 described in medical literature over the years. So when David and Stacey were faced with this diagnosis and the sheer lack of research, they had two options: accept their fate, or do whatever they could to make a change.
They did the latter: reaching out to researchers, beginning a foundation, and now, ultimately, working towards a cure. Interested in donating to help fund the science and cure for TECPR2? Donate to the Jordan Avi Ogman Foundation to Cure TECPR2..
Recently, I sat down with David Ogman to discuss Jordan’s story, the diagnostic journey, what TECPR2 is, and the importance of science, research, and developing a treatment or cure.
Jordan’s Story
When David and Stacey Ogman were expecting their first child, Kira, they were thrilled to begin their family. The pregnancy itself was relatively easy, and Kira was born without any issues. Her parents, as she’s grown up, describe her as healthy and happy.
The pregnancy for their second child, Jordan, was also relatively easy – some might even say “blissful.” But when Jordan was born on July 20, 2015, he began experiencing some health issues within hours. Nurses noticed that Jordan wasn’t breathing well. His lungs filled with fluid, landing Jordan a 7-night stay in the NICU. However, Jordan was later discharged. David explains:
When the doctors released us, they said that Jordan could have had RSV or some sort of fever. For the next few months, there were really no issues. Then one night we noticed that he was turning blue. We had to call an ambulance in the middle of the night and Jordan was rushed to the ICU. He was kept for observation, but no diagnosis was made.
Jordan came home again and, though he experienced several serious respiratory infections throughout his first year of life, he seemed to be a similarly happy baby who hit all of his milestones. But then his parents noticed a potential problem. As David says:
We realized that Jordan wasn’t progressing at the same rate as Kira did and he wasn’t hitting the same milestones. Jordan wasn’t sitting up or crawling. He didn’t make eye contact and wasn’t making any sounds. As time went on, we realized he was choking on his food and drinks. We began going to the doctors, but were told that it was just a developmental delay. That everyone progresses at their own rate and we needed to give it time.
David and Stacey began undergoing intervention to see how they could best help their son: occupational therapy, developmental and speech therapy, physical therapy. While Jordan was still not hitting his usual milestones, his family said that they celebrated “inch-stones.” Yet his parents still had worries that something was wrong – especially as Jordan’s second birthday passed and third birthday approached.
The Diagnostic Journey
At first, David and Stacey consulted neurologists, pediatricians, developmental pediatricians, endocrinologists, and a variety of other specialists. They had MRIs and EEGs done on Jordan, blood tests and metabolic panels, microarray analyses. Everything came back relatively normal. But the parents were not going to stop there. They pursued a neurogeneticist, who encouraged the family to pursue whole exome sequencing for Jordan. David says:
At the time, whole exome sequencing was incredibly expensive. It cost tens of thousands of dollars and took months to get the results. Fortunately, the system is improving overall so families approaching this now will most likely be covered by health insurance and will have to wait for less time.
After 3-3.5 years of searching for an answer, the Ogman family finally received it when the results of the whole exome sequencing arrived. Doctors asked David and Stacey to meet them at the hospital, where they received their answer: Jordan had a rare, fatal neurodegenerative brain disease called TECPR2. Even more upsetting, the doctors were unable to give the Ogmans much information about TECPR2. David explains:
The neurogeneticist said that Jordan had TECPR2, but there was no research in the system and no other kids that they could find that were still alive. There were no older patients to even try and evaluate the prognosis over time. We learned that TECPR2 has never been on any genetic testing panel at any point, so there are probably tons of children who are misdiagnosed or undiagnosed. So as we were left trying to grapple with this news, we were also faced with a really sobering reality that there was no cure, no treatment, and, at the time, no hope!
Stacey was in tears. The parents asked what they could do for Jordan, what the hospital suggested, and the Neurogeneticist said, “Go home, hug him, and love him.”
David and Stacey returned home and immediately jumped into action. They had to save their son; there was no other choice. The pair began calling hospitals across the world, trying to figure out who understood this disease and who might be able to help. After connecting with Harvard Medical, the Ogman family flew immediately to Boston to confirm the diagnosis. Again, David shares:
We were then told again that no children have lived past the first decade of life, that life expectancy was from two to seven years old. We learned that there were only around five children known to have this disease. And they told us good luck and to prepare to make hard decisions.
What is TECPR2?
Similarly to when Jordan was diagnosed, there is still minimal information and research available on TECPR2. However, we have worked to compile as much information as we can to share on this disease.
As the name suggests, TECPR2 is an ultra-rare genetic disease resulting from TECPR2 gene mutations. MedLine Plus explains that TECPR2:
provides instructions for making a protein that is involved in a cellular process called autophagy [in which cells] recycle worn-out or unnecessary cell parts and break down certain proteins when they are no longer needed. During autophagy, materials that are no longer needed are isolated in compartments called autophagosomes [and] the TECPR2 protein is thought to be important for the formation of autophagosomes.
Therefore, TECPR2 mutations interrupt this process and cause neuronal cell death. A 2022 article in Molecular Therapy Nucleic Acids further describes TECPR2 disease as a:
monogenic neurological disorder characterized by intellectual disability, impaired speech, hypotonia, spasticity and severe motor delay, gastroesophageal reflux, areflexia, central sleep apnea, and premature death. A homozygous pathogenic TECPR2 single-base-pair deletion mutation was originally identified in five patients from three families of Bukharian Jewish origin.
Additional mutations have been identified in patients of Ashkenazi Jewish heritage.
Join us in Part 2 of the interview as we discuss the Jordan Avi Ogman Foundation to Cure TECPR2, the burgeoning research (and need for fundraising), and advice for newly diagnosed families.
