Support rare childhood disease research
By Caroline Loewy
When our son, James, was born in March 2005, it was the happiest day of our lives. Everything had been going according to plan. The pregnancy was easy, and James arrived just before his due date. The first night, the three of us settled in as a new family, excited to share that surreal blissful first night together.
But that all changed quickly. The next morning, the nurse who came in to check on James noticed some jerking movements that did not seem normal. We were informed that he was having seizures.
Our joy as new parents was overcome by panic. James was taken away for CT scans and a battery of tests.
We were told they did not know which of the numerous diseases that cause infantile seizures it could be, since James showed no obvious signs of anything and nothing runs in our families.
Over the next 10 days, James was in the ICU as doctors tried to get his seizures under control. He underwent a battery of additional tests, but nobody could tell us what was wrong with our baby.
With his seizures eventually controlled by a combination of several medications, we were sent home with the conclusion that everything seemed fine and James would likely just outgrow his seizures.
A month later, the seizures were back, and we were back in the hospital. Still, nobody could tell us what was wrong with our son. But over the coming months, it became obvious there was something more than just seizures going on. James did not sit, crawl, or babble on schedule.
We began on a diagnostic journey that in all spanned nearly nine years, trying to find a diagnosis for James’ seizures and significant developmental disabilities. We were looking for a needle in a haystack, and in 2005, the scientific knowledge was not yet to a level to figure it out.
Finally, in late 2013, we found the Translational Genomics Research Institute (TGen) Center for Rare Childhood Disorders and we received the answers we had sought.
James is affected by a rare genetic condition, the de novo KCNQ2 mutation. We finally had the answers we had been looking for and were finally able to get to work.
As someone who works in the biopharmaceutical industry, I have dedicated my professional life to promoting the value of scientific innovation and research.
Now, as the mother of a child with a rare disease, I have developed a deeper, personal understanding of just how important innovation can be and the comfort that knowledge can provide to patients and their families.
Better diagnostics give us ability to understand new diseases and mutations that cause them to better serve patients and to find new treatments and medicines that work.
The first step in solving any problem is identifying the problem correctly. This can only happen through continued research and public policy that invests in and promotes innovation.
Our understanding of diseases like cancer, for example, has become more intricate and detailed. Today, we understand there is not just one type of breast cancer, for example. There are dozens of different cancers that respond differently to different kinds of therapies.
This detailed knowledge has led to the development of better, more targeted treatments that have extended and saved hundreds of thousands of lives.
We hope that discoveries like these will eventually be applied across all diseases, including the very rare ones, like the KCNQ2 mutation affecting our son.
Today, with a proper diagnosis and the backing of our medical community, our family continues to fight. We are the proud parents of an amazing, beautiful, happy boy. James brings a smile to the faces of those around him and has taught us all valuable lessons about life.
Even though there is no cure for our son, being linked to medical professionals familiar with his condition and to the support of hundreds of other families of patients wrestling with this disease has helped focus our efforts and given us the emotional support needed to continue our fight.
Caroline Loewy is a mother, parent advocate and is CCO of Corcept Therapeutics.