All posts tagged genetic testing

A Tale of Two STXBP1 Journeys

Based on my personal experiences, and by simply observing the typical diagnostic Odyssey, I am struck by striking realities of what seems to be happening from a genetic testing standpoint. On the one hand, we have families with babies being born near cutting edge facilities who seem to be getting their diagnosis early (within weeks or in early months).  This is good in the sense that those babies will have treatment earlier. These babies are diagnosed because they have unmistakable seizures quite early and many times they have infantile spasms.  Treatment is critical during these early stages of development.

On the other hand, we have families whose children were born prior to 2011 (when STXBP1 was added to the epilepsy gene panels) or those children, like mine who don’t display characteristics that seem to warrant genetic testing (i.e. insurance would not approve testing). For many of us in this second group, it took years of pulling our hair out, hours of research on Google, remembering back and blaming ourselves for everything and anything that occurred during pregnancy. I remember crying in agony to a developmental pediatrician convinced that I had eaten too much salmon and feared I had hurt my child.  He was great at putting that to rest but the searches and obsession went on and I always came up short.

Many of us fought and pleaded for our answers only to be defeated by the denial letters from insurance companies. My son, Mitchell, was first diagnosed with CP and the insurance company used that initial diagnosis to argue that understanding the underlying genetic reason would not alter treatment (boy were they wrong).  Much to my horror, my son had likely been having seizures from his early days of life.  Mitchell’s seizures were subclinical and I picked up on it when he was about three months old but could not convince his physicians to order an EEG.  In addition to many different types of seizures, he also had infantile spasms.  He was nearly two years old when he was finally diagnosed with STXBP1. If not for a family member, who also detected seizures, my journey would likely have lasted longer. I complain about the agony of not knowing what was wrong with my child until he was two but I am still one of the lucky ones.  There is one family in my group whose child was not diagnosed until the age of 40 there are also a handful of others who were not diagnosed until their 20s.  Their journey was peppered with several diagnoses until one day someone performed genetic testing.  

Even with some of these adult patients diagnosed, there are likely thousands out there who remain undiagnosed. Currently, some physicians do not like to genotype older patients. They have their reasons, however, they could be robbing families of their closure and creating blind spots for those of us working towards creating natural history studies. We want to understand how a disease progresses for different patients over time so that one day we may find a cure.

I hope that one day the landscape will change so that we don’t have to put families through this horrific pain of not knowing. The cost we endured both financially and emotionally would have justified the cost of genetic testing. Costs for gene testing are coming down in price and it would be great to allow families to “opt-in” and it would be even better if we could guarantee insurance companies could never deny a pre-existing condition.  As sequencing costs come down, there could be a significant cost savings in DNA testing and it could take the place of the many of current newborn screens.  We standardize this as a country, reduce storage and processing fees, get faster, and more accurate answers.  Most importantly, we could save lives and join patients into communities.

After sequencing, what is next? DNA is very complicated and often we don’t know what a every change REALLY means. This is where making inexpensive animal models such as zebrafish and worms could help us characterize these changes. There are companies out there such as https://nemametrix.comwho is beginning to do this.

Maybe one day we will have a brave new world where there is one journey, a diagnosis for families that want it in the first days of life, and a treatment specifically geared towards that mutation.

–Anne