Few things can shake you to your core as deeply as your child facing lifelong health challenges.
Whether it’s an obvious abnormality during a prenatal scan or seemingly minor developmental delays that stack up over time, it is traumatizing. Compounding that stress is the time it takes to get answers: weeks, months, even years.
That’s the thing about modern medicine, when it comes to genetics it often feels like we’re still in the dark ages.
Thankfully there are many bright lights for those heading down this road less traveled. “The explosion in the ability to test for genetic differences, and the increasing accessibility of testing, has been so wonderful for patient care,” said Katheryn F. Frazier, MD, Associate Professor of Pediatrics and Neurology at UVA Health. “When I started training, whole exome sequencing (WES) was still only in the research setting and now our geneticists send it on a regular basis. Advancements in gene therapy are another remarkable development which I believe will only become more common in the future. We can now identify a lethal genetic syndrome (SMA Type 1) in a baby on a newborn screen and administer gene therapy and completely change their trajectory – preventing death in the first years of life and see them thrive and make forward developmental progress – absolutely incredible!”
Advancements are indeed coming fast and the field is growing. According to the U.S. Bureau of Labor Statistics, employment of genetic counselors is projected to grow 18 percent between now and 2031. Tahnee Causey is the supervisor for most of the genetic counselors at VCU Health as well as the director for the Master of Science program to train more genetic counselors. “I loved genetics from the time the topic was introduced in high school biology. From that moment on, I knew I wanted to be a genetic counselor,” Causey said. “Helping families adapt to a new genetic diagnosis is a way for me to combine my love of genetics with helping profession.”
For families in limbo though, the wait for these advancements can be excruciating.
Sarah Lepore’s first concerns with her son Charlie came during her pregnancy in 2011. Her doctor noted his head was growing well ahead of the rest of his body. At just a few months of age, he wasn’t hitting developmental milestones. Genetic testing revealed a microdeletion of the 7th chromosome on the gene AUTS2. Lepore, who has a Master of Science in Nursing and is a Board Certified Neonatal Nurse Practitioner, knew that head size is often part of a defining feature of a specific diagnosis in genetics. Since Charlie had macrocephaly (a larger than average head size) and not microcephaly (a smaller head size) which is common with AUST2 – Lepore suspected the diagnosis was wrong.
She pushed for WES. Her family had to wait a year before WES testing was available. The 2013 results were normal. In 2015, the lab compared his results to new gene discoveries and found a variant of unknown significance. It wasn’t until 2018 that they had the answer: Charlie had a pathologic variant on the gene mTOR called Smith-Kingsmore Syndrome (SKS).
“Our struggle with getting a diagnosis was due to the lack of accessibility with affordable genetic testing,” Lepore said. She noted that Charlie’s primary and secondary insurance refused to cover the WES testing because it was so new. Lepore’s tireless, personal research found the company GeneDx would appeal insurance companies if needed, and that’s how they got the answers they needed.
Tenacious advocacy is often necessary by caregivers to get children with rare diagnoses the care they need. Jessica Stubbs recognized her now 12-year-old daughter Cora’s development was lagging around the one-year mark. What followed was an 8-year rollercoaster of meetings with specialists, MRIs, an autism diagnosis, a research study, enzymatic assays, a genetic microarray test, numerous other laboratory studies, gaslighting, frustration, and tears. Stubbs recalled, “We heard a lot of ‘children all develop at their own pace, and you just need to be patient.’ One specialist diagnosed her with ADHD and said she’d grow out of everything. Most doctors were a bit more honest and told us that while they clearly saw that Cora had something going on, they weren’t sure what it was. I had one neurologist treat me like I was totally crazy, and dismissed my questions as ridiculous … I regularly endured criticism from family members who thought Cora’s difficulties were due to my parenting skills. That was really hard.”
Eventually as neurology and genetics advanced, Cora was diagnosed with Phelan-McDermid Syndrome. This was found in a very small substitution of one letter in the coding region of Cora’s SHANK3Gene on Chromosome 22. As her father Matt Stubbs explained, “She literally has one letter change in that particular region of her genome.” This letter difference tells that particular sequence to tell an enzyme to build the aspartic amino acid instead of the glycine amino acid. Or, as Stubbs put more simply, “Imagine that you’re building a house and instead of bricks your supplier sends you a basket of kittens.”
There are about 350 million people living worldwide with rare disorders, a rare disorder is defined as a condition with fewer than 200,000 diagnosed. According to the National Human Genome Research Institute about 80 percent of these disorders are genetic in origin and 95 percent of those do not have a single treatment approved by the FDA.
The journey these families go on is referred to as a diagnostic odyssey. Finally identifying precisely what is wrong can be a game changer. “A diagnosis leads to better care in many ways. It gives us a reference point so we know what symptoms we need to look for, what the child may be at risk for in the future. It can help with treatment of symptoms if we can refer back to what has worked for others.” Frazier said. “For some conditions that affect multiple body systems over time, it allows us to create and use standardized guidelines so that no matter where you live, you know you’re getting the same care as others with the condition. For me personally, it can also allow me to better help families picture what the future may look like and how we can start preparing so their child gets the best care across the lifespan.”
A diagnosis also allows people to find their people.
Jen Reese’s daughter Cailyn was diagnosed with a condition so rare, STXBP1, that it doesn’t have a syndrome name. By the time Cailyn was diagnosed at age 4, Reese was well aware of the severe seizures, intellectual and developmental disabilities, and total care that came with the condition. The diagnosis prompted Reese to find others dealing specifically with STXBP1. “When she was diagnosed in 2011 and you googled her diagnosis all that came up was the chemistry drawing of the protein compound. I created the first Facebook group supporting the community and met people from across the world,” Reese said. Now there are other groups for other languages.
“Finding out that your son has a rare genetic condition is overwhelming, but at the same time, we found a community,” Lapore said. “We feel less alone sharing our challenges and triumphs with others who understand what we are going through.” The necessity Lapore found in this support system was the catalyst in her and three other families setting up the Smith-Kingsmore Syndrome Foundation where she serves as Vice President. In addition to supporting families, the group collaborates with specialists around the globe and created a medical and scientific advisory team.
A diagnosis, even if inaccurate, opens the door to much needed services and treatments. “Each time Cora got a diagnosis it would help us cover necessary treatments under our insurance,” Jessica Stubbs said. “With school, getting the support Cora needed was constantly a fight… I’ve been blackballed and ostracized by teachers, I’ve cried at meetings out of frustration, and I have felt totally lost and overwhelmed by the school system. That isn’t fair. Parenting is hard enough. No one should have to go through that.”
An underlining theme for most families dealing with genetic conditions, rare or not, is that the effort it requires to access care and services steals opportunities to simply be a family. Seeking a diagnosis, finding specialists who understand the individuals’ needs, setting up services at home, working with schools to provide a free and appropriate public education in a least restrictive environment – these things are more than a full-time job all on their own. Children deserve joy and so do their parents.
This is why it is critical to find the right medical team for your family and remember that you are part of that team. “I continue to be impressed by the children and families that I work with – the way they handle the difficulties with grace, come together, provide support and knowledge, and advocate for their children – I learn new things every day from my families and it has made me a better provider and advocate,” Frazier added. “They are my best teachers.”
The Center for Family Involvement at VCU’s Partnership for People with Disabilities knows how hard this journey is because many of us are living it. It’s why we are launching a Genetics Navigator program along with the Virginia Department of Health. Genetic Navigators have lived experience and training to provide one to one emotional, informational and systems navigational support for children and adults with disabilities or special health care needs and their family members. They also receive additional genetic systems training through the New York Mid-Atlantic Caribbean Regional Genetics Network or NYMAC.
For more information and assistance on genetics and a wide variety of resources call the CFI Helpline (877) 567-1122 or email firstname.lastname@example.org. If you’re interested specifically in assistance for a genetic issue, please note that in your message.