My Journey with Fragile X

“Life with Fragile X is not easy. It has taught me to adapt and strive for infinite patience, endurance, and determination to advocate for my child and other children with disabilities.”

By Elizabeth Hoffman

My son was 12 months old when a routine doctors visit became a life-changing moment. We were at his one-year-old wellness checkup when I mentioned a few things that had been bothering me: he had not spoken any meaningful words yet, he continued to hate spending time on his tummy or crawling, and he had made no attempts at walking yet. Our pediatrician looked me in the eye and said in the most ordinary way, as if she were reporting the weather forecast for the day, “Your son probably has autism.” 

To say I was floored would be an understatement. I rushed home to my husband to share the announcement, shaking and crying with disbelief. There were no known disabilities or neurological conditions on either side of our family. We were in shock. 

In the midst of my grief, I threw myself into research, devouring every book and website I could find that might give me answers. Over the course of my search, I understood that something was different about our son, but I didn’t feel like the doctor’s assessment rang true. My son was a very social baby. He made appropriate eye contact with everyone around him. He sought out other children and adults for social interaction. He wasn’t verbal, but he was communicating with us every day in lots of non-verbal ways: the baby sign language I had been teaching him, lots of eye contact and laughter, and total engagement with music, especially my singing. 

What followed was an excruciating year of seeking answers to the unknown question: what exactly was happening with our son? Why couldn’t he speak? Why did he have so many gross motor delays? Why did he completely melt down when I took him to the grocery store? Why did he start pulling the hair of those around him, particularly lashing out at me? As he became increasingly anxious in busy spaces, especially those with loud noises and bright lights, I wondered if he was experiencing sensory processing issues. 

We talked to many different doctors and specialists. Our pediatrician recommended speech therapy and we started going twice a week. We had him formally assessed for autism, and when another pediatrician looked at the results and said this isn’t quite right, he sent us to a research hospital for genetic testing. A few months later, at 28 months, my son was officially diagnosed with Fragile X Syndrome. 

Fragile X Syndrome (FXS) is a very complex disease, to put it mildly. Researchers have only been able to fully study it starting in 1991 thanks to the Human Genome Project. Fragile X is an inherited genetic condition caused by a mutation in a single gene on the X chromosome, hence the name. It is a fairly rare condition, affecting 1 in 4000 males and 1 in 6000 females. Around 1 in 259 women carry Fragile X and can pass it to their children. Approximately 1 in 800 men carry it and can pass it to their daughters. Fragile X Syndrome is the most common cause of inherited intellectual disabilities and one of the leading known cause of autism. (source Fraxa)

The condition is insidious. It often passes through generations unknowingly, and carriers can be completely unaffected, showing no signs until they pass it to a child and the gene fully mutates. A diagnosis for the child can become a diagnosis for the carrier and previous generations: carriers are at risk to develop two related disorders: Primary Ovarian Insufficiency and Fragile X Associated Tremor/Ataxia Syndrome. Both have life-altering effects, including early menopause for women.

Fully mutated Fragile X symptoms present on a spectrum ranging from mild to severe, including intellectual disability, ADD, ADHD, autism and autistic behaviors, sensory integration disorders, speech delay, social anxiety, epilepsy, and an increased risk for aggression. People with Fragile X have a desire to socialize, but social anxiety and mood instability make the simple act of greeting someone a monumental challenge. Children with Fragile X may have low muscle tone, hyper-flexibility, flat feet, and often have long faces and large ears. Intellectual disability may range from moderate to severe but the majority of males with FXS have significant challenges. 

The diagnosis was a bittersweet moment for our family. On one hand, we finally had an answer to the terrible unease of not knowing. Not knowing how or what you can do to help your child is one of the most painful feelings I have ever experienced. By now our son was two and a half years old and the problems were rapidly multiplying. It became almost impossible to take him out in public without serious meltdowns. I desperately wanted to help him communicate and decrease his anxiety, and I was relieved to finally have a direction to follow. On the other hand, Fragile X was a very difficult diagnosis to come to terms with: there is no cure and this condition would have a permanent, lifetime impact. 

I once again threw myself into research and action; it was how I coped with the feelings of helplessness when met with a condition I could not reverse. We continued going to speech therapy and started using the Picture Exchange Communication system (PECS) to help him communicate. Without a doubt, communicating was our biggest hurdle. Our son couldn’t speak, so we had to find ways to help him tell us his needs. PECS helped us immensely, and we used a lot of visual stories to communicate with him. We enrolled him in an Early Intervention (EI) program, where he got Speech, Occupational Therapy and Applied Behavior Analysis (ABA) therapy five days a week. We joined the National Fragile X Foundation and went to a conference. I started going to local coffee groups to talk with other parents and joined online support groups. We found a system of support that helped our family. 

Unfortunately, the challenges kept coming. When our son was three, I noticed him staring off into space one day after his nap. He was completely non responsive to my voice for over a minute, as if he was conscious but not present. Panicking, I grabbed my phone and filmed the episode. This strange behavior continued over the next week, prompting me to head back to the doctor. It was terrifying to witness; it was if my son was disappearing before my very eyes. Afterwards he was tired and out of sorts, often aggressive with me and his father. 

Thanks to my videos, the doctor referred us to the neurology clinic. Our son underwent numerous EEGs and MRIs, which were excruciating due to his sensory issues. But eventually it became clear that he was having seizures. Epilepsy can occur in about 25% of children with Fragile X, and we were in the unfortunate minority. Our son’s seizures were complex, varied and did not respond to medication. We spent another year recording his episodes, flying around the world to see doctors, trying endless combinations of medications, and doing multiple EEGs and even an overnight stay at the hospital. His quality of life was deteriorating: plagued by fatigue and aggression, his Early Intervention team suggested we leave the EI program as they thought his episodes were preventing him from benefiting from the program. Thankfully his doctor’s recommendation that he continue therapy kept him there. Early Intervention is critical for young children like our son. At our lowest low, our four-year-old son was having 20 seizures a day. I quit working so that I could care for him full time. 

We had a breakthrough when one of our doctors diagnosed him with a specific type of childhood epilepsy called Lennox-Gastaut syndrome. This diagnosis allowed us to become eligible to try a brand-new CBD anti-seizure medication called Epidiolex. With it and a combination of other drugs, our son’s seizures finally stopped when he was five years old. Not only that, but the drug seemed to improve his speech as well. Previously, he had a working vocabulary of between 20 and 30 words. On the new medication, his language acquisition exploded. He had new words emerge almost every day, like a little parrot following us around the house. He started using sentences. I finally heard him say the word I had been waiting forever to hear: Mama. 

My son turned seven last month. He is enrolled at a special education school and continues to improve and confront the challenges of Fragile X every day. He loves to sing and dance, laugh and make jokes, swim, jump on the trampoline and especially play with his new little sister. They are more than 5 years apart in age but are developing a beautiful, close relationship. Life with Fragile X is not easy. It has taught me to adapt and strive for infinite patience, endurance, and determination to advocate for my child and other children with disabilities. We have an incredible team of doctors and therapists supporting us and we could not navigate this world without them. I have learned so much from them, strategies that make our day-to-day life run more smoothly and help our son achieve the best possible version of himself: happy, communicative, and well-regulated. We continue to learn more about Fragile X every day, and work to help him have the quality of life he deserves.