“Are you sitting down?” is not a question you want to be asked when your child’s doctor calls
to give you test results. I remember feeling sheer panic. My mind jumped to the worst possible conclusions. She then explained that the results of my son Beau’s genetic testing showed that he had Fragile X Syndrome. At the time, that meant nothing to me. I had never heard of it. All I wanted to do was hang up the phone and Google it.
“Is it life threatening? Does it shorten his lifespan?” I asked. I clearly remember when she said no, I felt an incredible sense of peace and relief. “Then what could be that bad?” I wondered.
“Don’t Google it,” were her next words. “You’ll see worst case scenarios and the people you read about may have multiple diagnosis that your son might not have.” My life was forever changed. I began by doing as much research as possible on reputable websites, like the National Fragile X Foundation, and checking out books at the Northshore Families Helping Families’ office; but none of the information changed the immense love I felt for Beau. What I learned is that July is National Fragile X Awareness month. Fragile X Syndrome is a genetic condition that causes intellectual disability, as well as behavior, learning, and language challenges. Although Fragile X occurs in both genders, males are more frequently affected, and generally with greater severity. At the time, Beau was two years old, walking, but falling a lot, very noisy, but speaking few words, super moody, but also super loving. Over the
next year, as I continued working with his speech, occupational, and physical therapists, as well as looking for guidance and answers from doctors, Beau was diagnosed with ADD, OCD, severe anxiety, and sensory processing disorder. Even with medication, Beau’s frustrations due to his various disorders and lack of communication skills often bring on major meltdowns, including aggression to himself and others. Speech is a major area of frustration for him because the ideas are in his head, but he struggles to express them. He currently uses a mixture of PECS picture cards, signs, words, sounds, and pointing to communicate his wants and needs. With the help of wonderful speech therapists over the years, he is steadily making progress and just last month he gained and kept five new words.
On an even brighter note, Beau can be the sweetest, cuddliest, most lovable child in the world. He loves to hold hands and gives many impromptu pats, hugs, and kisses. He loves being a helper and works extra hard for verbal praise. He’s also really funny and he knows it. Even without many words, he keeps us laughing. His facial expressions and comedic timing are impeccable.
Looking back, I definitely experienced the full range of emotions associated with grief after finding out his diagnosis of Fragile X Syndrome: shock, denial, anger, bargaining, depression, and acceptance. I would also add “guilt” to the list, as I also found out that I had passed the mutated X chromosome to him. I read in a book that it was okay to mourn the loss of the life you had imagined, and that’s exactly how it felt. But you can’t stay in that dark place for long, because it is not changing anything or helping anyone. I battled my way through these emotions with the support and encouragement of friends, family, and everyone who worked with Beau, and I’m happy to say I came out stronger, more appreciative of the little things, more determined to fight for my son’s rights, more patient, and more in love with my little guy than ever.
Beau is now five years old and we are in an amazing place. He will start his kindergarten year in August, in a special education classroom. He loves to be outside and will gladly play with any ball. He also surprised us all by being an exceptional swimmer. We have the unconditional love and support of our family and friends, so many excellent teachers and therapists that have joined our journey to help Beau find success, Fragile X specialists at Ocshner who guide our medical needs, and an awesome First Baptist Church family who welcomed Beau into the Special Friends class with open arms. We pray our way through every challenge and praise God for every victory, no matter how small.
The best advice a special education teacher told me was to keep my expectations high for Beau. That doesn’t mean setting him up for failure, but it does mean that the standards I have for myself as his mother, anyone who works with him, as well as for him are very high. The goal is to help him reach his full potential.
These days, I relish the love, laughter, and silliness that Beau brings into our family and count him as one of my greatest blessings. We are on this journey together and figuring it out as we go. I have no idea what the future holds, but I do know that my son is not defined by his disability and will change many lives for the better, like he has done mine.