Our youngest son is turning 16-years old. As we celebrate this milestone birthday, I can't help but look back with love, relief, and gratitude over the last sixteen years. What a journey it has been!
From the very beginning, life with our youngest son felt different than our experience raising our oldest son. In his first weeks of life, he was prescribed his first of many rounds of antibiotics. As an infant, toddler, and preschooler, he suffered from chronic respiratory illnesses, asthma flares, and related feeding challenges. I remember night after night sleeping in an old recliner with him so that I could keep him upright and treat him with the nebulizer machine throughout the night. Neither of us slept well for months at a time. Our world revolved around keeping him healthy and treating his illnesses.
But he was the happiest child I ever met. Although he never cooed or babbled, he smiled and laughed easily and frequently. He rarely cried despite his frequent illnesses and physical struggles. He stole the heart of all who met him.
Because he was a large baby, I wasn't overly concerned when he initially failed to meet important milestones like sitting up independently, rolling over, or even crawling. The steroids that they prescribed to help him breathe puffed him up and added to his naturally large body size. I figured that learning to use those muscles was harder when you were such a big boy. By nine months old, it was evident that we needed some intervention. That's when we first entered the world of early intervention and therapeutic services. And what a journey it has been.
Every week for three years, three therapists visited our home to provide one-on-one intervention services for speech, physical therapy, and occupational therapy. While working full time, running with the fire company, and raising a school age son, we met with therapists to try to gain skills that our son was lacking. Back in those days, not everyone agreed that these were necessary services. My husband and many other family members felt that our son "just needed time to grow and catch up." My training in early childhood education and exceptionalities, along with my motherly intuition told me that he desperately needed all the help we could get him. I felt very alone during this time.
As they attempted to explain the delays our son was experiencing, he went through frequent tests, scans, and specialists. At one point, his neurologists diagnosed him with Craniosynostosis. This rare condition in which the sutures of the skull prematurely close on a baby, can cause pressure on the brain, brain damage, and facial deformities. With that scary diagnosis, we were sent off to the Children's Hospital of Philadelphia (CHOP) to consult with a neurosurgeon and plastic surgeon. The plan was to cut open our one-year olds skull and insert spacers so that his brain would have room to grow and expand.
At CHOP, they reviewed his scans, met with us for less than five minutes, declared he did NOT have Craniosynostosis and sent us home, relieved but no closer to identifying what was wrong with our gorgeous, sweet baby. Where did we go from there? We still didn't have answers. It would take twelve more years and MANY more specialists until we would finally get answers.
When it was time to transition from birth to three services, to preschool services, our son wasn't going to qualify for the same level of supports. Despite only having two word phrases at the age of three and continued gross motor and fine motor delays, he had made too much progress and wouldn't qualify educationally. That's when we needed to transition to medical therapeutic services instead of educational therapeutic services. What?!? I needed to quickly learn the difference and how to pay for those differences. Our health insurance would only cover five weeks of therapy at an out-patient therapy center. As a result, I soon became an expert on health insurance and medical assistance through the medical loophole.
Out patient therapy complicated our lives tremendously. We now had to coordinate the schedule of three different therapists with our work schedules. Without the patience of our employers, the support of my in-laws, and my husband's elder great-aunt, I don't know that we would have survived that time. Through it all, we tried to keep life as normal and routine as possible for our school age son. He didn't ask to have a brother with special needs. He wanted to have friends, play sports, and be active in school activities. We could keep his life "normal" AND get our youngest son all the services he needed to "catch him up" so he could "be normal" some day. Right?!?!
Wrong. Our marriage struggled. Our health struggled. My weight ballooned. We were a wreck. We desperately needed to make changes in our lives.
So, we refocused. On our marriage. On our priorities. On both our sons. And we gave ourselves the grace to be a wreck. To be imperfect. To do our best and know that it wouldn't always be good enough. It often wouldn't be good enough. But it would always come with love. And honesty. And teamwork.
From then on, life did get easier. Our youngest started kindergarten and transitioned to school age therapies (speech, OT, and PT) at school. We changed to an out patient therapy provider that had scheduled hours more compatible to our work schedules. We kept in close contact with our son's educational team but let them be the experts in his care and provided support as needed.
As time went on, his health improved. It required less intensive oversight and management. The number of specialists that he saw routinely decreased. The number of medications that he took decreased. Eventually, with time, the number of therapies that he received would decrease.
We grieved the loss of who we thought our son would become and fell in love with the exceptionally beautiful reality of who our son was meant to be. He is a child of God. Created in His image with a purpose and a plan that we cannot yet imagine but look forward to watching unfold.
When our son turned thirteen, a new neurologist recommended repeating his genetic testing. After thirteen years of searching for answers, we found our answer. Our son has a rare genetic condition called Snijders-Blok Campeau Syndrome. He has a mis-spelling on one of his CHD3 genes. Every cell of your body has two CHD3 genes. It takes one error, on one of these genes to cause a series of genetic anomalies that can result in global developmental delays, speech issues, cognitive issues, autism or autistic qualities, scoliosis, and hypotonia (low muscle tone). So far, every individual with CHD3 gene mutation is unique and different. We are blessed that although our son has almost every characteristic of this syndrome, he is not intellectually impaired. He has average cognitive ability and has often been the best source to problem solve the challenges that he faces.
https://medlineplus.gov/download/genetics/condition/snijders-blok-campeau-syndrome.pdf
Receiving his diagnosis lifted a burden from my heart that I had been carrying for thirteen years. I wasn't "imagining" that something was wrong with my child. I wasn't looking for something to be wrong with him. I felt relief because now I KNEW. I could help him walk through life proudly and navigate whatever came next with knowledge and information instead of stumbling blindly through the darkness. It wasn't my fault. I hadn't done anything wrong. He was beautifully perfect the way he was meant to be.
Our son takes pride in his diagnosis. He is unique. There are less than 150 people globally that can say they have his diagnosis. He likes to educate people on his condition. Knowledge is powerful.
Sixteen years ago, we had a child that was hearty in size but medically fragile. I lived day to day secretly wondering if I would get to see him grow into adulthood. It was my hidden fear that I would outlive this beautiful child of mine. Sixteen years later, we still have challenges to face and progress to make, but he is a big, healthy young man who towers over me whenever he grabs me for a hug or kiss (which is FREQUENTLY!). I no longer live in fear that he won't grow to be the amazing man that I know he's going to be. Instead, I look forward to the journey and seeing where he's going to take us. His heart is bigger than his giant body. His faith could put the most devout to shame. His resilience is humbling. And the lessons he is going to continue to teach us have no limits. I'm so proud of who our son is, who he is becoming, and who he has yet to become.
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