Some scars fade, some never will

I’m excited to announce a new partnership with Holland Bloorview’s family advisory committee (FAC). The FAC works with staff to ensure that the needs and priorities of families shape Holland Bloorview services. In order to build the capacity of our blog, a number of FAC parents have agreed to participate as BLOOM bloggers. I’m excited to introduce our first FAC guest blogger, Lori Beesley. Lori and I learned we had a lot in common a couple of years ago, when she called me about promoting the Fragile X Research Foundation of Canada. She used to work with my brother and we both have sons with intellectual disability. Thank you so much Lori for sharing here! Louise

Some scars fade, some never will
By Lori Beesley

I will never forget the moment our son Mitchell (above) was born.

I expected to hear: “It’s a boy!” or “it’s a girl!”

But that’s not what I heard. Instead, our doctor quietly, but with great urgency, told a nurse to “Get the pediatrician on duty stat!”

Our son had a small birth defect, she said. I saw her put her finger into his misshapen mouth and she told us that he had a cleft lip. It seemed that his palate was intact and we should be happy about that, she said. Happy about a birth defect? I wasn’t.

Every expectant woman says she hopes her baby is born healthy. But really, isn’t that our expectation? There are plenty of statistics at your disposal showing that not all babies are born ‘perfect.’ But you push those numbers out of your mind and focus on cute bedding for the crib, teddy bears and what stroller best fits your lifestyle.

Our son, Mitchell, had two facial surgeries to repair his cleft lip before he turned five months old. By now we knew all about cleft lips and palates and we were happy that his palate was intact. However, as I held him in SickKids Hospital, counting all those stitches on his tiny face and lip, I felt somehow that I had failed him. I had taken good care of myself before and while pregnant, ate well, taken folic acid and prenatal vitamins, but still, the unexpected happened. I remember thinking “This better be the worst thing he has to go through as a child!”

After his second surgery, Mitchell wore a plastic spacer in his nose for six months (to help form nasal cartilage). It was held in place with a strip of surgical tape. I will never forget people seeing the stroller and saying “Oh, can I see your baby?” followed by the looks: shock, surprise and discomfort. More than once, people said: “Oh my God, what's wrong with it?” and looked at me with disdain. These reactions always took me by surprise, because while I was aware of his facial difference, I didn’t define him by it.

In the months following Mitchell’s surgeries, we were forced to recognize that he wasn’t meeting his developmental milestones. We could no longer deny his delays or attribute them to surgery. We began to investigate and the next year was filled with many tests. As a last-ditch effort to discover the cause behind his significant developmental delay, we were sent to a geneticist. She performed a simple blood test and told us to come back in six weeks.

Two days after Mitchell’s second birthday, we sat in the geneticist’s office while she told us our son had a genetic developmental disability. She said it was life-long and there was no cure. Mitchell was diagnosed with Fragile X Syndrome.

I remember feeling numb, guilty, terrified and relieved all at once. The guilt came from knowing I had carried the Fragile X gene that was passed to Mitchell. We had no prior knowledge of it, or any family history, so I quickly had to ‘forgive’ myself and think – you know what, you passed along your brown eyes and you didn't control that, so this has to be thought of in the same way. The terror and numbness came from entering the vast Fragile X and special-needs world. We suddenly had a whole additional layer of parenting added to our lives. The relief came from knowing we had an exact diagnosis and could start to do something – read, educate ourselves, seek out targeted therapies, meet people with expertise in this area and know what to expect. Knowledge is calming, and makes me feel in control.

Mitchell’s childhood was suddenly filled with therapies – speech, occupational and physical – and countless doctors’ appointments. His life and our own changed forever. No simple surgery could fix this.

It took a while to stop seeing the disability and start seeing Mitchell again. It struck me one day, as I filled out one of the forms that were as much a part of my life as changing diapers, that I thought of myself as the mother of a ‘special-needs child’ and not just Mitchell. Was I defining my son only by his disability and not looking deeper? Had I become like one of those people who said inappropriate things after peering into Mitchell’s stroller? I vowed that day to stop seeing Fragile X before I saw Mitchell. There were other things about Mitchell that were unique and precious that I needed to focus on.

Mitchell was still our son who laughed when you put a blanket over his face, was content to lie on our bed and watch the ceiling fan, and loved to play with toy trains and cars. He’d scoot around the house on his bum and close all the doors. He enjoyed playing with pots and lids. He’d squeal with delight anytime he was around water. Mitchell was still adorable, curious and ate and slept well. My son’s smile could still light up a room.

My son’s Fragile X is largely invisible in that there are no physical characteristics at birth, or even during early childhood. Even when those characteristics manifest themselves around puberty, they can be subtle and vary: a longer face, ears that stick out, a pointy chin or a high forehead. It might sound strange, but there have been times that I wished there was something about Mitchell that labelled him – like a pale purple X on his forehead.

Perhaps then others wouldn’t look at him with puzzled faces when he acts years younger. They would understand why he wanted so badly to ride in the grocery cart shaped like a rocket at age 10, or flaps his hands with excitement while waiting in line for an ice cream cone.

At times, I want to rush over and explain about his Fragile X. I don't think I do this out of embarrassment, but rather to raise awareness. So many people have said to me “He doesn't look disabled” and I say "Yes, this is what it looks like" and try to have a discussion.

I feel like a part of my job as Mitchell's mom is to help to remove the stigma around intellectual disability. I can't be in the lab, finding a cure, but I can educate, create awareness and help others. I owe that to him. That is how I cope, how I feel like I can do something positive. At other times, when Mitchell is acting inappropriately in public, I just go with it and really don’t care what others think. I just want to be his mom and not feel like I have to educate everyone.

The most frustrating thing about Fragile X is not knowing what it's like to be Mitchell. If I could just be Mitchell for a day – or even one hour – and get inside his head, I believe I’d be a much better parent.

So many times I don't understand why he does what he does and that’s hard to deal with.

I don't get how he has to have certain things lined up just so, like the napkins in the napkin holder, but will then scatter his movies all over the floor and not care. I don't get why we had to teach him to walk on grass when he was little because of his bad sensory issues, yet he'd attempt to walk through, rather than around, a prickly juniper bush. I don't get how he can memorize an entire movie after watching it only a handful of times yet it took him years to learn his colours. A friend who has a daughter with an intellectual disability recently told me that her daughter is a study of ‘wonderful, frustrating contrasts’ and we laughed together because that description says it all.

Mitchell is now 16-years-old and his cleft-lip scar has faded to the point of being undetectable. But Fragile X Syndrome, while largely invisible physically, is a part of our lives forever. It won’t fade with time. I used to say that knowing what I know now, I would trade a simple cleft-lip surgery every year if it meant no more Fragile X in our lives. Isn’t life ironic?