I first became aware of this strange human condition in junior school. We had been set a project by the art teacher. I wanted my picture to be perfect, the best I could make it, so I was most taken aback when she instructed me to put down my ruler. “Nothing in nature has a perfectly straight line.,she said. She pointed out the curve of the horizon, the undulation of the playing field, and I realized she was right. I was to find in later years, that even things man-made are not always perfectly straight, when it came to decorating my first home.
This search for perfection can be quite destructive. We’ve all witnessed the pushy parent, the anorexic, the ‘keeping up with the Jones’ types; they’re all sad reflections of our insecurity and desire for perfection. Yet nature saw fit, (or God did, depending on your viewpoint), to gift mankind with all the flaws of what it is to be human. Some of us were made more flawed than others.
Take my daughter, Carys; she was born with CFC syndrome. Cardio Facio Cutaneous Syndrome. Quite a mouthful. It has to be. Anything less would not do it justice. It makes her less than perfect. But what does it mean?
Medical literature may tell you that it is a spontaneous mutation of the BRAF, MEK1 and MEK2 genes. With Carys, her BRAF gene is affected. You don’t know what that means. I don’t know what that means. I don’t need to. It’s an after thought, you know, an ‘after- the- horse-has-bolted’ kind of statement. It doesn’t change anything. It’s not hereditary. We can’t pass it on to future generations. It was a once off thing. It just happened, and no-one knows why. Apparently, genes don’t have a perfect replication process.
Carys is nearly nine now. She goes to special school, and she loves it. She can’t talk or sign, so how do I know? Believe me, I know, and so would you if you could see her going onto the school bus in the morning. She can’t walk but she can crawl, and manages somehow to move about after her toys well enough. She has a smile brighter than the sun. She is interested in everyone. More than once I have been told that she brings out the best in people, and it’s true, I have seen it happen so many times. Young children in particular, love her, are fascinated by her, want to take care of her.
The question is, would I swap her for a ‘perfect’ child? One that walks and talks, can feed itself and use a toilet. One that can learn to read and write, form independent relationships, with potential for a career, marriage, children of it’s own. One who will be able to offer me a normal life as I get older, my body weaker, and I head on into retirement.
To you, the answer may be obvious, but believe me, it is such a loaded question.
I want the best for Carys, but if I replied yes, I would be betraying her; I would be admitting that she is not good enough for me, not perfect. But I am a mother, and we all know how imperfect moms are. Of course, I would be lying if I said I didn’t want for her everything other children have. I have mourned that, often. It has taken a long time to come to terms with what, and who, Carys is. But I have had the strength of something amazing to guide me; a mother’s love, and I have learned to love Carys just as she is.
If I said no, would you even believe me? You may think me a bad or cruel mother, condemning my daughter to such a difficult life. The fact is, I didn’t decide on the route her life would take. It is as it is, whatever my feelings. It would certainly make my life immeasurably easier if the CFC was magicked away. But it wouldn’t make me happier. And for the most part, Carys enjoys her life so much, even within its limitations.
So, day to day, how does CFC impact on us? OK, the obvious ones first. Carys is nearly nine, and she can walk only a little way in her walker before tiring. She can’t steer it. She has to wear splints, which are little leg braces, every day, as her muscles and ankles are weak, and her feet turned in. If we go out, she is in a wheelchair or has to be carried, and she is heavy. She can crawl around the floor to get where she wants to go. She can sit up, lie down, pull to stand, and is on the verge of cruising. This is all thanks to ongoing physiotherapy.
She can’t speak, although she is very vocal, makes lots of sounds, and loves to hear her own voice. She can only communicate on a very basic level, such as smiling, crying, clapping, screaming, and making eye contact. She understands some words, such as kiss, hug, music, dancing, up, sleep, school. She can follow a simple instruction, such as stand up, sit down, kiss mama, hug mama (very important, these last two, because they make all the hardship worthwhile).
She doesn’t get signing, and has very little hand function or fine motor skills anyway. She smiles at picture cards, but I know she doesn’t understand them as a means of communication. She adores music, and will sway from side to side, kicking her feet up to dance. She loves playing with anything that makes a noise if you hit it, throw it, bang it or drop it, particularly if it is something musical.
For many years, she didn’t drink fluids at all, but now she drinks about a litre a day, and holds her beaker herself. She can’t feed herself, and can’t chew, so all her food has to be mashed, but at least she doesn’t need a feeding tube like so many others. Speech, occupational, and physio therapies have been intense, daily routines. Her delayed development has been graded as moderate, equivalent to age around 10 months. But she is nine. It feels profound.
Her looks are typical of a child with CFC. She has thick black brittle curly hair. Her eyes are the palest pale blue. Her skin is golden as she has so much pigmentation. It is also very dry and thick, and prone to breaking up on hands and feet. She has no eyebrows, and short sparse eyelashes. Her eyes are wide set, slightly drooping. Her ears are low, and slightly rotated . She has no bridge to her nose, just a round little stubby upturned thing. Her forehead is wide, and she has a large scar above her left eye, where a haemangioma (birthmark) grew so big, it had to be surgically removed at four months old for fear of losing her sight. She has slight hearing and sight loss, but nothing significant enough to warrant correction as yet.
Despite all this, children with CFC are very pretty. I think the personality animates the features anyway, in which case the features themselves take second place, become less obvious. You think I’m just being brave? Then you have clearly never got to know a child with special needs. If you have, you’ll know exactly what I mean. That’s nature showing it’s perfection yet again.
Unfortunately, there is a danger, which lies within. Carys has a serious, and severe heart condition, called Hypertrophic Cardiomyopathy. It’s a killer. Think of all the stories you have heard of football players dropping dead on the field; the cause is usually Cardiomyopathy. Many CFC children have this condition to varying degrees. Its a black cloud we have to learn to live under, which will never go away. She will never be able to play active sport. We have to be constantly on the lookout for signs of heart failure. When she’s older she may have to have heart surgery, but its a last resort. Surgeons don’t like doing it, as in so many cases, the condition soon returns.
She has epilepsy, although she has been seizure free for five years now. She also has cortisol insufficiency, so she can’t fight off illnesses very well. And she is being monitored for growth hormone, as her levels are border-line. As you might expect from all this, she is on many medications, which she must have daily for the rest of her life. But she can’t take them orally, unless I crush them and mix them with her food, which tastes vile. It’s like chewing on paracetamol, I know, I’ve tried it. She has been in hospital many times in her short lifetime so far, but thankfully, our experience of children’s medicine and medical staff in Ireland is very positive.
Every day, Carys goes to ‘special’ school, which is just perfect for both of us; we need a break fro each other now and again! The bus picks her up around 845 and returns her at 320pm. All her needs are met with regard to therapies, and I can concentrate on the fun and the social with her. I can’t explain the weight this has lifted from my shoulders.
I couldn’t feel this new freedom if Carys had not approached school in such a positive and happy way. She has her moments, which can be hard to deal with. She goes through phases. Like the terrible screaming fits every mealtime when I am trying to feed her. Or the nights when she just won’t sleep. And the times when she would get upset for no apparent reason, and hit herself repeatedly in the face with the back of her right hand. Pain? Boredom? Frustration? Despair? It’s very hard to know for sure. Does she know she’s different? Possibly. She can’t say, and I can’t read minds. What would I see anyway, if I was to look inside Carys’ head? Her EEG’s show ‘abnormal’ activity. Well, who wants to be normal, anyway?