My entrance into the world, twenty-four years ago, was rather dramatic. It wasn’t enough that I was midwife’s first solo delivery, or that I turned over in my mum’s womb after all of her waters had gone, or that they couldn’t give my mum painkillers. Oh no, I needed more than that. You see, when I finally emerged, I missing an awful lot of skin.
Ecrit par Melissa Smith, et publié il y a plus de 4 ans.
My feet looked like blobs of raw, tenderised steak; my knees and stomach were devoid of skin from being curled into the foetal position; the skin on my hands resembled white, slippery gloves that had been pulled half way off; my face was dotted with sores and blisters like cigarette burns, and there was a blood blister in my mouth so huge that it choked me when I tried to cry.
The midwife whisked me away after a very speedy cuddle, returning with a Polaroid photo for my shocked parents to look at in my absence. A doctor appeared soon after, asking my parents questions about their own skin, at which point my dad said that yes, his skin did blister and damage, but never enough to affect his quality of life. A quick examination of Daddy’s elbows and shins later, and he and Baby both had a diagnosis – Dominant Dystrophic Epidermolysis Bullosa.
A genetic skin disease which causes a lack of anchoring proteins in the skin – any friction or trauma, and the skin lifts into blisters, or comes off completely, causing open wounds. Sounded about right, but why was I so severely affected in comparison to my dad? No one could say, but I was put into an incubator, lined with sterile theatre gowns and sheets, and sent off to the Special Care Baby Unit.
That’s where things went down hill very quickly. I did what all babies do, especially those in pain, kicked and thrashed and wriggled around my cot, which, without dressings covering my skin, left me even more damaged and raw. I clawed myself with my fingernails which, due to EB (as it is better known), looked like birds’ talons, hooked and unusually sharp.
Then someone had the bright idea of taping an IV to my head, which I yanked off, along with a lump of skin. Solution? Tape it to the other side of my head instead! I’m sure I don’t need to explain what happened next. This might have been excusable, if there hadn’t been care instructions for those with EB on the ward, provided by DebRA, the charity supporting EB folk and their families: no one had ever bothered to read it.
My parents were of course, desperately worried, but were told, sneeringly, by a nurse that “no one ever dies of a skin disease”. Twenty-three dead friends later, I strongly disagree with her.
Two days later, I was transferred to Great Ormond Street Hospital for specialist care; it was a Sunday, but the consultant came from home to see me, the little baby with the inexplicably severe EB. In retrospect, it seems they didn’t have high hopes for my survival, later telling my mum and dad that they were amazed I made it past six months.
The consultant was at a loss for an explanation, too, and had never seen or heard of another baby like me. I was one for the medical journals and the laboratories. But that didn’t really matter then, as there was no hope for a cure or treatment anyway. What was important was dealing with my skin and me in the here and now, and so my parents were taught how to dress my wounds, how to bathe me, how to feed me, holding me on a foam pad covered in satin sheets.
My mum stayed at the hospital with me every night but one, when she went home to comfort my upset and bewildered three year old sister, and to sort out a pram for me. My dad came to the hospital every day, going home to my sister every night. To this day, we couldn’t cope without my grandparents, who have always gone above and beyond the call of duty.
Three weeks after my birth, I was allowed home for the first time, which is when the “fun” really began. I was born with difficulty in swallowing, often bringing back my milk, mixed with thick mucus and blood. Not to mention to pain of suckling with a blistered mouth! My parents would be up all night, pacing the floor with me to prevent any further weight loss (I was born chubby, but it wasn’t to last).
Though my sister once asked when I was “going back”, she used to keep me entertained, making me laugh until our mum thought I might have a fit, and put a stop to it. And when she was told that I was too sore to have a dummy, she wordlessly went and dropped hers in the bin, never touching another one. A story that still makes me feel tearful today.
District nurses were allocated to help us, but they were never happy about, claiming that, as I was a baby, the Health Visitor should be responsible for changing my dressings, something she hotly disputed. While one or two were nice, most saw me as far too time consuming, scolding my mum for not having everything ready before they arrived, despite the fact that she had been up all night with me, had a three year old to care for too, and was obviously pushed to her limit.
It didn’t take long for my mum to dispense with nurses, and to manage my care between her and my dad. I can’t say dealing with EB was easy for any of us; for my parents, it was difficult having to actively causing me pain during dressing changes, even though they had to do it for my benefit, it was painful for them not being able to feed and nourish me the way I needed to be; for my sister, I took up a huge amount of our parents’ time, which must have made her feel displaced; for me, as I got older I realised that my life wasn’t the same as my friends, and I began to resent the pain, the hospital treatments, and the unpredictability that EB threw at me.
But however many tears and tantrums there were (which never came from my sister, who accepted everything gracefully, even my frustrated wrath when directed at her), we always loved each other, and we never considered giving up. We found a balance between paying enough attention to EB that it stayed under some semblance of control, and not letting it take over our lives. Living with EB can be like living under the regime of a tyrant who has mood swings; you can live your life well, as long as you do what it asks, and you accept that it can impose its dominion over you at any time.
When I was six, we had a revelation regarding my genetics. The researchers had been baffled by my skin, and were determined to find out exactly what had happen to cause such a discrepancy between me and my dad (and his relations who have EB too). After coming to our house and taking biopsies from my parents, grandparents and uncle, they discovered the cause of the problem: my mum carries the gene for another type of EB, Recessive Dystrophic.
My parents’ genes had mixed in me, giving me my mum’s eyes, my dad’s hair, and both of their types of EB. A genetic gin and tonic, if you will. The upshot was that, had I only had my dad’s type, I would have been much less affected, but if they had both been carrying Recessive Dystrophic, I could have had it much worse.
It was a count your blessings moment, and I do to this day. It was later discovered that the gene my mum carries was a “spontaneous mutation” i.e. it didn’t exist in her until the second of my conception, at which point she developed it and I inherited it. The chances of all of those things happening together are minute, but I don’t feel unlucky. It’s just how I was meant to be, and I would never wish it on anyone else. It’s amazing that, being as fantastically complicated as they are, genes don’t carry mistakes more often.
Ecrit par Melissa Smith, et publié il y a plus de 4 ans.