Leah’s story really begins before she was even conceived. Harry was our first-born and four years later Rebbecca joined us. After a very unexpected yet unremarkable pregnancy, thirteen months later Lucy was born. She was a very quiet baby, never cried and at nine days old went very floppy and blue. After fighting very hard she died at 39 days old at Great Ormond Street Hospital. There was never a diagnosis just guesswork, they couldn’t tell us why this had happened. We moved house and eighteen months later Erin was born. I still felt incomplete. I know now I was trying to fill a hole that could never be filled. So thirteen months later Leah joined our family. The pregnancy had been unremarkable save the fact she was breech and had to be turned (OUCH!). When she was delivered however the labour room was nearly drowned in amniotic fluid there was so much, I’ve since been told by many a midwife that this is a sign of something being wrong! She was very unsettled from the word go, couldn’t cope with milk, her suck was almost non-existent and when she was awake, which wasn’t often she was crying pretty much all the time. Having lost a child you become hyper-aware of being labeled an hysterical parent by doctors, so I waited ‘til the three month check to calmly tell the health visitor that my child was not hitting milestones and I thought there was something wrong. Luckily she was on the ball and after doing those ‘tests’ she agreed with me and we were referred to the Child Development Centre at the local hospital.
The barrage of tests followed but it was fifteen months later(when we were ten weeks pregnant with, what turned out to Matthew!) when we were taken into a room by the consultant and were told that this little girl will not make it past two, if she does she will need a lot of help for the rest of her life, but they didn’t know what was causing her symptoms, which by this time were hypotonia, no mobility, dribbling excessively and sleeping up to nineteen hours a day. A neurologist at oxford saw her MRI and decided ‘there was no underlying condition’ causing theses symptoms! I did what I do and got researching, found this awful condition called Leighs Disease and just knew this is what we were dealing with. Leah had had a muscle biopsy, the samples had been sent to Oxford and Newcastle for analysis. The muscle biopsy came back with deficiencies in Complex 1 and Complex 1V in the respiratory chain system and because Leah did not seem to be progressing another MRI was done. This showed the typical brain pattern of a person with Leighs. So there we were, that’s what it was and the doctors were of the opinion that it must have been what Lucy had too.
We tried Leah at a normal pre-school but it became apparent, even with her walker that it wasn’t the right environment. She started at the local special school and started flying! She was doing really well, odd issues came and went, then one Monday she went to school, by lunch I had a call to say she was unwell, I got there twenty minutes later to find her ‘sleeping’. I took her home and put her to bed, she had no temperature but two days later when she hadn’t really roused, we called an ambulance. She was in a coma! A week later, after we had been told by doctors to prepare for the worst (a week in which they had not been feeding her!), she woke up! Our little miracle.! She had lost all her skills, she was back in nappies, she couldn’t lift her arms, hold her head up but she could smile!!!! Her swallow was goneShe had to have a gastrostomy urgently and underwent the procedure on December 23rd and was home on Christmas Eve!
We’ve had another couple of these episodes (as we call them now), but she’s been really good for the last three years.
So, a couple of months ago, our consultant at GOSH tells me that Leah has been reclassified. She has sequenced Leah’s whole genome and has found a mutation on the gene that codes for Pyruvate Dehydrogenase and that she is now classified as having Leighs Disease with Pyruvate dehydrogenase deficiency. Also as it’s a mutation and neither I nor Ian (Leah’s Dad, should give him a mention, lol) have the mutation it is a spontaneous mutation and what happened to Lucy must have been ‘bad luck’, it happens!.
So here we are, the ketogenic diet on the horizon, (we start in May), a new but old diagnosis, with our wonderful Leah starting on a new but old journey, wondering what life will throw at us next. Her brothers and sisters are amazing and give or take a few wobbles take the rough with the smooth. It isn’t an easy journey, and unlike some parents I would change it if I could, but only so we could be as certain as anyone ever is, that Leah will live a long and happy life, as unfortunately this awful disease has taken that from us. Sorry this is so long and rambling but it’s fifteen years compressed!