As promised here is a bio about Abbey. My beautiful Abigail. My reason for writing this is twofold: One to bring attention to the disorder, CDKL5, and two, to show mums and dads, that even though the worst can happen, it is possible to keep going.
Like me, Abbeys early life was really boring. Born perfect, nursed easily and was a beautiful bub. Still is of course. At 6 months I noticed some strange startle reflexes. They lasted a few seconds, but I thought they were a developmental milestone. We also thought it was due to her vision, as she had a strabismus in both eyes. Maybe she was startled when she saw how gorgeous her parents are?!!
The startles didn’t get worse, they just happened momentarily and infrequent.We didn’t think anything further about it, but in Feb 2006, it literally all fell apart. We were in Manly, Sydney for a conference. The conference was a big opportunity for me, I was close to finishing the PhD. I was National Secretary of the Economics Society and I was presenting. It was so close, the end. Jobs, travel, ooooh.
On the second day after arrival, and after changing hotel rooms as they were so disgusting and the Society meeting, it all started. James had taken Abbey to visit her great grandmother, and she had been perfect all day. At 4pm I nursed Abbey, and half way through she did the strange startle movement, but it didn’t end. Then she stopped moving and was ‘asleep’. I called for James. I tried nursing her again, she woke up. She did the startle movement again and stopped moving and went floppy. From here I don’t know what happened, her Daddy took over. We called an ambulance, but were told to get a taxi as it would take too long. We went to the emergency department where Abbey had more seizures. The doctors did not know.
We were transferred to Maida Vale Hospital where we spent four long days. I spent the entire time with Abbey. I remember we had a fantastic view from our hospital room. James sorted stuff out, money to hire a car, medicines, clothing for us and changing hotel venues. He was tranferred to a 4 star room with duck feather pillows and king size beds. This was the most luxury we had every experienced and I slept on a reclining couch in the hospital. Abbey was drugged, alot, to stop seizures. The doctor was trying to get us on a plane home for Saturday. We needed to get home.
Friday came, we were released from the hospital for the night in our luxurious apartment. We were a family for a night. We didn’t know what was coming. It had all changed, but didnt know how. We were told we could not travel if she had another seizure. She did on the way to the plane on Saturday and we didnt tell anyone. We knew she would have lots more and we had to get home. We dressed her in a beautiful dress I had bought for her a while ago.
We arrived home, and the same day we were back in hospital for 3 weeks. We were told to be ready to say goodbye to Abbey. Up to now, nothing has abated the seizures. Nothing will.
Abbey will turn 10 this year. The average lifespan of a child with CDKL5 is 10 years. Its a very big year for Abbey and us, her parents. In the circle of parents who have children with this condition, our motto is F**K CDKL5. And with good reason. Its a horrible condition for anyone to endure. But the light we have everyday is the amazing beauty and smiles and cuddles our children can give us. And we only want to give back.
At present there are about 600 children in the world with this condition. There is little to no research on how to improve the children’s lives. Abbey has trialed at least 17 medications, plus some obscure stuff. The condition is not only seizures, its cerebral palsy, allergies, gut issues, early onset puberty, vision impairment and range of other conditions. Its all due to one little protein that is not developed to ensure the rest of the body does the right thing. One tiny little protein. Its disheartening
Where to now? We dont know. Most children have passed by now, so thanks to modern medicine we have our Abbey for longer. Abbey is one of the first to be officially diagnosed with CDKL5. We know there is no solution for Abbey during her lifetime. So we help by trialing different therapies, answering surveys and talking to other parents whose child has been diagnosed with the same condition.
Further on from that we live by the motto “Fun and dignity”. Fun for our family, for Abbey and us. Dignity for our family, our Abbey and ourselves. These are our biggest challenges. Its hard to keep your dignity when the services, access or products are not available. Its hard to have fun when access or assistance is not available. So these are our passion, our reason for doing.
James and I are now on the other side of a diagnoses of special needs. We accept now. We have grieved, changed our lives and our expectations of our future. Our next journey is the loss of a child. We cannot prepare for this, but I know there is support available as we move closer. And I hope we can be a source of support for other parents.
Abbey has taught us that life is precious and that the small things are most important. I know its a cliche. The cuddle, the kiss and the smile spreads so much more warmth and love than stuff. Things have helped us spread the warmth and love easier.