So we have a diagnosis. As had been suspected by Zoë’s doctors she has a rare genetic mutation which affects approx 1000 people worldwide. She has CDKL5. The diagnosis has brought us mixed feelings.
It’s so good to have identified what it is, and in a relatively timely manner. We now have a community of people with kids that have the same condition and have joined Facebook groups, international databases and research studies for CDKL5. It’s good to know that so many of the things I feared may have caused Zoë’s condition were not actually the cause. She was born this way- it wasn’t the traumatic birth, it wasn’t that bite of medium steak when I was pregnant, it wasn’t the babysitter shaking her or worse, it wasn’t the time we went off road on a bumpy dirt track, I didn’t roll over her in my sleep- and a hundred other scenarios. We are now doing more tests to determine whether either Simon or myself are carriers, or whether this was just a sporadic genetic mutation (de novo). I have just ordered “Genetics for Dummies” to help me understand all of this a bit better. It turns out that all the time I spent figuring out what colour hair and eyes my babies would have with different potential boyfriends when I was studying Leaving Certificate Biology has not given me a great insight into the world of genetics, who would have thought! I was actually finished university by the time the CDKL5 gene was identified in 2004. The field of genetics is fascinating but very complex, at the moment I feel very out of my depth reading genetics research – but I can learn.
The prognosis for kids with CDKL5 was the hard part to read. They are usually non-verbal, confined to wheelchairs and have multiple medical issues. We have watched the videos, we have read the blogs, we have read the research papers, joined the Facebook groups and a lot of the stories and information is far from how we envisaged Zoë’s progression. There does, however, seem to be some hope for Zoë in that she is currently seizure free, and that seems to lead to better outcomes.
There is research currently being done which has shown some promising results in mice, but this is many years and millions of dollars away from being ready for human use. Simon and I feel motivated to help find a treatment/cure for this condition, obviously we don’t have the knowledge or finances to do this by ourselves. Luckily there is already a group of similarly motivated parents who we will be joining forces with to figure out what we can do. We are going to educate ourselves, we will start fundraising to pay for research, we will investigate potential therapies, we will speak to bureaucrats and politicians, we will do everything we can to insure that Zoë has the best quality of life she can and we will fight any person or system that treats Zoë without the respect she deserves. On that note, we find ourselves once again at a bit of a crossroads, Ireland it appears may not be the best option at present as services are more limited and at such a crucial point of Zoë’s development, maybe it’s too much of a risk to take. We are currently awaiting responses from a few organisations before we make our final decision.
So there you have it. We now have a cause to champion, a disease to help cure. Zoë may never benefit from the research currently being done, or she may to some degree. This is bigger than us, it is bigger than Zoë, imagine if in 10-20 years there is some simple gene therapy and a little girl who was never going to have to ability to walk or talk or feed independently can do all of those things and so much more. Just imagine….