Some good news...

I don’t often post personal updates here because as a satirical site, it really wouldn’t make sense. However, many of you are aware my baby is sick and regularly ask how he is. Usually, I’m reluctant to give updates because there isn’t much to say, but yesterday we finally received some good news.

By god, we needed some good news…

To recap, Ezra was taken into hospital in January at five months old, having previously experienced seizures. He was in a non-stop sequence of spasms and the doctors did not know what was wrong. He did not respond to medications and the weight rapidly fell off him. He looked like a skeleton.

Things were so bad, we did not know if Ezra would make it out. After six weeks of agony, we finally got a genetic diagnosis and managed to stabilise him.

It turns out Ezra has an extremely rare form of epilepsy caused by a mutation of the KCNQ2 gene. A Google search of the diagnosis was the stuff of nightmares - 50% mortality rate before the age of two and profound impairments for most who survive.

However, we are not really talking about a typical illness here, we are talking about a genetic malfunction of potassium channels that can manifest in many different ways and as such is individual to the child. This means it is unpredictable.

The condition is notoriously difficult to treat, but we were able to keep Ezra stable with generalised epilepsy meds. Problem is there is no targeted treatment and the meds didn’t make the symptoms go away, they only stopped them getting out of control.

Ezra was experiencing severe developmental delays - something that is universal with the condition. We later discovered that Ezra does not have one of the more lethal variants, but one of the most complex and difficult to treat.

In terms of impairments, it is among the worst, but Ezra being Ezra, he is somehow bucking the trend. Although he can’t hold his head up and still has to feed through a tube, he is slowly but surely developing motor skills, babbling like a regular baby, and sometimes focusing his eyes.

This is a big deal because kids with Ezra’s condition often never do these things, and if they do, they can be three or four before they reach that stage of development.

With Ezra’s variant, you can typically expect either non-verbal autism or very limited speech and social skills and a strong likelihood of being wheelchair bound. However, there are exceptions to the rule.

A small number of kids, for whatever reason, go on to develop normally or with only minimal impairments. One of the key factors here is the background electrical activity in the brain.

Ezra’s condition is metabolic and neurological, and results in constant high voltage activity in the brain. This causes disorientation and uncontrolled movements, particularly with the eyes which will often dart around aimlessly.

While the neuronal excitability sometimes clears up in kids with certain variants, Ezra’s variant made that highly unlikely. Most who experience such progress have either been treated with Amiptrytpline or vitamin B6, neither of which we’ve tried with Ezra yet. This is because data on their effectiveness is limited due to small sample sizes.

Miraculously, Ezra’s latest EEG result has shown significant improvement in the background activity and tests have shown good signs with his eyes. In short, he is doing better than we would expect for someone with his variant. Even better, the above treatments tend to work better on kids who are less severely affected. This means there is real hope of targeted treatments that will help Ezra improve further. I hope to persuade the doctors to give them a try because they can currently be prescribed in the UK.

While Ezra still has a mountain to climb, he seems to be on as good a path as we could realistically hope for. If nothing else, it appears we have bought him time for better treatments or a cure to emerge (a cure is likely to come in the form of gene therapy, and given we can cure this condition in animals, it would seem a matter of time).

I’ve spent a lot of time writing recently, and to be honest, I feel mentally and emotionally drained so I’m sure you won’t mind if I spend a few days off with my baby. I think we’ve earned it, don’t you?

Thank you all for your love and support, it is greatly appreciated x