CDKL5 Australia

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From a parent in our community

A message from another CDD parent

Originally written:

Adeline and family at the beach in Broome, Western Australia

A message from a CDKL5 deficiency disorder (CDD) mother.

My name is Anna, mother to Adeline (born in 2020, diagnosed in 2021). We are based in Perth, Western Australia.

Welcome to the club that I am sure you never wanted an invite to. With a diagnosis of CDD, you now have some answers and certainty; albeit I’m sure it is not the news you hoped for. I’m sorry for everything you have been through leading up to this moment. I trust it has been immensely difficult.

I know your mind must be racing, and your heart heavy processing this news. There is no denying that this is one of the more severe of the rare genetic disorders you can have, and with this diagnosis, comes a heavy burden.

The first few months and years post diagnosis are extremely emotionally hard and can take a toll on your family. Unfortunately, there is no way around grief but only, through it. But we are with you.

Almost 2 years into our daughter’s diagnosis, I am happy to report that it has become easier. Not only do you learn to accept the diagnosis, but you learn to shift the goal posts and let go of the expectations of what you felt “should” have been. There are ways to make adjustments to the way you live to still have happiness and fulfilment in your family. This diagnosis will teach you more than you ever thought possible and will show you an internal strength you didn’t know you had.

Although our children are extremely unlucky, they are also very fortunate in many ways. Firstly to be in Australia and New Zealand. Our medical system is incredible and our disability support plentiful. I encourage you to tap into all the resources available to you.

Secondly, we are well supported. I am sure you have many questions and a good place to go is our International CDKL5 Facebook support group for parents which is a very active and supportive group where you can get more information about what it is like to live with this disorder. It can be very overwhelming at first; to see what the years ahead may have in store for you. However, once you have processed that, it is very helpful.

Thirdly, the other benefit of this particular diagnosis, is that there is extensive research happening all around the world looking for a cure. Despite being rare, there are about 10 different scientific studies happening in various countries looking at different ways we may be able to cure our children. One of the leaders in this research just announced in November 2022 that they are getting ready for human trials for gene therapy. This is an extremely exciting time in our community and fills us with hope, as we have seen gene therapy achieve amazing outcomes with some other conditions. If this is something you choose for your child, our children will likely always have their challenges, but it may at least make it easier for our children to develop new skills and perhaps get seizure control. But only time will tell.

As cruel as this disorder is, I’ve also seen it bring so much goodness into this world. I’ve seen it teach whole new levels of gratitude, presence, dedication, generosity, compassion, kindness and advocacy. Although it may not feel like it right now, it is possible to still live a happy life.

We also have a WhatsApp group for Australian and New Zealand families where we share information as it becomes available. As you can imagine there are numerous families all over the world and sometimes suggestions made in the main support group aren’t relevant to us here down under. So you are encouraged to join.

Our CDD Aus/NZ Alliance is headed by Melissa and myself.

We are with you, we are walking beside you, and although we wish you weren’t here with us, we are still here.

Sending strength,

Anna