{this blog is written by G’s mom}
Hello! I understand that your child has been diagnosed with CDKL5 Deficiency Disorder. Even though we don’t know each other, you and I now share a special thing in common. We are both parents to CDKL5 Warriors.
My son, G, was diagnosed with CDKL5 Deficiency Disorder (CDD) at six-months-old. He had been having seizures since four-weeks-old and was not meeting any developmental milestones. When I first got his diagnosis, I think I was in shock. I remember writing down the letters that the neurologist was saying over the phone: C - D - K - L - 5. I had never heard anything like it before. The neurologist said only a few things about it on that call, but honestly, it’s all kind of a blur. Perhaps you are in kind of a blur reading this right now. I understand.
If you’re anything like me, you desperately want to know what this diagnosis means for your child’s future and what to do about their seizures. I’m so sorry to tell you that no one can give you those answers. There is no epilepsy treatment that works for all kids with CDD...yet. And there is no current way to predict a child’s developmental outcomes based on their genetic information. Even though you may want to, you really cannot compare your child to anyone else. Each child with CDKL5 is on their own unique journey and no two children present exactly the same. A wise person in our Facebook support group once said that at the end of the day this diagnosis changes everything and nothing about your child.
But what you have now is a community to lean on.
And while it is hard to get a handle on everything that a CDD diagnosis brings, I promise you that you will get a handle on it. Those first months after diagnosis were unbelievably hard for me. I think in this journey so far, even though we have been through really challenging times, those early days still stand out as the hardest. There was lots of crying, heartache, and deep sadness.
And while I still sometimes feel sad, I am pleased to say that those deep, painful emotions that I experienced in the beginning have mostly gone, and I am better able to ebb and flow with all that a CDKL5 life brings.
As time goes on, I continually aim to make peace with my previous expectations and embrace the life that we have. After all, expectations are not reality. What is real is this child who is looking to me to love him unconditionally and support him in any way that he needs. My son is well loved and many children in this world cannot say the same. I truly feel that, no matter what happens, we will be just fine.
Aside from adjusting my expectations, the three things that have really helped me have been:
Letting go of “If Only…” Before we got his CDKL5 diagnosis, I would obsess that “if only” we could get the seizures to stop, or, “if only” I did more therapies with him that my son would reach milestones. When we learned he had CDD, I released a lot of that pressure. No matter how much therapy we do or what we try, my son is going to achieve what he is able and not more. Don’t get me wrong, therapy is extremely important, but we do as much as feels good to us and don't feel pressured to do more.
Holding onto hope for future treatments. Even if treatments are far away and even if they don’t come to fruition in time for my son, I love to have hope that one day there will be a treatment or cure for him. CDKL5 Deficiency Disorder is considered a rare disease, and the majority of rare diseases have no scientists working on them - but we do!!
Getting involved. Research into CDKL5 happens only as quickly as our community invests in it. There are many ways to get involved to support our cause such as participating in clinical trials, fundraising, and enrolling in "Connect CDKL5" and the International CDKL5 Disorder Database. Actively participating has given me a feeling of control in an otherwise out of control situation. I linked more information below if you are interested.
As my son ages, I feel so much more competent in this life than I did when he was a baby. I’ve learned that there are seasons with CDKL5. Some are dark and hard and desperate and some are light and fun and free. I try to appreciate and take advantage of the good times because I know they will give me strength in the hard times. I hope that you will find support within our CDKL5 community and in your own life. Reach out and ask for help. Take it one day at a time. And cover your child with lots of love because that is what they need above all else. We are all in this together and you are not alone. Welcome to our group.
Sincerely,
Marissa (Mom to G)
Email me: ArtForHopeLoveCure@yahoo.com
PS: Here is a blog post I did on products that I found helpful, especially when my son was younger. Please check it out: https://artforhopelovecure.wixsite.com/cdkl5/post/products-i-love
Those first few months I soaked up as much information about CDKL5 as I could. Here are some links that I found helpful:
https://www.cdkl5.com/cdkl5-resource-library/ (Clinical Care Guide)
https://rett.telethonkids.org.au/about/cdkl5-disorder/ (they have a widget tool to explore CDKL5 symptoms from the database!)
There is real hope that the future can bring treatments and, hopefully, a cure for this disorder, but the truth is we need participation from our CDKL5 community to advance research. CDKL5 families need to be active participants in the process. Here are some ways to help your child and mine (including how to submit your child’s information into the registries): https://www.cdkl5.com/help-our-researchers/
Of course it is up to you if you are interested in fundraising for research and where you will send your funds. Personally, I fundraise for the International Foundation for CDKL5 Research (IFCR) (https://www.cdkl5.com). There are many ways to fundraise and it really doesn’t have to be hard. We have hosted luncheons, sold G’s artwork, done Facebook fundraisers (so easy!), participated in #GivingTuesday, and every year in June we host a virtual 5K event for CDKL5 Awareness Month.** We have seen people host large galas, legitimate 5K races, and other large events and we see many, many small ideas that total up to a big impact. This past June someone sold pinwheels and it was a great fundraiser! No effort is too small! Fundraising for CDKL5 research has given me the ability to feel like I am actively contributing to the efforts that will truly help my son. And I have been blown away by the generosity of friends and family. My husband’s company also matches donations - maybe yours does too!
Here are some of our fundraiser pages - please follow, like, and share!
Art For Hope/Love/Cure https://artforhopelovecure.wixsite.com/cdkl5 and on Facebook and Instagram @ArtForHopeLoveCure
Support For Starfish Virtual 5K (you can join this effort by walking with your friends and family in your town - ask me how!) on Facebook @SupportForStarfishVirtual5K
And if you’re like me, the “search” feature in the private Facebook group will be your friend!
Email me any time!
**Our Support for Starfish Virtual 5K now participates in the IFCR's annual fundraising event Move CDKL5 Forward! Join us in June!
Hope | Love | Cure CDKL5