1. He should be getting yearly EKG's
2. He should be getting a yearly clinical spine evaluation - Tanner's physical therapist says he looks like he's getting scoliosis, which is common for CDKL5 kids. Not great news and not much we can do about it but make sure he's in good positions as often as we can. His low tone (lack of muscle) is what is causing this.
3. He should be getting 24-hr EEG's and sleep studies every 6 months.
The above 3 things are 3 of 8 things they said is critical in standards of care for a CDKL5 kid. This is excellent fuel we will need to go to our local neurologist and communicate our NEEDS.
We learned that some of the AMAZING work the foundation is doing includes giving a mouse model an inhibitor that restored memory performance. The mouse showed long term impact on neurological survival, maturation and cognitive function...even after meds were taken away. Read this paragraph again and try to understand just how amazing this could be for our CDKL5 kids! Development!
We learned that flying to one of the 3 CDKL5 "Centers of Excellence" is a great way to help the foundation out with research, especially since CDKL5 is more rare in male's and we have one.
We learned that Tanner's specific genetic report showed that his mutation is on exon 6 of the CDKL5 protein. Basically, Tanner has the entire protein he needs. Exons 1-5 are functioning just fine. Exon 7 and beyond are functioning just fine. But just on exon 6 of the protein, he has an amino acid change. He should have "Cysteine" and instead, he has "Phenylalanine". That 1 amino acid change is what is causing ALL of this for Tanner. This was new information for us and effected us greatly. How could such a small thing effect SO much? But it does.
We listened to mom of Harper Howard, a CDKL5 angel in heaven, talk about the day her little girl lost her battle and the decision they made to donate her brain to science. This is not something I will write about or explain because it's not my story to tell, but as hard as it is to imagine, Bio banking is something Brian and I need to discuss, "just in case". My dad has had many conversations with me about everything he has planned out in preparation for the day he passes, as I'm sure a lot of parents in their 70's and beyond have done. They do not want their children to have to figure it out while dealing with the loss of a parent. As hard as it is to discuss those details with my dad, I think it is somewhat "normal". Have you ever planned for the death of your child? Is that too harsh of a question for you to read and think about? I'm sure it is. Now you're on your way to thinking like a parent of a CDKL5 child. It is not fun, it is not easy, we remain positive, yet we also need to consider the "what if".
Over the past few months, Tanner's seizures have changed. He is still having clusters of spasms, yet not nearly as many as in the past. But he is now also having Tonics, Clonics and an occasional Tonic Clonic (grand mal). That's 3 additional types of seizures! Due to the change we made of his oil, his personality is back and he has so much life back in him, which is great, but the seizures are affecting everything! he can no longer roll. his body is getting very tight, making movements harder. His head control is not getting better, all-though he seems to be doing great with this recently! The Tonic seizures cause Tanner to throw up and not knowing what specifically was happening, we made him an appointment for another swallow study. At the convention, we learned what the signs are for aspiration, yet Tanner wasn't doing any of those things! Unfortunately, the results came back that he is aspirating. The reason there are no signs is because he's a silent aspirator, making it that much harder to detect. He only aspirates liquids, not food, so we now buy stuff to thicken all his liquids and we pray it will work. If not, maybe he will need some sort of feeding tube but we will deal with that when and if it comes. Until then, we will continue to deal with the punches. Sometimes it feels like we take 1 step forward and 2 steps back. But we took 1 step forward right? Our son now appears to be happy! He has smiled more in the past 2 weeks than he has in his whole life. He kicks and swims in the water and "talks" up a storm. So we will do what we've always done, celebrate the inch stones, fight for a cure, lean on each other and go on with life, because we love our Tanner! Please buy a ticket to our fundraiser, Toasting Tanner. Your donation WILL make a difference, you will learn more about Tanner and his CDKL5 brothers and sisters and we will have a great time partying together because fighting for a cause is a positive and happy thing to celebrate! Go to the "Events" page on this website to donate or purchase your ticket today!