Have you ever wondered what it looks like to watch a child seize? Do you know that there are a ton of different types of seizures out there and they all look different? Those of you who know us or know Tanner but have never seen him have a seizure, have you ever wondered what it would be like to watch it happen throughout the day? and how often in a day? Are these even things you could realistically picture? What if it were your child? I have posted short videos below. Each video shows Tanner having a seizure. ALL DIFFERENT KINDS! Tanner has had, in his short 2 years of life, all of the following seizures: Myoclonics, spasms, cluster of spasms, clonic, tonic, partial, tonic clonic, absent and even what we call "seizure smiles". Watch the videos below and imagine it was your child. What would you do to help? None of us can control these or wave a magic wand to make them go away. Brian and I are doing everything in our power to make the right choices to help Tanner, but that's not enough. What if I told you there was a medicine out there that has been proven, in mouse models, to restore memory performance. Another words, gave tanner the ability to roll again since he has regressed and forgotten how. What if it proved to have long term impact on neurological survival and cognitive function? What if Tanner was able to take a medicine that helped him develop! Would you help us get that medicine? If your child were the ones in the video, does this sound like something you'd work hard at getting? That is 1 example of what the money donated to the IFCR (International Foundation for CDKL5 Research) is going towards. YOU CAN HELP! Come to our event Toasting Tanner on August 27th and celebrate the fact that these CDKL5 children are gifts from God. They are more special than we are. Tanner is still here and thriving and as happy as he can be and we want to celebrate him! Donate, using this link www.TannersJourney.com/events and your money WILL HELP! I can't continue to watch Tanner have these types of seizures and more, EVERY, SINGLE, DAY. Help us and give back to a worthy cause that doesn't get the recognition it needs, like other diseases and disorders do. Do not forget about the rare. Do not forget about the unique. Do not forget about Tanner.
Last month, Brian and I flew to Chicago and attended the CDKL5 and Rett Syndrome convention. It is held every 2 years and this year, it also included MECP2 and FOXG1, which are also rare genetic mutations. We really didn't know what to expect, so going there, all we were really excited for was to meet, face-to-face, other families who we were already calling our friends, yet we had only met them virtually. We joined an online support group for other CDKL5 families when we received Tanner's diagnosis and so much of what we learn is from them and not doctors! Meeting these parents and some children in person was so wonderful that words can't express how we truly felt spending an entire weekend with people who just "got it". We could talk about Tanner and not have to explain what he has. As much as we enjoy spreading awareness, it was just nice to get a break. So from that standpoint, the weekend was amazing, but it ended up being so much more. We learned things from doctors and specialists and the IFCR board members that will help us in our current and future care for Tanner. Some things we learned:
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!
Being a mom to a special needs child has more ups and downs than you could ever imagine. As if it weren't upsetting enough that Tanner has been seizing, uncontrollable, every day for almost 2 years now, his EEG a few weeks ago showed that the type of seizure he's having are spasms and the brain activity is hypsarythmia. Hyps is what he had over a year ago and is very common in CDKL5 kids, but it is very destructive. It creates permanent and irreversible developmental damage. Most children are put on steroids to try and knock it out as quickly as possible, and then put on an anti-seizure med to try and keep the Hyps away. We did this and the steroid did work, but there's always a possibility it will come back and it did in Tanner. When I received this news, I took a day or two to cry it out and was extremely depressed and saddened at what the future may now hold for my sweet boy. I will never give up fighting for him but sometimes you just feel completely helpless and for a split second...hopeless. As a mom, that feeling is one of the worst you could feel.
I turned to the CDKL5 support group we are a part of on facebook and expressed my feelings. I was partially venting and partially asking for any and all help/advise on where to go from here. What I got in return were phone calls, emails and responses in not just support from people who really did understand me, but HOPE. I heard real life stories from parents stating their child is older than mine and HAS progressed and also still has spasms and hyps. No matter how small the progression was, progress is progress!
We still have options. We have a lot of options actually! So once again, with thanks to my CDKL5 family, hope prevailed. I guess I'm allowed to ride on the roller coaster of life, thru this journey, because I can't control it sometimes, but something truly amazing happened this weekend. I found my hope. Brian and I discussed our options, we made some medicinal changes and just like that, a glimpse of our happy boy appeared. It's so hard to answer the question of "How is Tanner doing". I wouldn't say that he's any better or any worse than he has been over the past month, but you can't tell me that progression is not possible when this kid who used to roll all over the place, suddenly came to a stop due to the amount of seizures, but has been picking it back up, just like that. He "speaks" to the sun every time he sees it. And he's been "talking" to us so much that his throat has got to hurt! We walked in our upsee and tonight he spent at least 20 minutes rolling back and forth and back and forth, like in the video below. We love our baby boy so much and will NEVER give up hope. Where there's hope, there IS a cure.
For those that are familiar with the upsee, we realized Tanner's foot was coming out of the shoe and fixed it :)
It's been awhile since I have updated everyone on Tanner and a lot has changed, but things seem to change with him day to day! In November of 2015, Tanner began taking a CBD oil called Epidiolex. This oil was given to us via a trial being run by the FDA. I'm not 100% educated on all there is to know about CBD oils, but I know enough now to share with you that there are many different kinds. With Tanner, we cannot assume anything is for sure going to work, because with his disorder, each child is different and effected by medications so differently. I was told there were many cases of kids who did not improve while on Epidiolex, but a few who did, and a few was all I needed! Epidiolex is the CBD oil the FDA is trying to legalize and probably the only oil it will ever considering legalizing (unfortunately), because it has no THC in it. THC is also part of the plant and in a lot of seizure patients, the entire plant is needed in order to help! Nonetheless, we had to give it a try. For the first couple of months, we saw no change at all. We were then given the approval to start lowering some of his Pharm. meds, and when we did that, we noticed mild improvements to Tanner's personality and seizures. We were only halfway to max dose, but the trial stated we had to wait another 2 months minimum before we could increase him again. Since we weren't seeing any significant improvements, this was somewhat unacceptable. Tanner was having around 350 spasms a day at this point and an occasional partial seizure too. You can understand that waiting and watching this for another 2 months was simply too hard to bare. So the doctor agreed to let us lower his other Pharm. med. At that time, Tanner began having significant increased seizures. Partials, tonic clonics and anywhere from 650 to 850 spasms A DAY! a couple days his count was over 1000! Tanner was no longer rolling. He was no longer talking/babbling, like he used to do all the time. He was limp and seemed very unhappy. The amount of seizures he was having was taking him away from us. We gave him the Pharm. Med back, but clearly the oil was doing no good for it to be this bad, so we began to wean the oil.
On March 10th, we began giving him a new oil called Palmetto Harmony. It does have THC in it, but only .3% which is considered legal in all 50 states. We will be on our own in terms of researching and purchasing CBD oil now, but luckily, we have the support of Tanner's neurologist to still monitor him and check blood levels. One of the medicines Tanner is on has very serious side effects of liver failure, and both medicines he's on are proven to react poorly with CBD oil. Tanner's levels have never been abnormal, but it's extremely important to keep it monitored. Since giving Tanner the new oil, we have again seen mild improvements, but feel like we are back at baseline now and definitely have our fun-loving, happy boy back! He is back to having 250-350 spasms a day, which is NOT good and we pray that the longer he's on this oil, the better it will get. But 350 is better than 850! He has started to gradually roll again, on his own and I have not seen the other seizure types he was having before, but in typical Tanner fashion, he tends to show improvements for a few days and then goes back. I'm not trying to be negative and in fact, we remain extremely positive and hopeful, but I know it can be confusing in trying to learn about Tanner's disability and how it is for him day to day and understand that for him, nothing is guaranteed. He has been seizing now for 19 months...every day...NO breaks. A lot of parents talk about their children having a honeymoon phase from seizures. Our CDKL5 kids will more than likely never be seizure free, but they can be minimal and controlled and if they are seizure free, we call it a honeymoon phase, until they come back. The honeymoon phase could last days, weeks, months or even years. But Tanner has yet to have one. As I type this blog right now, his nanny is texting me that he's upstairs having one of his other seizure types, for the first time since starting the new oil. Again, nothing is guaranteed.
I will conclude with this...Tanner's only been on the new oil for 7 days. Please pray with us that things continue to improve with his seizures as more time goes on, but watch the video below and smile because at least or boy appears to be happy again, which may be all we can ask for.
Every mom worries about their children and whether they are making the right decisions, when it comes to just about everything! When I was pregnant with Tanner, I remember interviewing daycare centers with Brian and finding 2 that we liked, but 1 a little bit more. As we left to go home, I sat in the car and cried. Nothing bad had happened and both schools would have been excellent choices. But what if 1 of the teachers at the school we chose didn't like Tanner? What if he wasn't happy? What if it wasn't as clean as we thought it was? What if we make the wrong choice? If you are not a parent, this may seem very silly to you, but to me, I was about to drop my baby off in the arms of total strangers, having no idea if he would cry a lot or be happy or anything, because he's a baby who can't talk and tell me anything. I'm guessing a similar feeling came over most moms. Now imagine your newborn is now 2 years old and special needs, still non-verbal, and probably always will be. When he cries, is he in pain, does his stomach hurt, is he constipated, is he about to seize, does his head hurt, is he hungry, is he tired, did i accidentally pinch him when picking him up, does something itch.... He can't use his hands to point and completely non-verbal! Is this cry CDKL5 related or typical baby related? Am i thinking of every possibility?
Over the past 2 weeks, we have increased Tanner's dose of CBD oil and decreased one of his pharmaceutical medicines by 2 doses. Since doing that, he has not had any tonic clonics, is smiling periodically and seems to have a little personality coming out. All of that sounds like amazing news to me and that we are headed in the right direction! BUT, he is still having clusters of spasms, in very high numbers and they seem to be a bit more severe than before, which makes me think Infantile Spasms, vs. just myoclonic jerks. (The cluster he just had today was his highest. 201 jerks/spasms/seizures, in just 1 cluster). We chose Depakote as the medicine to put him on months ago because he was having spasms, and all other medicines had not worked. This was the next best one. His eyes continue to dart back and forth, very quickly, but less frequently than before. I thought these were seizures before but now am wondering if it's Nystagmus. How do I know? Are the spasms getting worse because we are weaning? Is the smiling and personality getting better because we are weaning? Are the Tonic Clonics gone because we are weaning or because the oil is working? Am I making the wrong decision in weaning his medicines? Or is all of this just a coincidence? These are the questions that run thru my head every second of every day. I'm not writing this blog because I'm expecting people to comment with "you are doing a great job", "you are a great mom". I appreciate ALL of those comments, but the truth of the matter is that I'm doing the best I can. so If you are wondering if the oil is working, the answer is, I have no idea. Brian and I will make the best decisions we know how to make for Tanner today, and we may change our minds for tomorrow.
As we enter into 2016, we all have goals and hopes and dreams that we want and wish to accomplish right? I hope I surpass my budget at work so I can keep my job. I hope and will continue to try and lose weight. I will always hope and pray and strive to find a cure for CDKL5. But right now, day to day, thinking realistically, all I pray for is that Tanner is able to smile more, smile bigger, smile longer. That he continues to be able to show us more and more of his personality, but most of all, that he is able to live day to day with NO or very FEW seizures. I will leave you with a VERY positive note: Tanner had some amazing therapy sessions this week and for the first time ever, he was able to almost completely support himself in a crawling position. I still can't tell you if any of the decisions we are making are impacting his abilities, but he IS getting stronger and I am certain he is a happy and VERY loved boy. HOPE.LOVE.CURE. Happy New Year to All!
Tanner had a vision therapy session yesterday with a new therapist. She had been here once before, with his old therapist, just to meet us and get the "background" on who Tanner is and his environment and abilities, but this was his first session. I was not home and Brian came in a bit later. Our nanny was with Tanner. As some of you may or may not know, mouthing of hands is a common side effect for CDKL5 kids. The therapist proceeded to tell our nanny that the mouthing of the hands was simply a "bad habit" and "he knows better". After our nanny tried to explain that it was a side effect, not a bad habit, she then stated that "we needed to be the adults and stop letting him tell us what he wants. it's just a bad habit". When I heard this, I immediately contacted the therapist, provided her with a snap shot of side effects from the CDKL5 website, and told her that her comment was ignorant and until she educates herself on Tanner's disorder, she is no longer welcome in my home. The reason I am telling this story is because lately, things have been said to Brian and I that are simply inappropriate.
Brian and I do not feel burdened to talk about Tanner or answer questions concerning him. Just the opposite actually. One of our jobs as parents is to raise awareness for CDKL5, which is the purpose of this website too! But just like that therapist should have done her homework on Tanner, as she should do for each and every one of her patients, before treating them, our hope is that our family and friends and anyone who hears of Tanner's story, will go onlline and gather some information for themselves on what about 1200 children are suffering from today. Google is an amazing tool!
"What is the life expectancy for Tanner?" I'm hoping that as you just read that question, you gasped at the fact that someone would ask us that. But yes, multiple people have asked us that question! I want to be clear that I am not writing this in anger at all! The people who have asked it were trying to understand about Tanner and his disorder and they were sincere and concerned. But that does not take away from the fact that this question is inappropriate and hurtful to ask us. As Tanner's parents, it was one of the first questions we asked the foundation after his diagnosis, but the answer is unknown. Since then, we have tried to live every day with 1 thing in mind...how can I make Tanner happy today. Isn't that what we all want as parents, for our children to be happy? We are discussing putting an elevator in our home so we can better assist Tanner as he gets older and heavier. We just bought a van to help transport him better in the FUTURE. We are setting up savings accounts for him to one day make that van wheelchair accessible, if he doesn't learn to walk. We are NOT buying grave plots or even thinking like that, and all that question does is cause us to think about the answer. If you are curious about things like that, I understand your curiosity, but please go to www.cdkl5.com and educate yourself, so a question like that does not have to be posed to the parents of a beautiful baby boy who is ALIVE and as well as he can be.
On November 12, 2015, Tanner received his first dose of epidiolex, CBD oil. 3 weeks later we have seen a mild decrease in seizure activity but nothing to really speak about. Before the oil, he would have anywhere from 250-450 seizures a day in the form of clusters of Myoclonic jerks or Infantile spasms. We are still not clear exactly which ones. He would have an occassional tonic clonic, where his body shakes or his eyes dart back and forth very quickly and an occassional clonic, where only 1 side of his body shakes. Today, he is still having all of those, but seizures have decreased to 150-250 jerks a day. No decrease in the others. These are the "possibilities" we heard about before starting the trial, from other parents of CDKL5 children:
we could see improvements immediately
some kids get worse before better
it could take 30 days or longer to see results
we could see positive results in personality, but maybe not seizures
CBD oil works best on it's own, without other anti-seizure meds, and in small doses.
We will not be able to begin weaning Tanner off pharmaceutical meds for 90 days, so we are prepared for the chance that we may not see improvements for quite some time still. There is also the possibililty that Epidiolex will not work for him. If that is the case, there are other CBD oils out there with THC in them, which we have heard positive things about and our doctor said he would help us on our journey, even though we will be responsible for ordering and administering that oil all on our own.
The purpose of creating this blog site is so I can update our many many friends and family, on a daily or weekly basis. Also, as a way to communicate and educate about what life is for us, for Tanner and for about 1200 other children living with CDKL5, in the world. I have learned a LOT about being a special needs parent, in a very short amount of time and as I watch my son grow, I realize how hard it is sometimes to know what to say to us and how to support us. You may not get to know Tanner as well as some other kids because he won't communicate using words and he won't run around reaching for toys that are of interest to him. But I hope to be able to teach you, thru this blog, about who Tanner is. His likes and dislikes, abilities and inabilities and how you can help.