Ava Marie

Ava is a 9 month old little girl who started having seizures at 8 weeks old and was diagnosed with CDKL5 at 4 months old.
At the time Ava began having seizures we were very scared and confused. My entire pregnancy, her birth, and the first 2 months of her life were fairly uneventful.

She did have a little jaundice early on and some issues with breastfeeding but other than that she seemed like a healthy beautiful perfect little baby. She slept good through the night. I remember how afraid I was for her when her seizures started, but she was hospitalized and started on phenobarbital and Keppra which controlled the seizures completely for the time being. They did many blood test, lumbar puncture, video EEG, even nasal swab for viruses.

They did not find any cause for her seizures and they reassured us that she appeared to be developing normally. She was making good eye contact and had a social smile. The neurologist told us they would mail us a kit for genetic testing since there was no answers, although they told us many times no cause can be identified. About a month later Ava started to have bizarre episodes where she would stare off and her eyes would look funny. Then there were strange arm movements that would accompany these episodes.

The episodes would occur shortly after she would wake from sleep. I called her neurologist at the time who had us come in for another EEG. I was hoping Ava would have one of these episodes during the EEG and she did. Unfortunately she did but we were told this was not seizure activity and were told that they could possibly be something like a “shivering spell”.

I felt relieved but I knew deep down something was not right. We took Ava home and she continued to have these episodes. I was beside myself and didn’t know what to do at this point. I took her in to the paediatrician and told him what was going on and he did not seem worried and told us that it was possibly some kind of movement disorder.

Finally one night after she had four of these episodes in one day I got fed up and took her in to the ER. I came across something online about infantile spasms and I was afraid that was what she was having. Ava was hooked up to EEG for over 72 hours.
At first the neurologist told us that these were not seizures then he came the next day and told us that yes they were definitely seizures. I specifically asked him if this was infantile spasms and I was told no. The medications that they were giving her were not slowing the seizures down and he referred us to a bigger hospital two hours away.

It was there Ava was diagnosed with infantile spasms and we were devastated all over again. We treated her with high dose steroids which still did not stop the seizures and it was awful. She didn’t have the classic presentation of spasms, she would wake from sleep and have what we learned was a tonic seizure followed by spasms. We took Ava home on vigabatrin She was sleeping all day and waking, having a seizure and going back to sleep. As we increased the vigabatrin Ava did better.

Then the neurologist called to tell us that Ava’s genetic testing results were back. They gave us the results over the phone. They told us that Ava had a variant of the CDKL5 gene mutation and this was the cause of the infantile spasms. She did not give us any additional information about the disorder and told us she had a printout from the laboratory that we could come pick up. It was this handout that gave us some information about how devastating this diagnosis truly is.

She has a deletion non exon 9. The handout said children have mental retardation, developmental delay, limited use of hands, delayed or absent speech, and delayed gross motor development and often end up in a wheelchair. Devastated does not put it into words. I felt like I had a knife in my heart. I cried every day for at least a month. I did find two wonderful facebook groups of parents with children with the disorder. These support groups have really been my saving grace. At most Ava had 3-4 seizures per day.

Currently she has 0-2 per day depending on the day. She continues to have tonic seizures that occur when she wakes which are follower by random arm and leg movements. We are currently on ketogenic diet, Sabril, and Topamax. Ava continues to make progress and is currently working on learning to sit up. She also plays with toys and smiles with us.

Ava has not been diagnosed with cortical visual impairment but we have noticed that her eye contact is much better sometimes than others. She will sometimes go weeks or days making good eye contact and then its better for days or weeks. There appears to be no real rhyme or reason to this and it does not always correlate with seizure control.

We are lucky that Ava is a good eater and takes ketogenic formula from a bottle as well as purees. The difficult part is that the diet is expensive and time consuming and we are not completely convinced it is helping but we are not ready to give up on it at this point. Insurance did not cover the formula and our state funded supplemental insurance refused to cover it stating that she is under the age of 1 so it is an “inappropriate prescription”. The only cardiac issues we had was hypertension when she was on ACTH but that has resolved.

We have not had any pulmonary issues. Ava does do some hand wringing at times but she has been doing this less now that she has been grabbing toys more. Ava does appear to have some sensory issues. She seems to have a little oral sensitivity and seems visually over stimulated at times.

Ava was diagnosed with astigmatism and now wears glasses. We currently take to her to both physical and occupational therapies every week and we do feel like these are helping. We don’t really have any special equipment for her yet as she is still pretty young but PT did suggest getting her a compression vest to help with muscle tone. Ava can currently hold herself up in a sitting position but only for seconds at a time.

Since birth Ava had great eye contact and muscle tone it was only since the infantile spasms and subsequent treatment that she has lost some of that but she is getting stronger now all the time. Vigabatrin seems to take a tremendous toll on her muscle control and toe but it is one medication that we know has helped with the seizures so we are afraid to stop it. Ava loves her 5 year old brother and smiles at him all the time.

Her beautiful smile is what keeps us going through all the therapies, appointments, seizures, and worries about the future. What will the future hold for our beautiful Ava? It’s a question that I think about daily. We still don’t know what her abilities will be. What will her quality of life be like. We constantly worry if we are making the right decisions for her as far as therapies, medications, vaccines, the diet. We continue to move forward daily with trying to do our best for her and never giving up our fight for her and our hope for a cure.

Noa Luna

In 2008 my dream came true I became pregnant from a girl. After a quiet easy pregnancy of exactly 40 weeks Noa Luna was born. A beautiful baby, she was perfect. Normal weight, length, Apgar score 9-10. I gave her breast feeding, she drunk if she has always done this. She was very quiet relax baby. But after 2 months we saw strange movements.

After 3x visits to the doctor they send us to the hospital and the same day the doctors told us its epilepsy. This was a big shock to us. We are very positive people and were still on the pink cloud with our daughter and life went on.

After a couple of month the medicines didn’t work and we were send to another hospital in Amsterdam. Than at the age of 7 months we received the hard breaking news Noa has CDKL5.

She will never walk, talk and will stay like a baby. Our hearts were broken. Luckily we have each other, friends and family to support us but acceptance of this news will take a long time. Looking back I have the feeling that the first couple of years she only drink/eat, slept and was completely happy with just sitting on our lap.


When Noa became 2 years old she got a brother Quintin and later on another brother Kaj. Both brothers are normal healthy boys are doing great a school and love playing football. They love their big sister and taking care of her. As a family we go out a lot and during holiday period we travel and Noa is always coming with us.


When Noa was 14 months we transferred her from a normal daycare to a special day center for handicapped children. This was a big step in the acceptance. In the beginning you want to think she doesn’t belong her but deep in your heart you know she does. This day center is for +/-70 children with different syndroms but all with a mental IQ below 2 years. Noa can stay in this day center until she is 18 years old. She started with 3 days a week, and at the age of 5 it became 4 and after that 5 days. The days are normal school hours 8.30-15.00. At the day center she receives also physio and logo therapy. In 2018 they also started with a weekend house. So since Noa is 10 years old she stays at the day center from Friday until Sunday afternoon once a month.


At the age of 4-5 years Noa started sitting and she is still doing this. She can roll over. She can walk with a walker but a lot of time she stands still. Noa can not talk but as with a baby we know the basics like when she is tired, hungry, sad and or happy.


As almost all CDKL5 children Noa has seizures since she is 2 months old but the older she get they become less. She has absences, tonic and tonic-clonic seizures. All very short max 5 minutes. She always get out of the seizures herself and then just goes on with what she was doing. She has used the following epileptic medicins: Fenobarital, Depakine, Orfiril, Frisium Kepra, Sabril, Lamotrigine now she is only using Topamax

Other medical challenges

Noa has no other medical challenges besides the epilepsy. She sleeps normal, eats everything when it’s soft. She is normal height and weight. She only has small hands and feed.


Noa goes 3 times a year to the hospital to visit the child neurologist and 2 times to visit the revalidation arts. The last is to check her hips and back. Until now is still straight but she still has to go through puberty.

Special Equipment

Noa has the following special equipment: Wheelchair, for in house eating chair, spalks to prevent during meals she is putting her hands in her mouth, elevator in house to bring her to her bedroom, special bed which goes up and down, brancard with shower to clean and dress her, elevator in a special bus to drive her.


From day 1 Noa is an easy going girl. Of course she lives for a big part in her own world but I know that if she was healthy she was also a quiet, easy and beautiful girl.


My daughter, Josephine, is 3 years old. She is loving, sweet, demanding, needy, and the light of my life along with her older neurotypical siblings who are 16, 18, and 21.

She was diagnosed with CDKL5 right at her third birthday, which was less than 3 months ago. Our CDKL5 case seems to be very different from anyone else I’ve met in that my daughter has 2 rare conditions and one additional condition that isn’t all that rare. She was diagnosed via genetic testing at 3 weeks old with Congenital Myotonic Muscular Dystrophy, also known as DM1. I, her mother, was diagnosed with a much milder version at that time. She seemed to have a pretty typical case of congenital DM1 initially. She needed intubated at birth, had extremely low tone, and was very floppy. They weren’t sure she would survive her first 48 hours and was hooked up to so much medical equipment, I couldn’t hold her for days. When I finally could, it took 3 nurses to place her and everything she needed in my arms. She became more stable and sturdier and was put on a nasal cannula instead of intubation after a surgery to bring her chin forward and open her airway. She had a couple of other surgeries while in the NICU for g-tube placement and other airway issues. She coded twice. Both times I was with her, and I was sure I was going to lose her before she ever even got a chance to be outside the hospital doors.

She had her first seizure while still in the NICU at a little more than 3 months old. She made some odd repetitive movements with her arms. I brought it to the attention of her nurse who realized what was happening and reported it to her medical team. An EEG was ordered and Keppra was started.

As she got older and I connected online with other parents of children with her condition, I started to realize that while she had a lot of similar issues to their kids, she had additional issues too. She remained floppy while other kids with congenital DM1 improve in the first months/years of their life. The seizures where not standard either. Then she was diagnosed with CVI. The thing that bothered me most besides her total lack of head control, was she never used her hands in a coordinated way. She had a couple of difficult to interpret signs and would not grasp a toy on her own. She would only very briefly hold onto something if you placed it in her hand and helped her grip it first. The other kids I saw online were meaningfully and purposely playing with toys and using their hands. I thought at first that the CVI might explain some of her additional issues, but in time, it still didn’t make sense. Then she had an MRI that indicated her brain gray matter had not formed properly. She had some clusters of gray matter. This is known as Gray Matter Heterotopia (GMH). It isn’t considered a rare condition though I hadn’t previously heard of it. Some people with it live a normal life and present as neurotypical. Some are disabled. Many have seizures later in life. It was not connected to her DM1 diagnosis. I thought I finally had my answer to her other issues. I was ready to accept this, but we already had a genetics appointment coming up, because I had been nagging anyone on her medical team that would listen about her other issues that couldn’t be explained by DM1. At that appointment, they decided to run an Epilepsy panel. I had spent so much time trying to get answers that although I thought we had found one, I let them run the test. They had already drawn blood to do so at a previous appointment, and our insurance was covering it. Several weeks later, I got a call telling me they had found something. When they decided to test, they had promised to tell me on the phone, not keep me waiting for a follow up appointment, and they kept that promise. I spent a lot of time researching CDKL5 after that phone call while waiting for the next genetics appointment. Unfortunately, the appointment was useless as the medical professional was using the same resource I had already used to learn more. She was Googling and finding the same info I had already found. We did have a more informative appointment over 2 months after I received her CDKL5 diagnosis with another geneticists.

So, as you continue to read her story, you need to keep in mind that she has 2 rare conditions. Some of the symptoms are from one, some are from the other, and some symptoms overlap. Sometimes I am not sure which issues should be attributed to which condition, and sometimes I do know.

Controlling her seizures has been a struggle since they began. We upped doses and added meds. At one time, she was on 5 meds and sleeping 22 hours a day and groggy the 2 nonconsecutive hours she was awake and was still having seizures. Currently, she is on 3 meds and the ketogenic diet. I feel like her seizures are mostly controlled. She went from 3-12 seizures a day to 1-2 a week. They are very mild, mostly some brief low amplitude jerking in her hands and arms. Two weeks ago, under her neurologist’s care, we started weaning meds. My goal is to wean as much as possible, begin CBD, and then hopefully wean more or all meds. I feel like the meds are slowing her down physically and cognitively. She will always be cognitively and physically impaired, but I want to get her off as much of the meds as possible to see to what degree. Before we started all of the dose increases and additional meds, she was demonstrating better coordination and cognitive ability. I am told the seizures aren’t damaging, so I can only assume it is the meds. The med we first started to wean first is Keppra. She is also still on Trileptal and Onfi. At one time, she was also on Topamax and Vimpat. Due to timing, I am certain it was the Topamax that led to the increased and excessive sleepiness. Neither the Topamax or Vimpat affected the frequency of seizures and we weaned those leading to more alertness.

My daughter is exclusively g-tube fed. Her g-tube was placed at 4 months old about a week before she was finally released from the NICU. At one time, she was allowed tastes, but has since failed a swallow study and takes nothing via mouth. It was upsetting at first, but we now have a great routine. I feed her a blended diet that I prep once a month and freeze. G-tube feeding has made following the keto diet so much easier. She does sometimes have issues with constipation regardless of what she is being fed.

She was diagnosed with CVI about a year and a half ago. She was placed at a 1 on the scale. This was at the time when she was sleeping the day away, so it was difficult to get her to participate in the evaluations. A few months ago, she had another evaluation and was placed at 4.5 on the scale. I can definitely see the improvements. She looks at familiar faces and toys and has started turning to look at sounds. She also seems to be able to see pages in books that are very familiar and simple.

Every 6 months, she goes to an all-day appointment at her neuromuscular clinic for her Congenital Myotonic Muscular Dystrophy. All of her specialists see us in one room. One of these is a cardiologist due to heart concerns from DM1. She does have a slightly elongated QT rhythm, but it is still in the normal range. I found out that CDKL5 also had heart concerns, but the monitoring she already required covered the monitoring she would need for CDKL5. She also sees 2 neurologists, ortho, plastic surgery, genetics, pulmonary, endocrine, rehab specialists, dermatology, ENT, and probably others I am forgetting.

She is on oxygen via nasal cannula at night when she sleeps and a pulse ox. She will soon have a sleep study to evaluate her for a C-Pap. She does fine respiratory-wise during the day as long as she is not ill. When she has an illness, she sometimes needs oxygen during the day too. It does take her a lot longer to get better when sick than a typical child.

She still has little to no head control. She doesn’t lift her head off the floor when on her belly. If I am fully supporting her, she can look left and right. She has no fine motor skills. She still doesn’t play with toys other than to bat at familiar objects suspended in front of her.

She knows 4-5 signs (hi, bye, more, all done, love you). She will only do them on rare occasions. We are working on communication via switch using a program called two step partner assisted scanning. We have a binder of choices that I can read to her and she can hit a switch by her head for no and one by her hand for yes. She is willing and able to do this, sometimes better than others. Our goal is to work up to using a communication device instead of a partner and binder.

We have had some severe sleep issues. Recently, she was sleeping a lot during the day and awake frequently at night. She wasn’t upset at night, just noisy, and she sleeps in her bed next to my bed. I couldn’t keep her awake during the day, she just slept through everything including showers and therapy. I hated to add another med, but she was sleeping her life away, sometimes from 10 PM one night to 6 PM the following day waking up in the middle of the night around 2-3 AM for an hour or so and again around 4 AM. She was put on a very low dose of Ritalin two months ago for this issue. Her pulmonary specialists stated that he usually waited until his DM1 patients were 5 before starting this, but in this instance, it was warranted sooner. Within 24 hours, she was on a much better schedule. She sleeps 12 hours at night and is awake and alert for 12 hours during the day.

She is currently in OT, PT, Speech, and Vision therapies. She takes sessions of aquatic therapy also. She has done individual music therapy in the past but outgrew that program at 3. They have a program for ages 5 and above in a group setting, and we look forward to joining in again then. I have found the therapies helpful. They give me lots of ways to work with her at home too.

She started preschool recently at our public school. They have a great set up and are well known for serving IEP kids. The teacher is certified in special needs and the class sizes are a max of 16 kids, usually less, with half having IEPs and half typical. Josephine has her own aid. I was hesitant to send her to school due to concerns about taking care of her medically, but they have done a terrific job after allowing me to come in and show them her needs. She goes 3 days a week in the afternoons. They took my daily list of therapeutic activities that I did with her at home and completely took those activities over at school. I get to be just mom, not therapist on those 3 days, and I love it. One other day a week, she goes to a local therapy center with 3 other kids. Parents attend also. She gets OT, PT, and Speech there.

We have lots of medical and therapy equipment to help us care for her. Our house looks like a therapy center. She has an Infinity feeding pump, custom AFOs, sensory room, stander, Special Tomato seat, Tumbleform seat, a Zippy Iris wheelchair, Convaid Cruiser medical stroller, padded floor mats, i-Pad, therapy wedge, saucer swing, Firefly Splashy, Firefly Go-To seat, a bath seat with legs, cough assist, suction machine, pulse ox, travel pulse ox, oxygen concentrator, safety bed, switch adapted toys, various trays and tables to put things at the correct height in her stand/sit equipment, and a gate trainer that she isn’t really ready for. I use a few different soft structured baby carriers to haul her around when the terrain or our mood isn’t suitable for wheels. Some of these items insurance covered, some I bought new or used, and some were kindly donated to me from other parents in different Facebook groups. We are modifying our van early next year. Our home is a quad with four floors, and I don’t know how much longer I can haul her up and down between the 3 floors she is frequently on. We’d like to move to a more suitable home, but the timing isn’t right for other reasons.

Josephine mostly enjoys sitting with me. She doesn’t laugh out loud almost ever, but she will light up sometimes while I talk to her. She lets us know what she wants and doesn’t want with her moods and behaviors. She seems happy enough to go to school and the therapy center. We read and do various therapy activities that I try to make fun for her. We play little games swatting a ball back and forth on her stander tray, signing ‘love you,” and tickling her feet or toes. It makes my day when she manages to respond to me, because it is so difficult for her to coordinate her movements to do so. I know there is more to her cognitively than most people can see, but it is difficult for her to show that due to her physical limitations. I make sure everyone knows and understands this about her so that they interact with her accordingly.

I hope desperately for a cure for both conditions. I would obviously be thrilled with a cure for either condition though. I wonder what that would mean for her. What would she be like if she only had DM1 or if she only had CDKL5? Regardless, I love her just the way she is, but I can’t help wanting everything for her that most other kids have.


Maia is a tall and slender 11-year old girl who keeps everyone around her on their toes at all times. Maia’s seizures started at the maternity hospital, even though they were not officially diagnosed until when she was about 3 months old after tenacious doctor and hospital visits with mum and dad, and several attempts of different testing, including EEGs and MRIs.

She was originally diagnosed with epilepsy in infancy and given the prognosis of growing out of her seizures by toddlerhood. However, the neurologist kept looking for the reason for her seizures and developmental delay, and when she was 4 years of age we finally received the diagnosis of CDKL5 (heterozygous for the mutation c.163_166delGAAA in exon 5). The neurologist had sent off blood samples to the laboratory in Cardiff, and by chance they came back positive. We received the diagnosis by a phonecall from our neurology nurse, with very little information about the condition, except the suggestion to visit the IFCR website. Later on both of us parents were tested too, but we were found not to be carriers.

Maia Malone
Maia’s seizures were got under control for 14 months, at the age of 3 months, with monotherapy of Sodium Valproate. She did really well developing and growing during that year and a bit. But when the seizures returned, there has subsequently been no more seizure freedom. Throughout the years we have tried and tested a dozen different AEDs. Currently she averages between 5 – 9 tonic seizures per week, with intermittent absences that we find difficult to keep count of. Her tonic seizures come 99% of the time when she is asleep. She is on Zonisimide and Clobazam as well as the VNS.

The VNS was installed when she was 6 years old. A year after the implantation we were able to wean off the Sodium Valproate that she had been on for over 6 six years. With the combination of the wean off of the Valproate and the VNS Maia became much more alert and engaging, she was starting to learn again and when turning 7 years of age, she started walking independently for the first time in her life. She has kept her walking up to this day, and while it is very wobbly and we need to be watchful of her while she is walking, it has given her a degree of independence.

Maia’s gut has a very low mobility, and she gets easily constipated. She is treated with daily laxatives. She also has a rectal prolapse, which occurs 9 out 10 times when she is toileted. The consultant is not willing to operate on it due to a very high probability of the prolapse reoccuring because of the general condition. Gastrointestinal gas causes her terrible pain and discomfort and is a seizure trigger. We have not been able to find any help or relief for the gas.

Maia feeds orally regular foods, but they need to be pureed of mashed consistency. We have her on a lactose free diet as we feel lactose maybe contributing to the excess gas in her bowels. She drinks independently from a sippy cup, but needs to be spoon-fed.

Maia was diagnosed with precocious puberty three years ago at the age of 8. As her doctors felt she was two young to start puberty and that the hormones might affect her seizure control adversely she was started on hormone injections called Decapeptyl to halt the puberty. The injections are given every 12 weeks, and the endocrinologist predicts that the injections will be kept up until she reaches 12 years.

Maia has not been officially diagnosed with CVI. It has, however, been established that she can see perfectly well, but what her brain does with the visual stimulus it receives is a bit of a mystery.

Maia’s general health is good – she has not suffered from pneumonia or other severe infections. We have been lucky to avoid frequent hospital stays with her.

Maia’s gross motor skills are fairly good. She can sit unaided, raise up from the floor to standing and walk independently. She started coasting along furniture during her seizure free period before the age of one. Once the seizure returned that plateaued, and she didn’t start walking again until at the age of 7. Some times she still prefers to crawl on all four. She does need supervision with all of her mobility though, as she has no perception of space or sense of safety for her self. She has a helmet for head protection when she walks about, but she is always full of bruises on her legs and knees from her tumbling. But we prefer her to have freedom of movement at home as during the day at school she is confined to a chair most of the time. When at home she paces up and down the house, and then curls into a ball every now and again for a rest.
Her fine motor skills are moderate also, she is able to pick up small things with her fingers, and pick toys independently and transfer them from one hand to the other. She mouths most of her toys and often her fingers and hands also.

Maia has some CDKL5 typical movements, such as clapping her hands, sitting cross-legged, mouthing objects/hands and grinding her teeth.

Maia has difficulties with her sleep, in the evenings she finds it hard to shut down. We give her melatonin to help with this, but there are nights 4 – 5 times each month when she may go through the whole night without sleep. That can be hard going for mum…

Maia does not have any speech, not a single word. But she gets her wants and dislikes across very firmly. She will push away with her hand or turn her head if she does not want something, or reach and crab something she does want. She can also choose between two offered options, for instance milk or juice by reaching for her choice. We have not been able to establish any method of communication with applications or picture cards, though we do use objects of reference to support speech.

Maia has been receiving physio-, occupational-, speech and language and hydrotherapy along the years. Hydrotherapy is her absolute favourite, she loves being in water, whether it’s the bath, the pool or a lake. But she does tend to swallow a lot of water in the process… Her school is attached to a therapy services centre, so she receives her therapies during school time.

Maia goes to a special school for children with multiple disabilities. This is her 6th year of being in the school. She likes school and enjoys going, and we notice especially during long holidays how she gets a bit bored at home. At school she gets to do all kinds of nice things with her class friends, physical education, home-economics, counting etc. She has “floor-time” twice a day to get out of her chair for 5 – 10 mins at a time. Otherwise she spends her school day in a chair of some sort, on her wheelchair in the bus to and from school, in an activity chair during the day, and in a toileting chair in the bathroom. We have the same chairs at home too.

Other equipment that Maia has is a wheelchair accessible car at home, an activity chair for feeding and other activities at home, and a through the floor lift, as our house is on two levels, with bedrooms upstairs. We were given a hoist for Maia as well, but we find using it too difficult as Maia is so mobile and at home rarely in a chair unless she is being fed or toileted, or when we go out and about.

Maia lives at home with mum and dad, her little “big” sister, two cats and an aquarium. Maia loves being outdoors, going for wheelchair walks or walking up the road hand in hand with dad or mum. She has a swing that she loves, and a small trampoline that she loves bouncing on. She loves feeling different textures, so outside she loves lying on the lawn feeling the grass, or playing with gravel or sand on the yard. Maia also loves the sun, she always finds the “sun spots” on the floor and seeks to go into them. Maia likes music and loves making lots of noise, she has lots of instruments that she likes to play, such as a tambourine, maracass and jingle bells, the noisier the better!

This is Maia in a nutshell, with all her ailments and aches. Each day is a new day, some full of joy and some very tough and arduous, but she is a strong young lady who keeps us fit with all that goes along with her!


Kiera is a twelve year old beautiful and free spirit living with CDKL5 deficiency. She lives at home with her mom and dad, and sometimes her equally free-spirited grandfather, who is her best friend and partner in mischief. There’s no one she adores more!

To be with Kiera is to be in the presence of pure love and grace. Her beauty reaches deep to her soul, and she loves to be around people. She loves to look them straight in the eyes and study their faces, and then cuddles up next to them. She has an incredible smile and infectious laugh. Kiera knows what she wants, and what she doesn’t, and isn’t afraid to tell you. Emphatically. Her spunk, strong will and perseverance has served her well, and makes me so proud. Kiera knows she’s more than this diagnosis, she has a heart, mind and soul that is rich with experiences, emotions, opinions, likes and dislikes, hopes and dreams. She is a gorgeous spirit to behold. She laughs loud, sings beautifully, loves opera music (the tenors in particular), Christmas songs, Adele and Beyoncé. Kiera loves the ocean waves, the night sky, blinking lights, bubbles, books and dolls. She loves riding trains, carousels, and petting horses. She loves dogs from a distance!), and loves to lay in the grass and feel the coolness against her skin. This is who she is now. It has been an incredible journey to get this point in time. We constantly live on the edge of the devastation that CDKL5 deficiency has caused and we dread the possibilities of things getting worse for Kiera. Yet we are in awe of the incredible world of rare diseases we have become a part of, and the people and families affected, and we are inspired by the resilience, determination and strength of the human spirit.

Our lives were irrevocably changed when Kiera had her first seizure when she was just two months old, and suffered daily seizures for the first year of her life. She was on many different medications that first year, but nothing helped. Finally Kiera seemed to find relief with phenobarbital, keppra and Lamictal, and she had an apparent honeymoon period of 18 months with no visible seizures. What we learned later was that she was probably still having sub-clinical seizures, and we simply didn’t recognize it. Genetic testing was performed on her sporadically those first few years, all with negative results, and eventually her doctors determined she probably had atypical Rett Syndrome. However, in 2008, Kiera’s doctors sent her to the Cleveland Clinic because they had never seen a child like her, and they wanted a 2nd opinion. It was there we received the official genetic diagnosis of a mutation on her CDKL5 gene, a nonsense mutation on exon 18. She was three years old.

Since the initial honeymoon period when she was a baby, Kiera has never been seizure-free. We’d have days (even a few weeks) without seizures, but eventually her seizures became daily, and completely intractable. That is still true today. She has been on over 20 different anti- seizure medications over the past 12 years, either alone or in combination. She tried the ketogenic diet without success. She had participated in the Epidiolex clinical trial and was on CBD oil for one year. This oil helped her seizures more than any other medication, but she suffered intolerable side effects from the CBD and so we had to take her off. We are in the process of enrolling Kiera into a clinical trial of a new anti-seizure medication.

Along the way, Kiera has continued to grow and blossom, although at a very slow pace. Many consider Kiera “high functioning” for CDKL5, but some days it sure doesn’t feel that way. We never like to say she is physically or cognitively impaired, just delayed a bit! She is always making slow progress, which we celebrated with sheer joy and pride with every inch stone. With intensive physical, occupational and speech therapy, Kiera learned to go from sitting to transitioning to her hands and knees, and when she was two years old, she started to crawl. Over the next 13 months, she gained core strength, learned to tall kneel, pull up to stand, cruise, and finally, with sheer perseverance and determination, Kiera took her first independent steps on Christmas Eve 2008, just after her 3rd birthday. Her world opened up after that milestone, and she has been building on those skills ever since. We continue to maintain her aggressive therapies to keep her skills strong, and to learn new ones. Kiera also has good use of her hands and can feed herself with a spoon or fork, but needs some assistance, and she can hold pencils and crayons, turn pages in a book, open doors, and many other things that highlight her fine motor skills. Kiera can communicate in many ways, including talking, sign language, and a talking communication app on her iPad. This last one is a work in progress!

Other therapies that Kiera has taken part in include Hippotherapy (very helpful for her core strength!), music therapy, dance/movement therapy, ABA, intensive OT and speech, feeding therapy and sensory therapy. She continues these therapies even to this day, although we take frequent breaks in between.

Unfortunately, like many children with CDKL5, Kiera suffers from other challenges brought on by this genetic disorder. Kiera has CVI, but very mild. She has many GI issues, including slow motility, constipation, severe abdominal bloating and pain, and eventually failure to thrive. When she was eleven years old, she required a G-tube. The G-tube has helped in so many ways, and she no longer has severe pain or bloating, and she has gained weight. She looks healthier, and we can keep her fed and hydrated when she doesn’t want to eat orally. Unfortunately, the G-tube surgery made her reflux much worse, and we are working on that issue currently.

Kiera also has anxiety and several features of autism. She paces constantly and can’t seem to sit still. She fixates on objects, and has repetitive behaviors. Very recently, Kiera started to breath hold, and her lips turn purple. She has never done this before and it’s a new and frightening symptom that we’re figuring out. We don’t understand why, and she has been evaluated by a large team of doctors to help sort through these concerns, but we don’t have answers yet.

We are lucky in that Kiera tends to sleep pretty well, and wakes up with a smile every day!

Kiera goes to a regular public school, she is currently in 6th grade. She is fully included with the general students, but she has a one-to-one helper with her every minute of the school day. She can’t always keep up with her typical peers, so she spends some time in the special ed classroom to work on subjects at a level more appropriate to her cognitive strengths. Kiera mostly loves school, and her favorite parts of her school day are reading with friends, lunch, music, choir and band (Kiera plays the bells), and of course, recess with her friends. Sadly, Kiera spends much of her day at school in her wheelchair because the school is worried about safety. We make up for it at home, because she has complete freedom to walk and roam and play inside or outdoors without her wheelchair. One of her favorite outdoor activities is riding her 3-wheel Freedom Concepts trike. Purple of course!

Kiera has, or needs, a few other pieces of equipment. We have a wheelchair in case we’re out and about and she has a seizure, she has a car seat, and we are waiting on the delivery of an activity/feeding chair for home so we have an extra level of safety during meals when needed. Kiera has a protective helmet for seizures in case she falls, but she refuses to wear it. It causes her great distress and anxiety, and so it’s a decorative contraption on a shelf in her closet! We are close to needing a lift for Kiera to help transition her from bed to bathroom in the mornings because her muscle tone is extremely low upon waking up. She’s very floppy in the morning and we have to carry her until her body wakes up. Kiera is often unstable in her walking due to the high burden of seizures, and so I often wish I can wrap her in bubble wrap! My heart breaks with each bump or bruise or fall. We all do our best to be her human bumper car, but it’s impossible to do 24 hours a day.

This is a brief snapshot of Kiera Grace, and her life living with CDKL5 deficiency. We are working hard to find treatments and a cure for her and all children affected by this condition. We will never give up hope!