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.