On 13th, October 2009 at 5.00AM my husband and our daughter welcomed our beautiful baby boy, Chase Julian Paul Charles to the world. Chase weighed a healthy 7 pound 4 and was 49cm long. We were so excited to have a little boy, a little boy who would hopefully one day play footy. But little did we know that this dream would never become a reality.

When Chase was about a week old, he did a lot of funny eye flickering, which we didn’t really think anything of and thought would just go away over time. He was always a very sleepy baby and looked quite bluish around the mouth. When Chase was 3 weeks old he got admitted into the Geelong hospital for bronchialitus. Chase had his very first seizure. He went a purple color and his oxygen dropped below 40. After that first seizure he had another one, another and another until they came every 10 minutes. He was then sent off for an EEG to confirm that they were seizures. He was then transferred to RCH in an incubator, as the doctors suspected he might have been suffering from meningococcal or meningitis. His report was sent to the NICU ward where they did 3 lumbar punctures and many blood and urine tests to see if he had meningococcal or meningitis. All of these tests came back negative. He spent a couple of weeks in NICU undergoing many of blood tests, MRI, an ultra sound and urine tests. None of these tests showed anything. Chase’s seizures continued and got worse to the point where he was being admitted on a fortnightly basis and loaded with medications that made him sleep until he had so much medicine in his body that if he had anymore he would have gone into a coma. When Chase was 3 months old he got admitted to RCH to have EEG video monitoring. After the 3 days of the video EEG it just showed us that Chase’s seizures were coming from all over in his brain so he was not eligible for surgery. When Chase was about 4 months old he finally got physiotherapy through the Geelong hospital and that was when we found out that Chase had Global Developmental Delay. He had no head control, couldn’t roll, or really do anything like normal babies.

At this same time we had also learnt that Chase had what is called Cortical Visual Impairment (CVI). This means that his eyes can see what he is looking at but his brain cannot process the information. He has been classified as being legally blind even though he isn’t blind and his eyes are perfectly healthy. I really didn’t care if he never walked, but all I wanted was for him to be able to look at me and get excited to see my face like all babies do, but I knew that was never going to happen. CVI isn’t something that can ever be fixed or cured.

He then started to get recurrent chest infections, which had him in hospital every 2 weeks to a month. Every time he got sick, his seizures would get worse. When Chase was one, he got diagnosed with a rare seizure type called infantile spasms or West Syndrome. He was then put into a study to try some medications for 3 months. Unfortunately they didn’t work and Chase still has these seizures now.

Chase’s seizures continued getting worse and we were no closer to finding out why. He had numerous blood and urine tests, 2 skin biopsies another MRI when he was 2, and a plethora of medications. To date, I have counted 17 medications in total, and some of these are not even out on the market yet. When Chase was about 2 he got put on a special diet called the Ketogenic Diet. This diet was very intense and difficult for him. Chase was a little boy who couldn’t do a lot but the one thing he loved was eating and drinking from a bottle. When he started the diet it was so specific and disgusting that eventually Chase stopped eating and drinking and had to be fed thru a nasal gastric tube (NG-tube). The diet wasn’t working for him and he went from having about 8 seizures a day to more than 20. After just over a month of this grueling diet we decided to take him off it.

On March 23rd, 2012 we got the dreaded phone call about the test results, which had been sent in December 2011. The test results showed that my husband and I were both negative for the condition they tested Chase for and that Chase had tested positive for it. We had our diagnosis. Our son had been diagnosed with a rare genetic disorder called CDKL5, a condition that is more common in girls than it is in boys.

A condition that so far only roughly about 700 people have world-wide. A condition that has no cure or no treatment. Our lives had just been smashed with a hammer. Our whole world had come crashing down. This was probably the worst diagnosis we could have been given. CDKL5 is a condition that was discovered in 2004, and not a lot is known about it. We knew that our lives from that day on were going to be an even bigger roller coaster. We had only been given a life expectancy of 15-20 years and were told that Chase could just suddenly die with no explanation. We live every single day with our son as if it is our last with him. Each day with him is therefore very precious.

Written by: Danielle Charles (Parent)