Alfies Journey

Welcome to Alfies Journey with CDKL5

DESPITE trying numerous medications Alfie still continues to have 100s of smaller seizures a day. He is on 3 different medications. These medications cause Alfie daily suffering. They make him so upset that he cries pretty much 24/7. The side effectd are absolutely awful. The side effects from one alone is bad enough. Nevermind 3! We are wanting to use this money to spend on supplements for Alfie as we have been told that they will benefit him! They are less harsh on the stomach and have less side effects. But they are super expensive. We are also wanting to afford private therapy for Alfie as the NHS can only provide this once a month. And because he's so upset all the time he sometimes doesn't participate and then it's a whole month then before his next session.

Basically anything we can raise to help Alfie progress and reduce his daily suffering.

Alfie was diagnosed with CDKL5 in 2024. We always knew he was behind developmentally but we didn't know how much of a shock we were in for.

He started with seizures September 2024 at 9 months old. He was diagnosed with Infantile epilepsy with Infantile Spasms at this point. They did a genetic blood test and unfortunately 2 weeks later it came back that he had a rare genetic disorder called CDKL5. We definitely didn't expect this as it usually affects 1 in 60,000 births and nearly always girls. They also say it affects boys more severely also unfortunately.

Everyone who loves Alfie was obviously devastated. Its a devastating diagnosis for us all and poor Alfie who will have to live every day fighting to do things most other kids find easy and he will have to take multiple medicines every day to try keep medicine resistant seizures at bay.

I basically just want to do everything I can to help support my little Alfie.

CDKL5 deficiency disorder is a rare developmental epileptic encephalopathy caused by mutations in the CDKL5 gene, and this can manifest in a broad range of clinical symptoms and severity. The hallmarks are early-onset, intractable epilepsy and neurodevelopmental delay impacting cognitive, motor, speech, and visual function. Although rare, the occurrence is believed to be ~1:40,000 -60,000 live births, making it one of the most common forms of genetic epilepsy.

The CDKL5 gene provides instructions for making proteins that are essential for normal brain and neuron development. The CDKL5 protein acts as a kinase, which is an enzyme that changes the activity of other proteins by adding oxygen and phosphate atoms (a phosphate group) at specific positions. Researchers have not yet determined which proteins are targeted by the CDKL5 protein.

CDKL5 was first identified in 2004, it stands for cyclin-dependent kinase-like 5, and its location is on the X chromosome. The X chromosome is one of the sex chromosomes; females have two X’s, and males have one X and one Y chromosome. The letters are an abbreviation of the scientific name of the gene, which describes what it does. The CDKL5 gene was previously called STK9. Many cases have been identified in boys, but because of the location of the gene, CDD mainly affects girls.