Hello I'm Alfie and I was born on Monday 19th January 2015 at 11:51 a very happy and healthy little boy.
When I was 4 months old i started having seizure's but at the time my mummy and daddy didn't know what they were. They took me to out of hours and the Dr said it's probably Colic or Reflux and sent us on our way....
The following weekend i was rushed into hospital on Oxygen, I had lots of test's done whilst there and mummy and daddy came to find out I have Epilepsy, Developmental Delay, Poor Muscle Tone (Hypotonia) and I'm registered blind.
In July 2015 we took a trip down to Bristol children's hospital for 10 days and I had a MRI scan done but it didn't show any problems with my brain, once we left Bristol mummy noticed I was struggling to drink my bottle so I now rely on a NG tube and I'm awaiting a PEG. I'm nil by mouth now.
The Dr has told my mummy and daddy that I have a High risk of dying young and my underlying condition is most certainly life limiting so they want to give me the best life possible. They would like to get me some sensory equipment and lighting.
We have found out my underlying condition it's called CDKL5
CDKL5 is a rare X-linked genetic disorder that results in early onset, difficult to control seizures, and severe neuro-developmental impairment. It is an orphan disorder, however more children are being diagnosed as awareness of CDKL5 spreads.
CDKL5 stands for cyclin-dependent kinase-like 5, and is located 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.
The CDKL5 gene provides instructions for making a protein that is essential for normal brain development. Although little is known about the protein's function, it may play a role in regulating the activity of other genes, including the MECP2 gene (of Rett Syndrome). 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.
Most children affected by CDKL5 suffer from seizures that begin in the first few months of life. Most cannot walk, talk or feed themselves, and many are confined wheelchairs, dependent on others for everything. Many also suffer with scoliosis, visual impairment, sensory issues and various gastrointestinal difficulties
We as a family would appreciate any help to get the right equipment.
Minimum donation is £1 and that £1 helps.
Alfie, Catherine & Nathan
Mummy and Daddy have done some shopping online and got me a few sensory things, we are still waiting for some things to be delivered, Mummy has put a photo in the photo album of what we have so far :)
Please see in the photo album (Alfie's sensory corner).
We would love to buy Alfie more to add to his sensory corner :