The CDKL5 Campaign 2017 will take place this October and November. Pictured above at the CDKL5 Walk 2016 were Brendan Malone, Jonna Malone, Grazyna Musial, Richard Lynch (back), Emma Malone, Maia Malone and Malgosia Musial (Front). Picture: Sophie Goodwin/ilovelimerick.
Please come out and support the CDKL5 Campaign 2017
By ilovelimerick correspondent Frances Watkins
The CDKL5 Campaign 2017 is taking place this October and November to raise awareness of this rare neurological condition as well as raise some funds towards research for a cure. The CDKL5 walk has taken place over the last four years however this year the organisers have decided to change it up and do something different this year.
This year the CDKL5 Campaign 2017 will be split into two events. The first is a free health and awareness morning which will take place on Wednesday, October 11th from 11-1pm at Garryglass House. Here people will get to sample auricular acupuncture, nail care, a beautician and you will also be able to you’re your blood pressure taken. There will also be information available about CDLK5, refreshments and nibbles will be available and you can get your photo taken in the CDKL5 photo booth.
The second event is an awareness morning that will be taking place in Our Lady of Lourdes Primary School on Friday, November 17th. There you can plant bulbs in the school garden in honour of CDKL5 children. There will be a penalty shootout with medals and face painting for the kids too.
Maia Malone, a 10-year-old girl from county Limerick suffers from this rare neurological disorder. As a result of the condition Maia has severe daily seizures, which are not tamed by medication, she also suffers from gastrointestinal problems, visual difficulties, sleep disturbances, apraxia, bruxism, and she cannot talk or look after herself. Maia needs around the clock care by her family and those around there.
Jonna Malone, Maia’s mother spoke about creating awareness for the event “Currently in Ireland we know that there are only 6 or 7 children with the condition. It was hard to get the diagnosis and in our case, Maia was 4 by the time she was diagnosed. Before then it was just a diagnosis, there is no cure and no treatment to cure her but the diagnosis has helped us develop knowledge of what we are dealing with. By increasing the awareness I hope that other children will get a diagnosis quicker and it will be easier for families.When more people know about the condition it might be easier to have the diagnosis received quicker for other children.”
CDKL5 is a rare X-linked genetic disorder that results in early onset, difficult to control seizures, and severe neuro-developmental impairment. CDKL5 is classed as rare disease however, more and more children and indeed adults are being diagnosed every day.
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 (or 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 to wheelchairs, dependent on others for everything. Many also suffer with scoliosis, visual impairment, sensory issues and various gastrointestinal difficulties. As time has gone on it appears that there might be other symptoms that play a role in the condition.
Ten years ago, Professor John Christodoulou led an Australian research team that studied the DNA of three children from the same family and found a common genetic abnormality occurring on a gene that would later become known as CDKL5. His research was published in the prestigious journal, The American Journal of Human Genetics 2004. Glyn was one of the three children at the focus of Dr. Christodoulou’s study.
Glyn’s Legacy was in his DNA, which helped scientists to begin to identify what we now refer to as a CDKL5 Disorder. Unfortunately, Glyn passed on June 17, 1997, before his disease-causing gene was discovered, but his tragic, short life had an important impact on the children who have since been diagnosed with the same devastating disorder.
For more stories on previous CDKL5 Campaigns click here
For more on CDKL5 click here