A Mothers Love
At first glace Alice looks like any other happy three year old. Then you notice she can’t walk or use her hands the way other children her age can. That’s because Alice is one of only 3 girls in Australia diagnosed with a condition called CDKL5. CDKL5 is a genetic condition with no known cause, treatment or cure, which affects mainly girls. Children with CDKL5 have a prognosis of intellectual and physical disability, life threatening seizures and gastric dysfunction. “When Alice was younger she could have up to 30 seizures a day, she slept on my arm every night so I could feel when she stopped breathing; we were told she was going blind and dying. Now Alice still sleeps in my room but she cries out before a seizure so I know when she needs me … we get a little more sleep now than we use to”. Alice spent most of the first 2 years of her life in and out of hospital battling to stay alive, now she is strong enough to crawl and can almost stand up and she loves playing with toys and with her friends. Alice still has regular visits to her specialist in Melbourne but most days she is healthy enough to participate in therapy; helping her learn to walk, talk and to develop other skills.
Medications appear to make Alice’s seizures worse and for a long time Alice vomited constants and was chronically constipated. I was told nothing could be done for her. I’m not the sort of person who believes nothing can be done so now Alice is on a strict diet with no dairy, soy, wheat, gluten, additives or artificial colours in her diet. She rarely vomits, her bowels are regular and she is physically very health”.
I have just returned from a Bio-Medical conference in Sydney, organised by the Mindd Foundation (http://www.mindd.org/). The Mindd Foundation was initially set up to support families of children diagnosed with Autism Spectrum Disorder but is a wonderful organisation for anyone interested in children's health. The conference was primarily focussed on; looking at the link between a genetic predisposition to disease and the affect of toxins on health. Discussion focussed on a need to reduce toxins, detoxify the system, and heal the damage in order to restore optimum function.
CDKL5 is being discussed for the first time ever, at a European genetics congress in Milan, Italy, In June. “What an incredible opportunity for me to meet some of the greatest scientific and medical minds, in relation to genetic conditions, from around the world. I am going to the congress armed with questions specifically about my Alice but also with data collected from other parents around the world including America the UK and Europe, whose children have CDKL5. We have all found that food and nutrition affect our children in different ways – helping to control their seizures and manage their digestive dysfunction. I aim to present our information, I hope I will learn from the experts but, I also think we the families have some important information to share with them, so that together we can find some answers. It may take time, and we may not get the answers we want in time to save our own children, but if we could help other children and their families in the future, that is important too”.
I think misdiagnosis, mistreatment and over-medication has impacted significantly on Alice’s overall condition including intellectual functioning – if we can find answers for these children, with the support of science and medicine to back up our findings – then maybe in the future other children and their families won’t have to go through the trauma we have.
CDKL5 is such a rare, unknown condition that no one knows what causes it or how to treat it … the prognosis is fairly gloomy with the seizures becoming worse and the children having a fairly short life expectancy but “no scientific study would be validated on such a small sample size (60-70 children diagnosed worldwide) so to me that says there’s hope, there has to be answers. What I’m doing is like piecing a puzzle together, I have some pieces of the puzzle and some are still missing, I need to find them - there are answers out there – I believe all questions have an answer, some are just more difficult to find than others”
If you would like to know more about CDKL5 visit http://www.cdkl5.com/ and if you would like to know more about Alice and her friends from around the world click on ‘personal stories’ on the left side of the website front page.
At first glace Alice looks like any other happy three year old. Then you notice she can’t walk or use her hands the way other children her age can. That’s because Alice is one of only 3 girls in Australia diagnosed with a condition called CDKL5. CDKL5 is a genetic condition with no known cause, treatment or cure, which affects mainly girls. Children with CDKL5 have a prognosis of intellectual and physical disability, life threatening seizures and gastric dysfunction. “When Alice was younger she could have up to 30 seizures a day, she slept on my arm every night so I could feel when she stopped breathing; we were told she was going blind and dying. Now Alice still sleeps in my room but she cries out before a seizure so I know when she needs me … we get a little more sleep now than we use to”. Alice spent most of the first 2 years of her life in and out of hospital battling to stay alive, now she is strong enough to crawl and can almost stand up and she loves playing with toys and with her friends. Alice still has regular visits to her specialist in Melbourne but most days she is healthy enough to participate in therapy; helping her learn to walk, talk and to develop other skills.
Medications appear to make Alice’s seizures worse and for a long time Alice vomited constants and was chronically constipated. I was told nothing could be done for her. I’m not the sort of person who believes nothing can be done so now Alice is on a strict diet with no dairy, soy, wheat, gluten, additives or artificial colours in her diet. She rarely vomits, her bowels are regular and she is physically very health”.
I have just returned from a Bio-Medical conference in Sydney, organised by the Mindd Foundation (http://www.mindd.org/). The Mindd Foundation was initially set up to support families of children diagnosed with Autism Spectrum Disorder but is a wonderful organisation for anyone interested in children's health. The conference was primarily focussed on; looking at the link between a genetic predisposition to disease and the affect of toxins on health. Discussion focussed on a need to reduce toxins, detoxify the system, and heal the damage in order to restore optimum function.
CDKL5 is being discussed for the first time ever, at a European genetics congress in Milan, Italy, In June. “What an incredible opportunity for me to meet some of the greatest scientific and medical minds, in relation to genetic conditions, from around the world. I am going to the congress armed with questions specifically about my Alice but also with data collected from other parents around the world including America the UK and Europe, whose children have CDKL5. We have all found that food and nutrition affect our children in different ways – helping to control their seizures and manage their digestive dysfunction. I aim to present our information, I hope I will learn from the experts but, I also think we the families have some important information to share with them, so that together we can find some answers. It may take time, and we may not get the answers we want in time to save our own children, but if we could help other children and their families in the future, that is important too”.
I think misdiagnosis, mistreatment and over-medication has impacted significantly on Alice’s overall condition including intellectual functioning – if we can find answers for these children, with the support of science and medicine to back up our findings – then maybe in the future other children and their families won’t have to go through the trauma we have.
CDKL5 is such a rare, unknown condition that no one knows what causes it or how to treat it … the prognosis is fairly gloomy with the seizures becoming worse and the children having a fairly short life expectancy but “no scientific study would be validated on such a small sample size (60-70 children diagnosed worldwide) so to me that says there’s hope, there has to be answers. What I’m doing is like piecing a puzzle together, I have some pieces of the puzzle and some are still missing, I need to find them - there are answers out there – I believe all questions have an answer, some are just more difficult to find than others”
If you would like to know more about CDKL5 visit http://www.cdkl5.com/ and if you would like to know more about Alice and her friends from around the world click on ‘personal stories’ on the left side of the website front page.
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