This article was recently published in 'Pep Talk' published by
The Association for Children with Disability.
There are times when you have to hear the very worst of words from medical specialists; to absorb a prognosis you’d never imagine for your own child. When Nicole and Michael’s daughter Alice was 25 weeks of age, they couldn’t have been told more difficult news. Alice is going blind and is dying.
Suffering more than 30 life threatening seizures a day due to a rare genetic condition known as CDKL5, Alice had a very difficult start to her young life. She’s one of just five children in Australia to be diagnosed with CDLK5 which causes intellectual and physical disability, life threatening seizures and gastric dysfunction.
“But you know what,” explains Alice’s mother Nicole, “I have always believed Alice is meant to be here; she has always had a way of letting us know she wants to be here and, that she is here for a reason. She’s just celebrated her fourth birthday.”
As the family came to grips with the confusing and little-known diagnosis, there was never a moment they stopped believing in Alice and maintaining hope. Armed with this faith, Nicole has defied early medical expectations of Alice’s lifespan and development. She has turned to a range of specialists, including alternate therapies, to assist her daughter; and has even travelled to Italy in search of answers.
“Our therapy and treatment approach may not be right for every one,” explains Nicole, a practicing Speech Pathologist, “but for us and with so little known about this condition, it was important to investigate all options. Drug therapy was not assisting Alice’s seizures but making them worse, and as a parent who knew my daughter better than anyone, I knew it was time to seek other opinions and answers. It’s like looking for the pieces of a puzzle – we are slowly piecing it together and starting to see more of the whole picture.”
From ‘take her home to die - there’s nothing more we can do,’ at a time when Alice was so heavily medicated she was unresponsive to stimulus and only woke for seizures, Alice is now crawling and even learning to walk. She takes no anti-convulsant medication and now only has three to four seizures a week.
With a team of professionals ranging from a doctor who has studied Nutritional and Environmental Medicine, through a range of therapists and experts, and a strong focus on nutrition and supplementation, Alice’s seizures have gradually improved. While also under the care of a neurologist and paediatrician for advice and assistance, it was the family’s proactive approach to Alice’s care that shifted this baby’s life from one of constant seizures to one of a little girl developing and growing.
Brave and committed to Alice’s continued improvement, last year Nicole attended a genetics conference in Milan, Italy. Sitting with the world’s leading genetic engineers and scientists may have been daunting. But it didn’t stop this Tasmanian country Mum from standing up, microphone at the ready, and asking her questions (which were translated into five or six different languages) to the panel of medical experts sitting before her.
The conference focused on Rett Syndrome and for the first time CDKL5, both of which have been mistaken for one another due to their similarities. Both are genetic conditions, but where sufferers of Rett Syndrome seem to develop normally then present with the condition, CDKL5 usually presents not long after birth.
“I listened to statistics and developing theories, and increasing research is taking place into CDKL5 (especially here in Australia), but not much was offered in the way of answers or treatment,” says Nicole, “I wanted to know not just the statistics or features which define and help diagnose our children, but how we can ensure a better quality of life and a more positive outcome for our children.”
The determined Mum left her mark on the conference and was approached by many of the experts herself, still keeping in contact with scientists and specialists from around the world. She met with inspiring parents who shared their own stories and, who also wanted to know about Nicole’s experience with supplements and sound nutrition, and how this approach assisted Alice’s quality of life.
Nicole believes that through good nutrition and supplements, de-sensitisation and physical therapy, Alice has improved immensely. She believes that maximising health will minimise the affect of seizures and help to maximise potential. This approach may not stop every seizure, but gives Alice the health and strength to recover and minimise the impact these seizures have.
There is no doubt that some days are hard. A four year old who cannot walk, talk or even feed herself can complicate a family’s life when you are trying to tend to the chores of everyday life. It has certainly not been an easy path for Alice’s family including her five year old brother. But as always, the family remains strong.
Having just turned four, the future is looking bright for young Alice. She has spanned 211 days seizure free around the age of three, and although suffers from three to four seizures per week currently, is certainly a long way from her fragile early days of life.
“She can crawl now,” says Nicole, “she’s unstoppable around the house and is also learning to walk with her walking frame. She plays with toys, can feed herself finger food and is far more aware; she even picks up on the emotions and feelings of others; laughing at our jokes, or growling at me when I growl at her brother!”
There is no doubt that young Alice will blossom and share far more of her personality in years to come. This is only the beginning for Alice.
Alice Hansen
Suffering more than 30 life threatening seizures a day due to a rare genetic condition known as CDKL5, Alice had a very difficult start to her young life. She’s one of just five children in Australia to be diagnosed with CDLK5 which causes intellectual and physical disability, life threatening seizures and gastric dysfunction.
“But you know what,” explains Alice’s mother Nicole, “I have always believed Alice is meant to be here; she has always had a way of letting us know she wants to be here and, that she is here for a reason. She’s just celebrated her fourth birthday.”
As the family came to grips with the confusing and little-known diagnosis, there was never a moment they stopped believing in Alice and maintaining hope. Armed with this faith, Nicole has defied early medical expectations of Alice’s lifespan and development. She has turned to a range of specialists, including alternate therapies, to assist her daughter; and has even travelled to Italy in search of answers.
“Our therapy and treatment approach may not be right for every one,” explains Nicole, a practicing Speech Pathologist, “but for us and with so little known about this condition, it was important to investigate all options. Drug therapy was not assisting Alice’s seizures but making them worse, and as a parent who knew my daughter better than anyone, I knew it was time to seek other opinions and answers. It’s like looking for the pieces of a puzzle – we are slowly piecing it together and starting to see more of the whole picture.”
From ‘take her home to die - there’s nothing more we can do,’ at a time when Alice was so heavily medicated she was unresponsive to stimulus and only woke for seizures, Alice is now crawling and even learning to walk. She takes no anti-convulsant medication and now only has three to four seizures a week.
With a team of professionals ranging from a doctor who has studied Nutritional and Environmental Medicine, through a range of therapists and experts, and a strong focus on nutrition and supplementation, Alice’s seizures have gradually improved. While also under the care of a neurologist and paediatrician for advice and assistance, it was the family’s proactive approach to Alice’s care that shifted this baby’s life from one of constant seizures to one of a little girl developing and growing.
Brave and committed to Alice’s continued improvement, last year Nicole attended a genetics conference in Milan, Italy. Sitting with the world’s leading genetic engineers and scientists may have been daunting. But it didn’t stop this Tasmanian country Mum from standing up, microphone at the ready, and asking her questions (which were translated into five or six different languages) to the panel of medical experts sitting before her.
The conference focused on Rett Syndrome and for the first time CDKL5, both of which have been mistaken for one another due to their similarities. Both are genetic conditions, but where sufferers of Rett Syndrome seem to develop normally then present with the condition, CDKL5 usually presents not long after birth.
“I listened to statistics and developing theories, and increasing research is taking place into CDKL5 (especially here in Australia), but not much was offered in the way of answers or treatment,” says Nicole, “I wanted to know not just the statistics or features which define and help diagnose our children, but how we can ensure a better quality of life and a more positive outcome for our children.”
The determined Mum left her mark on the conference and was approached by many of the experts herself, still keeping in contact with scientists and specialists from around the world. She met with inspiring parents who shared their own stories and, who also wanted to know about Nicole’s experience with supplements and sound nutrition, and how this approach assisted Alice’s quality of life.
Nicole believes that through good nutrition and supplements, de-sensitisation and physical therapy, Alice has improved immensely. She believes that maximising health will minimise the affect of seizures and help to maximise potential. This approach may not stop every seizure, but gives Alice the health and strength to recover and minimise the impact these seizures have.
There is no doubt that some days are hard. A four year old who cannot walk, talk or even feed herself can complicate a family’s life when you are trying to tend to the chores of everyday life. It has certainly not been an easy path for Alice’s family including her five year old brother. But as always, the family remains strong.
Having just turned four, the future is looking bright for young Alice. She has spanned 211 days seizure free around the age of three, and although suffers from three to four seizures per week currently, is certainly a long way from her fragile early days of life.
“She can crawl now,” says Nicole, “she’s unstoppable around the house and is also learning to walk with her walking frame. She plays with toys, can feed herself finger food and is far more aware; she even picks up on the emotions and feelings of others; laughing at our jokes, or growling at me when I growl at her brother!”
There is no doubt that young Alice will blossom and share far more of her personality in years to come. This is only the beginning for Alice.
Alice Hansen
