Alice's Journey
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Wednesday, July 16, 2014
Saturday, March 16, 2013
Well I haven't written in a while - so much to do, so little time (isn't that what they say?).
Alice is now 7 years old and it's time I updated some photos and reviewed her progress.
Alice is in grade 1 at main stream school - She LOVES school and has lots of friends ... Alice is so bubbly and happy, maybe a little too loud at times ... but to see her walk up to her friends for a cuddle when she arrives in the morning brings tears to my eyes! YES ALICE IS WALKING!!!
Alice hadn't had any seizures since October 2012, but after a bad week in January 2013, she is now having 2-3 seizures a night. We are now using a medication called Zonegran (Zonisamide) which appears to decrease the intensity and length of the seizures .... but she still stops breathing, and my heart stops for a second every time I hear a seizure start. BUT Alice is truly amazing, she has a seizure then sits up for a hug, and smiles at me ... what spirit and character she has - I am so proud of my girl (but you already know that don't you!!!!)
Alice's diet is still a huge part of my everyday ... everything is carefully cooked, with a balance of fruits, vegetables, meats and carbs ... the wrong balance can cause disaster with her vomiting and in awful pain and of course her seizures get worse. Giving her the wrong food is even worse, and as her
Paediatrician says, is life threatening - so strict supervision is required - now that Alice is walking, and VERY independent, she has to be watched even more carefully than ever.
Alice was walking fairly well, then regressed for a while in January, I think she probably fell and got scared? SO we have worked really hard on getting her back on her feet AND she pushes our hands away and takes off to wherever she wants ... usually off to see her brother or her friends.
Some photos ... See how beautiful she is.... mmmm I put about 15 photos on this blog BUT they all disappeared when I posted it - So I will post more
another day ... Have a look at Joshua's photos via You Tube!!!
I have also included (Via You Tube):
- A video of Alice walking with her brother (of course)
- A preview of a special movie Alice's brother, Josh, made about her progress ... this is truly inspirational
and will bring tears to your eyes ... I am so proud of my clever boy
- An interview Alice, Josh and I did for a Disability Awareness Day
- And a slide show of great photos that Josh made up
My quote for today:
"Our lives begin to end the day we become silent about things that matter."
Martin Luther King, Jr.
... Enjoy ... share with friends ... and I hope to write again soon. X Nicole
Saturday, September 3, 2011
Research, Inspiration, Love, Trials and More!!!
I recently returned from the Mindd conference in Sydney (www.mindd.org) The Mindd Foundations mission statement is 'Mindd Foundation is committed to improving the lives of Australians by promoting Integrative Healthcare that treats the source of illness in each individual with the aim of helping them to reach their full potential and enjoy a life of health and happiness'. Mindd is an acronym for Metabolic, Immunologic, Neurologic, Digestive and Developmental. Mindd focuses on the idea of 'Healthy Bodies Building Strong Brains' as it is believed that; Allergies, asthma, ADHD, anxiety, autism, learning delay, depression, obesity, diabetes, digestive and mood disorders often share underlying and overlapping issues of nutritional deficiencies, toxicity, infections and/or a dysfunctional digestive system. SO - Yes the conference was very intense, with a huge amount of information to absorb and some inspirational speakers who reinvigorated me in my quest to ensure Alice has the best possible chance to be healthy and to have the quality of life she deserves.
My one conundrum is that no matter how much time I spend researching and investigating and trialing and loving; I do not have enough knowledge of health and nutrition to ensure I get exactly the balance required to optimise Alice's health. I know I am on the right track, and I have been fortunate enough to meet so many people along the way who help us on our journey ... but no one seems to have all the pieces of this puzzle ... So a dedicated team of knowledgeable professionals who live and breath this particular area of care is what I have been searching for (never to be an exclusive group but a solid core!). I am not naive enough to expect a cure for CDKL5, or a complete reversal of the early damage done by intellectually limited doctors blinded by their own arrogance (does that sound bitter???), But improving Alice's quality of life and maybe finding a management for the condition (... like Lorenzo's Oil - an inspirational family and a simple management for a devastating genetic condition) is surely not too much to ask.
The Philosopher Voltaire wrote 'Doctors prescribe medicines of which they know little, to cure diseases of which they know less, in human beings of which they know nothing' - unfortunately this is so often true, and we, as a well trained, educated and modern society let them! One of my biggest battles (in the distant past) was with Pharmaceutical companies who feel the need to put artificial colours and flavours in our 'already toxic' medications. One Anticonvulsant medication Dilantin (liquid form) contains the colours Sunset Yellow and Quinoline Yellow - both banned in the USA, and in Australia we have been lobbying to have them banned in our food. These colours have been reported to cause seizures in a small number of cases (and they are in Anticonvulsant meds!) BUT when I discussed this with the Pharmaceutical companies they said the colours and flavours were in the meds to make them more appealing to the consumer - but they had no detrimental effect on the action of the med. THEN ... but they were unable to take the colours and flavours out as they would have to carry out extensive and expensive research before re-releasing them (why ... if they are just there to make the meds look and taste pretty????) Well .... you can see why I started looking for other options as a preferable approach to health care! (Note: Don't forget there are Compounding Pharmacies who can make up almost any medication you require but to your unique specifications ... eg. without the colours and flavours!)
Back to the conference ... It was an inspiring weekend - listening to medical professionals who were not only amazingly knowledgeable but passionate about their area of expertise and about the difference they could make to the lives of our children.
One particular speaker (I went specifically to listen to) is Dr Nancy O'Hara from the USA who is a Paediatrician dedicated to the integrative and holistic care of children with neurodevelopmental disorders and ASD. There was also an animated speaker David Quig (USA) who's particular area of interest is the effect of heavy metal and chemical toxicity on nutrition and metabolism. Julie Matthews is a nutrition specialist, also from USA, who writes books including "Cooking to Heal" and is more passionate about food than any person I know! There were also a number of other doctors, health care professionals and specialists from around the globe who ensured I wrote pages of notes and didn't nod off once during the entire 2 intense days!
On the Sunday I met with Dr Nancy O'Hara who, luckily, remembered my name as I had contacted her by email previously. She agreed to a consult with me on the Monday ... SO after an intense Sunday night (filling in a 24 page questionnaire and ensuring I went to the meeting armed with a list of reasonably intelligent questions ... I didn't want to let Alice's side down!) I spent an intense 2 hours with Nancy and her team (including a specialist based in Sydney) AND they agreed to take Alice on as a patient ...YIPPEE!!!! One step at a time ... I realise our journey is going to be life long, but each step gets us closer and I feel this step is another 'Giant step for Mankind' ... at least in relation to us.
I do love my quotes ... as you may well know ... so here are a few more I collected at the conference.
"Let food be thy medicine and medicine be thy food" Hippocrates
"We must be the change we wish to see in the world" Gandhi
"Do not go where the path may lead. Go instead where there is no path and leave a trail" Emerson
P.S I think there should be a prize given to the person who can count up how many times I used the word 'intense' in this blog!!!! X
My one conundrum is that no matter how much time I spend researching and investigating and trialing and loving; I do not have enough knowledge of health and nutrition to ensure I get exactly the balance required to optimise Alice's health. I know I am on the right track, and I have been fortunate enough to meet so many people along the way who help us on our journey ... but no one seems to have all the pieces of this puzzle ... So a dedicated team of knowledgeable professionals who live and breath this particular area of care is what I have been searching for (never to be an exclusive group but a solid core!). I am not naive enough to expect a cure for CDKL5, or a complete reversal of the early damage done by intellectually limited doctors blinded by their own arrogance (does that sound bitter???), But improving Alice's quality of life and maybe finding a management for the condition (... like Lorenzo's Oil - an inspirational family and a simple management for a devastating genetic condition) is surely not too much to ask.
The Philosopher Voltaire wrote 'Doctors prescribe medicines of which they know little, to cure diseases of which they know less, in human beings of which they know nothing' - unfortunately this is so often true, and we, as a well trained, educated and modern society let them! One of my biggest battles (in the distant past) was with Pharmaceutical companies who feel the need to put artificial colours and flavours in our 'already toxic' medications. One Anticonvulsant medication Dilantin (liquid form) contains the colours Sunset Yellow and Quinoline Yellow - both banned in the USA, and in Australia we have been lobbying to have them banned in our food. These colours have been reported to cause seizures in a small number of cases (and they are in Anticonvulsant meds!) BUT when I discussed this with the Pharmaceutical companies they said the colours and flavours were in the meds to make them more appealing to the consumer - but they had no detrimental effect on the action of the med. THEN ... but they were unable to take the colours and flavours out as they would have to carry out extensive and expensive research before re-releasing them (why ... if they are just there to make the meds look and taste pretty????) Well .... you can see why I started looking for other options as a preferable approach to health care! (Note: Don't forget there are Compounding Pharmacies who can make up almost any medication you require but to your unique specifications ... eg. without the colours and flavours!)
Back to the conference ... It was an inspiring weekend - listening to medical professionals who were not only amazingly knowledgeable but passionate about their area of expertise and about the difference they could make to the lives of our children.
One particular speaker (I went specifically to listen to) is Dr Nancy O'Hara from the USA who is a Paediatrician dedicated to the integrative and holistic care of children with neurodevelopmental disorders and ASD. There was also an animated speaker David Quig (USA) who's particular area of interest is the effect of heavy metal and chemical toxicity on nutrition and metabolism. Julie Matthews is a nutrition specialist, also from USA, who writes books including "Cooking to Heal" and is more passionate about food than any person I know! There were also a number of other doctors, health care professionals and specialists from around the globe who ensured I wrote pages of notes and didn't nod off once during the entire 2 intense days!
On the Sunday I met with Dr Nancy O'Hara who, luckily, remembered my name as I had contacted her by email previously. She agreed to a consult with me on the Monday ... SO after an intense Sunday night (filling in a 24 page questionnaire and ensuring I went to the meeting armed with a list of reasonably intelligent questions ... I didn't want to let Alice's side down!) I spent an intense 2 hours with Nancy and her team (including a specialist based in Sydney) AND they agreed to take Alice on as a patient ...YIPPEE!!!! One step at a time ... I realise our journey is going to be life long, but each step gets us closer and I feel this step is another 'Giant step for Mankind' ... at least in relation to us.
I do love my quotes ... as you may well know ... so here are a few more I collected at the conference.
"Let food be thy medicine and medicine be thy food" Hippocrates
"We must be the change we wish to see in the world" Gandhi
"Do not go where the path may lead. Go instead where there is no path and leave a trail" Emerson
P.S I think there should be a prize given to the person who can count up how many times I used the word 'intense' in this blog!!!! X
Tuesday, July 19, 2011
July 2011 ... the promised update!
It has been a very long time since I last wrote and since Alice's last photos. So I am sitting down to write an update mainly with the intention of adding in lots of photos!
I have been meaning to write but there is always so much going on. In June I talked at a luncheon for 'Variety the Children's Charity'. Josh and Alice came with me to the lunch and both came up the front so I could introduce them to everyone. Alice was her happy, bubbly self and Josh showed everyone a fantastic picture he had drawn of Callington Mill, a local historical landmark. Everyone clapped for Josh and, his picture now hangs in the Variety office in Hobart. The premier of Tasmania, Mayor and about 60 others from Tasmania and interstate were at the luncheon - so it was very brave of Josh and Alice to stand up in front of them - I was SO proud!!!
I have included an exert from the talk I gave: "Disability is not something that anyone chooses. Disability is not determined by age, race, financial situation, political beliefs or any of the other markers we use to define our world, or our lives in it...
When I was pregnant with my first child, I knew from the very first who he was. And Josh is everything I imagined and more - gorgeous, funny, intelligent and creative.
When I was pregnant with my second child, at first I couldn't work out who she was, but by 6 months I new she was a girl and I new she was coming for a reason. She was coming to teach us something special. I hoped she would be an inspirational artist like Klimt, her father hoped she would be a famous sports woman.
Alice was born beautiful, healthy and strong. My world felt complete. Then at 8 weeks of age Alice had her first seizure. By 25 weeks of age she was having up to 30 seizures a day.
The Neurologist in Melbourne told us "It's like her brain's exploding, I don't know how she's survived this long" then he said "There's nothing we can do to save her - take her home to die".
Instead of telling the whole story (of a very long journey), I will just say that, in her own way, Alice let me know she didn't want me to give up on her, and I promised her I never would.
At about 2 years of age Alice was the 3rd girl in Australia to be diagnosed with a rare genetic condition called CDKL5. Cyclin-Dependent-Kinaise-Like-5 is an X-linked genetic disorder affecting more girls than boys, of no known cause - resulting in life threatening seizures, gastric dysfunction and severe intellectual and physical disability. Many of the children are peg fed (through a hole in their tummy), bed ridden, and regularly in and out of hospital. There are now 7 girls diagnosed with CDKL5 in Australia and about 200 children world wide.
Neither Mike or I are carriers of the condition, we have no family history of severe childhood illness or disability, I ate all the right foods, didn't drink or smoke and kept healthy when pregnant - Alice's illness and disability were totally unexpected, totally unprepared for and totally devastating for our family. I should also mention that we live on a farm outside of Oatlands (Southern Midlands of Tasmania), so Alice's illness and disability has meant the children and I have had to move to Hobart (Capital City) in order to ensure we can access medical care and therapy, while Mike stays at home to keep the farm running.
I have been meaning to write but there is always so much going on. In June I talked at a luncheon for 'Variety the Children's Charity'. Josh and Alice came with me to the lunch and both came up the front so I could introduce them to everyone. Alice was her happy, bubbly self and Josh showed everyone a fantastic picture he had drawn of Callington Mill, a local historical landmark. Everyone clapped for Josh and, his picture now hangs in the Variety office in Hobart. The premier of Tasmania, Mayor and about 60 others from Tasmania and interstate were at the luncheon - so it was very brave of Josh and Alice to stand up in front of them - I was SO proud!!!
I have included an exert from the talk I gave: "Disability is not something that anyone chooses. Disability is not determined by age, race, financial situation, political beliefs or any of the other markers we use to define our world, or our lives in it...
When I was pregnant with my first child, I knew from the very first who he was. And Josh is everything I imagined and more - gorgeous, funny, intelligent and creative.
When I was pregnant with my second child, at first I couldn't work out who she was, but by 6 months I new she was a girl and I new she was coming for a reason. She was coming to teach us something special. I hoped she would be an inspirational artist like Klimt, her father hoped she would be a famous sports woman.
Alice was born beautiful, healthy and strong. My world felt complete. Then at 8 weeks of age Alice had her first seizure. By 25 weeks of age she was having up to 30 seizures a day.
The Neurologist in Melbourne told us "It's like her brain's exploding, I don't know how she's survived this long" then he said "There's nothing we can do to save her - take her home to die".
Instead of telling the whole story (of a very long journey), I will just say that, in her own way, Alice let me know she didn't want me to give up on her, and I promised her I never would.
At about 2 years of age Alice was the 3rd girl in Australia to be diagnosed with a rare genetic condition called CDKL5. Cyclin-Dependent-Kinaise-Like-5 is an X-linked genetic disorder affecting more girls than boys, of no known cause - resulting in life threatening seizures, gastric dysfunction and severe intellectual and physical disability. Many of the children are peg fed (through a hole in their tummy), bed ridden, and regularly in and out of hospital. There are now 7 girls diagnosed with CDKL5 in Australia and about 200 children world wide.
Neither Mike or I are carriers of the condition, we have no family history of severe childhood illness or disability, I ate all the right foods, didn't drink or smoke and kept healthy when pregnant - Alice's illness and disability were totally unexpected, totally unprepared for and totally devastating for our family. I should also mention that we live on a farm outside of Oatlands (Southern Midlands of Tasmania), so Alice's illness and disability has meant the children and I have had to move to Hobart (Capital City) in order to ensure we can access medical care and therapy, while Mike stays at home to keep the farm running.
Life is a roller coaster for all families, but when you have a child who is seriously ill or disabled, the peaks and troughs of that ride are amplified ... Do you remember that feeling you get before the carriage starts its terrifying decent, when your heart stops and leaps into your mouth - that's the feeling I get every time I hear Alice stop breathing, at the start of a seizure.
But, we also have the highs, seeing Alice smiling down at me when I first wake in the morning, her eyes sparkling, and knowing we have another day together. Or when someones generosity makes Alice's life, our life, just a little bit easier.
That's why organisations like Variety are so very special, and so very important to so many people for so many reasons".
There was a little more to the talk but this is the bones of it. I love talking, I could talk under water and I am confident to talk both professionally and as Alice's mum, medically at genetics or biomedical conferences ... but opening my heart to talk about Alice's illness and how it has impacted on our family was really hard, I nearly cried a few times,but at least half the audience had a tear or two as well, so I think I got my message across!
Variety gifted Alice a specially designed body splint to help her learn to stand, and an Ipad to help develop her fine motor and language skills - so we are very grateful for the wonderful work they do.
I am off to another Biomedical conference in Sydney in August so hope to come back with more inspirational information and ideas .... and maybe another update!!!
Variety gifted Alice a specially designed body splint to help her learn to stand, and an Ipad to help develop her fine motor and language skills - so we are very grateful for the wonderful work they do.
I am off to another Biomedical conference in Sydney in August so hope to come back with more inspirational information and ideas .... and maybe another update!!!
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