Words that inspire!

I wanted to share some words that are meaningful to me - words that friends have shared, words that inspire me.

This is a photo of Alice and I in the garden. The song "I saw what I saw" is on an album called "Tell me what you know" by Sarah Groves - it was given to me by a special friend who said she always thinks of Alice and I when she listens to this song.

(Thanks Shaelene xxx)

*** See YouTube link, left side of site, to hear music ***

This is a photo of Alice. The song "Beautiful Child" is on an album called "Station Wagon", also by Sara Groves - given to me by another wonderful friend, at a time when Alice was very sick and I needed it most. (Thanks Sharynn xxx)

*** See YouTube link, left side of site, to hear music ***

I collect Quotes.

Only ones that are relevant and have meaning to me.

My favourites are here to share.

"Success is never final. Failure is never fatal. It is courage that counts" (Sir Winston Churchill)

"You never know how strong you are until being strong is the only choice you have"

"Aspire not to have more but to be more" (Oscar Romero)

"Attitude is a small thing that can make a big difference"

A quick update

A photo of Alice standing tonight.

A photo of me lighting a candle in the Duomo, Florence, Italy - for Alice XXX

It has been a long time since I last wrote in Alice's blog. I thought I should give a quick update of where we are at. Since I last wrote, there have been many changes and there are still many more to come including: Alice's progress, diet and seizure activity.

I went to a BioMedical conference in Sydney and met some wonderful people who have become involved with the finer details of Alice's diet and supplement regime (See www.mindd.org for an amazing look into BioMedicine and its importance in the treatment of ASD and other genetic based disorders).

Then I went to a genetics conference in Milan, Italy - I went hoping to meet someone who could help me find answers for Alice .... I sat with some of our worlds leading scientific and medical minds in relation to genetics ... I stood up in front of them with a microphone, having my questions translated into half a dozen different languages, and I talked about my Alice, discussed my theories and asked questions (I was so nervous I didn't know whether to pass out or vomit!)... I met the German Geneticist who discovered the CDKL5 gene. I met other scientist who were genuinely interested in what I had to say, I have contacts from all over the world who will help, in any way they can; people who are inspired to make a difference. It was one of the most amazing experiences of my life. I also hugged mothers who were strong enough to go on after watching their child die in their arms, and mothers strong enough to fight against; a medical system that is failling our children, or governments who only offer token support for health issues that affect so many children around the world - I was inspired - these were people with passion like I have never known before - amazing people who give real meaning to 'life'.

So, now I want to say a quick Thank You, to some wonderful people with incredibly generous and giving hearts, who put a little sunshine in my life; Kelly who looks after my beautiful horse who I have only been able to ride twice in the last 3 years, Lisa who left her own babies to be my 'strength' in Italy ("How you doin"), Ffion who sings, those special people who drop gifts at my back door, mow my lawn or bring a meal to the door some nights when I feel like crying at the thought of cooking, the doctors and therapist who answer my text messages in the middle of the night and will be by my side even when I don't ask, the friends who understand when it takes me two weeks to get back to their phone message or understand why I have not called them, then there are all those special friends from around the world who know just what to say at just the right time - you are wonderful and I love you! X N

Alice's diet!

Currently Alice's diet is: Dairy free, gluten and soy free, free of artificial colours and flavours and... we have to be careful with just about everything else she eats. Red meat makes Alice vomit, peas turn her bowel motions to liquid acid and apricots send her seizures out of control (to list a few). Testing has highlighted dairy as a food Alice will probably never tolerate (it's like giving her arsenic) but, hopefully, as Alice's gut health improves she will be able to tolerate a wider range of foods.

Alice is able to eat: chicken, fish like ling and sword fish, rice, fresh fruit and vegetables (carefully chosen) and breads, muffins, biscuits etc which I make at home.
Alice's diet is rotated; even foods which she can tolerate are reacted to if she eats too much of them.

Alice's diet is low in salt (we use Celtic Sea Salt in some cooking).
Alice drinks LOTS of water - Natural Spring Water ... not tap water with Chlorine and other toxic chemicals in it.
Alice also drinks broth - usually made with chicken bones - she loves it and it is rich with nutrients!

We are considering the GAPS diet (Gut and Psychology Syndrome) as it has been successfully used as a gut healer. Enabling people with allergies/intolerance's to eat a wider range of foods.

I think it is also important to mention that I am a Speech Pathologist with a 'special interest' in swallowing and meal management AND I always consult with Alice's Dietitian and Doctor, and other nutrition specialists, when making any changes to Alice's diet and supplement regime; to ensure optimum health and nutrition.

Supplementation - What and Why?

Alice’s Supplements
* Flora Care for Kids – Probiotic for gut health
* Floradix with Iron – Multi vitamin
* 5HTP – Precursor of the Neurotransmitter Serotonin
* Calcium – Important for cell physiology
* DHA/EPA – Essential fatty acid: For brain and eye function and intellectual development
* Melrose Greens – Phytonutrients
* Cal Four – Calcium, Potassium and Magnesium
* L-Glutamine – Energy source for the cells of the intestinal tract and the immune system

* D 5000 – Vitamin D is important for cell growth, immune
system, nervous system and more
* Energetic Drops – Integrative Medicine
* Digestive Enzyme – To assist digestion

* CoQ10 - Antioxidant and nutritional support for heart function

These supplements may change - as we discover more about Alice's health and requirements; to provide maximum benefit and nutritional support.

We need to find answers

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.

Doctor's Report

Alice DOB 11.2.2006
Alice is the second child of Nicole and Michael, and is one of only three female children diagnosed in Australia with CDKL5. This is a rare genetic condition with no known cause or cure. Alice’s prognosis is one of ongoing intellectual and physical disability, severe gut dysfunction and uncontrollable seizures, which are reported to be the most likely cause of a premature death.

I would like to present a succinct summary of Alice’s life thus far.

Alice was first thought to have developed seizures at 8 weeks of age. On presentation her symptoms were as follows:-
· Staring episodes associated with blinking eyes
· Rigid body and jerking movements
· Arching of the body
· Head lag
· Colic

In May 2006, at 13 weeks of age Alice was transferred from Hobart, Tasmania, Australia to the Royal Children’s Hospital in Melbourne, Australia, under the care of Dr Simon Harvey, Director of Children’s Epilepsy Program (RCH) Children’s Neuroscience Centre.
Alice had the following investigations:-
· MRI scan - normal
· Ophthalmological investigations - normal
· Video EEG - confirmed seizure activity
· Metabolic tests

Alice returned to Tasmania on a cocktail of medication: phenytoin, omeprazole, midazolam, and the formula Neocate. She returned to Melbourne in August for further intensive investigation which included samples taken for: glucose lactate, pyruvate and amino acids. Samples for protein and CSF neurotransmitters were also done together with bloods for UEC, LFT, B12, folate, VLCFA, mtDNA, and poLG. Skin biopsies were taken for EM and fibroblast culture and, a urine sample sent for amino acids and organic acids.

There were no clues as to the aetiology of Alice’s seizures from the history or examination, and at this stage Alice appeared developmentally normal. There was no evidence of an under-lying cerebral abnormality or metabolic disturbance. It was stated that Alice’s case was very difficult, and she was discharged home. Alice developed increasing hypotonia and gastrointestinal disturbance. She did not feed well and had intermittent coughing and spluttering that correlated with her drowsiness. She had foul smelling bowel motions and straining, often associated with increased seizure activity. Further investigations followed which are too numerous to list in this short summary. Alice was commenced on more medication in August 2006. By this stage Alice’s mother, Nicole was convinced there was a connection between Alice’s seizure activity and ongoing gut disturbance.

Nicole initially presented Alice to my sister, Dr Jane Chapman in October 2006. It was clear that Alice needed intensive investigation for her brain-gut connection dysfunction. Alice had numerous investigations including hair tissue mineral analysis, whole blood copper levels, whole blood zinc levels, food IgG antibody levels, and faecal microbiology investigations. Other investigations included amino/fatty acid blood tests and a range of conventional blood tests, resulting in numerous abnormalities being reported.

By May 2007 I was treating Alice with numerous nutritional supplements. I suggested a consultation with Dr Jacques Duff may be of assistance and Nicole and I went to Melbourne to attend a weekend lecture regarding the brain-gut connection where he was presenting. At this time Alice was having up to 30 seizures a day, awake or asleep, accompanied by screaming, especially when she was starting to come out of a seizure or attempting a bowel motion. Alice experienced extreme straining at times when passing stools; which were often jelly-like in consistency, putrid foul smelling, marbled black/green containing mucous, and often occurring directly before or after seizure activity.

Alice was assessed at the Austin Health Comprehensive Epilepsy Unit by Professor Ingrid Scheffer (Paediatric Neurologist), and it was decided that her epilepsy was likely to be a generalised process without a surgically amenable focus. The Ketogenic diet was discussed, according to Professor Scheffer’s advice, with the Ketogenic Diet Team and it was decided to commence this diet.

By November 2007 Professor Scheffer had completed a thorough assessment of Alice. By this time Alice has undergone 3 MRI scans which were all normal. Alice was now 21 months old and Professor Scheffer thought there was a genetic basis to Alice’s disorder. Rett Syndrome features were identified, although Alice did not have all the typical features.
It was discovered that testing for CDKL5 could be sourced through the United States. Epilepsy genetic researchers helped facilitate this investigation. Further exploration of the possibility of surgery was discussed but seemed extremely unlikely as numerous EEG, MRI studies, and PET scans showed no focal features to suggest a lesion in the brain that could be resected.

The Ketogenic Diet was adhered to thoroughly by Nicole; however there was no improvement, in Alice’s condition, on the diet. By May 2008 Alice had commenced on a wheat and dairy free diet, with ongoing supplements, and was becoming more alert and interactive.

At age 2 ½ yrs Alice was having 1 seizure a week. At that stage there were no bowel problems and Alice was on a number of specifically selected supplements. At 2 yrs 8mths Alice was on a diet excluding yeast, soy, gluten and dairy, and avoiding artificial colours and flavours. Her well being was improved with rare vomiting. Alice looked happier and healthier and her weight was 13kg. Supplements Alice was taking included Calcium, Multi Flora, multi-vitamins and 5HTP. Alice’s emergency medication was midazolam, given by intranasal or buccal administration only for clusters of seizures or seizures with breath holding or of increased duration.

At this time a laboratory result from Paris showed Alice had a likely mutation of the gene CDKL5. This gene has only been found in the last 4 to 5 years; therefore the future of Alice’s condition is unknown. The risk of death with this type of epilepsy is understood to be at least 25% mortality by age 20 but the figures specifically are unknown as there are only 60-70 children diagnosed worldwide.

I received correspondence from Professor Ingrid Scheffer in April 2009. Alice is now 3yrs 2 mths old. She is making definite developmental progress and had an amazing 211 days without seizures until March 2009. Her seizures have reoccurred which Nicole attributes to a slight change in Alice’s diet. Alice was having almond meal, wheat and dairy and had 5 seizures in the week beginning 23 March 2009. Since then these allergens have been removed from her diet and Alice has had one or two mild seizures per week. Alice’s bowels are not yet as regular as in her seizure free period.

Alice remains on no anti-epileptic therapy. She is on a variety of treatments including Calcium, Multi-flora, multi-vitamins, 5HTP, doses of pure fish oils and amino acids.
Alice has a de novo change as neither Mike nor Nicole carry the gene mutation found in Alice.

Nicole will attend a conference in Milan in June 2009 on CDKL5 disorders. Nicole has found that generally all the children suffering from CDKL5 disorder have gastrointestinal difficulties.

Alice now weighs over 14kg, is crawling and is nearly able to stand. Alice is also starting to use her hands more functionally.

I look forward to watching and assisting beautiful Alice’s progress through life.

Dr Sally Chapman
MBBS, FRACGP, MACNEM
7 May 2009

A Healthy Approach

A quote which has always stuck in my mind comes from a doctor friend of mine who said “The worst thing about disabilities is … too many children have disabilities because they are misdiagnosed and mistreated early on, their disability is exacerbated by or, is a direct result of this early intervention”.

I have a story to tell which to begin with may sound familiar to some of you. This is a story about my struggle to save my sick child.

My daughter Alice has just been diagnosed with CDKL5. CDKL5 is a rare genetic condition where children, mainly girls, have severe uncontrollable seizures and their prognosis is one of physical and intellectual disability, with minimal expectation of walking or talking, increasingly severe seizure activity and long term gut dysfunction. Death resulting from a seizure is a constant fear for us. At 25 weeks of age we were told Alice was going blind and dying. She was having 30 seizures a day, she was so heavily medicated that she was unresponsive to stimulus and only woke to have seizures. She couldn’t drink, she vomited constantly, and she was chronically constipated. I asked the doctors ‘What’s the balance between stopping the seizures and Alice’s growth, development and quality of life” they told me “There is no balance – it’s about stopping the seizures” – they didn’t seem to understand that the seizures were getting worse under their care. Alice’s seizures were described as “It’s like your baby’s brain is exploding” “Take her home to die – there’s nothing more we can do”. That’s when I realised I had to trust my own instincts and take a more proactive role in the decisions about my baby’s life.

Alice is now 3 years old. Alice doesn’t take any anticonvulsant medication. Alice hasn’t had a seizure in over 200 days, she’s learning to crawl and walk, and she loves to play with her big brother and all her friends, she smiles, she laughs. Alice is physically and intellectually delayed (I say delayed, not disordered, because we haven’t finished yet!) but her development, especially over the past six months is, to all, astonishing.

As parents there are always challenges to face and decisions to make but, to be faced with the death of your child can force you to make decisions you would never have thought you could make – especially when it comes to choosing alternative therapy in an effort to save your precious baby’s life. This is a decision many health professionals might call irresponsible and unethical, BUT Alice is one of those ‘rare cases’ that no-one knows what to do with, medication made her seizures worse – I believed there had to be an answer … I just had to find it. My intuition as a mother told me there was a link between Alice’s sensitivity, her digestive system and gut function, and her brain (thoughts which aren’t reflected in current medical thinking) – I needed help to find the answers.

I put together a team of professionals whose judgment and knowledge I respected and who gave me that same courtesy in return. This team is headed by Alice’s doctor who has studied Nutritional and Environmental Medicine, I call her ‘my second head’ as she will come to conferences with me and answer my endless questions (Alice is also under the care of a Neurologist and Paediatrician who provide advice and assistance and, are well aware that Alice is not on medication).

I have written this article to share our experience with those of you who might find our approach interesting. I do not advocate this choice as the best or only option. This approach appears, at this stage, to be working for us - but all children are different and what works for one may not work for another.

As I said, I have always believed that Alice’s system is highly sensitive. As a baby Alice would have a seizure at the slightest noise or temperature change, movement or touch. Alice suffered from severe reflux and chronic constipation, and she was highly sensitive to touching anything, especially with her bare hands and feet – she couldn’t stand being tickled. Alice now laughs at loud noises, her bowels are regular, she rarely vomits unless we trial the wrong food, and she can’t wait to get her bare feet onto the ground, especially when its grass or sand.

De-sensitisation:
That’s the key. I had a sick child and I was making her sicker by, turning down the lights and keeping her environment quiet (to minimize the risk of causing a seizure), keeping her small cold feet rugged up and, by giving her medications to stop the seizures, that only exacerbated her seizure activity and her constipation. I believe Alice’s constipation, reflux, vomiting, and tactile sensitivity are all due to a system that is too immature and oversensitive to cope with the stimulation of life. So my goal has been to de-sensitize and strengthen Alice’s system – inside and out.

I have worked intensively on a model of de-sensitisation – both internal and external. The program I am currently providing for Alice has been tweaked and refined until I have found it of maximum benefit to her. Alice’s program is not fixed, I am always looking for additions or improvements but for now our approach appears to be working.

Gut Function:
Alice was tested as having severe food intolerances including dairy, soy and gluten. Alice is on a strict diet with: NO dairy, soy, gluten or yeast. Other high allergen foods are also avoided or minimized. New foods are introduced slowly one at a time and it is easy to now see which foods she has reactions to. Alice will come out in a rash on her face, vomit excessively, and have loose bowel motions within 24 hours of introducing new foods which irritate and upset her gut (eg Almond meal – which has been trialed more than once with the same reaction).

Alice is on a program of supplementation (under consultation with her doctor) including:
(a) Learning Factors (BIOCeuticals) – A supplement rich in Amino Acids and Nutrients
(b) 5- Hydroxy-Tryptophan (Thorne Research) – It works like the neuro transmitter Serotonin, which is necessary for brain and gut function
(c) Meta EPA/DHA liquid (Metagenic) – A high purity fish oil
(d) Floradix for Children (Salus-Haus) – A multi vitamin
(e) Natural Calcium (Life Stream) – For bone development etc (Non dairy diet)
(f) Multiflora (Orthoplex) – For healthy gut function
The aim of this diet and supplementation regime is: To decrease sensitivity reactions and promote and develop healthy brain and gut function – for optimum performance and progression.

Physical Therapy:
Alice was always too sick to be involved in regular therapy; many sessions were cancelled or discontinued early due to Alice’s health. As her overall health improved, mainly due to the better functioning of her gut, Alice became more regularly involved in daily therapy.

Alice has an Occupational Therapist and an assistant, who use sensory integration principles and neuro-developmental techniques to help with her functional skills; including movement, posture, play and feeding.

Alice’s Speech Pathologist works on a receptive and expressive communication system including the use of photos and picture symbols for communication.

Alice participates in a weekly ‘Rhythmical Massage’ (Rudolf Steiner/Dr Ita Wegman) session to assist in “overcoming imbalances caused by stress and illness”. Alice has also been involved in other therapies including work with; a Naturopath, Osteopath, Energetic Medicine and others.

Alice attends an Early Special Education program where she is supported by a special education teacher and other professionals.

Alice is also involved in everything her 4 year old brother is involved in (within reason), she lays on the grass with her shoes off, she swings at the park and gets knocked over in the playground – exposure to the ‘everyday’ has helped Alice to be not so reactive to it … it’s just life – and she loves it!

I know I don’t have all the answers but for my Alice I need to try (no one else has the answers for us!). CDKL5 is not a diagnosis any parent would want for their child but I believe I can choose to see that diagnosis as a negative or a positive – I see it as a positive. This diagnosis gives me a list of goals to work on, it helps me focus research and investigation. There are so few diagnosed cases of CDKL5 that I don’t believe I should be blinkered by the limitations and difficulties listed in its diagnosis, or believe the prognosis is only one of severe illness and disability. I believe that much of Alice’s intellectual damage was caused by unethical and inconsiderate overmedication of toxic proportions, and much of her physical damage has been caused by the severity of her seizures. So by helping Alice’s gut to function healthily, by stopping the seizures and providing as much sensory, physical and intellectual stimulation as able, then I’m offering Alice the best chance to reach her potential (whatever that is) - that’s all any parent could want for their child.

Nicole (Revised March 2009)