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)
