Tanya's Story: Coping with a Child with Chronic Neuronopathic (Type 3) Gaucher disease

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Tanya Collin-Histed is the Gauchers Association's representive for neuronopathic Gaucher disease and was presented with the Alan Gordon Memorial Award for her work and achievements in helping families with this form of the disease. She described her own personal story of challenges and opportunities at our 5th Conference in November 2001 .

'When you plan a family your thoughts drift to what your child will look like, hope they will do well at school, maybe go on to college or get a job and eventually settle down and have a family of their own one day.

'In reality this is not the pathway some children take and I believe the main focus is for them to be happy. This is what I want for my daughter.

'Over five years ago Maddie was diagnosed with Type 3 Gaucher disease. It felt like the bottom had fallen out of my world but as time has gone by I have been able to focus on her opportunities in life and the fact that she is happy and loves life as life loves her.

'These last years have been tough and full of challenges. They have changed my life and have made me see a different side to living. I never realised that there were so many children and families who have had their lives affected by illness nor the challenges they face and the struggle they have to go through to get what the majority of people take for granted.

'Juggling is the key; there is work, school dates, hospital visits, organising medical supplies, picking up prescriptions, applying for Disability Living Allowance, ad-ministering treatment, ensuring your child gets an educational statement, constantly ensuring that everyone your child comes into contact with is aware of the implications of her condition, keeping up with research, information, new treatments, the list is endless and if you have other children then that's a whole new ball game.

'Two major events I have had to cope with since Maddie was diagnosed have been getting her statemented and trying to overcome the trauma of administering her treatment.

Statement for Special EducationalNeeds

'The County of Hertfordshire is renowned for being tough on awarding statements for special educational needs. The first time I applied, when Maddie was in nursery, I was turned down and had to listen to officials who couldn't look outside their box system telling me that Maddie didn't need a statement.

'The truth was she didn't fit into any of their categories so it was easier to turn her down.

'Not defeated, together with Dr Vellodi we organised a meeting, got professionals together and made a case for a statement. Eventually they agreed and offered me seven hours a week which Maddie's school insisted I accepted as it was more time than any other child in the school got.

'I decided that when I added up all of the units of time needed to cover the various subjects, I wanted 15 hours so I requested a meeting with the Area Manager and went in with a clear breakdown of the time I felt Maddie required. After realising that I didn't want one to one care for the entire time Maddie was at school, he agreed and I came out with the 15 hours.

'I must also point out that due to the lack of knowledge and understanding of my daughter's condition, I had to re-write 90% of Maddie's statement. I feel very sad about this because although I got what I wanted, many parents may not be so strong and have the support I had and their children may end up with insufficient support to access the national curriculum.

'I am aware however that other families have had good support from their local educational authorities.

Administering Treatment

The other big struggle for me was trying to overcome the trauma of administering Maddie's treatment. Maddie has had treatment now for 5½ years and only in the last 10 months has it become less of a nightmare.

'I remember that when she was first diagnosed she hated having treatment and would kick and scream and cry. I hated it and my only comfort was that everybody said that as she got older it would become easier. Well it didn't, she assaulted me, punched a few nurses, reduced community nurses to tears, had to be restrained by two or more adults and finally ended up with a play therapist coming to the house each time to assist.

'I often ended up in tears at the bottom of the garden. I hated myself for inflicting pain on my daughter but knew it had to be done and felt that it was my duty to administer her treat-ment, not doctors or nurses. Finally we both went to see a therapist at Great

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Tanya's Story: Continued

Ormond Street Hospital but I couldn't handle it. They wanted to rake up the past which I felt was too much to bear and eventually I stopped going.

'In the end I just had to be hard. I persevered and the birth of my second daughter seems to have helped.

'Today Maddie still sometimes refuses to lift her arm in the air so I can access her portacath for infusion but time, blackmail and the threat of upsetting her sister seems to work.

Wrapping her in Cotton Wool

'One of the hardest things for me has been struggling with wanting to wrap Maddie in cotton wool versus letting her cope with the challenges life has in store for her. Some of the things that come into my mind are:

Before she was statemented I received at least one accident report from school each day.

I remember watching her desperately trying to ride a bike without stabilisers. Even today this is still a real challenge for her and I must admit I wouldn't want to be on the road when she is.

Most mornings I see her being pushed and bumped around when she goes into the school classroom.

And I remember the deter-mination on her face one day in the school playground trying to co-ordinate herself to do hopscotch with her friends. Determination is a word I associate with my daughter.


'Although life has been pretty tough at times it has also been full of opportunities. Maddie's condition has made me a stronger person. I now know what is important in life and my whole outlook has changed. I have had my eyes opened to the education system and the benefits agency and know that nothing in life is free.

'I have been lucky enough to travel and meet other families whose lives have also been affected. I have made many friends in the UK, Europe and throughout the world who have become a part of my life. Their experiences, support and friendship have made things easier to cope with.

'Coping with a child who has Type 3 Gaucher disease has been and always will be tough. As each barrier is lifted, another one appears, whether it is retaining educational statement support or trying to answer the many questions or statements Maddie throws at me like: ''I don't want my treatment anymore'', ''I don't want to be different''. or ''None of my friends have treatment''.

'A few weeks ago I was putting Maddie to bed and she was changing into her pyjamas. She suddenly rubbed her scar which reaches all the way across her stomach: her scar was from an operation to remove the majority of her spleen when she was diagnosed.

'She gripped her fists, gritted her teeth and shouted: ''I don't want to be different Mummy, I hate it, my friends always want to know what is wrong with me, I hate being different.''

'For a while I consoled her like a baby in my arms and tried not to cry. These are the times I find it difficult to control my emotions. It is easy to say you are not different but it is not me who has to cope with this illness everyday.

'Speaking here today at the Gauchers Association's Conference was not part of my dream when I was planning my life but I am so proud to be here and being part of this family.

'I would like to take this opportunity to thank all the other Type 3 families, my family, Susan and Jeremy and of course my friend and Maddie's consultant Dr Vellodi for all their support, kindness and help over the last five and a half years.

'But most of all I would like to thank Maddie for coming into my life. She is my inspiration, she makes me laugh, she makes me cry but above all she has made me realise that life is for living. So: live for today, celebrate yesterday and cherish tomorrow.

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Source: Gauchers News March 2002.
© Copyright Gauchers Association 2002