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Madeline's Story
Living with Children's Gauchers Disease
by
Tanya Collin-Histed
My story begins four and a half years ago. On Thursday 22nd September, 1994, I gave birth to my daughter Madeline. She was a healthy 8-lbs. 13.5 oz. I went back to work three months after she was born and she was cared for by a childminder. Family life carried on until early January 1996 when Madeline was taken ill and diagnosed with what was thought to be cancer or leukaemia. She initially presented with a swollen abdomen and a very low blood count. Further tests revealed the presence of an unknown substance in her bone marrow, and we were then told that she might have Gauchers Disease. Since that day three years ago my life has never been the same. Nothing prepared me for what I face ever day. What was Gauchers Disease I wanted to know? I received no answers and was told to go back to my local hospital with my sick daughter and wait for the tests to be completed. I was then told the hospital would contact us in ten days or so. I am an intelligent person so I went to the library and looked it up; 'Death within a year, brain damage' were the words that came back at me from medical books. At that point in my life I wanted to run away and hide. I felt numb, totally alone and the pain inside was almost unbearable. How was I going to cope, why had this happened, what had my innocent daughter done to deserve this? Eventually the test came back, and it was confirmed that she had Gauchers Disease. Madeline was once again admitted to Great Ormond Street Hospital for more tests and a partial splenectomy. One thought that continually nagged away in the back of my mind was why had I not seen how poorly my daughter was. Her paleness, her swollen abdomen, the guilt and the thought of her suffering and not being able to tell me was very difficult to erase from my mind. Even today when people asked me how she presented I feel guilty that I did not realise something was wrong sooner. Madeline was very poorly and I had just entered a world totally alien to me. Her stay was full of tests, tests and more tests. Our stay lasted for six weeks. I remember arriving on the ward every morning at around 7:30 a.m. and leaving every night at around 11 PM. It became a routine similar to so many other parents I slotted in. I will never forget the day the doctors told me she had Type 3 Gaucher Disease. This was the first time I really cried. Not only do you have to cope with your own pain but also I had to tell my family. My father had just lost his father a month before, and my grandmother had just been diagnosed with breast cancer. Telling my father was one of the hardest things I have ever had to do. I destroyed a big part of him that day, and the guilt was tremendous. My family is very supportive. Even through their own pain, they have been there for me. Without them I don't know if I would have got this far.

The pain and the anxiety were further increased in our application for funding for enzyme replacement therapy. Madeline's paediatric consultant at her local hospital was not very supportive, and I later found out that he had said that treatment was a complete waste of time and money as she wouldn't survive anyway. Eventually, through a lot of involvement from her consultant at Great Ormond Street Hospital the news came that funding had been approved and a date was set for her first infusion. I remember where I was when I heard the news. Don't get me wrong, I was so relieved and grateful but I knew that I was in one big nightmare and there was no way out. I continued to feel numb, I still do today. We were lucky enough to receive funding for ERT; a drug, which I think, has given my child a chance at life. When Madeline was diagnosed I was married to her father. Soon after we left the hospital in late February 1996, my marriage fell apart and he moved out. We were divorced in August that year. The terrible strain of discovering that Maddie had a chronic illness was too much, we stopped talking, and the pain and guilt inside us both was unbearable. All we could do was survive. Our natural instincts told us to shut down and just function. I am very sad about what happened, however today Madeline has a very close and loving relationship with her father. For the next year or so I survived and brought Madeline up on my own. Several months after Madeline was discharged from hospital I went back to work. Returning to work was a very difficult decision for me to make. I wanted to wrap her up in cotton wool but at the same time I needed an escape, I needed money to pay the bills, and I needed something to focus my attentions on apart from what was happening in my life. Looking back today I can see that had I not gone back to work, myself and Madeline wouldn't be the strong people we are today. That isn't to say things have been easy working full time and bringing up Madeline, but I am a better, stronger and more positive person for it. My work is my rock, something I created and something I am good at, the only thing in my life that I have not failed at. Madeline continues to regain her strength. She is an amazing little girl, full of love, laughter, a determination to succeed and a courage that precedes so many. These children experience more in their early years than most people do in a lifetime. She doesn't complain and lives life to the fullest, compensating at an early age for her disabilities.

Today she is four and a half and attends main stream nursery school. Type 3 Gauchers Disease sufferers have a gaze palsy, which means that they have a horizontal (sometimes also a vertical) eye movement problem. This means that if they follow something with their eyes then their eyes lock, and they have to blink and flick their head to unlock them. This creates numerous problems for them in an educational environment i.e. reading, writing, doing puzzles, playground activities and general safety and awareness in the classroom. Well-informed teaching staff can manage all of these issues and we are currently trying to get Madeline statemented. Once statemented, this will enable the school to call on more resources to assist her in her learning e.g. additional help in the classroom, a reading board. Madeline is fully capable of carrying out tasks however her eye movement restricts her awareness to situations around her and slows her down. Statementing children with rare disorders can be extremely difficult. Teachers are very unaware of these children's needs and a disease like Gauchers Disease, which is rare and unpredictable, does not fit neatly into the boxes on forms. Unfortunately parents of children with other rare disorders are in the same position and have to fight a constant battle to ensure that their children are given the necessary help to have a chance at life. Madeline's eye movement also means that she can not cope in very busy/crowded areas like the shopping centre or school playgrounds. In these busy areas where there are lots of things going on, she panics and either has to be carried, or put in a buggy, and avoids going out to play with her friends. I would say that Madeline has a good quality of life, certainly much better than I ever thought possible in those early days. She gets tired and yes I am worried about how she will cope with a full day at school. She has bone pains and struggles to walk a long way or cycle on her bike, but she is happy. She loves life and life loves her. She is my ray of sunshine, she makes me cry but most of all she makes me proud to be her mother.

I don't know what the future holds in store for my daughter, who knows what tomorrow will bring? Madeline continues to cope with her illness and I continue to cope with life. In coping with life I have recognised that there is very little publicity, research and information about type 3 Gauchers Disease. I am currently working with Gregory Macres at the Children's Gaucher Research Fund, and other families and professionals around the world to raise the profile of the disease, improve communication between families and professionals, and encourage new research into the disease. It is a huge task and I know it will take time and a lot of energy, but together I believe that it can be achieved. I am just a parent who wants to be able to give my daughter a chance at life. I am no different to any other parent, I just have a bigger battle to fight.

Tanya Collin-Histed
Watford, England




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