Living with Type 3 Gaucher's Disease: Maddie and Tanya's Story

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Maddie was born on 22 September 1994 and until she was 15 months old she did not even suffer a cold. But in December 1995 everything was to change. Her mother Tanya tells her story:

When Maddie was 15 months old in December 1995, she became very anxious. Her moods varied between short bursts of happiness to periods of crying, obvious discomfort and the fear of being left alone which seemed to distress her immensely.
A death in the family had affected us all and I really thought Maddie had sensed our sadness.

She had also picked up a cold and an ear infection due,  I thought, to it being winter and her being with other children. Looking back now at photographs of her the previous October and over the Christmas break, I can see how pale and ill she looked.

I know it would not have made a difference to her illness but I still feel guilty that I did not notice something before.
On 2nd January I spent the last day of my Christmas break with Maddie before I went back to work. All day Maddie seemed distressed and clung to me. It was almost as if she was trying to tell me something. That night we took her to an emergency clinic at our doctors: by this time I knew something was not right but I really was not prepared for the events that followed.
Maddie's doctor was not on duty and the doctor we saw asked if we could bring her back the next morning to see her regular doctor.

We returned early the next day and her doctor agreed that Maddie looked very pale and had definitely deteriorated over the last ten days since he had seen her to treat the cold and ear infection. She sent us straight to the local hospital in Watford for some blood tests.

The Bottom Fell Out of My World
The next 24 hours were a blur which changed my whole life forever. The bottom dropped out of my world: I felt so helpless, guilty and alone. Maddie had blood tests, a stomach scan and X-rays. The scans revealed an enlarged liver and spleen and her blood count was very low. I spent that night with Maddie in the hospital.

The next morning my husband and I saw the paediatric consultant who told us that Maddie had a problem with her bone marrow and that she either had a cancerous tumour or more likely that she had leukaemia. We were then told that Maddie would have to go to Great Ormond Street Hospital in the next few days for a bone marrow test.

That night Maddie had her first blood transfusion and I held her all night in my arms. I felt totally numb: I looked at the little girl in my arms and felt an immense pain in my heart.

Our day at Great Ormond Street Hospital was very distressing. The oncology (cancer) ward had a feeling of sadness, pain and silent determination about it. After the bone marrow tests, we waited for hours before being seen by the consultant. Those hours were indescribable.

We were told that Maddie did not have cancerous cells in her bone marrow but there was something there. We were introduced to Dr Vellodi who explained that he thought that the cells in Maddie's bone marrow were Gaucher cells and that further cultures (tests) had to be taken. The journey back to Watford Hospital was full of unanswered questions.

A week or so later and after several trips to the hospitals concerning Maddie's breathing and suspected pneumonia, we were admitted to Great Ormond Street Hospital on 19 January.  What followed was one big nightmare, one that I would not be able to wake up from. I stayed with Maddie in the hospital for 5 weeks.

I slept in the mothers' accom-modation in a bunk bed and I was on the ward from 8.30 in the morning until 10 or 11 o'clock at night. During her stay in hospital, we learnt more about Gauchers disease and the different types, its treatment and what problems Maddie could have in the future. She had test after test, needle after needle, examinations, scans, x-rays and lots more. She was 16 months old, very ill and so innocent. I felt so much pain, anger, guilt and helplessness but most of all I felt so alone in the world.

I think the worst day of my life and the first time I cried in front of the nurses and doctors was on 2 February when Dr Vellodi told us that Maddie had Type 3 Gauchers disease. I sat in that room with my husband after the doctors and nurses had gone and we sat in silence unable to speak, not knowing how to feel. I can't explain the intense pain that I felt inside; it hurt so much, my whole body ached.

Partial Splenectomy
On 6 February Maddie had a partial splenectomy, a liver biopsy and a portacath fitted. Leaving her in that operating theatre was indescribable: that was the only time I was not there for Maddie.

After her recovery on the surgical ward, we finally got word that Maddie's request for funding for Ceredase had been approved and she had her first infusion on 16 February 1996. We took Maddie home on 24 February.
I eventually went back to work in April 1996 and Maddie went back to her childminder.

Relationship Fell Apart
My husband left a month after we came out of the hospital: the strain of what had happened was so immense that our relationship fell apart. The fear of losing something so precious, the thought of the pain she had experienced and the guilt of the illness of someone so young was too much and like many relationships when there is a sick child, ours did not survive.

I now bring up Maddie on my own. I do all her infusions at home and I try to provide her with a loving and stable life. Maddie is a very bright, infectious little girl who loves life and has a lot of people around her who love her including her father who sees her on a regular basis and with whom she has a very close relationship.

She started playgroup in September, goes to toddler gym and her smiles and unconditional love melt my heart and bring a tear to my eyes every day.

Response to Treatment
Maddie has responded very well to Ceredase. She is still very small for her age and has problems with her co-ordination and balance. Her eye movement associated with Type 3 has become more noticeable and one of her feet has begun to turn inwards. I don't know what the future holds for Maddie but she is happy now and that is what counts.

My pain will always be there but she is a ray of sunshine
Living with a child who has Type 3 Gauchers disease is very hard. I cry at the oddest of times. I still feel alone and I know that the pain will never go. I get upset and very worked up about going to Great Ormond Street Hospital: each test may reveal something else. I try to be positive and with medical breakthroughs, who knows what tomorrow will bring.
My family and friends have been of tremendous support to me. Without their shoulders to cry on and the time that they gave me just to listen, I do not know if I would have made it this far. My special thanks go to my mum and dad who have been there for me even through their own pain.

I am definitely a stronger person, although my pain will always be there. Each day I look at Maddie and I am so proud of her. She is a ray of sunshine in my life and today is today and tomorrow, well tomorrow we will deal with when it comes.

Editor's Note: I would like to thank Tanya for telling Maddie's and her own story so frankly and touchingly. If you have a story you would like to share, either on Type 3 or on Type 1 or 2, please send it to me for publication.

Neuronopathic Gaucher Disease

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Source: Gauchers News November 1997

© Copyright Gauchers Association 1997