Preparing Mia for
Neuronopathic Gaucher's News Contents
Gauchers News Contents
Mia was diagnosed with Gaucher disease Type 3 soon after her first birthday. Her mother Jo told their story at the Type 3 European Family Conference on 27 November 2004.
On 11 December 1999 Christian and I became parents of our tiny, vulnerable but healthy baby Mia. We were euphoric but seven weeks later our lives were turned upside down when Christian's mother suddenly died. I was deeply saddened as Sally and I had a special relationship but Christian's world fell apart.
However during Mia's first year before she was diagnosed with Gaucher Disease Type 3, we were a normal family with a healthy baby. I was getting used to the new, sometimes competitive, scene of mother and baby. Mia seemed much like the others, for sometime at least.
Symptoms started to appear
Then ocular motor apraxia was diagnosed as a result of Mia's unusual eye movements. We noticed them when she was nine months. I was not too worried, it did not seem like a big deal, interesting we were told.
And then she started to choke which was very frightening the first time. Throwing her over my knee and pummelling her back became part of the meal time routine. The doctors said that lots of babies choke but friends who witnessed it were shocked. I was beginning to visit our GP rather too frequently.
On the day she had her MMR jab after her first birthday, she panicked and choked in such a dramatic way that a GP was called. He said: 'I am really worried. This is not normal.' Our lives quickly began to change.
It was 20 December 2000 and an urgent appointment was made to see a paediatrician at St Richard's Hospital in Chichester. Having thoroughly examined Mia, he told us her liver and spleen were greatly enlarged and she would need further investigations. I was surprised he even felt her tummy.
Surely the problem was with her oesophagus as she was choking. We cancelled our ski-ing holiday with our two families and travelled to Southampton for a bone marrow biopsy the day after Boxing Day. Leukaemia was mentioned but thought unlikely as she seemed relatively healthy.
One of the doctors kept remarking how interesting her unusual motor skills were. We had also noticed she seemed stiffer in her upper body than other babies her age. It was an awful time as we waited two days for the results of the biopsy.
We waited anxiously for a call from the hospital. 'We have got to the bottom of it,' the neurologist on the end of the line said confidently. 'She has something called Gaucher Disease. It's a rare lethal condition. She is lacking an enzyme in her body. This accounts for her enlarged liver and spleen. This disease is responsible for her neurological problems.
'It's very serious and we don't know if she is treatable. This depends on the severity of her condition. Very severely affected children generally don't survive beyond two years of age. 'The treatment if applicable to Mia is expensive and you will need to get approval for funding which depends on the final diagnosis.'
He arranged an appointment for us with Dr Ashok Vellodi at Great Ormond Street Hospital. I sat on the floor completely dazed. Christian was inconsolable. We were in total shock. This was our first experience of that cold intense pain you feel in the pit of your stomach.
Great Ormond Street Hospital
It did not take long to find the Gauchers Association's website on the internet. Many of our friends and family had also located it and collectively we tried to diagnose Mia from what we could see on our screens.
When Dr Vellodi phoned to confirm our appointment, I pressed him to give us some positive news. We needed to hear she did not have Type 2. Understandably he could not give a diagnosis without seeing her first. We had to wait a day. It was agonising.
It was now 29 December and it would have been Christian's mother's birthday. I will never forget the drive to London with Christian, my father and little Mia. It sounds strange but I could not bear to look at her. I had not slept and had spent most of the evening throwing up. We were going to Great Ormond Street Hospital which one only read about in the papers or saw on TV. We would meet a consultant who would tell us whether our daughter was going to live or die within the next year or so.
Dr Vellodi took us to an empty ward. There were Christmas decorations everywhere. After he had thoroughly examined Mia, we all sat down. I could hardly speak and was shaking.
Dr Vellodi asked what we knew about Gaucher Disease. We were not ignorant but any communication from us was difficult because of our anxiety. He explained in detail about the disease and then started to talk about enzyme replacement therapy. I was not sure what this meant but if he was talking about treatment, surely she was treatable.
He then clarified she had Type 3 and did not envisage a problem getting funding. We shook hands and he left us after an hour consultation. Christian and I burst into tears. My Dad said that at least she was not going to die. I felt a mix of emotions. This was the best news we could have hoped for and I was grateful for that. However we were still shocked from the whole course of events and that our baby had a life-threatening illness.
Enzyme replacement therapy
Dr Vellodi obtained funding within three weeks and we had our first trip to St Richard's Hospital for Mia's infusion when she was 13½ months. Getting a line into her tiny veins was difficult and Mia's portacath was fitted shortly after. We were trained by a staff nurse called Melanie to give Mia her infusions ourselves. One year later we started the infusions at home.
The staff at St Richard's Hospital were extremely supportive. Melanie remains a friend and the transition from hospital to home was made smooth by the professional, personal and caring service provided by Genzyme Homecare. This helped to normalise our situation as much as possible which is so important for any family in a similar situation.
There are times when we have experienced intense anxiety through bringing up a child with a serious illness and feel we appreciate mile-stones which Mia reaches more acutely than parents of a healthy child. We take nothing for granted and never consider any achievement as ordinary.
The first time Mia walked at 20 months was such an emotional moment. When she first pedalled a trike aged 4½ this summer was equally special and reduced me and Mia's occupational therapist to tears. We witnessed Mia's cousins grab the television remote control and seen their competence at navigating their way through the channels at great irritation to their parents.
Mia has not been dextrous so imagine our delight when we entered the lounge to find she had turned on the television, made the correct channel selection and pressed play on the video player. I was thrilled at her achievement and independence but rather shocked by her choice of movie as she sat glued to Pulp Fiction.
Mia is participating in the trial to study if Zavesca can help the neurological problems of Type 3 children. She has been taking the pill for just over one year and whilst we were primed that it could be a challenging experience, we could not have imagined how stressful it would be for us as a family.
Mia had to go through all the pre-trial assessments including a visit to see Dr Chris Harris at Plymouth University for eye movement tests. We then had to wait to hear if she had been chosen to take the drug. We were delighted to hear that she would be taking it.
Now all we had to do was get her to swallow the pill: what an ordeal. With all the will in the world it is very difficult to get someone to do some-thing they don't want to do, especially when they are 4 years old. The staff at St Richard's Hospital again were wonderful. I dragged Mia with her baby sister Skye to the hospital every day for five weeks in order to encourage her to take her pill. The play specialist Jo and Melanie were patient and supportive but Mia did not want to play ball. She had bitten into the pill and it had made her vomit.
The pill is a capsule with the powdered drug inside. If she could swallow it whole, she would not taste the bitterness. It was normal for me to drive home in tears, our car laden with armfuls of art work, all painted by a grinning Mia. She was having fun but not taking the pill. I was tearing my hair out. Two days later we managed to persuade Mia to take the pill and she did so consistently to our utter relief. This highlights the importance of the nurses and in our case the play specialists.
One of the techniques we used during this pill taking charade, was to sing the national anthem before she downed the tablet. Every one became involved. Her father sang the Brazilian national anthem in Portuguese though I am sure he made up the words. My Dad's wife sang the French, we had a Turkish version an finally Elin Davies-Pope, the specialist clinical nurse at Great Ormond Street sang a beautiful rendition of the Welsh National anthem. By the end of the six weeks, I felt like I had completed a degree in child psychology.
Life has been challenging on the trial because Mia had terrible diarrhoea. We were grounded for four weeks as I could not risk taking her out. By now I was totally obsessed with Gauchers, Zavesca and national anthems. Now one year later Mia swallows her daily pills effortlessly and we have the diarrhoea under some control. We are eager to find out what Zavesca can do for children with Type 3 Gauchers.
Special educational needs
At the same time we were preparing Mia to start school in September 2004. The statementing process for her special education needs started in October 2003. We found it an intensive and negative experience. Our local education authority (LEA) was not sympathetic and initially offered her three hours support a day. This was inappropriate as she required full-time support.
We battled, and with the help of the schools head teacher who is the special educational needs co-ordinator, and numerous conversations, letters and emails to the LEA, we obtained full time support in school for Mia. We were delighted. She has been attending since September and loves it.
Mia's school is small, purpose built and holds about 80 pupils. I was concerned about educating the children about Mia and her condition. I visited the school on a couple of occasions, once to talk to the older children in assembly,about Mia and Gaucher Disease and once in the reception class with Mia when she was child of the week (see opposite for a description of what Jo said).
Life seems more settled now and more normalised than it was in recent years. Mia is a delight. She is beautiful, clever, affectionate and funny. We have a lovely healthy second child called Skye who is 18 months old and the girls adore each other. We have learnt to accept Mia's condition and to take each day as it comes, enjoying the moment. While we do not kid ourselves, we are and have to be optimistic about the future.
National Portage Association
We have benefited greatly from the National Portage Association, a home-visiting educational service offering support and advice to families with pre-school children with special needs. Someone visited weekly for about three years to help with Mia's co-ordination and cognitive skills such as cooking, threading, puzzles and blow football to help with her bad chest. They were creative and supportive.
For more information about this group, contact www.portage.org.uk or phone 01935 471 641.
Mia has been unlucky but we feel fortunate and appreciative that so many people are taking a genuine interest in Mia. Elin Davies-Pope, the clinical research nurse at Great Ormond Street Hospital, has been remarkable. One day she travelled over a hundred miles on her day off to talk to me and see Mia. She telephoned me and Christian daily and supported us through a tricky time. We would also like to thank Dr Vellodi, Tanya Collin-Histed, every-one at Great Ormond Street Hospital and the University of Plymouth, Mia's head teacher, the nurses at St Richard's and all those capable of singing the national anthem in their mother tongue.
Preparing Mia for
Neuronopathic Gaucher's News Contents
Gauchers News Contents
Source: Gauchers News May 2005.
Copyright © Gauchers Association 2005.