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On Saturday 5 September 1998 Tanya Collin and her 4 year old daughter Madeline who has Type 3 Gauchers disease, travelled to London to a Family Day for all the children and their families who attend the Gauchers Clinic at Great Ormond Street Children's Hospital. The day had been organised to provide an opportunity for families to get together to meet in an informal atmosphere and talk about Living with Gauchers Disease. Tanya is the Type 3 Representative for the Gauchers Association and reports here:
The day started with families chatting, children running around, refresh-ments being served and lots of introductions. The format for the day had been put together by Dr Ashok Vellodi, who is in charge of the Gauchers Clinic at the hospital.
The day offered lots of opportunity to chat as well as structured sessions for families and doctors. To ensure that parents, carers, friends and siblings had the opportunity to talk about specific issues, a childrenµs entertainer had been booked to occupy the children in the afternoon.
Six Type 3 and two Type 1 children and their families attended the Day. The atmosphere was so rewarding, lots of smiles, some laughing, long conversations about experiences and life; lots of questions were asked and there was an underlying under-standing of each other.
The morning gave the families the opportunity to chat informally and get to know each other. The doctors together with representatives from Genzyme Therapeutics and Healthcare at Home used that time for a professionalsµ meeting.
The children ranged in age from 18 months to 15 years, each having their stories to tell and questions to ask.
A great lunch was served after which the children were settled down to have their faces painted and Naughty Nick arrived to entertain them for the afternoon, lots of shouting, singing and laughter could be heard.
While the children were enjoying their afternoon, the professionals, carers, friends, parents and some siblings settled next door to listen to a series of talks.
Type 3 Experiences Overseas
Dr Vellodi spoke first about his recent trips to Sweden and Russia to visit Gauchers sufferers. His talk covered adults and children in Sweden who are predominantly Type 3. He talked about their symptoms and lifestyles. Most of these patients are doing well, most of them are now on enzyme replacement therapy and their symptoms range from abnormal eye movement to ataxia (losing balance), spasticity (stiffness) in their lower limbs, speech impediments and curvature of the spine. Dr Vellodi then went on to talk about the problems in Russia regarding access to funding for enzyme replacement therapy.
The second speaker was Ms Julie Kelly of Genzyme Therapeutics, who talked about future support for sufferers of Gauchers disease, highlighting that the company continues to research treatments into rare diseases. Ms Kelly also mentioned that Genzyme are looking into the possibility of producing 400 unit vials of Cerezyme to assist patients in the preparation of their treatment.
Finally Ms Claire de Lillis of Healthcare at Home spoke to the group about the range of services her company offers (it dispenses and distributes Cerezyme to patients in the UK and also provides nursing support) and explained how it can and does support the needs of its customers. The company also set up a stand which offered patients and their families the opportunity to address any issues they had with administering treatment.
The day ended with a parent and family discussion session. This gave the opportunity to raise any issues and ask for advice and information from each other. Although specific subjects such as: transferring treatment from the hospital to the home, disability living allowance and educational statementing were discussed, many questions, concerns and issues had already been addressed during informal chatting throughout the day.
The general consensus of all who attended the day was that it was extremely beneficial and had enabled families who face the same issues and daily challenges to talk to each other and see that they are not alone.
The families also felt that the Family Day should be repeated and that maybe the families from Great Ormond Street Hospital could meet families from Manchester Childrenµs Hospital (the other childrenµs Gauchers Centre) on an annual basis.
I would like to thank all those concerned for organising such a rewarding day.
Family day in Manchester
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Source: Gauchers News January 1999
© Copyright Gauchers Association 1999