ultra-rare disorder
Ultra-rare disorders are defined in Europe as disorders that occur with prevalence below 1 in 2,000,000 or less. For Progeria, this is estimated 1 in 4,000,000. There is attention by policy makers and health authorities for rare disorders, but the attention for ultra-rare disorders is limited. From the mid-eighties on, support groups for rare disorders have played an increasingly important facilitating role in medical research, especially in North-Western Europe. Some support groups have developed as well into much more professional societies. The availability of Internet has allowed parents to act not only nationally, but also to have international contacts. As European support group for ‘our’ ultra-rare disorder, Progeria, we are able to evaluate the quality of care of various caregivers, and inform our members about it. With our network of experts, we are also able to evaluate the various research strategies, so parents can determine what in their opinion will be the best approach.network
The Family Circle is supported by a network of experts in Europe. Since the existing treatments are all in a trial phase (experimental), it is necessary that parents can find independent information. Experts and experienced parents can help them to make important decisions.Diagnosis, long term care and research in ultra-rare disorders are different from those in general. Expertise is needed for both diagnostic and providing care. Research in rare disorders raises difficulties due to the limited number of patients that can be studied, which often asks for unusual strategies. It is important that parents are well informed, to be able to make the best decision for their child.
management
The board and supportgroups are managed by volunteers who live in the Netherlands, Belgium, Germany, Austria, the United Kingdom, France, Spain, Slovenia and Portugal. No one gets paid for this work, so all donations are used for our mission. A family network needs continuity, especially in person to person relationship. Our volunteers are very committed, loyal, and, by definition, not paid. We are sponsored through (mostly small) private donations.
Our objectives are fourfold:
o support for individual families
o annual meetings
o provide up-to-date information
o support medical care and research
support for individual families
We offer necessary and permanent support. Contacts with several specialists in Europe make a quick diagnosis possible. In 1997, when this network started, information on the disease was hard to find. This has improved, also due to medical developments accurate diagnosis is possible. Since 1997, the Progeria Family Circle has welcomed more than sixty families.
facilitate access to medical and paramedical care
We provide guidelines for primary care, inform the child’s physician, dentist and fysiotherapist as well as (municipal) social services for adjustments at home and school. We also inform teachers, and promote integration of children at school.
We guard privacy – which is an important aspect for some families.
We offer financial support if needed for basic care. For example: in the past, a 10-year-old girl was not accepted at her school, she had to stay at home alone during the day. For some time, we offered financial support to the mother so she could stay at home to care for the child. We also contacted her teachers and students, which resulted in her going back to class with an customised program.
meetings
We try to organize an annual meeting for all European children and their families. A week filled with fun. These gatherings are important highlights, because of the rarity of the disease children never see other patients. Also mutual contact proved very valuable for the parents. Each family has a personal translator, who stays in touch with the family during the year and helps when needed.
The value of emotional support and assistance of parents with experience is difficult to overestimate. Meetings are a source of joy in which the children find much self-esteem.They find friends, soul mates, even when they don’t speak each others language. They can identify themselves with older kids, and for once they are not exceptional, but special. They take this empowerment home.
provide up-to-date information
We have raised awareness to establish more public acceptance. Especially in the past, progeriachildren were often stared at, this makes them feel like strange outcasts. We keep personal contact with journalists and documentarymakers who choose the right approach.
support medical care and research
Also at meetings, parents have the opportunity to speak with specialist physicians and actual information about progeria can be exchanged. The aim is to support better and faster recognition of symptoms and problems in new, but also known patients.
Looking back, a lot of progress has been made in the last thirteen years:
As a small patients group, we are not able to raise funds for medical research, but in many other ways we support and facilitate medical caregivers and the search for a cure.
management
The board and supportgroups are managed by volunteers who live in the Netherlands, Belgium, Germany, Austria, the United Kingdom, France, Spain, Slovenia and Portugal. No one gets paid for this work, so all donations are used for our mission. A family network needs continuity, especially in person to person relationship. Our volunteers are very committed, loyal, and, by definition, not paid. We are sponsored through (mostly small) private donations.
Our objectives are fourfold:
o support for individual families
o annual meetings
o provide up-to-date information
o support medical care and research
support for individual families
We offer necessary and permanent support. Contacts with several specialists in Europe make a quick diagnosis possible. In 1997, when this network started, information on the disease was hard to find. This has improved, also due to medical developments accurate diagnosis is possible. Since 1997, the Progeria Family Circle has welcomed more than sixty families.
facilitate access to medical and paramedical care
We provide guidelines for primary care, inform the child’s physician, dentist and fysiotherapist as well as (municipal) social services for adjustments at home and school. We also inform teachers, and promote integration of children at school.
We guard privacy – which is an important aspect for some families.
We offer financial support if needed for basic care. For example: in the past, a 10-year-old girl was not accepted at her school, she had to stay at home alone during the day. For some time, we offered financial support to the mother so she could stay at home to care for the child. We also contacted her teachers and students, which resulted in her going back to class with an customised program.
meetings
We try to organize an annual meeting for all European children and their families. A week filled with fun. These gatherings are important highlights, because of the rarity of the disease children never see other patients. Also mutual contact proved very valuable for the parents. Each family has a personal translator, who stays in touch with the family during the year and helps when needed.
The value of emotional support and assistance of parents with experience is difficult to overestimate. Meetings are a source of joy in which the children find much self-esteem.They find friends, soul mates, even when they don’t speak each others language. They can identify themselves with older kids, and for once they are not exceptional, but special. They take this empowerment home.
image © Benno Neeleman
provide up-to-date information
We have raised awareness to establish more public acceptance. Especially in the past, progeriachildren were often stared at, this makes them feel like strange outcasts. We keep personal contact with journalists and documentarymakers who choose the right approach.
support medical care and research
Also at meetings, parents have the opportunity to speak with specialist physicians and actual information about progeria can be exchanged. The aim is to support better and faster recognition of symptoms and problems in new, but also known patients.
Looking back, a lot of progress has been made in the last thirteen years:
- Based on information that parents provided about the development of their child, a new scientific review on progeria has been written which now helps doctors who treat a child with this ultra-rare disease.
- Diagnostic laboratories have exchanged DNA, blood and cell tissues from progeriapatients and results across the EU.
- The genetic cause of this ageing disease has been found. Due to a missing code on gene 1 the Lamina in the nucleus stays fatty (they now call this abnormal protein progerin), which causes severe problems.
- A diagnostic test has been developed.
- Thanks to contacts between involved doctors all over the world, scientific research has made much progress in the past few years, and a therapy has been developped. European children are offered a therapy with a combination of statines and aminobiphosfonate in Marseille. This medication is now also used in Boston.
- The progeria Family Circle offers logistical and practical support to these hospitals.
- We represent progeriapatients on European and global level, visit medical congresses and keep ourself informed about developments.
- Support of pluri-diciplinary research, aiming at a better life for patients.
challenges
- communication - ten languages are represented in our network, and more to come.
- the emotional impact and the respectful communication that has to go with it.
- costs - it is not easy to reach our goals without a professional fundraiser, but we are reluctant to pay a fundraisers salary from donations.
- the size of our network and the organisation of annual meetings.
