Families who have a child with an intellectual disability often report higher stress, depression, and anxiety levels than caregivers of typically developing children. Existing research on families of children with intellectual disabilities has mainly focussed on mixed samples of intellectual disabilities or on families with a child with Down syndrome or Autism. There has been little attention to the experiences of families of children with rare genetic conditions.

As a part of the new Three Syndromes research project (funded by the Big Lottery Fund, and based at Birmingham, Bangor, and the Institute of Psychiatry in London) we aim to research the experiences of caregivers of children with Cri du Chat, Cornelia de Lange, and Angelman syndrome.

One of the first steps for the Three Syndromes project has been to develop a questionnaire (the Genetic Syndromes Stressors Scale, or GSSS) on the specific stressors that families may face when raising a child with a rare genetic syndrome.

Existing questionnaires fail to capture some of the potentially unique experiences of these families.

We contacted 20 caregivers and guardians (via telephone) of children with Cri du Chat, Cornelia de Lange, and Angelman syndrome in order to gather information to help develop the GSSS. In this article, we aim to describe some of the stressful aspects of being a parent of a child with an intellectual disability and a rare genetic syndrome.

The first thing that became clear from the telephone interviews is that caregivers of children with a rare genetic syndromes have similar experiences to those reported by caregivers of children with other disabilities. Issues in common include: increased financial burden, caregivers not having enough time to themselves, their child’s challenging behaviour, and particular health issues.

Caregivers also raised concerns about the effects on siblings.

Stressors which may be unique to caregivers of children with a rare genetic syndrome include; day-to day stressors, public reactions, social and educational services, issues as the child gets older, dealing with healthcare professionals, and developmental issues.

One area of stressors concerned day-to day life; this includes the huge amount of preparations involved surrounding a child with a rare genetic syndrome child, such as feeding equipment, mobility issues, and personal care.

These preparations take up a lot of time and make it difficult for caregivers to do things on the spur of the moment.

Many caregivers mentioned that the attitudes of other people towards their child when going out in public could sometimes be stressful.

This could be something more unique to caregivers of children with rarer conditions, as public awareness of conditions such as Down syndrome is high, and possibly won’t elicit the same kinds of reactions from the public as children with rarer conditions.

Interestingly, caregivers’ experiences of social and educational services differed greatly.

Many caregivers said that dealing with social services was the most stressful aspect of raising their child, although a few said that they had generally positive experiences with them.

Many caregivers said they found social services to be frustratingly slow, and a common problem reported was that different services do not always communicate with each other.

This slows down the process of meeting the child’s needs and can be highly frustrating for caregivers.

In particular, many caregivers mentioned that getting adequate respite care from social services is an uphill struggle.

Perhaps dealing with social services could be extra difficult for caregivers of children with rarer genetic syndromes.

Many people in services may not have heard of the syndrome, and children with rare syndromes sometimes have very complex needs which services may not be familiar with.

This lack of previous information or experience of rare genetic syndromes may lead to social services finding meeting children’s needs particularly challenging.

Caregivers of older children were often concerned with trying to get their child included socially in a peer group, as finding suitable group activities within the local area can be difficult.

Caregivers of children of all ages were also very concerned about future provisions for their child, as there is a lack of information from social and educational services about what kinds of services are suitable and available for people with rare genetic syndromes once they are over 18.

Another often-mentioned subject was the stressors involved with dealing with healthcare professionals. In most caregivers’ experience it is difficult to find a professional with any knowledge of their child’s genetic syndrome, and encounters with new professionals can be frustrating.

Many professionals do not have any prior knowledge of the genetic syndrome, which often results in caregivers having to inform the professional about their child’s diagnosis, which can take up a lot of time and be very frustrating for the caregiver.

Sometimes consultations with new professionals are not very fruitful, because the professional has no prior experience with their child’s syndrome.

In particular, three developmental issues seemed to be commonly reported by caregivers: Sleeping, health problems, and helping their child to reach certain developmental milestones.

Although caregivers of children with a rare genetic syndrome do share similar stressors, some common themes emerged in each of the three syndromes.

Caregivers of younger children with Cri du Chat syndrome described how their child has little interest in food, and that getting their children to eat or drink as ‘battles’ and taking up a huge amount of time during the day.

Caregivers of children with Cornelia de Lange syndrome reported the most diverse set of health problems (such as feeding problems, severe reflux, bowel problems, and epilepsy).

Among caregivers with a child with Angelman Syndrome, some commonly reported stressors included lack of sleep.

Many caregivers also talked about the many positive aspects that come with raising a child with a rare genetic syndrome, such as giving the caregiver a new perspective on life and meeting a new community of people.

Lots of caregivers said that a huge benefit of being in a support group was meeting other families who are going through similar kinds of experiences with their child as they are.

The impact of belonging to support groups, along with positive aspects of raising a child with a rare genetic syndrome will be further explored by the Three Syndromes project in the future.