By SWAN UK Digital Communications and Support Officer, Miriam Ingram
This year our fourth Undiagnosed Children’s Day is taking place on Friday 29 April.
Undiagnosed Children’s Day is a nationwide event to increase awareness of children with undiagnosed genetic conditions, and raise funds for SWAN UK.
As part of the lead up to the day, we will be sharing regular instalments on our blog to explain more about being undiagnosed, what it means to have a child with a syndrome without a name and how SWAN UK supports families.
Why is a diagnosis important?
To have a sense of what the future holds
Without a diagnosis for their child families face an uncertain future. They have many questions but no answers.
Will they walk? Will they talk? What will their life expectancy be?
Having a diagnosis could provide a prognosis, which could mean more knowledge about treatment and give families a clearer idea about the future.
A parent of a child with an undiagnosed genetic condition explains: “With a meaningful diagnosis I could maybe plan a little more and worry a little less.”
To be taken seriously
Families are often not taken seriously because they can’t explain ‘what’s wrong’ and don’t have a name for their child’s condition. Families experience comments such as: “maybe they will grow out of it”. In our SWAN UK member survey 2016 one member said: “Not having a ‘set’ of expected impacts from a diagnosis means constantly having to explain what the issues are. It can be exhausting.”
To find out how family members will be affected
Without a diagnosis, families face a question mark over having more children as they don’t know if future children will be affected.
“I want another child but without any answers it seems like such a gamble,” said one parent.
Families also don’t know what a lack of diagnosis will mean for that child’s siblings.
What will it mean for them when they have children?
It can also be extremely difficult for siblings to be able to explain and answer people’s questions about their brother or sister.
Access to services
Families struggle to access services including respite and social care because they don’t tick the right boxes or don’t have anything to put in the tick boxes.
“I had to almost beg for hospice place – no diagnosis so no prognosis, and this is despite the amount of times my child has been resuscitated,” said one SWAN UK member.
To feel less isolated
Without a diagnosis many families feel ignored and isolated. It can be difficult to get support from social services, apply and complete various forms and sort out benefits, funding for help in school and getting the right type of school support.
How is the experience of raising a child with an undiagnosed genetic condition different to raising a diagnosed disabled child?
Fear of an unknown future
Parents of a child with an undiagnosed genetic condition don’t know what to expect from their child and even what their child’s life expectancy will be. Parents can be left worrying whether a new suptom is something to be concerenced about or not.
A SWAN UK member said: “Every time my child is feeling unwell, has a sore head or has a pain somewhere…is there something more serious going on inside her than just the “norm”. Fear of not knowing what to expect in her future is the hardest thing.”
Another parent of a child with an undiagnosed genetic condition said: “It’s like constantly looking for the missing puzzle pieces when in fact there might not be any to find.”
Families are often under immense pressure and may feel very isolated and alone. They often feel excluded from other disability or support groups because they don’t fit in there without a diagnosis.
Without a name for your child’s condition, parents can struggle with getting a coordinated medical pathway, which impacts on being able to get the right support for other services such as education and getting appropriate equipment.
A SWAN UK member explains: “There is more difficulty in getting seen by the right people because, obviously, the right people aren’t known.”
Access to services
Families of children with undiagnosed genetic conditions often don’t access disabled children’s support groups because they feel like they don’t fit in or are excluded. Their child’s needs are often not taken seriously and they are refused access to information, support and services because without a diagnosis, their child doesn’t ‘tick’ the right boxes.
“The overall feeling of ‘no body wants to help, without a diagnosis on paper’ as they don’t know what they’re dealing with.”
Lack of answers
‘When you have the “diagnosis” box on the endless paperwork you have, you end up listing all their issues but there’s no room for them all! With a diagnosis you can just pop that down and it’s done!’