Living with a rare condition is tough

Little Rory Procek has a syndrome that is so rare it doesnt even have a proper name

Karen Procek’s son Rory (4) has a condition so rare it doesn’t even have a name.

Rory has a ‘derivative chromosome 8’. This means he has some genetic material missing from one part of his 8th chromosome (a Deletion 8p) and some material added on to the other part (a Duplication 8q).

This wouldn’t mean much to most people but it’s all too real for Rory’s family.

Karen said: “Rory has a range of complex additional support needs that a team of professionals support us with including global developmental delay, hypertonia, hypermobility and sensory issues.

“He is non-verbal and requires the use of a wheelchair but despite all these challenges he’s a cheeky wee loveable rascal who loves cuddles and cartoons.”

As conditions like Rory’s are so rare, doctors and other professionals often have little knowledge or understanding about them and aren’t able to provide many answers to the questions Karen and families like hers have.

This often happens and leaves parents feeling lost, confused and very isolated.

Karen added: “Given how rare Rory’s karotype is we were unable to get an accurate description of what life may be like for my baby.

“I remember sitting in the genetic consultant’s office thinking she must have us mixed up with someone else. Surely not us?”

Like many others, she was left feeling worried and confused about the future.  To highlight the challenges of having a child with a rare chromosome disorder, Karen is supporting the Unique charity’s efforts to raise awareness of the condition.

Having a child with a condition like this can be a very lonely experience.

Unique has no families on their membership with children who have exactly the same condition as Rory but they help parents with specialist information and support and by putting them in touch with others in the same boat – those whose children have similar symptoms but different chromosome disorders. Having felt isolated and alone, this can be truly uplifting.

Karen and her family were thrilled to attend a special Unique family day in Glasgow on June 12 where they were able to meet other families with children who have rare chromosome disorders.

By raising public awareness, Karen hopes to increase understanding among medical professionals, in the education system and in the wider public.

Karen added: “Unique allowed us to try and make some sense of our news.”

For more information on Unique visit www.rarechromo.org.