Derry Girl's fight with 22q, a rare disease that impacts every aspect of her life

Rebecca Gleed spent the first 17 years of her life unaware of the condition she was living with. 

She was born with a ventricular septal defect (VSD) and had heart surgery at 17 months old. 

Rebecca was then finally diagnosed at 17 years old with 22q11.2 deletion syndrome. 

Her mum, Daphne, said Rebecca's diagnosis came after many years of knowing something wasn't right.

"I noticed Rebecca didn't mix well with her peers and was struggling with education," she said. "Eventually, after an educational assessment, she went to a language school for two years before being sent back into mainstream school. I was always told what a lovely, quiet wee girl she was. 

"At high school, Rebecca was bullied and she left school with no education and was traumatised from the way she was treated. 

"Things started to get worse when she developed paranoia and became a recluse. Then at 17, she was diagnosed with 22q which in a way was a relief. 

"Rebecca has scoliosis, osteopenia, calcium deficiency, ulcerative colitis, congenital heart defects, an ectopic heartbeat, mental health issues, hearing loss, and a number of other medical issues. 

"Two and half years ago she was diagnosed with Parkinson's Disease, which we have both found very difficult."

Rebecca's diagnosis of Parkinson's disease at just 26 years old makes her condition even more rare and makes her the youngest patient with Parkinson's her consultant in Belfast has ever treated.

Daphne continued: "The medication has helped some but every day is a learning curve. Rebecca has an amazing neurologist who has been helping her with the difficulties she encounters every day. 

"The hardest part of all of this is 'she looks fine'. Even the doctors still say 'What is 22q?'

"Rebecca is a wonderful girl who has struggled all of her life. Yet she has chosen to take part in a lot of research so that it may help the younger 22qs growing up. 

"She hopes this will mean more support and help for youngsters with 22q so they don't feel like they don't fit in or that they are 'going mad' as Rebecca has described it. 

"Hopefully they will gain many friends as Rebecca hasn't, which is so sad for me as her mother to watch. I am so proud of my beautiful, kind and caring daughter."

22q is a disorder caused by a small missing piece of the 22nd chromosome. This tiny missing portion of chromosome 22 can affect every system in the human body.

Rebecca is now 29 years old and sadly suffers from many health issues caused by her condition.

Her devoted mum, Daphne, has researched extensively over the years and even discovered medication trialled in America that helped control Rebecca's paranoia caused by her condition.

Paranoia and schizophrenia are common side effects of 22q, as well as heart conditions, frequent infections, certain facial features, such as an underdeveloped chin, low-set ears, wide-set eyes or a narrow groove in the upper lip and cleft palate.

Other symptoms include delayed growth, difficulty feeding, failure to gain weight or gastrointestinal problems, breathing problems, poor muscle tone, delayed development, delayed speech development or nasal-sounding speech, learning delays or disabilities and behaviour problems.

Rebecca has recently found out she is also partially deaf due to nerve damage. 

Rebecca and Daphne routinely visit doctors and consultants which Daphne says are incredibly good and dedicated to Rebecca. 

When Rebecca was first diagnosed, Daphne said there was little to no information and awareness of 22q.

Rebecca and her devoted mum hope that speaking out will raise much needed awareness and support for 22q as well as other rare diseases many people live with daily in Derry and beyond. 

Rebecca and her mum want to tell their story in a bid to help at least one other person or family who may be going through a similar situation. 

Daphne continued: "When Rebecca was diagnosed, there was relief that we finally had a diagnosis, but there was hardly any information or knowledge available about 22q.

"I wish I had known the signs when Rebecca was little, things may have been easier for her now if she had got an earlier diagnosis.

"If we can help even one parent and child notice the signs early and receive the treatment they need, it will all be worth it.

"I just sometimes think if we knew Rebecca's condition before she went to school, things might have been different but hopefully her strength and story helps another person."

Rebecca said her recent Parkinson's diagnosis is the most difficult news that she has had to deal with and thanks her beloved mum for her unwavering love and support.

"I really found the Parkinson's diagnosis hard to accept, harder than my 22q," Rebecca said. "When I received the 22q diagnosis I felt relieved that we finally had an answer to all my symptoms, after 17 years. 

"I am currently waiting on results from my neuropsychologist, Dr Kelly. Dr McKinley is my neurologist. They have both been wonderful and keep a close eye on everything and I see Dr Kelly every three months.

"More than anyone, I don't know what I would do without my wonderful mum, Daphne. 

"She is always there for me. She's not just my mum but she's my best friend."

To read more about 22q visit: 
https://www.nhs.uk/conditions/ digeorge-syndrome/