Wellesbourne mum and daughter both have rare genetic disorder
EVERYDAY is a ticking timebomb for a young Wellesbourne mum who shares a rare genetic disorder with her six-year-old autistic daughter which causes cancer.
Rebecca Mckenzie, age 30, admits she lives in fear and worry for her daughter’s future because as a single parent with her own severe health issues she’s just not sure what tomorrow might bring for both of them.
“I keep thinking of all the what ifs. What if I become too ill or even died what would happen to my daughter? All I have to fall on for support is my parents but they won’t be here forever not as long as I would like and need them to be. Everyday is a ticking timebomb from our health to my daughter’s autism,” Rebecca told the Herald.
The genetic disorder which Rebecca and her daughter - Sienna-Rose – have is called Gorlin syndrome that affects many areas of the body and can cause various cancerous and noncancerous tumours.
In addition, Sienna-Rose, has multiple disabilities and struggles to walk far because of balance issues and also suffers from alopecia.
Rebecca said of her own condition: “When you hear the word cancer your mind goes into shock mode. When I first was told I had Gorlin syndrome I looked it up online and it said it was skin cancer but there’s a number of different skin cancers so I went to a specialist who looked at my skin through a magnification glass and told me, “I’m sorry it’s cancer.” I was born with a hole in my heart which I had surgery for when I was two. I was also born with a narrow heart valve which Sienna-Rose was also has so now we have regular heart checks.”
Sienna-Rose has extra fluid on her brain which means she has to have regular head measurements, however, hospital visits are extremely difficult and can involve anyone of the following locations where Sienna-Rose is treated; Warwick, Birmingham Children’s Hospital, Birmingham Women’s Hospital, Walsgrave and Stratford.
“She will be having another MRI / CT scan soon but she will have to be put to sleep to have this done because it all becomes a big fear for her. We have had a lot of bad experiences at hospitals and every trip becomes a challenge. She recently had to be sedated to have someone look at her eyes but she fought the sedation.
“Everyday is a challenge. You never know what will happen next and you are always living on the edge. Hospital trips are becoming a nightmare because you never know how she will react.
Day to day living is like a ticking timebomb and the slightest thing that doesn’t go right for her and you soon know about,” said Rebecca.
Rebecca knows she’s exhausted and has been for the last six years but she gives every ounce of her time and energy being the full-time carer for her daughter.
She told the Herald “With my daughter’s condition and the genetic disorder we share, life can feel incredibly lonely at times.
“I haven’t got a partner and I’m up all night with Sienna Rose who has always got to be in control even when it comes to watching telly. I don’t have much chill time because I’ve got to keep an eye on her and in the end you become too tired yourself. Often you’re asleep as soon as your head touches the pillow.”
Rebecca’s parents, Janet and William, are in their 60s and she relies on them as her support network for things like transport to and from the hospital but – she admits – she has “no friends.”
Like any parent Rebecca just wants to do the usual range of activities families get up to but once again the medical concerns both mum and daughter have bites into the very core of their daily lives.
Rebecca said: “Sienna-Rose isn’t like another six-year-old and every day is a challenge and a worry. I always have to make sure she’s OK in case she trips or falls. As she’s autistic her speech isn’t the best and she has her outbursts especially when you’re out shopping. Then there are the horrible looks you get because she just wants to bang a sign. Everyday is a routine and she always wants your attention, always wants to be in control and it has to be her way just to keep her level-headed.
You can’t really ask her any questions because most of the time she just repeats what you just said. So to me it becomes very lonely and there’s always a moment for me when I have a few tears.”
Because Sienna-Rose is on a strict diet, mum and daughter can’t go out and have a pub lunch which is something that would help relax Rebecca’s mind from the fears or worries around her. Such a trip out would make a big difference if only for a few hours during the day.
“Why can’t pubs let you take in your own specific food for people with autism and they cook it for you just to give us the feeling of feeling normal and not restricted?” Said Rebecca.
Despite the constant challenges, despite the never-ending uncertainty about the future and despite the tears of sheer exhaustion, sometimes the clouds do part and a brief ray of sunshine filters its way into Rebecca’s life as she dreams of the future.
“I am on my own as a single parent but I still have a dream of having more children. I have been looking into IVF treatments but its so expensive.
I know my health is probably an issue and I’m raising an autistic child with multiple disabilities but it really would be a dream come true to raise another child,” she said.
To donate visit: https://gofund.me/26dde270
To find out more about Gorlin syndrome and Rebecca’s story visit:
https://www.facebook.com/groups/179713685173484/?ref=share
