‘I REALISE NOW THAT I WAS ON MY OWN PATH IN LIFE’
ARHONDDA woman with a rare genetic condition has spoken out about how it affects her life as she looks forward to her future. 24-year-old Katie Palmer was diagnosed with Noonan syndrome at just three months old.
The physical elements of her condition meant Katie struggled growing up.
She said: “I still have days where I feel completely inadequate but I like to challenge my mindset and be thankful for what Noonan syndrome has gifted me.
“I was never expected to achieve or lead a normal life. Although I’m a very positive person, I do worry about my own future.
“My dream is to become a mother some day but the dream is wrapped up in so much frailty.
“Having this rare disease brings a 50/50 chance of it being passed onto my children and that is something that consumes me with worry every day.”
Katie was educated at a special school, where a nurse was available throughout the day, which Katie struggled to come to terms with.
“I wasn’t always as positive as I am now,” she said. “Having a rare disease did affect my condition and self esteem for the longest time.
“I didn’t know anyone else with Noonan syndrome so therefore didn’t have any representation.
“I struggled to accept the way I was and would often, as a child, worry about what the future would be like for me. I didn’t think I would get any formal qualifications, get a job or lead a typically normal life.
“I remember really struggling with the fact that I fell behind in education and I’d become really self conscious if anybody asked what GCSEs I was studying.
“Of course I couldn’t answer and I felt really embarrassed. I do think the fact of falling behind and never having a mainstream education is something I won’t ever 100% accept.”
One thing she struggled with the most was being unable to sit her exams like many of her friends; she wanted the chance at life.
She said: “Being placed in a special school was one of the most toughest things I’ve ever had to accept. I so badly wanted to be in a mainstream alongside my friends from my neighbourhood. Especially when they all started taking GSCEs.
“The special school didn’t offer GCSEs and this is where I truly started to perceive a difference in myself. It was so difficult when GCSE results day would come round each year. It would bring a lot of hurt inside of me.”
Katie says she is grateful for the life lessons she gained through not being educated in mainstream schooling, and she eventually went on to gain further qualifications after she left school.
“Being in a special school was an eye opener, it put a whole new perspective on the way I see the world,” she said. “It truly has made me a much more grounded, grateful and empathic person.
“Not having GCSE qualifications meant that I’ve been on a longer road to get to where I want to be in life, falling behind has been very difficult but I’m here, achieving what I love.
“I’m doing a Level 3 Teaching Assistant course, which I’m enjoying every minute of. I realise now that I was on my own path, even though that path took longer and the wait was hard, but it hasn’t defined my potential and what I can become.
“As the saying goes ‘every flower blooms at different times’.”
According to the NHS, Noonan syndrome is a rare genetic condition caused by a fault in one of several genes that can cause a range of distinctive features and health problems.
The condition is present from before birth, although milder cases may not be diagnosed until a child is a few months old.
It is so rare that it is estimated that between one in 1,000 and one in 2,500 children are born with the condition.
Katie has the SHOC2 mutation, which is one of the most rare out of all of the variants.
The most common features of Noonan syndrome are unusual facial features, such as a broad forehead, drooping eyelids and a wider-thanusual distance between the eyes; short stature (restricted growth); and heart defects (congenital heart disease).
In some cases, the faulty gene is inherited from one of the parents. The parent with the faulty gene may or may not have obvious features of the condition themselves.
Only one parent needs to carry the fault to pass it on and each child they have has a 50% chance of being born with the condition. In other cases, the condition is caused by a new genetic fault that isn’t inherited from either parent.
Katie has become an international family advocate for Noonan syndrome and helps parents and children by raising awareness of the condition.
“I hope to help parents change their ‘ what ifs’ from ones of fear to ones of possibility and hope for their child,” she said.
“The parents and families who I coach always tell me how intelligent I am, and how I’m full of wisdom and it brings me such a feeling of comfort as I still have days where not having any GCSE qualifications makes me feel inadequate.”
She hopes to change the stigmas associated with the syndrome.
Katie aids parents on how to have difficult conversations with their child and how to navigate situations they will inevitably face parenting a child with a rare condition.
She said: “I never planned to become a family advocate but life has its way of showing you just who you were made to be.
“I get asked a multitude of questions by parents, it gives me a sense of responsibility and the joy I get from helping families never gets old.”