A mum has shared her relief after her daughter was diagnosed with a rare condition that few people have heard of – following a year of puzzling symptoms.
Little Harper Berry struggled to thrive after birth, with the tot unable to gain enough weight, often projectile vomiting and crying constantly, leaving her parents, Christyna and Robert, frustrated and desperate for more answers.
Doctors knew Harper, now five, had a hole in her heart before she was born, and after birth, she was diagnosed with pulmonary valve stenosis – when the valve is too narrow, causing the ventricle to pump harder to send blood to the lungs.
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But they were stumped as to her other symptoms until, at 13 months old, Christyna claims she was finally able to convince them to refer her to a geneticist.
A simple blood test found the cause, and the tot was diagnosed with Noonan Syndrome – a condition which causes ‘unusual’ facial features, restricted growth, heart defects, bleeding problems, and a range of other symptoms, including those she had been suffering with.
“I had three children [already] and knew what was typical and how things should be,” Christyna, a 38-year-old influencer and delivery driver from Pennsylvania, US, told Need To Know.
“I knew things weren’t right, but I couldn’t get anyone to listen to me.
“I was concerned for the future when we found out her diagnosis.
“I had never heard of it before.
“I wasn’t entirely sure what we were dealing with or how severe it might be for her.
“Googling Noonan Syndrome gives a lot of information that can be scary but didn’t necessarily apply to her.
“There were physical features that she didn’t have, and not all of her organs were affected.
“I learned very quickly that most children with Noonan Syndrome run their own race and do things in their own time.
“I don’t expect her Noonan Syndrome to hold her back in any way or limit her life expectancy.
“I was also relieved when she was finally diagnosed.
“It gave me answers to a lot of questions and the ability to be more proactive.
“I was also able to connect with other families on Facebook and it made me feel less alone.”
Christyna also shares information about the condition on her Instagram page to raise awareness.
Although Noonan Syndrome is considered rare, it is estimated to affect one in 1,000-2,500 babies.
She said: “Even though Harper is tiny, she’s like most typical five-year-olds.
“Some people tend to baby her because of her size, but she’s quite independent.
“I’d encourage parents who have children with a diagnosis to fight for them and don’t hold them back.
“Many individuals are perfectly capable of so many things, sometimes more than we ever expect.”
Harper has regular treatment and is monitored by a cardiology team.
Christyna said: “Noonan Syndrome can affect a lot of different areas of the body, so it’s important to be proactive and get everything checked out to make sure there aren’t any issues.
“Harper’s been seen by cardiology since birth.
“It was originally predicted she would have open-heart surgery at the age of two, but she’s been quite stable.
“I believe we will finally schedule surgery for this summer.
“She also worked with our local early-intervention specialists with feeding as she got older and had issues eating solids.
“It took time, but she got much better with eating – even if she was very particular about what she ate and only ate small amounts.
“It’s been such a positive experience [watching her progress].
“Most mums take so much for granted – their children eating solids, taking their first steps, saying their first words, riding a bike.
“All of that has taken a lot of extra work for Harper.
“So when it happened, it was that much more exciting.”
Harper has recently started taking growth hormones every night to help increase her height and appetite and is due to have heart surgery to repair the holes in her heart and fix the pulmonary valve if necessary.
Christyna added: “I expect Harper to continue to have a typical life of a child.
“Once she has her heart surgery, I feel like we’ll finally have crossed the threshold of things unknown.
“I feel like that’s been something that’s hung over us like a dark cloud.
“I’ve tried not to think too much about it, but it does catch up with me from time to time.
“I have no doubt that once she recovers from that she’ll thrive and progress even more so than she has now.”
“Harper has brought so much joy into our lives and I can’t wait to see what life has in store for her.”
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