“My baby girl is a human time bomb – she is the only person in the world with her disease”


A few days after Ruby Smith was born, her mother Claire Parsons noticed something unusual about her behavior.

Her four-day-old baby wouldn’t feed and was holding her breath – something her mum described as a bit like apnea.

“I thought maybe it was a bit of wind or ebb. It was only momentarily every time,” Claire, from Bedford, told the Mirror.

But the next day, she knew it was more serious.

“[Ruby] continued to do so and she turned slightly blue. I took her to A&E with what I thought were tummy issues,” the mother of five shared.

When she arrived at the hospital with Ruby, a doctor witnessed one of the episodes during her evaluation and sent her straight to NICU.

Ruby has frequent seizures, which means Claire often has to call an ambulance.

Claire’s youngest child needs constant supervision in case something happens to her

To get more news that matters to you straight to your inbox, sign up for one of our daily newsletters here

During her first night in the hospital, Ruby had a severe seizure. Unsure of what caused it, doctors prescribed her antibiotics and performed an MRI – but results showed everything looked normal and Ruby was discharged.

According to Claire, who is now blogging about her daughterit was then that everything “snowballed”.

She said: “From six weeks Ruby started having these episodes every week. The following year, we were hospitalized and discharged from the hospital, but they didn’t know what these seizures were.

“We didn’t know if we could treat her at home because of the rescue medication for her seizures. Sometimes we were in the hospital three or four times a week. For the first 18 months of his life, we spent more time in the emergency room than at home.

While Claire and Ruby’s father worried about what was wrong with Ruby, she was also concerned about the consequences it was having on her four older children.

“They didn’t really understand what was going on. I felt bad having paramedics in the house all the time – it’s like your feet haven’t touched the ground,” she recalled.

While doctors were baffled by the cause of Ruby’s episodes, Claire had her own intuition, which attributed her daughter’s seizures to a traumatic birth during which she could have been injured or deprived of oxygen.

But when Ruby was eight months old, doctors called her for genetic testing. Almost five months later, they finally had an answer.

Ruby was diagnosed with Alternating Hemiplegia of Childhood (AHC), a rare and complex neurological disorder with several serious symptoms – including seizures.

The disease can cause temporary paralysis (hemiplegia), developmental delays, balance and mobility problems, and cognitive impairment.

Although it affected every aspect of her life, Ruby was able to reach certain milestones

Claire says she’s always on high alert in case Ruby has a seizure.

The condition is caused by a mutation on the ATP1A3 gene – but there are many different types of mutations, meaning people with AHC can all experience different symptoms. It is therefore difficult to predict how the disease will manifest in each child.

In Ruby’s case, Claire says she’s the only known person with the specific genetic mutation, which means that as of now, her condition is completely unique.

The devoted mum recalls having mixed emotions when Ruby was diagnosed.

“We finally knew what we were dealing with, and I felt relieved to know what it was.

“Then again, there is no one else to compare her to. She’s one in a million,” Claire said.

Now six and a half years old, Ruby’s AHC affects nearly every aspect of her life.

Claire described: “She has absence seizures throughout the day. She will play fair and get sudden paralysis in her arm.

“Fortunately, episodes of hemiplegia are short-lived.”

She added that Ruby has ataxia, a movement disorder which means her walking is “wobbly” and lives with epilepsy alongside AHC. She is also on the autism spectrum and is largely non-verbal.

“The longest time Ruby has ever been seizure-free is seven weeks and six days, and that’s only recently,” Claire said.

Ruby’s condition also means she is at higher risk of Sudden Unexpected Death in Epilepsy (SUDEP).

“Every crisis causes damage,” Claire said. “One bad episode and she can regress and lose everything.”

Ruby’s condition means that Claire “never switches off” and is with her youngest daughter all the time, except for a few hours a week when she’s at school.

Claire can’t take Ruby swimming or other fun activities.

Ruby was able to walk, although Claire never expected her daughter to reach this milestone

She described, “Ruby and I share a room. She has an epilepsy alarm on her bed so I can be alert for epilepsy 24/7. I can’t remember the last time I sat in my living room at night and watched TV after putting the kids to bed.

She referenced a documentary about the condition, titled Human Time Bombs.

“It’s an appropriate title because you just don’t know what’s going to happen,” Claire said. She added that one of the “cruest things” about AHC is that it’s often overstimulation of any kind that will cause an attack.

“It’s heartbreaking. When the lockdown ended, I thought the kids had been through a lot, so I took them to a cabin on the coast for a few days. But it was my worst nightmare.

“We had been on a long trip and were in a new place with a new routine. [Ruby] had a seizure that night, so we went home the next day,” she recalled.

“You don’t know what the trigger will be. It could be hot or cold temperatures, certain foods, being in water, or playing with siblings. I could never take her swimming or to a trampoline park, even though she would love all of those things.

Claire has to be so careful with her daughter that she even has to regulate the temperature of her bath with the shower head – making sure it never gets too hot or too cold.

However, Claire noted that her daughter still managed to achieve incredible milestones.

“She can say ‘mom’ and ‘dad’. Just after her fourth birthday, she walked for the first time. It’s something I never thought I’d see her do, which is amazing,” the mother said.

Although Ruby’s condition has changed family life forever, Claire finds herself constantly explaining AHC to people who have no idea what it is.

“Almost everyone I talk to has never heard of it,” she said.

Claire hopes pioneering gene therapy could ease or even reverse Ruby’s symptoms

Ruby can go to school a few hours a week

“But it can still kill my child. Many children and young adults die from AHC.

She believes that because AHC is not well understood, it is underfunded and underresearched – something she noticed when she tried to raise money for Ruby in the past.

“People are more likely to donate to causes when they’ve heard of the disease rather than something rare,” she explained.

Claire is currently fundraising £20,000 for Ruby to have a pioneering gene therapy that could make a huge difference to her quality of life and even reverse her symptoms.

But she notes that it was largely due to the hard work and campaigning of parents of children with AHC that the therapy was developed in the first place.

“When you only have 1,000 patients worldwide, it’s difficult. If there were 2 million patients it might be different, but AHC is so rare that we have to do it ourselves,” she said.

“It’s really important to highlight these rare diseases that don’t get as much publicity. For our children, it is a life-limiting disorder and anything can happen at any time.

“For Ruby’s sake and for us as a community, it’s important that people know what [AHC] is. Just because you haven’t heard of it doesn’t mean it’s not serious.

Do you have a real life story to share? Email [email protected]

She added that her intention was not to downplay the seriousness of any other disease affecting children’s lives, but rather to draw attention to a disorder that many people don’t even know exists.

She asked, “Why wouldn’t our children have a chance?”

Claire created a GoFundMe page to raise money for Ruby’s gene therapy. To donate, click here

Read more

Read more


About Author

Comments are closed.