Tullamore mother raises awareness of rare disease

When Maisie Cornally was diagnosed with Juvenile Dermatomyositis (JDM) in May of 2018 her mother was told the rare disease affects just two in a million people.

Ahead of Global Rare Disease Day on Sunday, February 28, Shauna Keyes wants to raise awareness of the largely unknown condition among parents, and to highlight the support available via the Rare Ireland support network which she describes as being akin to “a giant family”.

JDM is an autoimmune condition meaning that the immune system which normally protects the body reacts abnormally, and becomes overactive in normal tissues, essentially attacking itself. It primarily affects the muscles and the skin with inflammation be that pain/redness or swelling. Without treatment, it can lead to possible tissue and organ damage.

Shauna, from Tullamore, is keen to highlight that it all started with a small rash on her daughter's tummy, something she thought little of at the time.

It spread from there across her face and body and looked like eczema, a skin condition she was actually treated for initially before things took a turn for the worse several months later.

“In May of 2018, she started to lose mobility. She started falling over a lot, waking me up at night with pain in her legs. Things very rapidly deteriorated from there as it started to affect her core muscles,” her mother recalls.

Shauna contacted her physiotherapist really concerned with Maisie's movement and they were sent to Portlaoise hospital where she remembers five doctors standing around her bed looking at the rash on her stomach and her bright red skin.

While she was more worried about her mobility, the Tullamore mother is full of praise for the medics on Dr Gallagher's team who spotted the rash was the root cause and quickly realised that three-and-a-half-year-old Maisie, who is also autistic, had Juvenile Dermatomyositis.

Tragically, Shauna's firstborn baby Joshua, who died in 2009 in Portlaoise, was later the subject of a HSE review into his death which highlighted serious errors in maternity care. He was one of five babies to die in similar circumstances at the hospital's maternity unit over a number of years.

“I have had two very different experiences in Portlaoise and two different children. In some ways they've redeemed themselves with Maisie,” the Tullamore mother simply says of her little girl born five years after Joshua.

Things moved rapidly once there was a diagnosis, with the Maisie going on a high dosage of steroids initially, and rounds of appointments.

That first year was very difficult, Shauna admits, as Maisie became extremely bloated from the medication and she got meningitis twice.

The most important thing is to get the condition diagnosed early otherwise a child could be left permanently disabled or worse, she stresses.

“I have to hand it to Maisie, she shouldn't be as strong as she is. She is very determined.

“We're nearly three years down the line and her growth and motor skills are back to where they should be. She was in a wheelchair (shortly after the diagnosis) so it's unbelievable to see.”

While the cause of JDM is still unknown and there is no cure, Shauna is hopeful research underway in America will yield results in the future.

Even though there is no family in the Rare Ireland group with the same disease, Shauna feels lucky to have come across it because it has been a great help to her, and a place where everyone understands the feeling of isolation when your child has a rare disease.

“The support is incredible. It's like a giant family, I know that's cliche but it's true. There are lots of chats,” Shauna says of the Rare Ireland support network, saying that she subsequently found herself two other families in Ireland also dealing with the disease.

She is just keen to educate parents that a rash could be more serious than you think and to get it checked out fast.

“From a personal point of view, if I knew a rash on the face could have been serious, I might have taken it more seriously. The only rashes you really hear of are measles and meningitis. It started out with a tiny patch on her tummy,” she warns.

The disease is inactive at present because of the various medications Maisie is taking, Shauna explains, and by the end of this year they hope to take her off them and she would be in remission.

However, they will have to monitor the effects of that and if there are any flare-ups or loss of mobility. Shauna really hopes that her daughter will not have to take medication long-term because it can cause growth issues and other problems down the line.

“I would rather if she wasn't on it (medication) but we have no choice, without it, she won't be walking. She is well able to run around with her friends at a distance,” she adds, saying that Maisie, who is in Junior Infants in Ballinamere NS, loves school and her friends there.

Asked to describe her six-year-old daughter, Shauna laughs: “She's stone mad, she's like a performing monkey or an acrobat. She's everything she shouldn't be but she's very happy. Her drive and her want to get better is remarkable”.

She is constantly educating young and old about her condition, and is really a great advocate for herself, her proud mother adds.

“She's a special kid. She's got a little star quality. I've never met anyone put off by her energy,” Shauna points out, saying that they take everything day by day now and hope for a positive future.

Her biggest concern at the minute is the possibility that Maisie could pick up Covid-19 because being on immunosuppressant drugs for three years means she picks up every infection going and could get really sick.

Shauna is of the view that children with illnesses and their families have been forgotten about in terms of vaccinations, and with schools reopening it can be hard for her to know what to do when you're juggling concerns about Maisie's social skills, education and health.

While she understands a paediatric vaccine has been trialled, there are no results yet. In the meantime, Shauna cannot understand why she and family carers cannot get the vaccine to lessen the risk for Maisie.

“If I were a paid carer of a vulnerable person I would be getting vaccinated in March. Because I'm her mother I don't get the vaccine. It's mad really,” she says, appealing to politicians to think about vulnerable children and their parents. As it stands, Shauna says she and Maisie will be in the last group to get the Covid-19 vaccination.

This is just one of the many issues discussed in the Rare Ireland network, and Shauna encourages other parents to reach out and get involved.

She pays tribute to her own friends, family and the people of Tullamore for their endless support through some hard times. Shauna is also hugely grateful for her daughter's school for their support and vigilance in terms of infections coming in or things like chickenpox so that she's notified quickly and that “community effort” keeps Maisie safe.

To get in touch with Rare Ireland, email: rareireland@gmail.com or see 'Rare Ireland' on Facebook.