Rare Disease Day: ‘They couldn’t figure out what was wrong’

When Nikki Lynch was pregnant with her third child, everything seemed to be going according to plan. She already had two children (Charlie, now 13, and Lucy, now 11) and both were fit and healthy. So Lynch and her husband, Derek, had no reason to suspect things would be different when their last addition would arrive.

But about an hour after a normal delivery, the hairdresser from Meath noticed that her new baby, Tom (now eight), appeared to be shaking all over. Doctors were unable to provide a reason and after blood sugar and temperature tests – among others – seemed normal, his arms and legs were still trembling.

“Everyone was baffled as they couldn’t figure out what was wrong,” says the 39-year-old. “He was moved to the special care unit, but he appeared to be a normal weight and was feeding fine. However, the trembling continued, so when he was nine days old he was transferred to a children’s hospital.

“This was the first time I began to worry as I always thought this was the place children were sent to when the situation was very serious. We became increasingly anxious as more tests were done, but everything kept coming back clear – until he had a lumbar puncture which showed an alarmingly-high level of protein in the fluid. The doctor said that he had never seen it that high in a child and it was possible that he could be brain damaged, but we wouldn’t know the extent of his problems until he began to grow. Needless to say, we were utterly devastated.”

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The tremors continued until Tom was five months old. But he also had hypotonia – also known as “floppy baby” syndrome – and didn’t reach his major developmental milestones. When he was almost three years old, electrical tests of Tom’s muscles and nerves were carried out, but again no major issues were detected.

It would be seven years from the first medical tests he underwent as a newborn when Tom would finally be diagnosed and have a name for the condition he had endured since birth: Dejerine-Sottas syndrome (DSS). It is an extremely rare disorder, which, according to his mother, doesn’t affect anyone else in the country.

Awareness

February 28th is Rare Disease Day and aims to raise awareness for the 300 million people around the world who, like Tom, suffer from an uncommon condition.

After his initial assessment, the little boy was enrolled in a programme for rare diseases that uses cutting-edge genomic research to suggest clues to the underlying genetic causes of some of the most obscure and little-known diseases in the world. So it was with the help of genomics that the research team eventually identified an abnormality in the MPZ gene, confirming a peripheral nerve disorder linked with DSS.

For the first time in six years, after dozens of hospital visits and tests, the family were finally able to put a name to the condition which Tom had lived with since birth.

DSS is a neurological condition which affects movement due to spinal nerves becoming enlarged or thickened, which leads to many issues such as spasms, seizures, muscle weakness and more.

Unfortunately, the diagnosis did not suggest a treatment or a cure, but it did provide the family with reassurance, clarity and the opportunity to plan for the future. “We got the diagnosis for Tom in 2019 and it was really good to finally have a name for what is wrong with him,” says Lynch. “In reality, nothing has really changed for him, but it gives us some understanding of what is going on. But, having said that, it was very difficult to discover that he has something which so few other people have. In fact, I don’t think anyone else in the country has the same condition.

“However, we were still very happy to put a name to it and be able to look towards the future.”

Cheerful

The mother of three says her youngest child was always happy and although he didn’t meet developmental milestones as a baby and didn’t sit up until he was 10 months old, he remained cheerful. “He also had difficulty with feeding until we discovered he had silent reflux which was causing problems,” she says. “But when we got some medication for that, it improved immediately.

"We engaged with Enable Ireland at the very beginning and he began getting speech and physio sessions, but it was only once a month. So, as his muscles were very weak, we knew we needed to do more for him.

“I found a specialised rehabilitation clinic in Limerick, which was ideal, but he needed to be seen every day, so I moved down there with him and stayed in a rented house during the week, while Derek looked after the other two. Tom and I would go back home on a Friday and return again on Monday. It was very difficult, but it had to be done.”

Eventually Nikki found a similar clinic in Navan and up until the Covid-19 pandemic began, her youngest child had a regular routine which involved going to school and attending physiotherapy three times a week. He had progressed to using a walking frame, but unfortunately he regressed in 2019 and has since been confined to a wheelchair.

He remains a happy and engaged little boy, however, and is looking forward to restrictions being lifted so some sort of normality can resume. “Tom was doing great on the walking frame but then in 2019, after he got the flu jab, he just stopped and hasn’t put a foot on the floor since,” says Lynch. “He is now in a wheelchair all the time, but we recently got him an electric one which means he has some sort of independence as he can go from room to room by himself. He has also started therapeutic horse riding, which is fantastic. Once he is put in a sitting position, he can stay seated and he really loves it.

“We can’t wait for everything to get back to normal as he has had his confidence knocked a bit by being at home all the time – and although he usually loves his routine, it will be difficult to get him back into it.

"He is a huge fan of the GAA and soccer and doesn't care who is winning or losing, as he supports them all and just wants to collect all the jerseys. He is also very sociable and really involved in the community and, pre-Covid, he loved going to all the club and county games with his dad and his brother. So after the pandemic is over, we want to bring him to England to a soccer stadium.

“Tom is a great boy and a happy child and as soon as things get back to normal, we are hopeful that he can continue doing all of the activities he loves.”