Every parent knows the worry caused by having a sick child. But having a child with a rare or undiagnosed condition must be incredibly stressful. This Sunday February 28 is Rare Disease Day and aims to raise awareness for the 400 million people around the world who live with an extremely uncommon condition.
Ten-year-old Sam Grant is one of those children. When he was born, his mother thought he looked a little strange and was worried that there was something wrong, but everyone told her that she he was fine, and any issues were likely to be due her new baby reacting to the shock of birth.
“I had a totally normally pregnancy with no issues whatsoever,” says mum, Hilda. “I went into labour at 38 weeks and the only thing which was different to my other labours was that during delivery, the doctor said my baby was in distress and contractions were causing his heart to accelerate, so an emergency Caesarean section was done.
“He was then taken to ICU as I was told he was a bit ‘shocked’ after the birth and would be brought back to me in a short while — this was at 12pm and I didn’t see him again until 5pm.”
Naturally anxious to see the new arrival, Hilda, who has three other children — Hayley (23), Jack (20) and Ava (15) — asked her husband to go and take a photo of him. But when she saw the result, she couldn’t shake the feeling that something was wrong.
“Throughout my pregnancy, I was being told all the time that my baby was very big, but when he was born, he was only 6lb 9oz, so that was the first time I thought something wasn’t right,” she says. “Then when I saw the photos of him in ICU, I really thought he looked very strange — he wasn’t like a newborn and didn’t look like any of my other children.
“I was told that there was nothing wrong and that he was just reeling from the birth as he didn’t need oxygen or anything. But he was a very poor feeder, so they had to insert a tube and he just cried relentlessly. When I went to see him again the next day, he looked the same and when I said it to the staff, they thought that maybe I wasn’t bonding and had postnatal depression. But when things hadn’t changed by the third day, they said they would do a load of tests on him just to be sure.”
It would take seven weeks for the test results to come back and during that time, Hilda went home with her new baby, still convinced that something was definitely wrong.
“I was in a black hole for the entire time that I was waiting for the results,” she admits. “I brought him back to the maternity hospital every week as I was sure that there was a problem, but each time, I was told that he was fine. They advised me to build up his neck muscles by giving him more tummy time as he was very floppy — but said there was really nothing to worry about.
“And when the results came back, they didn’t show anything wrong at all — so the maternity hospital told me that they didn’t need to see him again and he was given the all-clear. I began to think that it was all in my head and that maybe he was just a crier, but I couldn’t shake the feeling that something was wrong.”
Not long after Sam had been given a clean bill of health, the mother-of-four was feeding him and says when she put him down afterwards, his skin turned grey and mottled and in sheer panic, she rushed him to hospital.
“As soon as I arrived, we were rushed through triage and into resuscitation where one of the nurses told me that he was seriously ill,” she says. “She said she didn’t know how I had managed to keep him at home for the past eight weeks as he would need to go straight to ICU.
“I was torn between feeling devastated to hear that he was so ill and also relief that someone was finally agreeing with me that something was wrong. They discovered that he had been aspirating his milk and it was going straight into his lungs. He also had pneumonia. He had a whole host of other tests, with the result being that he was too sick to return home for the foreseeable future.”
In fact, the little boy would remain in hospital for a year, with the exception of one afternoon, a month after he was admitted.
“He went into hospital in October and they let me bring him home in November for the day, but I ended up having to do CPR on him so rushed him back to hospital,” says Hilda. “They said they didn’t think I could look after him at home and they were right, so he was kept in. I spent every minute of every day there with him and it was so hard that I started to crack up a bit as I was away from the other children, and poor Ava was only five and had just started school.
“The Jack and Jill Foundation got involved then and tried to get a home package organised for me so I could bring Sam home for a few hours during the day. That took some time, but in June, I began bringing him home in the morning and then back to the hospital again in the evening.
“This carried on until he was finally discharged almost a year after being admitted — as during that time, they discovered more and more issues and he also developed a lot of infections, including swine flu, so it took a while for him to recover.”
In the decade since the Dublin boy was born, he was diagnosed with various different conditions, but it wasn’t until September 2020, just after his 10th birthday, that the reasons for all of his issues was discovered.
“Sam has global developmental delay, low muscle tone, epilepsy, sleep apnoea, is oxygen dependent and has respiratory and feeding problems,” says Hilda, who use to work as a special needs assistant.
“We didn’t know the cause of his issues and in the early years, he seemed to develop more conditions and problems all the time. But he has a very high pain threshold and is always smiling and happy.
“He was finally diagnosed last September after his 10th birthday and it was discovered that he has a mutation in his HCFC1 gene, which causes learning difficulties. From time he was born, I thought no-one was listening to me, so it was good to finally get a diagnosis.”
Several years prior to being diagnosed, Sam started intense physiotherapy at First Steps Therapy in Limerick. “They worked very hard on Sam and it was tough to watch him struggle, but over time he became stronger, his muscle tone improved, his respiratory problems eased, and he no longer spent any time in hospital,” says Hilda.
“He became healthier and began walking with his Kaye Walker, which was great as he loved the independence it gave him. After a while, the drive to Limerick took its toll on me so we began attending the Brain & Spine Physiotherapy Clinic in Navan and he continued to thrive there.
“Today, he has outgrown his epilepsy and sleep apnoea and has been discharged from neurology and respiratory clinics. He now eats and drinks normally and can walk and run independently. He is cheeky, mischievous, and full of fun and makes us all laugh every day. He is the light of our lives. I have always said that he can’t speak but he has a lot to say — he communicates with Làmh sign language and has a few words. And he understands everything we say to him. He loves school and his teacher and stops to wave at everyone — he is very sociable.”
Last September, Sam moved from his ‘Severe Intellectual Disability’ classroom, to the ‘Moderate ID’ group, but the pandemic has taken its toll as he is missing his routine and his school life.
“Sam isn’t sleeping and cries to go out,” says Hilda. “He signs ‘teacher’ and ‘school bus’ to me a lot and doesn’t understand what is going on. So he has regressed, and his behaviour can be quite challenging. His siblings are all learning from home and it is very difficult to study with him around as he is very loud and wants to be involved in everything — so I have to go for lots of walks and drives to keep him busy.
“But we are managing and my advice to anyone else who has a child with an undiagnosed disorder is to keep looking for answers as they are their child’s voice. Finally getting Sam’s diagnosis meant so much to me as to have a name for what caused his disability helped me enormously.
“I spent most of his early years worrying and blaming myself — and not knowing what lay ahead for him caused me a lot of stress and sadness. I can now move on and keep pushing him to reach his full potential. He is my pride and joy.”
For more information, check out rdi.ie and rarediseaseday.org
Health & Living