“When he was born he was a healthy nine pounds and was 10 days overdue,” says the mother of two who lives in Rahylin Glebe, Ballybane. “He got pneumonia when he was 11 weeks old and was in hospital for a week. It was thought he had meningitis originally so pneumonia was a good diagnosis after that. He got over it and developed normally. If anything he was ahead of what was expected - he walked at 11 months. He was a chatty child who loved to go out.”
Ethan began to get colds and ear infections on a regular basis before he was a year old. “He was chesty all the time,” recalls Geraldine. “My mother told me he shouldn’t be getting so many chest infections. He was always on antibiotics. He had grommets in and out of his ear five times by the age of four.”
She began to notice gradual but worrying changes in Ethan’s appearance and behaviour from when he was 18 months old.
Forgetting everything
“From age two to four he began forgetting everything he had learned. His face changed. He was getting pudgier rather than losing his baby fat. His belly began to stick out.”
There were other major changes, too. “His balance went, he was stumbling around. His hands began to curl in and he started to walk on the ball of his foot. He began losing his speech and abilities. He stopped talking before his second birthday. Before this he had been able to say sentences and tell you who he was. Later he forgot all this. He wouldn’t say his name. A lot of it was he was going deaf. He was getting angrier and angrier, also.”
Geraldine was nearing the end of her tether. She knew there was something wrong with Ethan but was finding it difficult to convince others. Many saw her as an over anxious young mother - she was 20-years-old when she had him. One day while attending UHG’s ear, nose and throat department with Ethan she insisted on seeing a paediatrician. “I said I was staying there until he was diagnosed.”
The doctor took some blood tests and told her he would have the results in three weeks. “He didn’t make me feel worried. Three weeks later he rang me and told me to bring someone else in with me. Me and Ethan’s dad went in. He told us Ethan had MPS Type 2 which is Hunter’s syndrome, a genetic disease usually passed from mother to son - there are only three girls worldwide with it and 2,000 boys. I’m a carrier but I show no effects because I’m female. There are five boys with it in this country - a good few are in Galway - and one girl.”
Tremendous shock
The diagnosis came as a tremendous shock but there was also a sense of relief that now she knew what was wrong with her eldest child.
“It was a shock diagnosis. I didn’t think ‘why me?’ Now I knew what I was dealing with. I was only 20 when I had him and when I was worrying [about the changes in him] I was told I was an over anxious mother. I had five years of knowing something was wrong.
“It took so long to get a diagnosis because the disease is so rare that a doctor can easily miss the early signs of MPS. It took a lot of us telling the doctors that something was wrong. The doctor here in Galway who tested Ethan for MPS was great. He had experience with MPS and knew what he was looking for in Ethan.
“We hope there will be a cure. When your child is born you have a beautiful baby but two years later everything is different. By the time the child is 13 or 14 years he could have regressed to nappies and could be being fed with tubes. When Ethan was diagnosed the doctor said there had been a breakthrough in the last two years. They can now replace the enzyme once a week. Ethan is on enzyme replacement therapy, the infusion goes into his body in hospital over five hours.”
Improved greatly
His health has improved greatly since he began the treatment. He is more energetic, gets fewer colds and infections and is “more alive”, according to his mother.
“He has been on it since September and since then he only got a chest infection once. Before this he would be wheezy, sick and coughing a lot. He has way more energy, also. His organs have reduced in size too and he is more alive and not so afraid. He can run around but he gets tired faster than other children. All his joints are locked together so he can’t walk or run very far. His hearing and speech are severely affected as well. Changes in routine upset him, he likes things to be the same.”
Yet despite the limitations imposed by Ethan’s condition he continues to make the most of life. Geraldine says he is a “real trooper” who “doesn’t seem to notice there is anything wrong with him”.
What is Hunter syndrome/MPS2?
Hunter syndrome or mucopolysaccharidosis II (MPS 2 ), is a serious genetic disorder that primarily affects males, explains Geraldine Smyth.
“It is caused by the body’s inability to break down and recycle certain elements in the body called mucopolysaccharides, also known as glycosaminoglycans or GAG. This builds up in cells throughout the body due to an enzyme which is absent in Ethan’s body.
“This build up interferes with the way certain cells and organs in his body function and leads to a number of serious symptoms. Physical manifestations for some with MPS2 include distinctive facial features such as a large head and an enlarged abdomen. People with MPS2 may experience hearing loss, thickening of the heart valves leading to a decline in cardiac function, oobstructive airway disease, sleep apnoea and enlargement of spleen and liver. In some cases, MPS2 can lead to developmental delays and nervous system problems.”
Hunter syndrome does not effect each person in the same way and the rate of symptom progression varies, widely, she explains.
“However, what we do know is that Hunter syndrome is always severe, progressive and life-limiting. Sadly this is a fact. Our little man has a lot of those symptoms and it took five years of going from pillar to post to get answers but we got here. This is not about the past
