'We are in this for life'
Treating her son like a normal eight-year-old boy despite his rare genetic disease is part of her job as a parent, says Anne Maire O’Dowd. This is her story as told to FIONA TYRRELL
MY SON Luke has a very rare condition called cystinosis. Only about one in every 250,000 people is affected by this condition, so there’s a higher chance of winning the lottery.
Cystinosis causes the accumulation of an amino acid called cystine in the body resulting in damage to organs and muscles of the body. The kidneys are the first organs to be affected with the damage starting from conception, but ultimately all organs are affected.
Luke was extremely fortunate to have an early diagnosis. We are lucky to live in a city with a children’s hospital. We were also very lucky that the paediatric nephrologist in the hospital had experience of this condition in the UK and immediately suspected that Luke had the disorder.
Most consultants would only have come across a paragraph about cystinosis in a medical textbook during training. The fact that he had lovely blond hair and blue eyes increased the consultant’s suspicion that he had the disease. These are common traits for children with cystinosis.
Often the condition goes undiagnosed for some time, resulting in even more damage to the organs.
Treatment for the disease involves taking a drug called Cystagon to remove the amino acid from the body. It has to be taken every six hours, even during the night. This does not stop the deterioration process but does slow it down. The earlier the treatment starts, the better the outlook.
His eyes are particularly affected because Cystagon does not remove cystine crystals from the cornea. Some patients take eye drops every hour to clear them. Luke’s eyes are intolerant of the sun and cause him a lot of pain, but it is hard for an eight year old to apply eye drops every hour.
There have been huge advances in medicine and people with the disease are now able to push out the need for kidney transplants.
Before Cystagon, a child with cystinosis would probably have needed a kidney transplant at about the age of 10.
Now with the treatment, people with Cystagon are still working on their own kidneys well into their late teens or 20s. This gives me the motivation to get up in the middle of every night to give Luke his medication.
Cystagon, however, is a very severe treatment and children in particular find it very hard to tolerate.
Luke’s early years were very difficult. Like many other children with the condition, he experienced lots of gastric problems, even when he was sleeping.
In this period he did not grow and had to be fed by tube. He also had rickets and only started to walk when he was two years old. There were many consultations with speech and language therapists, psychologists and dieticians.
Once Luke stabilised my husband Des and I had time to look at the bigger picture of life with a rare disease. Luke is one of only nine people with this cystinosis in the State.
While it is uncommon for an individual to get a rare disease, there are lots of diseases that are classified as rare. About 140,0000 people in Ireland are affected by a rare disease.
For these people the most pressing issue is access to treatment and diagnosis.
Treatment can often be difficult to access because there is little incentive for pharmaceutical companies to commit money to research when there is no money in it for them. Governments are also slow to get involved.
We were involved in the establishment of Cystinosis Foundation Ireland six years ago. It is a totally voluntary organisation set up by two sets of parents. Last year the foundation hosted the international cystinosis conference which involved more than 200 people.
We raise funds for research projects. We are currently funding four different projects. One project in UCC Cork (part of the MRCG/HRB joint funding scheme) is looking at designing a gene repair kit for the disease. Another project in UCD is looking at how and why the kidneys get damaged.
We have committed to funding €300,000 worth of research in the next three years. Because we are voluntary and we have no overheads, every penny people donate goes directly to this research.
The Women’s Mini Marathon is a big earner for us and we are running a night at the dogs in Dublin on April 9th.
It is important that research into the condition continues. A few years ago scientists in France discovered the gene that causes cystinosis. That was a big breakthrough. Scientists in the US are working on a slow-release treatment, which would be a great boost for people with the disease.
The great thing about medical research is that findings from one area can be translated to other areas.
Some discoveries in rare diseases have translated across to much larger diseases.
In Ireland we don’t have a national plan for rare diseases and we have no centre for clinical excellence in rare diseases. So many organisations like ours are working away on their own. We are all trying to make ourselves visible and competing against each other as well as the large well-known diseases for funding.
Now aged eight, Luke looks like any other little boy. He loves adventure and action, goes to school and has a very happy life. We get great support from his school, Monkstown Educate Together National School.
Still, he has to take medicine every day and for the rest of his life. He has many hospital appointments.
His future is uncertain but that’s true for any of us. Like the majority of those with the disease he faces the prospect of dialysis and transplant.
As parents, part of our job is to ensure he gets his medicines and all the resources he needs. Our job is also to treat him just like the eight-year-old boy he is and get on with life raising our other children, Meabh (12) and Honor (10).
People often say to us “you are great for doing all this” but we feel that there was no choice. It was the next step for us as a family. We are in this for life.
If you have had a health experience – good or bad – that you would like to talk about, contact: firstname.lastname@example.org