'We were staggering from one crisis to the next' - Sorcha (20) on life with an extremely complicated medical condition
Science student Sorcha McElchar has an extremely complicated medical condition. But she tells Joy Orpen, she is leading a very full and productive life, thanks to her medical team and to recent advances in treatments
Having a chronic medical condition can be tough, very tough. But imagine having to live with not just one, but several conditions simultaneously. It's almost unthinkable, but that's the stark reality for Sorcha McElchar, 20, who comes from Drumdoit, near Lifford in Co Donegal.
Her parents, Jacqueline and William, had no idea that they were facing an extraordinarily rocky future when Sorcha, their first of their three daughters, was born. "The pregnancy and birth were perfectly normal," says Jacqueline, a civil servant. "The baby met all her milestones. In fact, she was always ahead of the game." She illustrates this point with a story. When Sorcha was still a toddler, her aunt heard her babbling away. She assumed it was baby gobbledegook. But later she discovered her two-year old niece had been counting from one to 10 - in Swahili. She had learned to do so from Barney, a video for children.
Around this time, Sorcha began to experience eye problems. "I can remember crawling from my bedroom to the landing," she says. "I couldn't open my eyes, they were so sore." Their GP discovered ulcers in the toddler's eyes and referred her to Temple Street Children's University Hospital. Following tests, she was given drops, which worked well.
Things went fairly smoothly until Sorcha was four, when one morning her body went into spasm. "I had terrible pain from the cramp," she remembers. Her mother says they were very shocked when they couldn't unclench her little fists. So, they rushed her to the after-hours doctor, who diagnosed a severe calcium deficiency.
Sorcha was soon on a drip at Letterkenny General Hospital. "Within half an hour she was sitting up in bed, drawing," says Jacqueline. A week later, she was transferred to Our Lady's Children's Hospital in Crumlin, where she was diagnosed with a very complicated and potentially fatal condition called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, or APECED for short.
This is an inherited autoimmune disease that can cause problems in various parts of the body, including the skin, nails, eyes and digestive system, as well as all the endocrine (hormone-producing) organs, including the ovaries, thyroid, parathyroid and adrenal glands. Type 1 diabetes also occurs in some patients with this condition. According to one particular website, APECED affects about 1 in 90,000 to 200,000 people in Europe, while being more prevalent among Iranian, Jewish, Sardinian, and Finnish people.
Sorcha says APECED can occur when both parents have a mutation in the AIRE gene, which is responsible for regulating the immune system. Having this condition means she has to deal with a plethora of health issues. By her own reckoning, she has seven distinct problem areas. For example, her parathyroid glands, which affect the supply of calcium, are faulty. Calcium is not just essential for strong bones and teeth, it is also important in regulating muscle contractions, including the heart and in ensuring the blood clots normally.
Sorcha also has a problem with her thyroid gland (no relation to the parathyroid) which is responsible for the speed at which body cells work. Meanwhile, a malfunction in her pituitary gland slowed down her growth. She has Addison's disease, which prevents the production of corticosteroids - crucial when under stress - while a pancreas malfunction means she has Type 1 diabetes.
All of these problems are compounded by a serious intestinal malabsorption issue, which stops Sorcha getting vital nutrients from the food she eats.
"All through her childhood, we were staggering from one crisis to the next," says Jacqueline. "We were always watching, always on the alert, in case something else was manifesting. We were up and down to Dublin all the time; to Temple St for her eyes, and to Crumlin and Letterkenny for everything else. A couple of times she's been dangerously ill, and we feared we'd lose her. But she has also been very quick to bounce back."
"Sorcha is a great girl, she never complains," says her proud dad William. "But if it hadn't been for the wonderful staff at all three hospitals - doctors and nurses alike - she wouldn't be here now. We are also immensely grateful to family members who step in when we have to rush her to hospital."
One of Sorcha's most difficult issues has been the malabsorption of food, which has caused constant weight problems. At one point recently, she weighed only 26kg (she's almost five feet tall). So, her medical team decided to put her on a feeding system called total parenteral nutrition (TPN). Every night she gets a special solution containing, protein, fat, carbohydrates, electrolytes, vitamins, minerals and trace elements. She receives these through a Hickman line inserted into a blood vessel in her chest. Sorcha and her mother had to be trained at Crumlin before they could to do it at home. "Everything has to be extremely sterile," says Sorcha, "and I have my bloods checked at the time."
This system has worked wonders. "I now weigh 45kg, which is normal," she says. "Mum helps me to do my bloods and fluids at home. So, I'm spending much less time in hospital, which means I catch fewer infections. And I am stronger and have much more energy."
Feisty Sorcha, who is never short of an amusing quip, is now making up for lost time. In spite of missing so much schooling, she achieved 485 points in her Leaving Certificate. She is doing a degree in science and nutrition at Letterkenny Institute of Technology. She had planned to do a post-graduate degree in dietetics at Coleraine (Ulster University), but with Brexit on the cards, she thinks it more likely she will study in Dublin.
In the meantime, Sorcha, who used to have no energy to do anything outside of school, now keeps busy dancing, playing the piano, the guitar, and singing in a choir. During the summer, she will work as a volunteer at Barretstown - a camp for seriously ill children, and also for a kids' camp closer to home. She's looking forward to a Shawn Mendes concert.
Sorcha will continue to be monitored by the intestinal failure unit at Crumlin - a hospital for children - because there is simply nowhere else for her to go. That is why the Irish Society for Clinical Nutrition and Metabolism (IrSPEN), is calling for an adult intestinal failure unit to be established at St James's Hospital, Dublin.
"Some 80 to 100 people are diagnosed with intestinal failure every year in Ireland," says Professor John Reynolds, chairman of IrSPEN. "We estimate there are between 12 and 20 avoidable deaths every year in Ireland in patients with intestinal failure, due to the lack of any provision for adults within a tertiary centre."
Irish Society for Clinical Nutrition & Metabolism, see irspen.ie