Seven-year-old Alfie Smith can be killed by drinking a glass of milk or even eating a cheeseburger, which most kids his age might do on a daily basis. Unfortunately, Alfie has a rare disorder called Glutaric Acidemia. This disorder makes eating more than 19 grams of protein in one day potentially fatal, according to Lagos Today.
Alfie eats a very controlled, stringent diet which limits the amount of protein he eats, because if he ingests too much protein, it may damage his brain. His mother, Michelle Whelan, 40, from Awsworth, Nottingham, states the following, according to the Mirror.
“It’s such a juggling act. Even vegetables like broccoli and potato have protein in. It’s so hard to calculate the right amount because he still really needs the amount he can have. One of the reasons he can’t walk is that he can only have so little protein, his leg muscles are weak.”
Whelan noted that Alfie’s condition was discovered when, at one-year-old, he failed to develop properly for his age and his arms were “floppy.” He then had tests at Nottingham City Children’s Centre. It was discovered that he was suffering from Glutaric Acidemia type 1. Although she did not know that her son had the condition prior to that time, Whelan noted that she felt guilty that she breast-fed Alfie and gave him yogurt — with its protein — at six-months old.
Both of Alfies parents — Whelan and her husband David Smith — carry the Glutaric Acidemia gene. But the condition is extremely rare, as only one in 40,000 people have the condition. The condition means that the body has lower than normal levels of the enzyme that breaks down protein. Alfie has even had surgery so that his muscles won’t waste away.
His parents are attempting to raise money for Alfie to receive pioneering physiotherapy in Slovakia so that he will be able to learn to walk. The charity Tree of Hope, which assists parents trying to provide medical treatment by specialists, is also helping. Whelan stated the following, according to the Mirror.
“Without it, he might never learn to walk. He’s all there in his brain, but his little body and legs don’t work.”
Now, she feeds Alfie protein spread out throughout the day. Like other children his age, he gets upset if he can’t have the protein he wants, like a cheeseburger — especially if he sees someone else like his sister eating it and he can’t have it. After all, like other children, he wants to fit in. Whelan stated the following regarding Alfies’s day.
“He gets upset when his dad and his sister are having burgers. Even when he’s crying for it, I have to explain why he can’t have it. He just wants to be like everyone else….[Normally, h]e’s such a happy, cheeky boy. He’s the one who keeps us going.”
Alfie goes to a regular, mainstreamed school and takes part in sports. For now, however, he needs to play in a walker with wheels. But his mother is hopeful that, some day, he will be able to run around on his own. The condition is so rare, they don’t know what the future holds. Right now, even a cold could pose a life-threatening metabolic crisis because he wouldn’t be able to eat and would become too frail.
If they raise the money, the treatment would entail four weeks of intensive physiotherapy for six hours each day. Additionally, he would have another treatment of hyperbaric oxygen therapy, which is breathing in pure oxygen. And Whelan believes that the supplemental treatments in addition to the surgery Alfie had could lead to his being able to walk.
Children can also inherit other rare conditions. Simon Moore, 30, was born with Treacher Collins Syndrome. Treacher Collins Syndrome affects one in 50,000 babies and is characterized by craniofacial deformities such as the absence of cheekbones. He is also profoundly deaf. As a result of his differences, he has faced cruel abuse throughout his life. He and his wife knew when they had their child that the baby could be born with the same syndrome, but they decided to have the baby anyway, according to an article in the Inquisitr.
[Photo by Joe Raedle/Getty Images]