Boy Suffers From Rare Genetic Disease Meaning He Has No Immune System

Boy, 11, Has No Immune System
|

An eleven-year-old boy suffers from a rare condition that has left him with no immune system.

Jack Buchanan suffers from tricho hepato enteric (THE) syndrome which has "only ever been reported 44 times worldwide", according to Genetics Home Reference and is reportedly the only person in Britain to suffer from the disease.

He has to take antibiotics daily and have weekly blood transfusions to prevent himself from getting ill.

"It's really hard," Jack's mother, Jaime Jones, 32, from Bristol said. "No parent should have to look at their child and wonder how long they have left.

"It's very isolating as well, I've spoken to other parents in America and Australia whose children have the same condition and they find it very difficult because there are no support groups out there."

Open Image Modal

Jack Buchanan has to have weekly blood transfusions

Jones said her son has spent a lot of time at Bristol Children's Hospital since he was born.

"When he was first born we realised something wasn't right because he wasn't feeding properly or putting on weight," she explained.

"He had to be put on a feeding machine, like a drip, for 20 hours a day but for a long time doctors weren't able to say what he had."

It took doctors eight years to discover the cause of Buchanan's health problems.

Jones said she was desperate for a diagnosis but it was not until a specialist mapped out Jack's genes that they found a mutation that identified the rare condition.

People that suffer from THE typically have facial features with low-set ears, prominent eyes, broad flat nose, prominent forehead and a large mouth. At the moment there is no cure for the disease.

"His condition means he gets tired very quickly and becomes ill if he over exerts himself," Jones explained.

"He is at constant risk of infection, so needs to make sure he gets enough rest to stay healthy."

Open Image Modal

Jaime Jones (L) said she was "desperate" for a diagnosis for her son Jack

Every day Jack has the antibodies from 1,000 people injected into his legs.

The treatment is based on the idea that using samples from a large group of people, many will have been infected by the majority of illnesses, so Jack's body can then use their antibodies to fight germs.

Jack is only able to attend school because teachers have granted him permission to sleep in a special room if he gets tired.

"It is hard for him because a cold can soon escalate into a three week hospital stay," his mum continued.

"His school has been great and they have plans in place to help him. Sometimes lessons like PE might be too much for him because he can get tired very easily but everyone is very helpful."

Jack and his mother are now organising a non-uniform day to raise money for The Grand Appeal at Bristol Children's Hospital to thank the doctors and nurses who have cared for him.

The day also coincides with Rare Disease Day.

"We saw that Monday 29 February was Rare Disease Day and it seemed like a great time to support The Grand Appeal while helping raise awareness of such rare conditions like THE," Jones said.

"We are so grateful to Jack's school, Ashton Park, who have played a massive part in helping build his confidence and include him in all their activities, making any adjustments needed.

"Luckwell Primary School, where Jack's brother Ellis is a pupil, is also taking part and we hope to raise as much as we can to support The Grand Appeal."

Laura Madams, community fundraiser for The Grand Appeal, said: "Every penny that The Grand Appeal raises helps us to make sure Bristol Children's Hospital can provide the very best care possible to young patients like Jack.

"We are very proud of the amazing doctors and nurses we have on our doorstep here in Bristol, who have the knowledge and expertise to care for children with such rare conditions."