The mum of Ryan Brissett, three, from Bracknell, is working urgently with blood cancer charity DKMS in a desperate bid to find a lifesaving blood stem cell donor. Ryan suffers from a rare life-threatening and life-limiting genetic condition called chronic granulomatous disorder (CGD).
The condition prevents white blood cells, which help the body to fight infections, from working correctly. CGD leaves the body vulnerable to frequent bacterial and fungal infections, and patients need to take daily medication to stay healthy.
Every 20 minutes someone in the UK is diagnosed with a blood cancer – those that affect the body's bone marrow, blood or lymphatic system - such as leukaemia, myeloma or lymphoma. Yet, just 2% of the UK population is registered as potential blood stem cell donors.
Ryan’s mum, Hannah Hunt, 25, said: “My pregnancy was very healthy. Ryan was born at exactly 40 weeks. He was a huge baby weighing in at 9lb 14oz.”
A few hours after Ryan’s birth Hannah was concerned for her baby. She said: “I noticed he had heavy breathing and had what looked like milk spots in the creases of his skin. They looked abnormal and he spent two days in Frimley Park Intensive Care Unit.”
Ryan was treated with antibiotics for a suspected infection. He was discharged from hospital a few days later, but in the weeks that followed, Hannah felt that her son wasn’t behaving in the same way as other babies of the same age.
The mum-of-one said: “We spent about three weeks at home and within that period I took him to the GP three times because he kept having blood in his stools, projectile vomiting all the time and he wasn’t feeding properly.”
Weeks later, Ryan was admitted through A&E with a suspected chest infection. After several scans, lesions on his lungs were detected and were rapidly growing.
Some lesions can be benign (non-cancerous), whereas others can be malignant (cancerous). Ryan was immediately transferred to Great Ormond Street Hospital (GOSH) because the lesions had to be dealt with as if they were cancerous. A lung biopsy was conducted and double Hickman line was put into the main artery of his heart.
Hannah said: “Eventually, cancer was ruled out and he was diagnosed with CGD. Obviously, me and Ryan’s dad were ecstatic. However, it was explained that Ryan had X-linked CGD, which is inherited by the X chromosome, from my side.”
Typically, women have two X chromosomes while males have an XY pairing. Women that have a defective gene present on one of their X chromosomes are ‘carriers’ for that disorder. Males have one X chromosome that is inherited from their mother and if a male inherits an X chromosome that contains a defective gene he will develop the disorder.
Hannah added: “I didn’t know I was a carrier, which explains a lot of things that I’ve grown up with which the doctors couldn’t explain. It made a lot of sense, but the guilt that came with it, still to this day is horrendous knowing that I gave my child this illness unintentionally.”
For those with a blood cancer or a rare blood disorder diagnosis, a blood stem cell donation from a genetically similar person can be the only option for survival. Without it, Ryan has to take several medications every day; side effects can include liver and kidney failure.
Hannah said: “Without a blood stem cell donor Ryan can’t lead a normal life. He can’t enjoy outdoor spaces because exposure to hay, wood chips or rotting plants should be avoided.”
CGD patients should also steer clear of long grass, farms and mould. Ryan’s illness means he has to attend hospital appointments and obtain treatment continuously.
Owing to Ryan’s mixed race background (mum white British and dad Jamaican, Arawak Indian & Syrian), he has more difficulty finding a matching blood stem cell donor. Patients from black, Asian or other minority backgrounds have a 20% chance of finding the best possible blood stem cell match from an unrelated donor, compared to 69% for northern European backgrounds.
Blood stem cell matches are determined by HLA typing (tissue typing) and there are thousands of HLA characteristics in millions of combinations.
We inherit half of our HLA markers from our mum and half from our dad. This means our siblings have a 25% chance of having exactly the same HLA characteristics. However, Ryan is an only child, which meant the pre-schooler joined the other 2,000 people in the UK each year searching for a stranger to give them a second chance of life.
Hannah said: “DKMS has conducted a global search, but so far a match hasn’t been found for Ryan. I just want my little boy to live a ‘normal’ life. To play outside unrestricted and one day be able to visit his beloved Arsenal at the Emirates Stadium. Ryan was totally over the moon when Arsenal sent us a signed t-shirt after hearing about his story. We’re so thankful to them.”
Growing the register
Jonathan Pearce, chief executive of DKMS UK said: “Ryan, and others like him, is what has inspired DKMS to grow into a global organisation, committed to providing every patient in need with a lifesaving blood stem cell transplant.
“As we celebrate our 30th anniversary, we are proud as one of the younger members of the DKMS family that we have increased the donor pool by adding 850,000 potential lifesavers to our collective 10.7 million donors.”
On 28 May, DKMS celebrates a day of awareness - World Blood Cancer Day and 30 years since the charity was founded.
How you can help
If you’d like to register as a potential blood stem cell donor you can check your eligibility and request a home swab kit today.
Anyone aged between 17-55 and in general good health can go on standby as a potential lifesaver. If you're not eligible or you're already registered, why not check the other ways to get involved in the fight against blood cancer or help us cover donor registration costs?