George’s life story

George’s story is told by his mum Rachel.

‘Our family has been personally affected by SCID.  Our baby son George Jack Carpenter was born with X-linked SCID, he died on 25th August 2011 at 11 months old, just 10 days before his 1st birthday. 

This is our sad story, please let me share it with you to give you an insight into why it is so important that this curable condition is detected at birth.

George, our second son, was born on 5th September 2010. He was a huge baby weighing 10lbs 8oz. He was very strong, alert and engaging. George had his routine heel prick test done when he was 6 weeks old and the results came back negative. George appeared very healthy, we had no concerns. He fed well, gained weight and thrived. We already had a son called Reece, who was 2 years of age.  Reece had been well and healthy, we had no idea that I was a carrier of X-Linked SCID.

The first few months of family life were great. We did normal everyday things.  I took Reece to toddler groups and we went and visited family and friends and showed off our new smiling, happy baby to everyone. A few months later it was Christmas. We shared a happy first Christmas together with George, we were very happy, we opened presents and enjoyed the day feeling blessed that we had 2 beautiful healthy boys. Had we known it was to be George’s first and last Christmas we would have been absolutely horrified.

Once George reached 5 months of age, at the beginning of February, things took a dramatic turn for the worse. I can only describe what happened over the course of the next 2 and a half months as utterly nightmarish. George developed a cough and cold that he just could not get over. This developed into a chest infection.

Despite going to our GP and having antibiotics prescribed George did not get better.  George began to develop breathing difficulties. This was very frightening and often he would become worse at night. During the whole of February and March and half way through April we were back and forth from the GP, to the out of hours “Grab a Doc” service and multiple visits to Accident and Emergency. 

In total we visited A&E 6 times during those 2 months, we visited the “Grab a doc” out of hours service twice and our GP 3 times and also saw our health visitor.  George was hospitalised on 4 occasions at our local hospital, Queen Elizabeth in Woolwich. Consultants were baffled; they couldn’t understand why George was repeatedly ill and having lengthy stays on the ward. The first and second admission was put down to bronchiolitis and the 3rd admittance was put down to pneumonia, but on the 4th stay they really didn’t know what was wrong.  They thought George may have whooping cough or Cystic Fibrosis so he was tested for these conditions but both came back negative.

During these 2 months of toing and froing and sitting for hours upon hours in A&E waiting room and in Grab a Doc centres and GP waiting rooms etc we were, unbeknown to us, exposing George to even more germs and viruses.

George began to rapidly lose weight. He had been a good weight at birth and had been on the 98th centile, which is just as well, as by the time George was finally diagnosed at 7 months he was on the 25th centile and weighed less than he did when he was 4 months old.

Now during these 2 months of consultants trying to reach a diagnosis George was growing weaker and I could see that he was wasting away. I had asked a consultant if George was dying and he laughed off my concern and said “Children lose weight when they are ill”.  I began to be afraid of the hospital discharging George home because he would become unwell within a few days of being home and I found the worry unbearable. I felt as though George was being pumped with IV antibiotics, he would perk up and then we would be discharged and then a few days later the nightmare would continue. George would struggle to breath and we would be back at A&E again. Even on our 4th admission the plan had been to get George well and send him back home while we wait for an outpatient appointment for the allergy clinic.  They had also referred him as an outpatient to Kings Respiratory and GOSH immunology department, although the immunology was being pursued as a sideline.  

I felt my world crash around me

There was no sense of emergency and I was worried George didn’t have time to wait. I took it upon myself to contact Kings Respiratory and GOSH and asked if they had received the referral letters. I found out after calling them that neither had received the referral letters. So I faxed the letters over myself and rang to confirm receipt. Once GOSH had the letter they acted on it and asked for George’s bloods to be taken and couriered to them. The next day we were transferred to GOSH where we received the most shocking and devastating news, George was diagnosed with SCID.  I felt my world crash around me! I had thought something was wrong but I had no idea how serious it was!  It was so shocking I had a panic attack and had to leave the ward to get some air.

Now during all of this my husband was still working full time and our 2 year old son was being passed from pillar to post while I was on the hospital ward or at A&E and sometimes Reece, our older son, had to come with us when we had to rush George to the Grab a Doc centre in the middle of the night. This put a huge strain and worry on the whole family.  The uncertainty of it all was very stressful.  Once George received a diagnosis even though it was terrible we knew that at least he would now receive the care and treatment he desperately needed and the diagnosis also confirmed to us that we were not going crazy, he really did have something wrong with him. 

By the time we got George diagnosed he was ravaged with infections.  He had PCP Pneumonia which can be fatal in SCID patients, he had influenza and he also had to cope with a horrible common tummy bug called “Rotavirus” which in people with a functioning immune system would just be a 24hr sickness bug but with George as his body couldn’t fight it he would have to contend with it until he had his transplant.

George was malnourished due to these illnesses.  His lung was also partially collapsed upon arrival to GOSH.  I had been breastfeeding George and unknown to myself my milk contained cytomegalovirus (CMV), which would be harmful to a SCID baby so I had to cease breastfeeding.

Over the next 6 weeks George was an impatient at GOSH he got over the PCP Pneumonia and was given gut rest and nourished back to better health.  We were discharged home to live in isolation while a donor could be found on the register.  A 10/10 match was found but the donor lived in Germany and it would take time to organise. We went home. I was scared to go home and after just 3 weeks George became unwell again. He began to spike temperatures and slept for much longer than normal.  He also started to cover his eyes and vomit.  He was not himself, he had no energy.  We went back to our local hospital they took bloods and found markers for infection and so we were transferred back to GOSH.  Over the next few days Georges leg started to tremor. At first this was put down to malnutrition but it soon became clear and to our horror that it was neurological.  The tremors became more pronounced.  They thought he could possibly have a virus on the brain. We had no time to wait for George’s 10/10 BMT match as George needed an immune system as soon as possible.  So a cord was used instead that was an 8/10 match. George was too unwell for chemotherapy conditioning which is the usual procedure prior to transplant. George began to have seizures. Ironically the BMT had engrafted well but the virus was attacking George’s brain.  We then received the most horrific news ever that George was now profoundly brain damaged.  We felt defeated, I felt as though the fight was over, we were absolutely devastated. 

A few weeks later George died as the virus had attacked his brain stem.  He died from encephalitis. The suffering George went through was indescribable, he fitted to death in our arms and to think that this could have all been prevented from early screening and diagnosis makes me feel physically sick and very angry.

SCID babies need to be identified at birth. SCID babies look completely normal unlike other genetic conditions there are no physical signs or markers.  Doctors cannot identify it, this means that there are huge delays in getting these children diagnosed and by the time they are diagnosed they are in no fit state to survive a transplant.  It seems crazy that there are 2 specialist centre in the UK geared up to treat SCID (GOSH & Newcastle) but no diagnostic test is in place to give these babies a chance at life.

The need for a screening programme

I feel sure that George would be alive today had he been identified as having SCID when he was born.  He was so healthy the first few months of life we would have had time for him to receive a 10/10 match and we could have kept him well by keeping him isolated and away from infection.

Losing a child never leaves you

The psychological impact of this tragedy has been immense. Reece was 3 when George died and is still confused by what happened. The whole family have been shocked and emotionally upset, we have literally been to hell and back.  Losing a child never leaves you. I would like to think that this could be prevented from happening to other families in the future.

There are currently two conditions rarer than SCID that are on the heel prick test and SCID is the only condition that is curable if found at birth with a 95 percent survival rate.  It is also more cost effective to screen for it than not to and would cost just £2.50 per child. We need to get this condition onto the screening programme to save lives and prevent suffering to the patients themselves and their families.

If all SCID babies die before the age of 1 without treatment then George didn’t stand a fighting chance having been diagnosed at 7 months.  George battled bravely and smiled throughout his ordeal.

If SCID is put onto the new born screening programme I would feel happy that such a great positive can come out of this awful tragedy.

We were fortunate to go on to have another son a year after George died.  I was able to have screening when I was pregnant to determine if he was well or not.  Luckily Ethan was not affected.

George was one of the fortunate babies to have been able to receive a diagnosis.  How many babies die from pneumonia and other infections when really SCID is the underlying course?

No family should have to endure what we have had to go through. All we ask is that you read our story and help to get this test implemented immediately.

Thank you for reading my story.' 

Posted July 2017