James's life story

James's story is told by his mum Susie.

'I would like to share our story with you about our baby son James, who we tragically lost in February 2017 as he had Severe Combined Immunodeficiency (SCID).

James was born a healthy baby on the 23rd February 2016, weighing in at 8lb 8oz. James was two weeks overdue and so I had to be induced to have him. Now I know why our poor little boy didn’t want to come out sooner.

Myself and James’s dad, Justin, were so relieved when James arrived safe and well. We both have 2 boys each from a previous relationship and James just completed our family. Everything was fine until James developed a bit of a cold at 5 weeks old. I took him to our GP who checked him over and said it was just a cold and indeed he did improve over the next few days, although his weight was starting to drop off a bit and I was recommended by my Health Visitor to change his milk formula to see if that helped.

At 8 weeks old James had his 8 week check-up with the GP and then saw the nurse for his first lot of immunisations. As soon as I got James home he started coughing. I remember thinking it was strange and thought it must be a reaction to the immunisations. The cough got worse and I was so concerned that I rang the out of hours 111 service on the Saturday for advice. As James was so little they advised me to take him to see the out of hour’s doctor at our local hospital, which we did and the doctor said he had a temperature and cough probably as a result of the immunisations and to just give him some Calpol.

Getting a diagnosis

However James didn’t get any better over the following days and so I took him back to our GP. The GP didn’t like the sound of James’s cough and agreed that his weight was still dropping off and sent us to the Jenny Lind Children’s Department at our Local Norfolk and Norwich Hospital. James was kept in for 6 days as he required oxygen and IV antibiotics as they said he had pneumonia. We were discharged home but James just didn’t improve. I took him back to my GP 3 times within the next two weeks as I was concerned that he wasn’t showing any signs of improvement and in fact was getting worse. My GP prescribed oral antibiotics and said it would take a while for him to get over a serious chest infection. But when I took him to the GP for the third time I was extremely concerned as James wouldn’t even feed and he looked terrible. My GP said he had thrush in his mouth probably from all the antibiotics and as I expressed concern that he was breathing very fast.  She sent us back to the Jenny Lind Children’s Department.

When we arrived at the Hospital the doctor came round and said they were really busy but that James looked ok and they would put him on a monitor and get to him as soon as they could. The nurse put him on a monitor and was shocked to see that his sats were at 47%. All of a sudden doctors and nurse came running into the room and it turned out that James was having some sort of vacant seizure and he almost stopped breathing. Doctors were concerned he may have meningitis so they performed a lumbar puncture which came back ok. James was admitted onto the High Dependency Unit and underwent a range of tests, including loads of blood tests, 3 lumbar punctures, an EEG, MRI scan of his brain and CFS monitoring and the doctors were telling us that James was still suffering from Pneumonia and that now he has epilepsy.  We were devastated that James had epilepsy and I wondered how we would ever cope at home if he kept having seizures. Little did I know then about the nightmare that was about too unfold.

James deteriorated every day he was in hospital over the next two weeks and despite myself and Justin expressing our frustration and concern with the doctors there, they were adamant that James just had a chest infection and epilepsy. After being in there for two weeks James was in an awful way. He required increasing amounts of oxygen, couldn’t tolerate feed even through his NG tube so was just on fluids and he just laid there completely lifeless. It was only when James eventually had an echocardiogram which was very abnormal that the doctors said they didn’t know what was going on and that James needed to be ventilated and transferred to Addenbrooks or Great Ormond Street Intensive Care Unit. Addenbrooks were the only one to have a bed on PICU and so James was transferred by the CATS team that day.

The doctors repeated all of the tests that James had had done in Norwich and carried out further tests that were recommended by GOSH. After 4 days at Addenbrooks the doctors told us that they thought James had SCID and he would need to be transferred to GOSH for urgent specialist care. James was then moved again by the CATS team to GOSH on the 3rd June 2016.

The doctors at GOSH were amazing but were extremely concerned about how poorly James was and told us that he may not survive as his body was being destroyed by the cytomegalovirus (CMV) virus. James had to be put on an oscillator ventilator as he was struggling on the conventional ventilator and this was a massive step backwards. We also found out from the Ophthalmologist at GOSH that James had CMV retinitis which had been present for at least 10 days earlier and that it had caused so much damage to his eyes that he would be blind. This was yet another blow and we were distraught at the thought that this had been missed at our local hospital.

James was on a ventilator for three weeks but with intensive treatment did eventually come off the ventilator and after a short time on CPAP was able to breathe all by himself. He was extremely weak and couldn’t move but we were so relieved to finally be able to hold him. He had lost so much weight that he had dropped right off the centile chart. The doctors from Immunology were brilliant and they told us that they felt James’ only chance was to have a stem cell transplant, but that he was too weak to have a full bone marrow transplant with Chemotherapy so they would use cells from Justin who was only a half match, but with regular immunoglobulins this would be his best chance. Justin donated his T-cells to James on the 4th July 2016. We were told it could take up to six months for the cells to engraft and James would be tested regularly to check for engraftment.

James perked up a lot while on the ward in GOSH. He even managed to feed through a bottle, only requiring his medication down his nasogastric tube (NG tube). He gained a little strength in his arms with regular physiotherapy and started to gain a little weight.

We were transferred back to our local hospital on the 21st July 2016 to try and establish a relationship with the doctors there as they would be the first point of call if James got poorly. We were not happy about this as we feel they let James down immensely and as a result he got so poorly with lasting consequences.  After only being at the Norfolk and Norwich Hospital for two days James got very sick and again couldn’t tolerate any feed. His eyes then started to go yellow and after much pushing and complaining at the lack of care yet again from the doctors there, James was transferred back to GOSH by ambulance for review by the immunology team. They discovered that James had gallstones and a stone was blocking his bile duct. He was going to be considered for surgery at Kings Hospital London, but thankfully the stone dislodged and James returned to a normal colour and managed to start feeding again.

After ten days we were able to be discharged home as we refused to go back to our local hospital. However, my twins at home had got chickenpox so we were unable to expose James to them. So we did a house swap with Justin’s parents who stayed with my twins and we then stayed at their house with James while the twins got over the chicken pox. A week later we were finally able to move back home and be a family again, albeit a very different family. Because James still had no immune system he couldn’t be exposed to anyone who was poorly, even with a simple cold, and we had to limit the number of people he could be around and had to be very strict with hand washing and cleanliness.

After a couple of weeks at home where James seemed to be doing well, he started to have seizures again. They were different to the last ones and after another hospital admission GOSH diagnosed him with infantile spasms as a result of all the scaring on his brain which the CMV virus caused. They gave us yet more devastating news that infantile spasms were very difficult to control and meant that James would be severely disabled if he even survived.

Going home with yet more bad news was horrendous and so hard to comprehend. However we weren’t prepared to give up and with a change of medication the seizures stopped and with regular physiotherapy and lots of hard work James proved he was a fighter once again and gained some head control and even managed to play with his toys on his play mat. He started smiling which was amazing and I actually thought we were going to win this fight. We had regular clinic visits to GOSH where they checked for engraftment, but unfortunately it seemed that the transplant hadn’t worked as there was no sign of any T-cells. In November we started talking about arranging for James to have a full BMT with chemo in the New Year, six months post last transplant as he had made such good improvement.

But unfortunately just before Christmas James started having seizures again and they were constant and very damaging to James. Christmas was stressful and sad and it was so hard watching James constantly have seizures. The way he would cry out and the fear in his little eyes was horrendous. After another admission to GOSH in January where James had lots more tests, the doctors told us that the CMV virus had once again taken over James’s body and that because of the infantile spasms he would be so severely disabled that they would not be able to do a BMT for James as he just wouldn’t survive it.

After long and distressing discussions with the doctors, we had to agree to take James home with palliative care. We were lucky to have the help of the East Anglia’s Children’s Hospice at Quidenham and the nurses were lovely, helping me to keep James as comfortable as possible at home. James died three weeks later in my arms on the 18th February 2017, five days before his first birthday.

Our famly is broken

We are absolutely heartbroken. I can’t believe we have lost James when we just thought he had a chest infection. His brothers have been hugely affected by the amount of time we have been so far away from home in hospital and now to have lost James after all he went through. Our family is broken.

The need for SCID screening

We have since learnt that SCID can be tested for as part of the newborn screening programme and that it is currently being done in many states across the USA and in other countries too. To learn that the UK does not include SCID as part of the new-born screening programme is incomprehensible and frankly disgusting. And after finding out that this test would only cost £2.50, I am horrified that we have lost our son for such a tiny cost of a simple test. SCID is a life threatening condition and there is a test which can diagnose it at birth and if diagnosed early and treated, has a 95% survival rate.

In fact I understand that if SCID was included in the new-born screening programme that it would be the only condition which could be diagnosed by the heel prick test that can be cured.

I am horrified that my baby’s life wasn’t even worth £2.50 to this country. I wonder how many tests could have been carried out on babies across the UK for the cost of all of James’ treatment when he was so poorly. It seems ironic that it cost us more to park our car at our local hospital when we went to have James then it does to perform a life-saving test.

This test should have been available for our James. He should still be here with me. But he’s not and I have to try and live with that every day. I sincerely hope that the screening committee takes some responsibility and finally does what they should have done years ago and include SCID in the newborn screening programme. With all the unrest and horrible diseases in the world which can’t be cured and take so many lives, we have the opportunity to save the lives of innocent babies; why would you not take it. James certainly wishes we did much earlier.

The image of my baby’s still cold body will haunt me forever. Putting his precious little body into a casket on the day of his funeral, knowing I will never see him again. I can’t even begin to describe how that feels. I hope no other baby is made to suffer the way that James did.

We cannot let this carry on. Losing James has broken my heart and ruined mine and my family’s lives. Please help us stop this happening again.'

Posted July 2017