Our son Joshua was born in June 2017, he was our third child and born weighing a very healthy 9lb 8oz!
Joshua came home from hospital, and other than a tongue tie which needed snipping at home, he had a very normal first year of life. He was exclusively breastfed for for the first year, and had all his routine vaccinations. From around 10 months old Joshua began to develop the odd chest and ear infection but as it was winter, we didn’t think much more of it. At 13 months old I had stopped feeding Joshua and he had his MMR vaccination (July 2018) at our local GP surgery. Within days Joshua developed a fever and rash. He was lethargic and clingy and just not his usual self.
Initially, we felt it was just a virus but when he began to wake from his naps burning hot and blue around the mouth, we were really panicked and felt the need to call out an ambulance at least 3 times. We had several admissions to our local children’s ward, one which even lasted 2 weeks but despite being tested for every virus going, Joshua never got a diagnosis of any kind. Throughout, he had a distended tummy and local doctors began to think he had a gut condition such as colitis or coeliac disease. We trialled dairy/gluten free diets, etc with little bits of success here and there. We asked for a referral to Evelina Children’s Hospital and were told it would take about 12 weeks for an appointment. By this stage, I just knew there was something seriously wrong with Josh, but nobody seemed to believe me. I tried everything to get him help, I visited the GP weekly, the baby clinic, we paid a private consultant to review him and I even asked to be referred to social services knowing that if they thought I was neglecting him, at least they’d have to have him properly reviewed and checked over. In November, Joshua still hadn’t fully recovered from this ongoing virus when his sisters brought home norovirus from school. We all had the bug but all recovered quickly. Joshua just couldn’t recover and for 3 weeks had horrendous diarrhoea. It was so bad we would put 2 nappies on him at night and still have to throw away his bedding most nights. One Saturday morning we couldn’t wake Josh up from his sleep, he would open his eyes and moan but couldn’t stay awake. We called 111 and took him in to see the on call doctor. The doctor there told us to take him home and wait for the Evelina referral as there was nothing more they could do for him at the local hospital. We asked for a second opinion and begrudgingly we were seen on the children’s ward. Luckily, we were greeted by a nurse who immediately saw the fear in my eyes as I carried Joshua’s lifeless body into the ward. She took us into a side room and returned with 3 doctors and they set to work putting lines in, taking bloods and setting up fluid.
Joshua was extremely dehydrated from the chronic diarrhoea and had been asleep at that point for over 18 hours. Not bad for a child who had never slept through the night before then. Joshua was admitted onto the ward again and this time, we were taken seriously. Joshua was 18 months old now but over the period of 3 weeks he had lost 2kg in weight. Lots of tests revealed Josh was losing a protein through his stools and we were told he needed to be seen at Evelina urgently. We would be transferred as soon as a bed became available. We waited 6 days. Every day Josh got more sick, more lethargic, he lost the ability to bare weight on his legs and could no longer hold his own head up. He still had chronic diarrhoea and occasional vomiting. We attempted feeding via nasogastric (NG) tube but he struggled to tolerate the formula he was given. Eventually, Josh was transferred to Evelina hospital.
It was terrifying. We arrived late at night on a Sunday and first thing on the Monday morning, before my husband had arrived, a Doctor came to see me and told me Joshua was very sick indeed. He told me he had Protein Losing enteropathy and that he most likely had a gut condition called intestinal lymphangiectasia and he couldn’t say honestly at that stage whether he would survive. We were told to expect him to be in hospital for a long time, that he would need a line inserted into his arm for vascular access and biopsies and samples taken from his gut. We were extremely fortunate that Joshua recovered very fast, he tolerated his specialist milk feed and slowly began to regain his strength. Just before Christmas, he was allowed home. A couple of weeks later, Josh became very clingy and tearful again. At this stage, he was recognised as being seriously ill and so we had open access to our local children’s ward. I took him in for a check up and to our surprise, Josh tested positive for influenza A and we we were told Josh needed a blood transfusion.
We were told this does happen sometimes with the flu, but Joshua’s gastro doctor was concerned he could be bleeding from the gut internally, so he underwent a series of other gastro scans and tests, but all appeared normal.
Three weeks later, again Josh became pale and clingy and again required a blood transfusion. We were transferred back to Evelina at this stage, and began lots more tests. After about a week, we were suddenly moved from the open ward to a private room and told they suspected Josh had an immunology problem. Josh has another PICC line inserted and had his third blood transfusion, before we were told we needed to be transferred to Great Ormond Street Hospital, because Evelina couldn’t manage his suspected condition. We still didn’t know what the condition was, and we weren’t particularly concerned because we had no idea about any of the conditions they were considering. That all changed when we were transferred. Once again, we were moved late at night and as we were wheeled into Robin ward, we were pushed past the windows of isolated rooms where bald children lay in their beds attached to pumps and monitors, their worried parents beside them. I remember saying to the ambulance crew, “I think we’re in the wrong place,” but their sympathetic smile said otherwise.
From this stage everything changed for Joshua. We were told he wasn’t allowed to eat certain foods, drink water that hadn’t been sterilised or leave his isolated room. A doctor came to see us and told us they thought he had a primary immune deficiency, the worst case scenario would be severe combine immune deficiency (SCID), but this was unlikely, as he had survived to one without diagnosis. As Josh was now on lots of prophylactic medication and IVIg, he was very well. He was climbing the walls with boredom and after 3 weeks at GOSH, we convinced them to let us take Josh home, whilst we waited for his formal diagnosis from the TiGER panel. In May 2019, we received Joshua’s formal diagnosis of RAG1 SCID – the worse case scenario. He was born without a functioning immune system, and only the fact that I had breast fed him and sheer luck, had kept him alive for his first year of life. SCID is a rare genetic disease effecting approximately 1 in 58,000 babies. We were told he would need a bone marrow transplant and that would be his only chance of survival. Without one, he would eventually catch an infection his body couldn’t cope with and die. We were extremely fortunate to also be told that our youngest daughter was a full match and we wouldn’t need to search the register for an unrelated donor. GOSH were keen to push ahead with transplant ASAP, to minimise the risk of Josh getting any other infections. So in the following 6 weeks, he had his Hickman line and gastrostomy inserted, cryopreservation of his testes completed in case he was left infertile from the chemo, and lots of tests on all his organs, to make sure he was as well as possible before transplant. On 10th July 2019, Josh was admitted to Fox ward at GOSH, and the next day began his 7 day cycle of chemotherapy.
He was also due to have ATG (anti-thymocyte globulin) but the first dose of that caused Josh to develop leaky capillary syndrome and resulted in a 24 hour stay in paediatric intensive care, so he couldn’t continue with that.
None the less, the transplant pushed ahead and on 19th July. My daughter, Eva, underwent surgery to remove bone marrow from her hip bones which would save Joshua’s life.
Later that day, after Eva’s cells had been prepared, they were transfused into Joshua via his Hickman line. His transplant was complete and all we could do now was watch and wait.
Joshua suffered some horrendous side effects from the chemo,
and it took longer than expected for Eva’s cells to start working, but after 6 long weeks, Joshua was allowed to come home!! He rang the bell and came home!
We honestly felt at that point that we had done the hard part and whatever was thrown at us now, we could manage together at home. Joshua did really well initially. He celebrated his 100 day post transplant with a little party.
Around Christmas 2019, he had some further gut issues, which was attributed to gut graft versus host disease (GvHD) but after a course of intensive Intravenous (IV) steroids and steroids at home, he responded well again. At one year post transplant, in July 2020, Joshua began to wean off his immune suppressant medication, as was planned, but unfortunately at that stage, we began to notice that Joshua had a persistent cough, wheeze and breathlessness on exertion. We mentioned it to the doctors and Joshua was taken in for lung tests. The result of these showed that Josh had developed chronic lung Graft versus host disease (GvHD). At that stage, Josh started the initial course of treatment but it sadly failed. Joshy’s symptoms returned when they again tried to wean the immune suppression. Josh was recently trialled on another drug, hoping that could be the one that would allow us to remove the steroid from his daily medications, because of the damaging effects that has long term. Unfortunately, Joshua reacted terribly to that drug, and we were not able to continue using it. Last week, Joshua underwent his 11th surgery at GOSH.
He had a bronchoscopy to sample secretions from his lungs to test for infection and at this stage we don’t currently know what the plan for Joshua’s ongoing treatment is. He still suffers the effects of the lung GvHD with approximately only 50-60% lung function. At almost 19 months post transplant, Josh still depends on about 14 different medications daily, as well as tolerating sub-cutaneous injections of immunoglobulin in each thigh every 2 weeks. Despite all of this, these horrendous symptoms he suffers daily, the trauma of what he has been through, he is the happiest little boy. He is a shining light of absolute joy in our lives and we all absolutely adore him. He has taught us what it is to be brave, the true meaning of strength and courage and we would not change him for the world.
Written by Kayleigh (mum)
You can follow Joshua’s story here.
