HAPPY NEW YEAR
Woody was born on New Years Eve, pretty much at full term by cesarean section. Within a few short hours, Woody was taken by the doctors and fitted with a little cannula with concerns that Woody was having difficulty breathing and he was treated with suspected sepsis for 48 hours whilst we waited for the blood cultures to come back. Fortunately these came back normal and we were sent home with our teeny tiny bundle of joy around 4 days after he arrived.
Only a couple of months later Woody was on his second round of antibiotics (albeit it oral this time) for another little chest infection. This probably didn't cause too much concern as his older brother Josh was only two at the time and attending nursery and constantly bringing back colds and bugs.
Over the next couple of years Woody often had little chest infections and more antibiotics than we'd ever had to give Josh, and it became clear that Woody was unwell with a cold or chest infection more than he was well. We often would say he's 90% of the time got a cold or a cough. Again, this wasn't anything that was of major concern, as it's quite common for children to pick up bug after bug and maybe Woody was just unlucky in picking up his fair share.
In July 2015 we moved to Plymouth, Devon and it was shortly after that, and more antibiotics, that our local Doctor decided to refer Woody to see the paediatrician in Derriford Hospital. We discussed Woody's past medical history and it was suggested that Woody potentially had Asthma and we should treat him with an inhaler and have six monthly check ups with the paediatricians.
Like a lot of young children Woody also suffered from eczema, and it was pretty bad each time he was unwell. You could often see a flare up of symptoms when he was under the weather, again, nothing too concerning or unusual for his age.
When Woody was about 3 we noticed that he complained a lot about having tummy ache, so during one of our scheduled 6 monthly check ups at Derriford we mentioned this to the doctor. He did his normal observations of Woody, listening to his chest - and then he felt Woody's tummy.
The doctor told us that Woody had an enlarged spleen and referred us to Haematology for bloods and also for an ultrasound of his spleen. His blood works showed a slightly low IgM, but we were told this is nothing to worry about especially as the other bloods all looked ok. The ultrasound showed that the spleen was larger than it was meant to be, but there was nothing noticeably concerning about the structure, so we were to just keep an eye on this at the six monthly appointments.
We were now under Immunology for the low IgM and Haematology for the enlarged spleen, but on the whole Woody was ok apart from the continued chest infections and needing multiple prescriptions of antibiotics. We also noticed that Woody would have night sweats. Often shortly after falling asleep, Woody's pillow would be soaked through and his hair would look like he had just come out of the shower. He still often complained of tummy pain, and he was continuing to have loose stools (this is something that Woody has always had from the beginning). Again at our six monthly check ups we would have a list of 'odd' symptoms that we would add to the list when we would see the doctors. The doctors were never really concerned about any of the symptoms we would talk about and would just put them down to little viruses that he was picking up.
CARRIER FOR CF?
It was during this time that we found out that Dave's sister (who is a GP and who we often discussed Woody's symptoms with) had been told that she was a carrier for CF and thought it was worth telling us in case this was a potential cause for concern. Dave and I were both tested to see if we were carriers and Woody was to have a sweat test to rule out CF. We did find out that Dave was also a carrier but that I wasn't (at least of the normal strains that they search for). Woody's sweat test came back normal and as I was unlikely to be a carrier, CF was ruled out.
Due to the frequency that Woody would require antibiotics (especially over the winter months) our Immunologist decided it would be sensible for Woody to start taking a preventative antibiotic and azithromycin was a safe and effective way to prevent acute chest infections, so Woody started these three days a week between November and February. Woody continued to meet with the doctors every six months for a general check up, check his spleen, weigh and measure him and record any new infections that he had may have had.
Since Woody had been taking the prophylaxis azithromycin he was generally quite well. Apart from having faltering growth you would not have thought that anything was wrong with Woody. He still had an enlarged spleen, and his bloods were still showing slightly low IgM levels, but he was not getting lots of repeat infections anymore. The doctors could not explain the enlarged spleen but one prediction was that Woody's spleen had become enlarged during one of his infections when he was younger and that it was a direct result of that. It kind of made sense when they explained it that way, and that it just hadn't returned to its normal size. It also kind of fell in line with the low IgM too and that maybe that was due to the spleen being big.
Everything was normal unless Woody got sick. And when he did, he'd go downhill so quickly. The pattern was nearly always the same - he'd say 'my tummy hurts' - he'd become quiet - pale - vomit - then he'd be floppy. Each time we would race up to the hospital and in true Woody style, within a few hours and some antibiotics later, he'd be running around again.
LETS ADD A GLOBAL PANDEMIC
This year was pretty unremarkable for illness, we often questioned was it the fact that we were all in a lockdown? or was it because Woody was on the prophylaxis azithromycin, or was he just growing out of this period of being young and having a poor immune system and catching bug after bug after bug?
Apparently in Woody's blood tests, it showed that Woody was getting over a case of EBV (Epstein-Barr Virus) however, we had no idea he had been unwell. The doctors said that Woody is probably so used to feeling unwell that he thinks its normal and that he doesn't complain of symptoms when he is unwell.
Something else to add is Woody's energy levels - he would often complain of being tired on a walk and asked to be carried - but so did his younger brother, its hard to know if it's a normal kid thing to do or a genuine 'symptom' that we should be taking note of.
LEGS NOT WORKING
Early December (2020) we went to London for the day to see Father Christmas, Woody was FINE all day. He was running around, having fun, no fever, no signs of any illness. During the 20 minute drive back to our hotel that night Woody fell asleep (not unusual) and when we arrived at the hotel, Dave got him out of the car and stood him on the ground. Woody's legs buckled underneath him, so Dave just scooped him up assuming he was just really tired and he carried him to the hotel room and we put him in bed. The next morning, Woody crawled to the bathroom, and when we asked why he just said "my legs aren't working properly" this caused small alarm bells - but as Woody was so well in himself we kept a very close eye on him. He walked back to the car but he was limping slightly. During the car journey home, Woody complained again that his legs were hurting - so at this point I decided to make a quick phone-call to the GP, just to be on the safe side. The GP wasn't too concerned and after I also explained we had been ice skating the day before, she immediately was reassured and told us it was probably pulled muscles. The next morning Woody was still walking with a bit of a limp but I sent him into school as he was still showing no other signs of infection.
Once he got home from school that night, Woody still hadn't developed a fever but his toes and fingers looked quite swollen and after another phonecall to the GP, the advise was to get up to A&E just to check him over. Once Woody arrived at A&E his temperature soared and he was still limping. Bloods were taken and Woody was admitted to the ward for further tests. The next morning, in true Woody style, the fever was gone and he was back to his usual self, running around - no limp.
The year started well, we were discharged from Haematology as apart from the spleen still being slightly large - and the bloods still showing the low IgM, Woody was well and stable. He'd been tested for so so many things and everything just kept coming back as normal, so at this stage - there was nothing more to test from a Haematology perspective. We were still under Immunology and in the March (2021) Woody was called in for his usual six monthly bloods - he missed a couple of hours of school, but then he was straight back in after his blood test. That evening I got a phonecall from a Dr on the children's assessment unit telling me that Woody's neutrophil level was 0.3. This meant nothing to me, but he explained that neutrophils are white blood cells that fight infection, and that if the level was under 0.5 you are at serious risk of sepsis or a life threatening infection. Woody must stay at home and if we saw any sign of infection or a fever of 38, then we had to take him straight up to the Childrens assessment ward for IV antibiotics . We were very frightened. The hospital would call every couple of days and ask how Woody was feeling - and we would look at Woody - bouncing on the trampoline - and be like "he's fine?"
Woody had another blood test a week later and his neutrophil was now 0.2 - The following week it was 0.1 - Then 0.1 - then 0.2 - then 0.3 -then 0.2 and so on. During the next 10 weeks Woody was at home and in isolation. Each week Woody would have loads of bloods taken and we were being told they were trying to get to the bottom of why Woody had suddenly developed Neutropenia. These bloods were being sent to both Bristol Children's hospital and Great Ormond Street. When the Dr first said if Woody gets a fever of 38 or any sign of infection, Dave and I just thought we would be up at the hospital every day, but somehow Woody remained well and there was no sign of infection. As Woody was still on the winter cycle of his preventative antibiotics the decision was made to continue these, three times a week indefinitely.
The downside to him being absolutely fine was it was hard for anyone to understand what we were going through. Because we had all been living in a fairly unusual way for the past year due to Covid - everyone thought we were just being cautious because of covid. Dave would often say to me - if this had happened before Covid and we had told people that we have to keep Woody in strict isolation, they would have been shocked at the fragility of our situation. However Covid had normalised isolation and therefore in turn normalised what we were going though as a family - AND IT WASN'T NORMAL AT ALL
During the 10 weeks of blood tests one result that came back showed that the neutropenia was autoimmune. This made the doctors relax a bit and allowed us to let Woody go back to school because in theory his body was still able to produce neutrophils when exposed to an infection - even if his own immune system was killing them off again.
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (ALPS)
Woody was being tested for something called ALPS, and the doctors were pretty confident that this was the missing puzzle piece in Woody's diagnosis. As much as you shouldn't the first thing we do is google anything that we have been told to try and work out what is going on for our own mental health. Upon reading lots and lots ourselves it did seem like ALPS was a plausible diagnosis. It certainly fit some of his symptoms. We were told that we would hear once they had more results and we went back to school and normal-ish life. We still had a very strict plan in place for Woody and we had to still look for signs of infection as he was still neutropenic.
DEFICIENCY OF ADENOSINE DEAMINASE 2
One afternoon in September (2021) I got a phone call from our Immunologist who said the results they had been waiting on were back and would it be possible for Dave and I to go into the hospital to have a chat about the results. She also told me to allow three hours for the appointment as she predicted Dave and I would have questions about the treatment options. Obviously concerned about the length of the appointment, but still thinking we were going to be told Woody had ALPS, we went along thinking we would have a say in the multiple options of treatment they had briefly discussed with us in our last appointment to do with ALPS.
Once we got into the room, it was pretty clear we were about to be given some bad news.
We were told that Woody had an extremely rare condition called DADA2. We were told that Woody urgently needed to start taking a drug called Enbrel that he would receive as a weekly injection to stop him from having a stroke, but he couldn't start it until we were given approval. DADA2 is such a new condition, that there is currently no NICE guideline for drugs, however this one was the one he needed. The hospital had to apply on an individual basis to NHS England to get funding for it and this could take weeks to get approved. They told us that DADA2 causes vasculitis and bone marrow failure. I couldn't believe the information that we were being given, and it was like someone was speaking a foreign language. All we could hear was. STROKE - URGENTLY NEEDS A DRUG WE DONT HAVE FUNDING OR APPROVAL FOR - BONE MARROW FAILURE. When someone tells you that your child is walking around and could possibly have a stroke due to a condition he has, and they know what drug to give him, but they also can't give it yet is a horrible feeling. You are just desperate for them to give him it. They also told us that there was currently no cure for DADA2 however some patients had had a Bone Marrow Transplant. DADA2 is a recessive genetic disease and therefore both Dave and I must be carriers and that at some point our other children would need to be tested to see if they also have it. We were told to go home and google it. Our Dr's had never seen a case before so there was limited information they could give us. They did tell us about the DADA2 foundation and of a Facebook DADA2 families group to go to for more info.
The following week our Dr's decided that they didn't want to wait for the approval for funding from NHS England, and that the hospital trust would pay for the treatment in the meantime, so Woody started his injections the week later. We had been so desperate to get the approval once we knew there was a high risk of stroke in a DADA2 patient, but on the other hand - none of it made any sense. Woody was so well. He hadn't had any infections for a really long time, and even with the severe neutropenia he had still been fine. One part of your brain is panicking that your little boy might have a stoke - so give him the medication, and the other side of your brain is shouting - are you sure you've got the right person? HE IS FINE?
Over the next four weeks Dave and I were taught how to make up the Enbrel injection and how to inject it. It goes against all your natural instincts to inject a pretty strong drug into your child who appears so well.
Dave and I keep saying - We obviously would NEVER wish Woody to be unwell, but if there had been any signs of a poorly child, it would be so much easier to wrap our heads around.
Woody has been on Enbrel since September 2021 and is tolerating it well. He is a fucking superstar. He has also continued on the prophylaxis azithromycin three times a week. He has been severely neutropenic somewhere between 0.0-0.4 for the past year. He also now takes Itraconazole 200mg daily.