Stella's Story - Christchurch Scid Baby diagnosed by new born testing, as told by Tanya her Mum .
Towards the end of 2017 Justin and I decided we wanted to start a family so we went to our GP to ask about any tests that were a good idea to have before trying to conceive, all results came back normal so we decided it was the right time for us to try to get pregnant.
About the same time, unbeknown to us the process was almost complete to have screening for Severe Combined Immune Deficiency (SCID) added to the Newborn Metabolic Screening Programme. On Christmas morning 2017 we found out we were pregnant with our first child, by this time New Zealand was officially screening for SCID in newborns. SCID is a genetically inherited primary immune deficiency which results in no T cells or B cells (lymphocytes) and is treated with a stem cell transplant. It’s a condition I had never heard of and could never have imagined it would have such an impact on our lives.
Nine months went by with a medically unremarkable pregnancy. We enjoyed our time while I was pregnant, Justin had recently finished building a Hot Rod so we spent the summer taking it to car shows around the country, where we camped and caught up with friends. We even attended an off-road vintage car rally in the Otago region in July despite being heavily pregnant. Every test and scan came back perfect throughout the pregnancy. We spent so much time discussing what the next year would be like. For me I felt like it was an opportunity to really put down some roots in Christchurch, having only moved from Wellington a year earlier. We had made great friends at our antenatal group and I imagined coffee dates and mums and bubs fitness classes, joining the local Playcentre and meeting work colleagues for lunch to show off our baby.
The day arrived, I had a typical, uneventful labour and delivery. Suddenly, we had a beautiful baby girl. We named her Stella and fell in love instantly. Her Apgar Scores were nine and then 10, she latched within minutes and was the picture of health. We were moved from the delivery room at Christchurch Women’s Hospital onto a ward and into a shared room, the family next door had about five people crammed behind their curtain and I remember a couple of them coughing. I didn’t want to stay there knowing Justin would have to leave soon and I just wanted to be alone as a family. Luckily our midwife managed to get us a room at St George’s Hospital, where we had our own space and were looked after so well, Stella and I didn’t leave that room for the next three days. Looking back, we were unbelievably lucky we were moved somewhere more isolated.
The next few days flew by in our little newborn bubble, Justin and I worked well as a team and Stella was just perfect, she fed so well and did everything she was supposed to do.
I remember them doing the heel prick test, a midwife came in and explained it, gave us a pamphlet and asked our permission. We said yes of course, I remembered it had been discussed at our antenatal class, so I had an idea of what it was about. Stella fed through it and wasn’t fazed at all (a habit we would soon become very familiar with - she now dances through blood tests). I remember thinking that would be the last we ever hear of it. The pamphlet said the occurrence rates were so low, of course it won’t be us, it won’t be our baby that has one of these rare conditions.
We left St George’s confident as parents, excited to get on with our new life and work things out at home. I remember Justin and I saying I can’t believe we get to take her home, and that she’s actually ours. In the first week of Stella’s life we stayed at home, adjusted, got used to breastfeeding, and were only visited by Stella’s Grandparents, Aunts and Uncles. We didn’t leave the house until Stella was seven days old. It was Father’s Day so we decided to pop out to get Justin a treat, we went to a small food court, which feels so unbelievable now. I remember people peeking in at tiny Stella, that was the only time I ever experienced strangers admiring and oohing and ahhing over our baby.
When Stella was eight days old the midwife showed up, initially it seemed like every other visit. But then she said that on the way to our house, she had a phone call from a specialist at Starship. She explained that one of the heel prick tests came back abnormal, she said they can’t confirm anything until they do further testing, but went on to reassure us that she’d been midwifing for decades and had only had one other abnormal result and further testing proved it to be negative. She told us that sick babies don’t gain weight and Stella had regained her birth weight back so quickly, she was sure Stella would be fine and told us not to worry. She didn’t know anything about the condition and said it was quite a new test, I’m not even sure she knew what it was called. I instantly got tears in my eyes as soon as she started to tell us. I felt like I knew in my gut it was real. It’s hard to differentiate the feelings between the day we found out something may be wrong and when we had a confirmed diagnosis. I felt numb and robbed and in disbelief, angry and just so deeply sad, everything just got a little muted. It was also unbelievably conflicting, here we have this incredible tiny human who’s happy and so unaware. She seemed so healthy and you just want to be happy and enjoy her, but then you’re trying to deal with this horrendous news that she is in fact critically unwell – a simple cold away from death. This was the beginning of living in two states, one where you enjoy every moment with your child revel in watching them grow, treasure the cuddles and love felt but also on the other hand, are scared to the pit of your soul of losing them, fearing for what’s ahead, and dealing with the realities of what was needed to keep them alive.
At 10 days old, at about 7pm we got a phone call from the specialist at Starship with a confirmed diagnosis of SCID and that Stella would need a bone marrow transplant. I was told to stop breastfeeding immediately - Justin had to run down to the supermarket and buy formula. Luckily, we had purchased ‘just in case’ bottles and a steriliser. We were emailed a leaflet about the basics of SCID. I didn’t dare google the condition and to this day still haven’t, going off friends and family’s reactions I will always be grateful that I had the restraint not to.
Stella is the first baby to have been diagnosed with SCID through newborn screening (and to my knowledge, is still the only one). At the beginning it felt a bit like we were guinea pigs. Our first blood test was done in the lab at the hospital, we had to wait in the waiting room with the public and despite doing our best to keep Stella covered felt very exposed to germs. Hopefully our feedback on the process around the time of diagnosis has been taken on board and the days immediately after diagnosis will be smoother for the next baby born with SCID.
Next was our first trip to the hospital for Stella to get checked over and have more tests. I actually asked the first nurse we met to step back from Stella’s face and explained why, she ended up being one of our main nurses and our doctor actually commended me for speaking up. I guess that was the first step in my fierce advocacy for Stella.
There were so many blood tests in those first couple of weeks, for Stella, Justin and myself. Stella was put on antibiotics and anti fungal medication as a precaution. She took these really well orally so that wasn’t too much of a drama. At home we created systems to do our best to keep germs out. Hands were washed anytime anybody came in the house and again washed or sterilised each time prior to handling Stella. Phones went into a plastic tray and were cleaned with antibacterial wipes before being used inside. Anything that went near Stella was sterilised, she only ever lay on clean blankets - never on the floor, water was boiled, everything was stored in sterilised airtight containers and so on. The house was disinfected regularly and only about five people ever came in, all of whom had to be fully vaccinated and healthy. Friends and family would come around and look through the window to see Stella. Our home was our bubble and the safest place we could make it for Stella.
At four weeks old Stella needed to begin Immunoglobulin injections, we decided we would rather do these weekly at home instead of infuse monthly at the hospital. Justin volunteered to administer the injections (or perhaps I volunteered him). Justin learnt quickly and was commended by the nurses on how quickly he picked it up and how brave he was for getting so far on his first one. I can’t begin how to imagine how scary and surreal it must feel to have to stab your very tiny baby with a needle. I have always held Stella through each injection but can’t even look at the needle myself. It’s amazing how quickly the weekly injections became part of normal life. Our beautiful nursery had all the normal baby stuff plus a bright yellow sharps bin. Life all became pretty normal, medicines, injections, hospital visits and isolation aside. We loved watching Stella grow, she was such a happy, beautiful bubba who brought us so much joy in those early months. I remember people saying to Justin “well this isn’t what you signed up for when you wanted to have a baby”, and Justin would say “well actually it’s exactly what we signed up for”, this is parenting, this is meeting the needs of our child, we wanted to have a baby and went into it believing that you take on whatever that comes with.
We finally got a date for a bone marrow transplant. Our amazing transplant team had found a well matched young male donor in Germany. We were so lucky they had 16,000 matches to chose from. We began preparing to travel to Starship in Auckland for an unknown amount of time. I found myself obsessing over packing and ensuring we had everything necessary to make life easier waiting for us in Auckland. I think I felt like there was so much out of my control, so I tried to pedantically control the small things that I was able to, like packing.
Unfortunately, the week before we were due to travel to Starship we were told Stella had tested positive for CMV, this was the reason I had to give up breastfeeding and certainly one of the things we were trying to prevent with isolation. Stella was admitted into CHOC at Christchurch Hospital and began aggressive antiviral treatment. This was our first hospital admission so was a bit of an adjustment and taste of what was to come. Stella was a champ and handled everything so well. After about five days, we received a result confirming it was a false positive. Essentially it was unnecessary treatment but I am grateful they were so quick to treat it, just to be safe.
The time came to travel to Starship for transplant. We were flown up on the Flying Doctor’s Service and transported from the airport to the hospital by ambulance. Stella’s first flight was essentially a private jet, with just the pilots, an ICU nurse and the three of us on board. We were received onto the ward by a lovely nurse, who gave us a tour and made us feel at home. Stella’s room was the biggest on the ward and had a great view over Auckland, which was so good for our mental health and was a great view for the New Year’s Eve fireworks. We were also given a room at Ronald McDonald House where Justin spent most nights and we occasionally swapped so I could take a break from the hospital and realities of sleeping in a room with pumps beeping and nurses in throughout the night. We were welcomed with a beautiful gift for Stella from IDFNZ and were supported by them throughout our time at Starship with parking and cafeteria vouchers and other helpful things. The day after we arrived at Starship we were thrust into the reality of what was ahead. Stella went in for surgery first thing and received a double lumen Hickman central line. Handing Stella over to the medical team in the operating theatre and walking away was one of the hardest things I had ever done. The operation went well and the sense of relief I felt when I had her back in my arms is something I will never forget.
The next step in preparation for transplant was a week of chemo, where Stella received three different chemotherapies to wipe out all of her own stem cells. This was a really rough time for us all. It was the first time Stella was actually unwell. She began a cocktail of meds, some which made her sick and others were to try make her feel better or manage pain. I guess we went into survival mode a little at this time. Thinking back all I can really remember is frequently being covered in mucusy vomit, holding Stella and crying my eyes out, seeing how distressed or ‘out of it’ she was and saying “Mummy’s here, Mummy’s got you” about a hundred times a day.
A symptom of the type of SCID Stella has (Artemis) is mouth ulcers, we discovered the first one a couple of days before heading to Starship and they became much more severe over our time there. A particularly bad bout of them coincided with chemo and we ended up inserting an NG as her milk intake was dropping and we needed her to be as strong as possible to get through the transplant. The nausea and vomiting from chemo finished, then mucositis kicked in, then when that passed, she got about eight ulcers at once. It felt as though every time she got well enough to increase her milk volumes, something else came up. This resulted in an oral aversion, and Stella totally refusing to drink any milk.
Everything went as planned with the conditioning for transplant and transplant day arrived. It felt momentous, even if the transplant itself is just a tiny pink bag run into her central line, just like any of the other blood product infusions Stella was given. We took photos and couldn’t believe that tiny bag was going to save our daughter’s life. Stella slept through the infusion. I thought about what it meant for us, the chance to watch our baby grow up and how grateful I was for this stranger on the other side of the world who selflessly donated so our baby could live.
About a week went by, we weren’t expecting any news as the transplant would take time before producing enough cells to be detected. But I guess we weren’t expecting anything bad to happen either, I think because we had made it to transplant without Stella getting an infection that she would be ok. However, Stella developed a serious infection from her central line. At this stage she was both neutropenic and had no lymphocytes, so was extremely vulnerable. The infection was attacked aggressively with antibiotics and Stella was closely monitored by the doctors and Patient at Risk nurses around the clock. She had a high fever and was not very ‘with it’. This was truly the scariest time of my life. We thought we were going to lose her. I didn’t leave her room the entire time she battled the infection. Between, Justin my Mum and I we held her every single hour, I was too scared to sleep in case she deteriorated further. Thankfully Stella is a battler and pulled through. We became more vigilant than ever on things like hygiene around line cares and I can’t imagine we were the easiest parents to deal with from the nurses perspective. We probably annoyed a few nurses but at the same time became friends with many too. I still think of the wonderful people we met during our time on the ward, the hours spent getting to know the doctors and nurses, we were lucky to have such passionate and fun people to keep us company.
The rest of our time at Starship was unremarkable while being truly remarkable at the same time. We basically sat in the room and waited. Justin and I got into a good routine of going for walks or to the gym each day. Some incredible friends were cooking meals and bringing them in each week (being coeliac made eating on the ward challenging for me). Washing still had to be done so we would pop down to Ronald McDonald house. My Mum visited frequently so Justin and I would get the odd time away from the ward together. Stella’s Grandparents, Aunt and Uncle visited. Christmas and New Year passed (with lots of presents and delicious food). Luckily, we were supported throughout our whole time by a psychologist, who kept us sane and helped us through the hard times. Sitting in a room with your significant other for months on end is a true test of relationship durability. Stella grew and played and developed her love of books, she became cheeky and loved everybody she met. The nurses enjoyed making her smile and she couldn’t get enough of it. All the while remarkably growing a brand new immune system.
Stella started growing lymphocytes for the first time ever, and her counts were starting to show on blood tests. We knew when she reached a magic number we could all move down to an apartment at Ronald McDonald House and by that point we were so looking forward to having all three of us under one roof. That day came sooner than expected, and we were able to take Stella to our new home at Ronald McDonald House. A new environment was great for Stella and being able to finish a conversation without somebody coming into the room gave us a new lease too. We went on lots of walks around the domain and enjoyed being outside as a family.
It was reassuring having the hospital so close and having Stella checked at clinic regularly.
We were incredibly lucky to have so much support from our friends and our community, my sister in law set up a GiveaLittle page early on in our journey and that along with a fundraising auction at the local car show enabled Justin to stay with us throughout our time in Auckland. Being together as a family made the hard days easier and the daily tasks achievable. I don’t think I would have gotten through that time without Justin and our family’s unwavering support. I struggle to express how much the kindness of others has meant to us, every little gift, message or donation to our cause filled my heart with love and happiness.
Stella’s numbers reached the next milestone and our team at Starship signed off on us heading back home to Christchurch. We drove down and spent a night at a hotel in Taupo then at my Mum’s in Wellington. Bluebridge Ferry were amazing and facilitated our crossing by loading us on before, and off after everybody and thoroughly cleaning a cabin for us. We enjoyed our first family road trip, as stressful as it was with a car sick baby and an NG to keep in. It was so brilliant and emotional to walk in our front door. We couldn’t believe we got to bring Stella home again. I’m pretty sure that Justin thought that day would never come. We jumped into home life, with so many firsts just in the first day, we were filled with joy. A day or so after being home Stella was admitted to CHOC, which we had been told may happen so wasn’t a total shock. Being in hospital is easier when home and family are close.
We found our new normal at home, living in our bubble again, tube feeds, medicines around the clock, immunoglobulin injections, Hickman line dressing changes and weekly blood tests. We avoided the hospital when we could and had a community nurse come to our home. We had a pretty low threshold for taking Stella in to get checked but thankfully she stayed well. Her counts kept going up and five months after it went in, the Hickman line was surgically removed. Stella has a tiny scar on her neck and on her chest from this. It may be the only physical marks to show what she’s been through.
Somewhere in all this craziness we decided the place we were in was too small given the amount of time we would be spending at home, so we bought a new home and moved into a place that’s perfect for Stella to grow up in. Our bubble got bigger just in time for winter and for Stella to start crawling. Our trips to the hospital for bloods and check-ups became further apart. Life became more about being a family and enjoying Stella grow more than it was focused on the medical side of things. Stella slowly met more of her family and got to explore the city’s beautiful walking tracks. By twelve months we felt brave enough to celebrate Stella’s first birthday and had most of the immediate family over for a party, Stella finally got to spend time with her two cousins, who had previously not been allowed to visit. It’s amazing how normal life felt. On the day of her first birthday, Stella started walking, which is pretty incredible, given the amount of time she had spent hooked up to machines in hospital.
Stella is now eighteen months old, she is a strong willed cheeky toddler who loves to dance, read and blow kisses. She is still tube fed but is learning to eat and drink. She is still isolated from the general public and children but gets to see family and friends who are well and vaccinated. Her counts recently reached a level that the specialists were happy for us to stop immunoglobulin injections and we are waiting for tests to see if they remain stable enough to stay off it. The next step will be to start vaccinations once we know Stella’s new immune system is strong enough. If all goes well from here we hope that Stella will have a ‘normal’ immune system and be able to start hanging out with other kids in the next year or two.
We are so lucky. We are so lucky that a bone marrow transplant can be a cure for this condition and that the transplant went well. We are so lucky that Stella didn’t get an infection before transplant and that she pulled through the infection she did get. Mostly, we are so lucky that this condition was picked up through the Newborn Screening Programme and that we live in a country that even has newborn screening. We are so lucky that screening for SCID was added before Stella was born. You would never think that upon hearing your child has been diagnosed with a potentially fatal illness that you would be saying “we are so lucky”. But we did, and we are. Without newborn screening, this would be a very different story. It would be likely that I was telling you about the number of respiratory infections and ICU admissions Stella had before she was finally diagnosed, or that she succumbed to pneumonia and passed away. But that’s not Stella’s story. This is our story, one where we feel so incredibly lucky every day to have the most resilient, strong, brave little girl, happy and healthy at home with us.