Our precious little Scarlett May was born on 15 October 2013. She was a perfectly healthy 8lb 10.5oz baby girl. We were overwhelmed with joy for the newest addition to our family.
We were just like any family with three young children, busy being busy, planning our lives and our futures together. We knew that Scarlett and her big sister Annabelle would grow up to be best friends and that Jacob would be the protective big brother (once he learned to share his mummy and daddy). We knew that one day Scarlett would be a big sister herself and grow up loving her younger sibling/s as fiercely as Annabelle and Jacob loved her. Our life was far from perfect but it was perfect for us.
As parents, one of the worst things we all experience at one time or another, is dealing with sick kids. It is such an awful thing to go through; to be completely helpless, to be able to provide only hugs and prayers in the hope that we can love our children better while time and medicine does its work. With Scarlett’s two older siblings, we were used to handling sick babies – or so we thought.
When Scarlett was 2 months old she developed a minor cold after which we noticed she had a deep rattle in her chest. There was nothing more to indicate to us that she was unwell – no unsettled behaviour, no fevers, no drop in weight gain, just a small rattle that over time we were able to hear as she breathed in and out. At her 4 month check-up we mentioned this to our family doctor who referred us for x-rays to rule out anything sinister. It turned out Scarlett had some congestion in her lungs, which we assumed was from the cold she had contracted a little while earlier. The doctor indicated that when she learned to cough, she would eventually move the congestion and it would clear – no big deal.
Just as we were told to expect, Scarlett began to cough. We saw this as a good thing even though it sounded awful. She was finally able to move that congestion and all would be ok… until it wasn’t.
On the evening of 15 April 2014 at exactly six months old, we took Scarlett to the local hospital. Her cough had changed. It sounded really nasty and was causing Scarlett to gasp for breath. After being discharged, admitted to a larger hospital, two long sleepless nights and multiple tests, we were advised Scarlett had an unnamed virus. In addition, the doctors noticed some odd posturing in her upper body and advised us that they suspected she had Cerebral Palsy.
As the mother of an otherwise healthy baby, hearing that Scarlett may have a limiting condition was devastating. We spent the following 6 weeks working towards obtaining an official diagnosis so that we could start getting her the help that she needed.
The morning of our paediatrician appointment, when we were to receive the results of Scarlett’s diagnostic tests, our darling girl stopped breathing. I was home on my own with our three children, at the time all under 4 years old and my baby was in my arms losing consciousness because she was unable to breath. There was nothing that I had ever experienced that had caused me more terror or panic, than seeing my baby, fighting for breath.
Scarlett spent the next month in hospital. After consulting with 11 different specialists, undergoing tests for countless conditions, and spending a night in the Paediatric Intensive Care Unit when Scarlett stopped breathing again (called an apnoea), we were finally sent home. Scarlett was on permanent tube feeds, we had a suction machine to help her manage her secretions and a loose diagnosis which included an intermittent squint (misalignment of the eyes), severe acid reflux, floppy airways, difficulty swallowing due to bulbar palsy and abnormal toning of her upper body. We were set up with a treatment plan which included lots of physiotherapy, occupational therapy and speech therapy in the hopes that eventually Scarlett would grow out of these problems. It was a loose diagnosis at best, but it was all that we had. The doctors were unable to explain the combination of symptoms they were seeing in Scarlett and had ruled out all of the more common possibilities.
We spent 5 days back at home before Scarlett had another apnoea. This landed us back in the hospital for another 10 days, only to leave with her on full-time oxygen and no more answers than we had before.
At this stage we were a little more than concerned. How could one seemingly healthy, full-term baby have so many problems, all of which were apparently unrelated? We were devastated for Scarlett, knowing with all these challenges ahead of her, she would not have the normal childhood we had hoped for. She was to be on feeding tubes permanently and oxygen full time. How would she run and play with her siblings?
Another week at home, during winter, with Annabelle and Jacob both sick with colds and conjunctivitis and we were back in the hospital so the doctors could help manage the new infection Scarlett had picked up. At this stage, Scarlett and I had already spent the better part of 2 months away from Aidan, Annabelle and Jacob and we just wanted to be back together, to be a family again.
Within days of being back in hospital, with no further idea of what was making her so unwell, Scarlett developed even more symptoms. Scarlett vomited bile. We had seen this before and when described to the doctors they concluded she must have brought up stomach acid, which is very common and nothing of concern. When she vomited up the bile in hospital however, it was obvious this was not something minor. Within an hour Scarlett had been taken for an investigative ultrasound and the doctors were talking about possibly needing emergency surgery. The doctors were concerned Scarlett may have had a bowel obstruction, which caused her body to push bile from her intestine and into her stomach. This was potentially life threatening.
The ultrasound revealed that Scarlett’s bowels were fine but that her spleen and liver were extremely large. Up until that point in time, all the doctors’ investigations had centred around Scarlett’s breathing problems. There had been nothing to indicate any problems in other areas of her body. The doctors took blood from Scarlett immediately to send off a number of other tests to see if this new discovery could lead to a diagnosis. The possibilities were frightening and most of them life threatening – things like blood diseases and cancer.
We met with a haematologist who questioned us about our family history, of any severe illness; cancers; congenital issues; childhood illnesses; childhood deaths. Nothing that we could tell them revealed anything about what was happening with Scarlett. They took more blood from her and began searching for other possible causes for why she was so unwell.
From here things became progressively worse for our little girl. We had left Scarlett in the hospital ward, asleep and on constant monitoring so that we could attend a counselling appointment. When we arrived back at the hospital, we stepped off the elevator and my heart sunk into my stomach. The ward emergency alarm was blaring and I just knew that it was for our baby. Scarlett had yet another apnoea. This time her heart had stopped…and I completely broke. Our baby died and we weren’t there with her. The ward nurses and ICU team revived her (and me) that day.
Scarlett spent five days in ICU before being transferred back to the baby ward, a place quickly becoming our ‘home’ in the hospital. We were told that some tests had revealed an abnormality with an enzyme in Scarlett’s blood and further tests were being done to determine exactly what that meant.
Less than a week later, Scarlett crashed again. This time she had to be paralysed before the doctors were able to intubate. Scarlett was without sufficient oxygen for about 30 minutes. When back in PICU, the doctors began to cool Scarlett’s core body temperature in an attempt to reduce any permanent damage from the oxygen deprivation. She had severe damage to her lungs, and could also have suffered brain damage and still we had no answers as to why our baby girl was so unwell.
It was at this point, sitting beside our darling girl’s bed, while she lay there intubated and paralysed, receiving at least 8 different drug infusions, that I was approached by one of the respiratory specialists. I will never forget his words to me that day. He said to me, ‘I am looking at a very very sick little girl. She isn’t getting any better and I’m not sure that she will.’ It was like he had slapped me across the face. Up until that point in time, no one had indicated that what Scarlett was going through couldn’t be fixed. We just needed answers and then we could work on a plan to get her home. We could see that our baby girl was getting progressively worse and no one could tell us why. We were so desperate for a diagnosis. A diagnosis would give us a treatment plan, something to keep Scarlett safe and to help her get better so that we could go home and go back to being an ordinary family… but the diagnosis we received was not one of hope.
Gaucher’s Disease Type 2 (GD2). No doctor in the Mater Children’s Hospital in Brisbane at the time had experience with this condition. The paediatrician who gave us her diagnosis could only tell us what he had been able to read in the time he had before sitting down with us. We then met with a geneticist who explained that his best estimate was that Scarlett might have 3-4 months to live. At best, she might live to be 2 years old, but her condition had progressed so quickly, it was unlikely she would get that far.
What do you do with that information? What are you supposed to do, as a parent when you are told that there is nothing you can do but pray and hope that they got it wrong, pray for a miracle, pray to wake up from the nightmare? Hearing that your baby is going to die and there is nothing that you can do to change it is crippling.
With a diagnosis in hand we began working with the PICU team on ways to keep Scarlett as safe as possible while enabling us to take her home. Our biggest problem was how to manage her apnoeas. Scarlett’s lungs were too damaged to enable her to have a tracheostomy, which may have saved her from the apnoeas altogether. Each apnoea was more severe than the last and every time she had one, she was scared and panicked and would stare at us, wide-eyed with pure terror, fighting to breath, fighting to live. We wanted to make sure above all else, that if our baby had to die, that she would not die in fear.
The PICU team tried to get Scarlett off the breathing support and each attempt failed, resulting in another intubation. Every time those tubes were forced into her airways to keep her alive, more damage was sustained and her recovery time was longer and longer.
On 2 September 2014 Scarlett was extubated for the last time. We didn’t know whether we would have minutes, hours, days or weeks with her. All we knew was that she kept experiencing apnoea episodes and that every time she was intubated to keep her alive, more damage was done and it took her longer to recover. Scarlett made it through that day and ended it by giving us the precious gift of hearing her voice for the first time in over three weeks. This was also the last time we heard our baby girl talk. The next day we were transferred back ‘home’ to the ward where we spent the next week together.
During that week back in the ward, with Scarlett on a steady sedation to keep her calm and comfortable, her organs began to shut down. At this point her abdomen was so distended that all unnecessary fluids were eliminated. We were warned that it would only be a matter of days before our baby would be taken from us.
At 6:30pm on 10 September 2014, while cradled in our arms, Scarlett May took her last breath and ascended to heaven.
Losing our baby was soul-shattering. There is nothing else that we have ever experienced that has come close to how unbelievably painful it is to walk through this life with a piece of your soul missing.
If there was a way we would have our little girl back in our arms, we would give everything we have and ever could have, in a heartbeat, just to see her gorgeous little face smiling back at us one last time.
Before Scarlett’s diagnosis, we had no idea that this disease existed, most of the doctors in the hospital hadn’t heard of it and because of the lack of awareness, it took until 4 weeks before she died for us to receive a diagnosis. We have been told that given the rarity of GD2 that we were extremely lucky to even have had an answer.
Our lives have been forever changed because of GD2. We now walk through every day under a cloud of grief and heartache, we are now the parents to an angel baby, we spend mothers’ day and fathers’ day, birthdays and angel days, Christmases and Easters in a cemetery beside her grave. We talk to our other children about death and heaven and life after death. We missed celebrating Scarlett’s first birthday and her second, third, fourth and fifth and every other birthday to come. We missed her first day of kindergarten and her first day of school. We have missed out on seeing her play with her siblings, missed seeing her become a big sister. We will miss seeing her dancing concerts and her school awards ceremonies, her graduating high school and meeting the love of her life. We will miss her wedding day and all the grandchildren that she may have given us. We will spend the rest of our lives missing everything that Scarlett was and all that she ever could have become.
GD2 not only took our precious Scarlett from us, but also complicated our lives in a way we couldn’t have imagined. We had always planned on having a big family. Never did we think that falling pregnant could be a terrifying thing. Aidan and I met with the geneticist to discuss our options for having other children when the time was right. We were given all the possibilities – IVF with genetic screening; early prenatal screening; abortion; obtaining an egg or sperm donor – and for various personal, moral and faith-based reasons, none of these options sat well for us. We knew that our family was not complete but we were also now aware that there was a 25% chance that every pregnancy could result in another terminally ill baby.
GD2 might be considered a rare disease, but for us it is 1 in 4. We count our blessings that our eldest two children and Scarlett’s little sister, Madalyn are all perfectly healthy. This disease has had a ripple effect for our entire family. Each of our siblings who have had children after Scarlett’s diagnosis have been tested, the remaining siblings each have that hurdle to jump when they decide to have children. No longer is having another baby an easy decision for us. An unplanned pregnancy could be terrifying. All our children will need to be tested for carrier status, along with their partners, when the time comes.
GD2 genes sit within our family lineage and will have an impact for years to come.
Just because it is rare, it doesn’t mean it doesn’t matter. Awareness means that the next child may be diagnosed sooner and be able to receive the enzyme replacement therapy giving that baby more time with their family. More awareness means that more time and money may be put into finding a cure, it means that hopefully by the time our children have children, or our grandchildren have children, that this disease won’t be a death sentence, but may be something treatable and manageable.