The princess was a warrior from the moment she was born on the 1st October 2017. As soon as she was born the odds were stacked against her. A difficult birth had meant the new born princess didn’t take her first breath until 4 and half minutes in the big wide world. She needed intensive care and a lot of intervention to reverse any potential risks from this initial lack of essential oxygen. During this time the princess was strong and fought with all her might. On day 4 she was able to breathe independently and at 8 days old was feeding well from her tired mama and able to go home with her family. During this initial period an image of the princess’ brain had been taken to get a picture of any effects from the lack of life-sustaining oxygen. Small bright spots were visible on the parts of the brain responsible for controlling the princess’ movement as may be typical with oxygen deprivation at birth and plans were put in place to review her brain development on a regular basis.
Bringing the princess home to where she belonged, in her safe, warm castle with her family was amazing. It was good fun introducing her to the older princess who was 22 months old at that time. The older princess was a little bit in awe of her little sister but also wary that she no longer had the full attention of their parents. As it was October the weather was becoming colder and the family enjoyed getting to know the younger princess in the warm surroundings of their home.
It soon became clear, however, that as well as being a fighter, the warrior princess was also a little bit of a diva. Lots of things could make her cry but she got especially upset when her nappy was changed or she was lying down. There were some minor concerns in the early days that her weight gain wasn’t as quick as expected but the main issue was her feeding. The young princess and her tired mama were only able to breastfeed for 6 short weeks as it became clear that breast milk did not agree with her. Each feed would be seen again too quickly and each attempt to try and make feeding more comfortable ended in failure. Both the princess and the tired mama were so upset by these unsuccessful attempts that the decision to try a formula milk was incredibly easy. This formula kept her moderately sustained for a while and this was a huge improvement on breastfeeding. The princess was diagnosed with bad reflux and, later, a cows’ milk allergy and given some medication to improve this. However, her feeding was still not great, and the princess would go through bouts where she would drink less and keep less down.
Christmas passed in a whirlwind of sleepless nights, family traditions and excitement. On Christmas eve the two princesses and the tired mama and dada travelled the streets around the castle exploring the bright lights of Christmas in the neighbouring houses. The young princess had been dressed as an elf and slept soundly in the baby carrier worn by her mama. This was a time of pure happiness and warmth for the princess’ family.
The Early New Year brought more happy times as a family. The princess’ first neurology review came and went with no obvious issues except some minor muscle weakness in her neck and core. The princess felt more comfortable lying down and loved to kick her legs and coo and gurgle as any baby does. The two princesses would have fun kicking along to music or playing in the bath. The youngest princess was never that interested in toys but she loved to face her tired mama and chat away experimenting with the range of noises she could make. Feeding was always tough and the princess never seemed to be full despite feeding for up to an hour at each feed. At one point a nasty cold and bad reflux combined together to produce a nasty chest infection for the princess and this was blamed for her bad feeding. No one knew at that point that something more sinister was going on. It was at this point that the princess’ growth also started to slow down. She started eating purees and for a while she was in her element. She lapped up fruit and vegetable purees like they were the cream of the gods. Mushed peas were her favourite and the look of delight on her face and the vigour in which she ate them and opened her mouth for more was a breath of fresh air. However, this story is a sad one and unfortunately, in only a few months the princess’ health would decline and this love for solid purees would be replaced with discomfort and disability.
The sad part of this story starts with a bite. In May 2018 when the princess was a little over 7 months old she was bitten so hard it was close to drawing blood. This was when the tired mama knew there was definitely something wrong with the warrior princess. The princess should have screamed at the bite, she should have cried huge fat tears, she should have at least made a facial expression to indicate the harsh pain and pulled the foot that was being bit away in haste. Instead, the princess just opened her eyes slightly wider and sat still. This was the first point when the tired mama’s world fell apart. She had had concerns in the preceding weeks that the princess had not been developing as quickly as expected and didn’t seem to be smiling much for her age. The smiling thing was weird as the mama was sure the princess had smiled before but now was almost doubting this was the case. These concerns had meant that the mama had brought forward the next neurological review whereby the doctor had referred the princess for physiotherapy as she had significant muscle weakness. The princess had also been referred to a feeding consultant as feeding was still not improving and bottles were taking even longer. At this point it was becoming clear that the princess’ weight was becoming effected by the feeding issues and high calorie milk and lots of puree was recommended. The tired mama had noticed that the princess didn’t cry very much at all and was sleeping much better – to begin with she thought this was a good thing but over time it was becoming disconcerting, especially when she had to anticipate the princess’ feeds.
The bite happened on a Thursday night the day before the princess’ third physio session where she would be reviewed for further therapy. At the review the tired mama was already upset as her and the tired daddy told the doctors that the princess had stopped crying and didn’t smile much. The doctor checked the princess’ eye movements whilst at the same time she seemed to be putting together pieces of a puzzle in her head:
- puzzle piece 1 – muscle weakness,
- piece 2 – developmental delays,
- piece 3 – feeding issues,
- and the final piece – losing previous abilities (crying and smiling).
Once the pieces slotted together to show the whole picture a look of concern spread over the doctor’s face and within an hour the princess was having a series of blood tests and had been booked in for an MRI scan on the Monday morning.
The blood tests were difficult – they were most difficult for the tired parents as they were so upset when the sharp needles caused nothing but a small flinch from the princess. The day of the MRI was difficult as this hungry princess who needed high calorie formula had to have nil by mouth while she waited deep into the afternoon for the scan. The general anaesthetic from the scan had a strange effect for the princess and she took longer to come round than expected experiencing some breathing difficulties as she woke. The princess and her mama came home very late that night feeling very worn out.
Results from these tests showed high lactate levels and abnormalities on the brain scan. It was now known that the princess had a significant health issue that was affecting how her body could process energy. The family were told that the issue could be a metabolic disorder and there was likely to be no treatment. The tired mama and dada still didn’t know at this point what this really meant and the doctors also needed to determine a more concrete diagnosis through further testing. All the family knew was that the princess had stopped crying because she was too tired to do so. She was too tired to eat and too hungry to sleep. Her body didn’t have the energy to process her feeds and it was at this point that the princess stopped gaining weight.
Soon after the results the princess was in hospital again for a series of tests and consultations – urine samples, lumbar puncture, checks of her heart and respiratory system, consultations with a dietician and a speech and language therapist and a meeting with a genetic counsellor who would test a sample of genes from her blood against her tired parents’ blood. The family were sent back home with a diet plan to try for a couple of weeks to try and increase the princess’ weight and told that a better picture of her condition (now known to be a mitochondrial disease of some type) would be given in 6-8 weeks.
During the two weeks between leaving the hospital and the dietician review the princess slowly reduced her milk feeds and was also taking less of the purees that she had previously loved so much because her slowly diminishing head and muscle control made sitting up for a feed much less enjoyable. Turning up to the dietician appointment the weary mama knew that the decision would be made to give the princess a feeding tube to help her feed. This was another turning point for the tired mama as this was no longer a case of testing the princess for a diagnosis, but this was now the start of some intervention. A date was set for the princess and her ever-increasingly tired mama to come back into the hospital the following week to be fitted with a feeding tube and for the mama to learn to feed her daughter at home. That was a long week. The princess was drinking less and less and now in the heat of July the threat of dehydration was real – the feeding tube couldn’t be fitted quick enough. During that week another scary thing happened. The princess had become extremely fitful as she fell asleep. One night, lying next to her mama in the mama’s bed the normally still and weak princess kicked her legs so ferociously as she was falling asleep and flung her arms and flickered and eyes. This panicked the very tired mama who did not sleep until the early hours of the next morning and after a flood of realisation at the seriousness of the princess’ condition spent the next day talking to GPs and consultants. She was told that the princess was not having seizures but signs of a movement disorder which were likely a part of her mitochondrial disorder.
The princess and her weary mama attended hospital on Wednesday, 4th July for the princess to be fitted with her nasogastric tube. The tired mama was fighting to hold it together as she was still upset that the princess needed an intervention because according to doctors she was “failing to thrive”. It was traumatic for the mama to see her little warrior have the feeding tube put in especially when the princess had no idea what was to come and could not cry to show her discomfort. Nonetheless, it was successful and within a day she was taking in double the amount of food she had been having and even gaining some energy to take more of her bottle independently. The princess and her exhausted mama slept in a bay on a ward with 5 other sick children. In the night another child cried out in bad pain and woke the warrior princess up. She had always been empathetic and would get upset when others are distressed. That night, the warrior princess, worried by the child’s pain, cried! It wasn’t a typical cry you would hear from a baby but it was still a cry. She had done this cry every now and then over the preceding weeks whenever something had worried her and that’s one of the cruel things about mitochondrial disease. Abilities that are lost may come back but unfortunately it is likely to be temporary.
On Thursday the 5th July, after a day getting to grips with tube feeding, the exhausted mama was visited by the doctor and geneticist who had some news about the princess’ diagnosis. They met in a separate room from the ward although the exhausted mama would not be able to recollect which room this was. This was when the blow was dealt. The princess had Leigh Syndrome, a life-limiting, progressive and incurable neurodevelopmental and mitochondrial disease that meant that the princess could not process energy effectively. The exhausted mama can’t remember much more of the meeting apart from how hard it was holding the baby princess whose head control was now so weak she could not be held comfortably. She kept a brave face in front of the doctors but once back to the hospital bay she broke down to the point she could not see through her tears – her main thought “how do I tell the princess’ dada?” A nurse came over and said that given the diagnosis we should go home and be with our family and carry on tube feeds at home. The bed was being kept open over the weekend should we need it and we would be back on Monday for a review and to discuss this new information with the doctors.
On the Monday we learnt that 99% of the princess’ mitochondrial were not functioning correctly. In other words only 1% of the mitochondria in the princess’ DNA was able to process the energy needed for the major organs and cells in her body to function. We needed to be very careful if she were to get any type of illness or new symptoms and bring her back into the hospital – the barriers were set low for any medical concerns at this stage. Leigh syndrome is the most common mitochondrial disease but it still only affects 1 in 40,000 children. In the princess’ case she had inherited the disease from the exhausted mama’s mitochondrial DNA which is passed on through the maternal egg. Results from the DNA testing showed that 65% of the mama’s mitochondria was also affected. What this meant for the older princess or chances for future children we did not know. The exhausted parents’ lives were beginning to fall apart in a huge way but they had to get on as normal as the two princesses still needed them, now more than ever.
On the Wednesday morning the exhausted mama went into the nursery to check on the princess. She was sound asleep (she was sleeping much more soundly these days) but her feeding tube was wrapped round her arm and in a pile on the cot bedding and she needed another visit to the hospital for a new tube. The exhausted mama couldn’t bear to be there for the new tube to be fitted as she had found the last fitting so traumatic. She didn’t know it at the time, but this would later become a decision filled with such guilt for the mama. When the princess came back to the waiting room she looked exhausted and grumpy. Later that day she vomited up a huge tube feed and her nappies weren’t looking too good. With the doctor’s warning about minor illnesses fresh in her head she spoke to her GP who told her to monitor symptoms and make an appointment if there were any new symptoms. The next day the princess was exhausted and drowsy and was very difficult to wake. The exhausted mama tube fed her whilst the princess slept most of the day. She was concerned about the princess’ drowsiness so visited the GP who initiated another visit to the hospital.
On the Friday the princess was tolerating her feeds again. The doctors were not concerned and wished the family well as they were going away for the weekend. However, over the weekend the princess could no longer tolerate purees and again started vomiting from her feeds. When the family returned on the Monday they were advised to continue monitoring symptoms, but the very exhausted mama was uneasy with just monitoring the very drowsy princess and asked for an appointment from her community nurse. The nurse took a sample and discussed the condition with the neuro team and dieticians and the mama was told to hydrate the princess with watered down feeds as by now she had stopped vomiting but still had loose nappies. The nappies seemed to improve as the week went on and by Friday the princess seemed ready for a gentle occupational therapy and physio session at her home. The princess was then so tired after the small movements done through her therapy she then slept straight after. Still tired in the afternoon, the warrior princess could not keep her feeds down and was becoming visibly distressed after feeds. The very exhausted, stressed and drained mama decided to take her straight back to the hospital on the Friday evening.
Over the weekend the princess’ vomiting and bad nappies improved as she was fed a very tiny amount through her tube continuously and by Sunday evening she was showing signs of improvement. She slept most of the day and all of the night and the exhausted mama slept well too knowing the princess was being monitored by the medical staff. The exhausted mama slept so well she even slept through the night time checks. On the Monday morning the mama spoke to the tired daddy and made arrangements with the princess’ nanny about visiting. But then things seemed to happen very quickly. The princess’ breathing suddenly wasn’t quite right and her heart rate was no longer quite as stable. The nurses didn’t seem too concerned to begin with and then all of sudden they were. Very concerned. Nanny arrived. The doctors came in for their morning rounds and asked the mama to ask the tired dada to come in early. Then more doctors arrived, the senior nurse and then the intensive care team came in. It was clear something serious was happening. In a blink of an eye the exhausted mama and dada were being asked to make some incredibly difficult decisions. Just like that, the princess had no more than days to live and that same day her and her family were transferred to an amazing children’s hospice who looked after the family so well.
Unfortunately, this story needs to end now. The night after moving to the hospice with her family, just 3 weeks after the official diagnosis, the princess took her last gasp of breath as she dozed comfortable and soundly on a bed in between the very tired parents who loved her with every inch of their beings. The following days and weeks are a bit of a blur of feeling such awful pain but yet also coping and adjusting to a new normal for the older princess. A strange thing also happened in the weeks following the awful passing of the strong warrior princess. The exhausted mama became less tired. Even in those early weeks she found a strength. The princess had passed on a warrior strength to fight. This new warrior mama would work hard at fighting mitochondrial disease – the battle that her beautiful warrior princess could not fight.
Despite being so exhausted from her disease the princess was always a warrior fighter and that legacy, Ellie Mae’s legacy, will live on through this proud mito warrior mama.
Ellie Mae's Legacy 