11.01.2016 – 16.04.2018
Our son Daniel was born an ‘easy baby’…. gentle and sweet from the very beginning.
We hadn’t planned on having a second child so soon or even at all, but we were beyond excited when we heard we were pregnant so easily the second time after having tried for two years to have our first son, Alex. And when he was born we could just see God’s design in knowing what a perfect fit Daniel would be for our family!
He was kind, sweet, loving, cuddly, and absolutely adored his brother from the get-go. He was a quiet-ish child, in stark contrast to his brother, but still very much had a quiet confidence. Daniel was a perfectly healthy child, who gave us a couple of scares every now and then with what were thought to be breath-holding incidences related to when he would cry from being hurt or upset…and he had the odd stuffy nose and a couple of bouts of tonsillitis (which the doctor was not keen on removing)…but that was it!
Daniel passed away at two years and three months old, a week after his brother’s 4th birthday party. We didn’t know it at the time but he obviously had a genetic predisposition to develop ANE and this, through a pathophysiology not yet well described, allowed a simple virus to go to his brain which lead to very rapid changes in his brain stem. In searching for answers and a diagnosis after Dan’s death, more than all the medical resources available online, it was actually accessing very real stories that parents had written about the loss of their child, that eventually lead us to understanding what had happened to Daniel. For this reason I would like to give a detailed account of what happened to Dan, so that Daniel’s story can be
added to the information available for parents who are searching.
(Please note that the following account of Daniel’s hospital experience and death may trigger deep emotions in some readers.)
Daniel passed away very suddenly on Monday 16 April 2018. Prior to this he had been withdrawn-ish etc for approx 2 weeks. Not sick, but just not quite himself-a bit withdrawn, but then again he was always a rather quiet and gentle child. He had a mild temperature for two nights in this time but he had a tooth coming out and a bit of a red throat and bad smelling breath and we had thought we would take him to
the doctor if it persisted past the second day, which it didn’t. I still thought that his immune system must have been improving when the problem seemed to resolve. I had taken him to the ENT a little while before this on referral from our GP as Dan had recurrent tonsillitis. The ENT had decided he wouldn’t do tonsillectomy due to Dan’s age, despite the fact that Dan had ‘kissing tonsils’ and I reported that Dan would sometimes bring his milk back up from coughing possibly due to the tonsils.
On the 14th of April, early hours of the morning (Saturday morning) Dan woke us up for milk and then coughed and brought the milk back up (which he normally did when post nasal drip was bothering him).
On Saturday night Dan got a high temp. We gave Ponstan and Panadol and it came back down easily. On Sunday morning I gave him more of the medicine in case as I didn’t want his temp to shoot and he seemed absolutely fine. He went on an outing and was having fun and dancing.
Sunday afternoon at 2.30pm he got another temp and didn’t look good. My husband took him to the hospital at about 5pm and the doctor said it looked like tonsillitis and prescribed antibiotics. We gave him his first dose when he got back from the hospital. He was lethargic and lay on the couch and then I put him to bed. He woke at 11pm and I gave him two suppositories-1x Ponstan and 1xEmpaped. He went straight back to sleep. He woke us up at 4am (crying) and I put him in bed with my hubby while I tried to get some more sleep. He settled easily. He drank some milk. My husband woke me at 4.45am to say Dan was shaking. I took his temp and it was normal (36 point something) and I thought it must be wrong. He was shaking but was conscious.
We gave him an Empaped suppository. He still nodded his head yes when we asked him if he wanted to go to the doctor and this was while shaking. His eyes did not roll or any other behaviour out of the ordinary. He was still able to talk. We decided to give a Ponstan suppository too as he was still shaking and he had never done this before and we weren’t sure what else to do. The temp was still normal. We saw the Empaped had been pushed out so we put it back in and gave Ponstan too and ensured both stayed in. We went straight to the hospital. He was still able to talk before leaving for hospital (he said ‘mommy, mommy, mommy’). On the way I took Dan’s temp and it was 41.5 with an underarm reading. Dan was becoming less responsive and he looked super sleepy but did not shake. He just felt ‘dead weight’ and non responsive.
We went into ER and awaited the doctor’s break while telling
the nurses what had happened. They gave him more suppositories. He seemed really non responsive. The doctor did not seem to be reacting and helping us. I said that Dan was seeming to be acting abnormally for a child with just a temp as I had never seen him so unresponsive and sick looking. They put us in a room with an aircon. I asked for someone to please assist us. The ER doctor said we could go to the paed ward. They put us in a waiting room. The nurses seemed to just keep us there waiting for someone. I went out to the nurse’s station and asked for more immediate help. The head nurse joined us straight away.
Dan seemed to have what was a seizure and he lost bowel control and the suppositories all came out. They re-inserted some. I asked why we couldn’t put up a drip for the med’s and was told he didn’t need one. I was concerned about the temp and getting that down as I thought that is why he had a seizure. The sister called an interim doctor as the paed was still on the way to the hospital. In the seizure Dan had I could see that his eyes went ‘very funny’ and appeared uneven. He was then having repeated startle reflex looking movements. The interim doctor came and said Dan looked fine. I mentioned the eye difference and she said it was all fine. The nurse said she could see Dan’s eyes weren’t right. He carried on doing the startle movements. The paed then came. I explained to the paed that Dan was a known patient to him. And I explained the following to him as a side note:
At 1 years old Dan had what looked like a mini seizure at home. His brother had hit him and he cried and then passed out and rolled his eyes and went stiff and his lips looked like they went blue.
We went to the pead (same pead as was treating him on the 16th April), who said it sounded like a breath holding incident. He then repeated this behavior at four separate times. Each time crying was involved and the pead said that there was no need for an EEG as it seemed like harmless breath holding incidents. Dan had the last one around November 2017. I, (Dan’s Mom), have vasovagel episodes if I hurt myself and the pead supposed that Daniel had inherited my parasympathetic nervous system.
They put up a drip apparently for fluids. I noticed Dan did not respond to the pain of being pricked at many sites trying to put up the drip. Dan then had another seizure in front of the doctor. He arched his back and looked up to the ceiling eyes wide. He moved his body a bit. The paed gave Dormicum rectally. Then Dan had another seizure and the paed gave more Dormicum. Dan seemed quite sedated at this stage and the nurse said that it was due to the Dormicum. They moved us to another room. The doctor and nurse had a conversation in front of us but were addressing each other. They discussed that Dan seemed to have FIRES. I was amazed that there seemed to be a quick tentative diagnosis without much testing. The doctor asked the nurse to order ketogenic feed and explained this to us. He said we would need an MRI. I was surprised that they were thinking of an MRI so soon as about two minutes prior we seemed to be in crisis mode with uncontrolled temp and seizures and I had been quite inwardly panicked. The doctor discussed the possible need for ICU but expressed concern with the nursing and bugs in the ICU and had tentatively decided to set up the room in the paed ward as a type of ICU room, which they could consider later. The doctor left. A few minutes later the nurse said we would be going to the MRI. Dan had an oxygen mask on. We were told Doctor would be at the MRI. A nurse unknown to us came with us, only one nurse came with us that we can recall. We went with a machine and an oxygen tank. I went into the MRI room as we were told only one parent could attend. I was told that the doctor had to run to another patient and couldn’t stay. The staff were concerned about hurrying before Dan ‘woke up’.
The stats machine was not working. They tried twice and couldn’t get it to work. The radiographer/radiologist said that they would proceed without the machine but that they would ‘monitor’ him and also monitor him between scans. She asked the nurse and the nurse agreed. He seemed so far into the machine and I asked the nurse how I would know he was okay. She told me just to watch his blanket go up and down, which I did. The MRI seemed very long and they went from one scan to the next. When I looked at the radiologist she just gave me a thumbs up and continued. When they stopped the test and pulled him out and handed him to me I could hear him battling to breath!
He vomited through his mouth and nose and very brown liquid came out. He was struggling to breathe (I could hear labored breaths and his breathing looked shallow). My husband and I put Dan in the recovery position and screamed for them to call the doctor and I ran his cart back to Paed ward with the nurse as no one around us knew what to do. Dan was hiccuping when I was running his cart to get help-perhaps another seizure? The nurse mentioned she thought he might have had another seizure.
As I got there the doctor also got in the lift and came to the ward with us. As we looked at Dan he was completely mottled-dramatically! My husband said, ‘look! he has had a reaction!’ The doctor was observing Dan from behind but Dan was facing us and we saw that he had stopped breathing (it was seconds after the doctor was listening to his breathing/whatever he was doing with his stethoscope). The bottom part of his tummy went concave and he gave out a last breath. We alerted the doctor. The doctor called for us to be removed from the room and he began suctioning first and then doing resuss. I heard him say he would need to almost do a tonsillectomy to intubate Dan. After a long wait they came to tell us that they had resuscitated him and had taken him to the ICU. We waited a long time before seeing him. I asked the doctor what had happened. He said Dan had gone into cardiac arrest and he was now on cooling. He would need time to pick up blood pressure. His blood pressure was so low. He said that Dan’s MRI showed that his Basal Ganglia and Hippocampi were badly affected. He said he could not understand why his basal ganglia was affected (he said the Hippocampi damage was consistent with FIRES but perhaps it was ADEM as the Basal Ganglia was affected). Later when doctor came back he saw that Dan’s kidneys had not worked all day. He said that it was likely that the pure adrenaline had damaged Dan’s organs. He said that Dan had vasoconstricted from all the adrenaline. I saw that Dan’s eyes were fixed and I asked doctor if Dan’s brain stem was the only thing left of his brain. He said that he thought all of it, even the brain stem was gone.
He came back at about 6.10pm and did the brain stem tests and tried taking Dan off the respirator and determined that his brainstem appeared ‘dead’ and that his organs were not working. He told us that he would stop the medicines and then the ventilator/respirator and that we could all say goodbye. As he stopped the medicines Dan passed away, although he had probably passed away at 11am when they had tried resuscitating him(?).
When we had a follow up appointment with the doctor, it was clear that he did not actually know the diagnosis and at this stage we had already proceeded with the cremation and autopsy so genetic testing was not possible. None of Dan’s blood had been stored and so we could not test this either. We weren’t even sure of the initiating virus as this information could not be provided. In short, the doctor said that we knew it was something that had turned neurological and that he was not enthusiastic about referring us to a neurologist as we should focus on accepting what had happened. When I made myself another appointment to see the doctor as he had not responded to further requests to meet and ask him more questions, he stated that I was being irrational in my concern that what had happened to Dan could be genetic. I had done a lot of reading and had realised that it was unlikely to be FIRES and all other possible conditions appeared to be genetic, not being a doctor myself I was hoping for some help. The doctor reported that he was not interested in digging further and had no further information for me. The MRI results and blood results from the day as well as my account of what had transpired was what I then presented to other doctors who were very helpful in trying to look for a diagnosis for us. One paediatric Neurologist from Durban (an amazing doctor who treated us humanely) put Daniel’s results on an International forum and many other doctors responded to say that the symmetrical bilateral picture of the MRI was consistent with ANE.
I had never heard of ANE before. I contacted the Encephalitis Society, who mentioned ANE International. I emailed and was helped immediately by Kim. Another South African family from the ANE family support group put us in touch with Paed Neurologist, Dr. Gill Riordan in Cape Town, who was absolutely phenomenal. She was able to confirm that she felt that Dan’s MRI was consistent with the specific picture associated with ANE. ANE was the first diagnosis we had heard of that could account for the rapid progression of Dan’s condition. She also mentioned that the only other diagnosis she feels would fit was that of an encephalitis. We had genetic testing (RANBP 2) and the tests came back negative, meaning that Daniel must have had a new mutation of the gene and it was not familial.
It is unknown how Daniel being unmonitored in the MRI affected the outcome of the day. We have no idea whether hypoxia played a role, he certainly demised within minutes of coming out of the MRI machine. We have not been given that information and the fact that Daniel was unmonitored during the MRI was not in the doctor’s report from the day. It was very difficult for me to forgive the treatment that Daniel and our family received on the most traumatic day of our lives. I take comfort in knowing the God has the ultimate say over life and death and He is above any mistake that anyone makes.
We experienced terrible end of life practices at the hospital. I only had minutes to say goodbye to Daniel and that has been a hole in my heart since that day. I would very much like to be involved in ensuring better end of life practices in hospitals in the future. On the day Daniel died, in the minutes that I realised that it was real and that he was never coming home with us, I wanted to die. I had always said that if anything happened to my children I would just die…and there I stood not being able to die, not being able to go with him. It felt so wrong and I just prayed that God would let me go too. To parents who are experiencing this kind of anguish and loss, I would just like to say that you will live again. We will always live with the loss and that will be a part of us that will always remain….but you will live again and you WILL find strength again….acceptance will come…but don’t rush there.
Grief is a very personal, journey-take your time and allow yourself your feelings, reactions and pain.
Our strength came from the comfort we found in God and the amazing friends, family and people who
became friends, who He put on our path… and two years later I still live with the effects of the trauma
and loss and rely on God’s grace for each and every day!
To us, Daniel still exists…in heaven and in the parts of us that are tied to him…and we cannot wait to see