Gone too soon-Zach
“My son Zach was born on the 4th July 2013, he was 5.5 weeks premature and weighed 4lbs6oz. He was a small but perfect baby boy who made my world complete on that day. Due to being born early Zach spent 17 days in hospital until he was feeding well enough to come home. Following our discharge, home life was very normal, spending our days at mother and baby groups, swimming classes and messy play. Zach was a very happy and social little boy. As he grew he met all his milestones, despite being premature. He learned to sit, crawl, and cruise round furniture and he had just about mastered walking. Zach loved food and also had developed the ability to feed himself and use his hands to eat finger foods as well as a spoon.
When Zach reached 18 months old, I noticed that he stopped wanting to bare weight on his feet and would revert to crawling, this was unusual given he had been walking aided for months which included walking upstairs whilst aided. It was at this point I contacted the health visitor who asked if Zach had started to ‘learn new things, such as talking?’ I advised he had learned a few words recently, I was advised not to worry as he was probably concentrating on that. Not happy with this advice I attended the GP who made a referral to see the paediatrician due to concern with his hips or feet, this appointment had not come through by the time Zach has lost his ability to weight bare at all. It was 1 week after this GP appointment that Zach stopped crawling, and instead would pull his body along the floor, this happened overnight. I took Zach to A+E, this was the start of our awful journey to diagnosis.
Diagnosis was not easy, we spent numerous days in hospital where Zach underwent significant tests, some of which caused him such distress. We were eventually referred to a more specialist hospital to see a consultant neurological paediatrician. This was after Zach was prepped at our local hospital on 2 occasions for an MRI scan which both did not go ahead. It was at this point I raised a complaint as on 2 occasions I had to starve Zach until mid morning thinking that the he was going receive general anaesthetic to have the MRI. I was advised by the Paediatrician that the local hospital did not even offer these to young children, and he suggested that we consider private care. When we met the neurological paediatrician, he spent 15 minutes with us and Zach and diagnosed him with cerebral palsy, advising that an MRI was not urgent and that we would receive the appointment for this in the post. This diagnosis did not feel right, I had watched my Son develop into a happy healthy little boy and due to my profession, I understood child development and knew if he had cerebral palsy he would not have hit the milestones as he had. I raised yet another complaint about this, however I did not feel that I was being listened to and I have actually seen recording since this date labelling me as a ‘overanxious parent’ of course I was, as I was watching my baby boy decline before my eyes. During the period of time whilst waiting for a MRI to be completed by the NHS we tried to get Zach seen privately but due to requiring anaesthetic this was not an option. Zach also had a significant seizure during this time and was rushed into hospital, this was so frightening as I was unable to settle him or help him and because he did not have a diagnosis, none of the medical professionals knew what to do.
It was on Christmas Eve 2014 that we finally had the MRI scan. Prior to this day I had seen TV programmes where parents spoke of difficult circumstances involving their children or had lost their children and heard them makes statement such as their world came crashing down around them, this was a feeling I understood on this day, I wanted to scream but felt so numb I was unable to. After the MRI we were taken into a room and showed Zach’s brain scan which showed white matter damage, we were then told it was likely he had Krabbe disease a form of leukodystrophy, words I had never heard of before and that this would be later confirmed with more blood tests. We were told Zach would have a short life, I don’t remember much after this and just went completely numb. All I remember thinking is how is this happening? my baby was walking around 4 weeks ago, it Christmas day tomorrow, they have got it wrong! We were sent home with morphine, diazepam and Baclofen told to have a nice Christmas and come back in the New Year for Blood tests. I felt like I had literally been hit by a bus, I was numb and unable to retain any of the information that had been shared with me. I remember thinking that they had it wrong and that what they had just told me wasn’t true and that they were going to call me immediately and apologise as they had made a mistake. This didn’t happen and the symptoms of Krabbe disease rapidly progressed. I watched everyday as my son’s physical abilities deteriorated.
By mid -January, Zach was being fed via a Nasal gastric tube. He hated having this changed and I hated watching him go through it. The reality of the diagnosis still had not sunk in, to date I still don’t think it has. Zach was very irritable at the beginning, I now know that this was because he was in pain as Krabbe disease effects the nervous system causing nerve pain. As symptoms progressed we became experts in a number of medical conditions however due to Krabbe being so rare the medical team around us learned at the same time and we were often left at times with no answer on how to manage symptom as there is so little known in the medical field about the disease. Between January 2015 and November 2015 Zach lost the ability to walk, talk, sit up, hold his head up, eat, hold, items, he lost his eye sight and his hearing. He experienced significant reflux and vomiting and continually vomited his NG tube up, resulting in an operation in March 2015 to have a PEG fitted. This reduced the vomiting however Zach did not respond well to surgery and spent time in intensive care, he suffered 24 hours of significant pain as the team around him could not link the disease and the symptoms of it over the actual pain from the surgery, he required a higher dosage of medication which clinicians were initially not prepared to give. As the disease progressed further Zach suffered significant seizures often resulting in me as his mummy administering a rescue medication. I had to administer medication to sedate my 2-year-old son, after each episode I would hate myself for having to do that to him. Zach required 12 medications per day these included pain relief, sedatives, seizure control, muscle relaxing medications, ones for reflux and constipation. Towards the end of Zach’s life, he rarely spent time awake. Zach required oxygen continuously and nebulisers on a daily basis. As he lost his ability to swallow he also required us to use a machine to suction out his mouth to avoid choking or fluid going on his lungs.
Krabbe is a cruel disease that usually effects children much earlier than it did Zach. It effects 1 in 100,000 children and diagnosis is usually at around 6 months as children do not develop in line with the normal milestones. Zach showed no symptoms until 18 months, I often wonder if we knew when he was born would this have made a difference? Could he have been saved? The realistic answer to these questions is probably not as currently in the UK there is no treatment or cure for Krabbe disease. This is why research is so important into rare diseases to save children from the cruel and devastating impact of them. Had we known earlier or had there been more known about Krabbe disease, Zach would have been diagnosed sooner, he would have had treatment and he would not have experienced pain and discomfort as much as he did.
Krabbe disease is a cruel disease but in the 10 months Zach lived with it he never seemed to complain and as his mother I made sure he never saw me complain, cry or look sad. We lived each day at a time and made the best memories we could. In the 10 months of Zach’s illness we met the Newcastle Football team, he spent the day with Thomas the tank, met fireman Sam (who he loved) he got to be a Zoo keeper for the day and met a bear (his favourite animal) he got his own dog named Sam and we made a sensory garden in our own garden, where we spent lazy days reading his favourite books. Despite losing his physical abilities he continued to smile and laugh, and it was for that reason I did not allow myself to fall apart.
My grief process began when symptoms did, as I was losing my baby boy a day at a time as he lost his movements, his voice, his abilities. Zach past away on the 12th November 2015 after having pneumonia. I can’t relay much about that period of time. We had a hospice near to us who provided us with end of life care and enabled me to stay with Zach until the day before his funeral. During that time at the hospice I continued on as normal, talking to Zach, singing, reading a bed story and saying goodnight. The day before the funeral I was advised to go home. It is not possible to put in to words how I felt when the reality of having to leave and why sunk in. Loss is always difficult in any circumstances, but losing your child is an unexpected and unbearable one. Despite knowing Zach had a terminal illness due to having a rare disease I was never able to accept this, I always thought by some medical miracle he would overcome it, that some scientist would find a cure and he would get better and that I would have my beautiful, bubbly lively baby boy back. Putting the grief I have into words is difficult because I have still not got to a place of acceptance and I think this will always be the case, I think my reason for this is because I believe it should never have happened, my son should not have had a disease that could not be cured.
It is important that the grieving process is seen as a continuum and not just an episode. 3 years on I still have extremely bad days where I am lost, and the pain is unbearable, but I also have good days where I remember Zach before he was poorly and how his beautiful smile charmed those around him. There isn’t a day that goes by where I don’t talk to him or to someone about him and how amazing he was. Since losing Zach, I have also become a trustee for Krabbe UK, a small charity whose focus is research and family support. Being involved in the work I do for Krabbe UK allows me to support other families who have or are experiencing what we did, it also allows me to share awareness of the disease in the hope that more research will be done, to hopefully one day find a cure for it so no other child has to experiences what my son did.”
To find out more about this condition you can visit Krabbe UK on www.krabbeuk.org