Jakob is our amazing little boy, who happens to have an undiagnosed genetic disorder. Jakob’s life to date has been a bumpy one. He was born at 36 weeks weighing in at 2.07kg and 43cm long, a little small for his gestation. It wasn’t until after his birth that questions were raised about Jakob’s appearance and size. He stayed in our local hospital for a few weeks to establish feeding (his suck reflex wasn’t very strong) and to gain weight and it was during this time that genetic testing was discussed and the initial tests were carried out.
Our journey with The Royal Children’s Hospital (RCH) began in December 2011 when, at three months of age, Jakob was transferred from our local hospital for further medical investigations. We had taken him to the local Emergency Department after weeks of feeding issues and a feeling that something was really not right. He had developed a need for oxygen therapy and the local paediatricians were not completely sure why, so a decision was made to transfer him to the RCH.
On arrival at the RCH, a MET (medical emergency team) was called for Jakob immediately as he was in respiratory distress. He was taken to the Emergency Department where the team decided he required breathing support, so he was intubated and placed on a ventilator. It was an incredibly scary and overwhelming experience to be by yourself with a baby who was in extreme distress, to have so many medical professionals in the room around you and for so many questions to be asked so urgently about your child. It was a situation that I would become rather used to in the following 12 months.
Jakob went on to spend time on Butterfly (Newborn Intensive Care Unit (NICU)) and from there he was transferred to Sugar Glider (General Medicine Ward). The suspected cause of his respiratory failure was aspiration pneumonia. He had his first Christmas in NICU and we had Christmas lunch at the Ronald McDonald House. It was a really trying time for us. On Christmas Day we were so touched by the beautiful card the staff had made with Jakob’s footprint and the tiny teddy tree decoration. The teddy has been on our Christmas tree at home each year since! After about eight weeks in hospital we were able to take our little boy home.
It was, however, only the beginning of our hospital journey. Jakob returned to the RCH later in 2012 on a number of occasions and for another major admission which lasted about four months. He continued to have ongoing respiratory and aspiration issues and spent time in Rosella (Paediatric Intensive Care Unit), Platypus (Surgical Care Ward) and Sugar Glider.
His first birthday started with an ambulance ride back to the hospital after a day at home, lots of time in the Emergency Department and the discovery of a partially collapsed lung! It was an eventful day but the staff were fantastic and bought him an Elmo balloon and made special Happy Birthday signs for his bed. We managed to throw him a first birthday party a few weeks later outside in the hospital grounds. Unfortunately Jakob couldn’t attend because he was back in intensive care, but it was really nice to be able to celebrate such an important milestone with our family and close friends.
Jakob has a number of differences in his body to typically developing kids. He is quite small. His bones do not grow correctly and this means the proportions of some parts of his body are different, so for example he has short arms. He has a bilateral hearing impairment that is made up of both a neural loss and a conductive loss. He has hypotonia or very low tone in his muscles. This has led to his fine and gross motor skills being quite delayed, and has probably impacted on his feeding skills which he has had lots of issues with too. At present he has no verbal language. He has required the support of home oxygen therapy and enteral (tube) feeding for the last two years. So far none of the testing Jakob has had has given an answer to why he has these differences. We still do not have a diagnosis for him.
We are, however, very lucky to have a fantastic medical and allied health team supporting Jakob. We make regular trips to the RCH for reviews with his different specialists. Jakob enjoys these trips. He finds the hospital to be an exciting place and loves to visit the meerkats and fish tank! In the last six months he has made enormous progress, becoming more medically stable and making lots of little developmental gains. Last week he was able to come off oxygen! It is an amazing step forward for him. He is almost sitting, can commando crawl very well and has made lots of progress with his feeding too.
We have just started a special Facebook page and website for him to help keep our family and friends updated on his progress and to help educate the wider community about children like Jakob. If you are interested in reading more about him and following his journey, you can visit www.facebook.com/jakobengley or www.masterj.org.
Without the amazing support and work of the RCH Jakob wouldn’t be with us, and he would not have had the opportunity to grow into the cheeky and determined toddler that he is today. Thank you to each and every person that has been involved in his care over the last two and a half years. Extra special thanks to his primary care team and to the Family Choice Program team, the support you have provided and continue to provide is second to none. A big hello and thank you to the Sugar Glider team too! Finally thank you to the Ronald McDonald House and their volunteers who provided us with a home for many months during Jakob’s admissions.
Dani McLennan – 2014
Ed’s note: Jakob received a diagnosis of CHOPS Syndrome in 2016