Let Me Tell You All About James

James is my eldest son, my first born. He’s 25 and very handsome (I may be biased!) He has a cheeky smile, an infectious laugh and a wicked sense of humour. He’s small in stature but big on noise. He is non-verbal. He is stubborn. He loves music and ‘sings’ along in his own inimitable way. He likes swimming, doing puzzles and playing ball. He has awful tantrums, shouts and cries……but can be laughing 2 minutes later (thankfully). James is all these things. He also has Wolf Hirschhorn Syndrome and Autism. He is unique.  He is loved very much by his family.

James’ Birth

My pregnancy with James was normal. I was well, I’d had no sickness, I’d worked throughout. In the morning on the day he was born I was up a ladder finishing decorating our hallway. James was breech and born by caesarean. I should have known then that this little one was not going to make life easy. And he was little. He was 4lb 10oz (2.09kg) which was a total shock. I hadn’t expected him to be a big baby but I was concerned he was so small. He did however pass his APGAR test (this is a test the midwife will do on the newborn to test their responsiveness after birth which is then repeated 5 minutes later to test how they are doing outside the womb). The maternity staff assured me he was well and healthy, he looked perfectly formed..…just very small. We’d already chosen his name and so, here he was and James was going to make his presence known.

This was in the day before we all had mobile phones so when my husband, Darryl, went home from hospital that night there was no contact until he arrived the next day. As the new dad came into my room the next morning armed with flowers and excited to see his new baby, what he actually found was a room full of doctors and staff who were placing James into an incubator and taking him to the special care unit. James had not fed overnight and had become weak and floppy. 

Worrying Times

As James had been born in the evening no family had yet visited and seen him. I remember making a phone call from the pay phone at the end of the maternity ward to my mum and saying they needed to visit. We really did not know at this stage what was going to happen.   

The doctors feared James may have meningitis and did a lumbar puncture which confirmed  he did not. Darryl and I were taken to a small room where a doctor sat us down and explained that they thought James may have a genetic condition. We tried to take this in and I remember the excitement from the evening before being stripped away from us as we sat and cried together. 

Emotions Ran High

James spent 3 weeks in the special care unit. Initially I was still on the maternity ward as I was recovering from the caesarean. That was very hard for me being surrounded by mums with their new babies. I’d spend as much time as I could with James. Darryl had to work but came as much as he was able to. Once I was able to leave the maternity unit I was given a room along the corridor so I could stay at the hospital. I was glad to be out of the maternity unit but it did mean I spent time alone in my room when not with James. It wasn’t the introduction to parenthood we had expected. 

Genetics

During this time the geneticist came to see me. He took a family history from me and asked many many questions. I will always remember how he left me that afternoon with the parting words ‘enjoy your son while you have him,’ and then he left me alone. 

James had some chromosome tests. We were so relieved when they came back normal. We were under the illusion at this point that James was just small and unwell and he would get better. Eventually after 3 weeks in hospital we were able to take him home.

Life Was Exhausting

James struggled, he could not suck and so breast feeding was never successful. We had numerous follow up appointments at the hospital and the health visitor could almost have moved into our house as she was there so often. My days when Darryl was at work were filled with feeding James, taking an hour to get an ounce of milk down him for him to bring it all back up. He constantly lost weight. The health visitor would come and weigh him and I’d be distraught. Darryl was working and then coming home and supporting me with feeds through the night. 

At one of James’ many hospital appointments it was discovered he had a hole in his heart. At 13 months old and still weighing only 11lbs 4oz lbs (5.1kg) he underwent open heart surgery. A year later, still unable to keep food down due to his severe reflux he underwent an operation called Nissens Fundoplication. This involves wrapping part of the stomach around the oesophagus. He also had a peg inserted at the same time. Before that I had learnt how to put nasal tubes down to supplement James’ feeding but he would pull them out on a regular basis. 

Hospital Admissions

James regularly ended up in hospital because he failed to thrive. A few months after his heart surgery James also started to have seizures too so again, we were in hospital fairly often.

Throughout this time we had become involved with a much kinder geneticist. We had regular conversations. She would ring and say we are going to test for this or that or I’d read about a syndrome and ring her and ask if they had considered it.

Genetics had moved on at a fast pace. James had another test called FISH, Fluorescence in Situ Hybridization. This test could detect minute chromosomal deletions that may not have been picked up before. It did in fact find a small deletion on the short arm of chromosome 4. We finally had a diagnosis. 

Food Has Been An Issue

As the years have passed there have been many challenges around James’ eating. Despite this, he has grown into the relatively strong and robust young man he is today. Largely this has to be attributed to having his gastrostomy. He is small, his size is defined by his syndrome but he is all in proportion. James’ seizures stopped by the time he was around 7 yrs old. He has only had one since which came as quite a shock a couple of years ago. On this occasion we think it was triggered by some medication he was on at the time, but we are aware his seizures could return. His peg was changed for a gastrostomy button and he still has supplementary feeds to maintain his weight as he is never still and cannot consume enough calories to sustain himself (not a problem I have personally!!).   

Challenging Behaviour

James also has a diagnosis of Autism and there are many triggers that will bring on a outburst of crying and shouting. Certain noises, not being able to ‘wait’ etc. His behaviours are challenging at times. He likes routine. I’d like to say he is mostly happy but unfortunately that’s not always the case. There are good and not so good days.

James is largely non-verbal, he can say muma, car and bye bye. When he was younger, he had a few other words but he lost those. He communicates using some Makaton, some of his own signs, some symbols and objects of reference. He likes the music on the radio so he will give you the remote control to ask for this. I’m sure his difficulty communicating is a cause of frustration to him at times but he tends to be able to let us know how he is feeling.

Could I ever have imagined when he was at his tiniest, most poorly and vulnerable that he would grow into the young man he is today. No, I couldn’t. But here he is and I couldn’t be more proud of him.