My son was born in August 2006. It was my first (and only) pregnancy and was uneventful. I was very excited to become a mum. Adam was born two weeks before his due date and it was a short labour. From the time he entered the world, and without realising it, we had already started taking steps on a journey we were unprepared for.
The midwife was quite surprised as Adam was very small (2.27kg). He didn’t latch on either. Immediately a medical professional was called in to check Adam over and lots of medical words/jargon were used that I did not understand. Adam was wheeled off to SCBU (special care baby unit) to be checked over and I was taken down to theatre. We ended up staying in hospital for a week and during that time I had to take him off to different areas for tests, and get into a routine for feeding. It was found Adam had a tongue-tie, and along with a small mouth caused problems with latching – so I had to express instead. It was a very scary time, and emotional as it was hard to fathom everything that was happening.
Finally, we could go home with Adam feeding from a bottle (expressed breastmilk). It was at around eight or nine weeks of age that we met the geneticist and the fact we had an appointment told me something wasn’t right. I still even now remember the day and meeting. The geneticist explained how chromosomes worked and how Adam had both a deletion and a duplication involving chromosomes 1 and 5. It was all a lot to take on board, and again a lot of medical words that I really didn’t understand. The geneticist had researched terminal deletions on chromosome 1 to try and give us some information. We were also given a leaflet about an organisation called Unique. A few years later I joined Unique and by then they had produced a guide on 1q4 deletions which was helpful.
It was a very scary time and emotionally very hard – I felt like my life as I knew it had changed dramatically. What did all this mean? How would it affect him? What would it mean for his future? You couldn’t help but question so many things, and with his deletion/duplication being rare we really couldn’t be given specific information on how it might be for him. A few years later I asked about getting a clearer idea of his deletion/duplication (at the first diagnosis we got given an either/or) as testing had got better. It was confirmed as a 1q44 deletion along with a 5q34q35 duplication. I also got information on the size of both the deletion/duplication and where the breakpoints were.
At around three months of age, Adam started getting eczema. We also then had testing to find he had many allergies – both food and environmental. By the end of the year he was covered head to toe with severe eczema and that had such an impact on him and us. I was exhausted and thought there was no end in sight. During that time, we had constant doctor appointments, hospital appointments, therapists visiting home. It became noticeable over time that Adam was significantly delayed in a lot of areas. It was quite difficult to be around others with children of the same age who were meeting their milestones and Adam wasn’t. I used to shed a lot of tears because of it.
At around 18 months of age, Adam started attending an early intervention centre (WEIT) and it was a godsend. The centre provided speech therapy, early intervention, physio therapy and music therapy. It was also great for me as it allowed me to build up friendships/networks with other parents of children with additional needs. Adam during this time also spent a few hours a week at a local kindergarten with an education support worker to assist him. Adam crawled a lot later, and took his first steps at around the age of two. He said his first word ‘more’ (and signed using Makaton) at age three - a few days before Christmas Day!
At age five, he received high ORS funding and went to a mainstream primary school. Here he had teacher aide support for a few hours each day during the week. Adam enjoyed school, and it was great to see him interact with others, and give things a go. All the way through he had lovely teachers, teacher aides and his classroom peers always looked out for him. He certainly left his mark and I believe helped others to learn more about those who are a different kind of perfect.
Fast forward and Adam is now 11 years old – soon to be 12. He has had three surgeries over the years – inguinal surgery, grommets, squint (both eyes) surgery. He wears glasses and is still small for his age. Short stature is common for his deletion. He still has difficulty with speech but is saying a lot more words now. He has a communication device (iPad with TouchChat) to help him. He has some fine/gross motor difficulties, a lot of sensory issues (which also includes around food) and needs a lot of help around self-care amongst other things. Thankfully, his eczema has been under control for the last few years though he does get hayfever and mild asthma. Last year he was also diagnosed with a moderate intellectual disability – I was expecting to get ID and despite another label, it means it may open more doors for different supports and identify areas where he needs help.
This year Adam started at Kimi Ora school – which is a school for special needs. They opened two satellite classrooms at Pomare School and Adam is based there. It took Adam a wee while to adjust in the first term as it was a new place, and new people. But already he is making his mark and new friends, and this term he is really enjoying it. The great thing about this school is that Adam will get help in all the areas he needs (including speech, occupational therapy, music) and life skills. It feels good to know he will get all the help he needs to be as independent as he can be when he is older.
Certainly, my world has changed a lot since having Adam. He has opened my eyes to a whole different playground – one that I admittedly didn’t know a lot about. It has been an emotional and challenging journey to date, but it has also been equally rewarding and enriching. I am doing things I never thought I would be doing. Linking up with people all around the world because of this rare chromosome disorder. Facebook has been a godsend – a social media platform that has allowed us to be connected all over the world. We have a 1q4 family around the world where we share all our highs/lows, but also importantly information we can take back to the medical professionals involved in our lives. ‘Inchstones’ are celebrated... because they are so amazing when they are reached! I have also volunteered as a local contact for the Unique organisation (UK based who provide information/support etc worldwide for rare genetic disorders). I want to help others – especially when first starting their journey; it is very scary and at times difficult trying to navigate the systems/support out there. I want to pass on everything we have learnt on the way. My Mum has also been my rock and is there to help both myself and Adam when needed.
Adam loves life – he loves many things like music, Mickey Mouse, school, numbers, bus rides, lawnmowers, lifts, vacuum cleaners, swimming, Sailability, Riding for Disabled. He gives the best hugs! He is like an energiser bunny that keeps going and going – he has a quiet determination that I admire. I love his perspective on the world, his non-judgment and his cheeky grin. When he achieves something no matter how small it is, it is huge for us. I just love this wee man to pieces.
I want Adam to experience life - to try many things. Sometimes to do that we must think outside the square and find a way to do it. We will continue to navigate this journey we are on – it is not easy. At times very hard, but we will give it our very best.