Nick and Sam live in Burgess Hill with their gorgeous three year old son Alex. Here Nick writes all about their journey with Down Syndrome so far…
This is Alex. Just after his 3rd birthday, we found out that he had Mosaic Downs Syndrome, which came as a bit of a shock. Rewind just over 3 years and like every other new parent, we were overjoyed when Alex came into the world. Both Sam and I are secondary teachers, and is customary with the profession, Sam’s maternity leave started all of 48 hours before Alex was born. Over the course of the following 2 years, we noticed that Alex’s development was a fair bit slower than his peers. He has two male cousins who are 12 and 5 months older than him but he was never close to hitting milestones at the same stage as them. After Alex started nursery, being surrounded by other children, it was suggested that we go to a speech and language drop in session who referred us to a paediatrician who recommended testing for DS (in her words, “just to rule it out”).
Initial blood tests ruled out DS but Alex was identified as having ‘Trisomony 5p’ which is a triplication on part of chromosome 5. Having not paid much attention at GCSE Biology, the inevitable Google search mechanism kicks in and both Sam and I spent hours searching for information about it but with little reward. However, after both Sam and I being tested, the same genetic anomaly was found in me and according to the doctor, I am ‘fairly’ normal(!), so back to square one we went. After a cheek swab test, Alex was finally diagnosed with Mosaic DS in November 2015 after nearly 13 months of tests. This means that only some of Alex’s cells have the extra chromosome 21. The proportion of cells with the extra chromosome varies throughout his body but it is impossible to know the distributions without doing biopsies of every type of cell.
It hit us out of the blue. For over 3 years, we had a ‘normal’ little boy, but now he was a little boy with DS. He had a label. What would this mean? It is still hard to put into words how we felt the first few weeks. Our little boy was still the same person that we had cuddled each day and bathed each night, but now there was a reason for the slower development. As, I assume with all parents of children who have DS, the inevitable worries start creeping in. What does the future hold? Will he be able to live independently? Will he have relationships? Will he hold down a job? How will this affect his life?
However, when logic kicks in, I remembered back to the previous 3 years and they were the same questions that I was asking before we had any diagnosis and even before we realised he was developing more slowly than other children. As parents, we have no idea what the answers to the questions are, but what we do know is that we would not change Alex for anything. It was strange, when we were with him, nothing had changed. He was still troublesome, mischievous, fun, loving and regularly threw a paddy when the TV was switched off. However, once he was in bed, the questions kept coming back about his future and it was tough to switch off the emotional part of the brain and listen to the logical part.
It was during one of the epic battles between emotion and logic that Sam found PSDS. As parents, we were in need of support from families in similar situations and for Alex, we wanted him to grow up knowing people with DS. We attended our first coffee morning in May 2016 and met so many nice parents and children that we knew we had found somewhere special. Although I only stayed for the first hour (unfortunately, cricket matches take up every Saturday during the summer), Sam and Alex had a great time meeting, chatting and playing with everyone.
With this new found support, I wanted to give something back to PSDS and raise some money. After a game of squash with my friend Jeremy at the beginning of June, I floated the idea of walking the 100-mile South Downs Way to raise some money. Within 2 weeks we had booked it in, started planning the route and had worked out training schedules to get ourselves into the right shape to take on the challenge.
The training did not go quite to plan. Life got in the way and before we knew it, the walk was two weeks away and we had done very little. I had done a bit in the Brecon Beacons with my students on DofE, but a lot of time was spent drinking tea on the side of a mountain while sheltering from the incessant Welsh rain and waiting for students to reach their checkpoints. Jeremy had done less. It was not a good start and we decided that we needed to make the best use of the final two weeks of preparation. I managed to get 3 long(ish) walks in, Jeremy got 4 but then we went to Morocco for a week on our family holiday. A week of G&T’s and lots of food by the pool is not the best preparation for 5 days of walking if you are ever in that situation.
The walk was a success, in the end. Plenty of blisters, aching muscles, sore knees and the ever increasing smell as the temperatures rose did not stop us from completing the 100-mile hike and raise nearly £4000 for PSDS (http://www.psds.info/news-events/114-south-downs-stroll-a-thon.html).
Alex was there at the finish line with Sam and the feeling of completing an endurance challenge was very quickly replaced with the pride of being a parent to a gorgeous little boy. He was smiling from ear-to-ear and gave me the biggest hug. Every day he makes us smile, laugh and pull our hair out (I didn’t have much to start with). He may have a diagnosis of Mosaic DS, but that is not what defines him. He is his own person. He has his own ideas. He can be whatever he wants to be. He can do whatever he wants to do in life. He will have the love, support and guidance of us unconditionally, for the rest of our lives.