Patient Stories - Robin

“We will be forever grateful he chose us to be his Mummy and Daddy.”

I’m Emma, Robin’s mummy. Being his mum is something I feel like I’ve dreamed of forever, but our experience was far from the dream we imagined. Before having Robin, I worked as a teacher to children in their early years of education. A job I loved. I was following in my Nanny Rita’s footsteps and I knew (perhaps too much) about children, their development milestones and how I could have a positive impact on those all-important early years in school. I have worked in a few schools but in 2019 we made the move from the Midlands to Bedford for Ben’s job – it felt right at the time and what happened next meant we had the support we needed. It took some time (and many tears) to get it but now, we are right where we’re supposed to be.

In October 2021, after the most beautiful pregnancy, I started maternity leave and I couldn’t wait to meet our baby boy – I had imagined what he looked like whilst patiently waiting for his arrival. When he did arrive on 29 October 2021 we couldn’t have been happier. My labour was long, painful and something I will never forget but the gift of meeting Robin for the first time was like nothing I’d experienced before.

Early moments

Those early moments were precious but I quickly felt like something wasn’t right. I couldn’t put my finger on it but I just knew. During my labour, Robin’s heart rate rapidly increased and decreased causing concern; he was born with emergency intervention which was very scary and needed some help to take his first breath. Those seconds felt like a lifetime. Shortly after his birth we were told he potentially had multiple holes in his heart and we began to understand more about his oblique talus (a type of clubfoot). His perfect (to me) little feet were facing upwards towards his face. Robin was then suspected to have an infection and was given antibiotics through the tiniest cannula I’ve ever seen. At around six hours old we were told that the doctors were concerned that Robin had ‘dysmorphic features’ a term I’ve learnt to hate. He was exactly who I expected him to be and for Ben and I, it was hard to really see what they meant. I was in shock; I needed explanations. We were told that Robin may have a genetic condition due to his low ears, slightly wide eyes and little creases underneath, along with the heart murmur, talipes and later discovered 95% tongue tie. After a hard labour, staring down at my baby, there was a constant stream of professionals delivering blow after blow. More difficult to understand news and medical jargon. It was heartbreaking.

What came next was over 11 weeks of torture for our little family. We were discharged after eight days and it felt like we were heading into the unknown to see how we would cope. Robin had terrible reflux, a poor latch and we were desperately trying to feed him around the clock to help him thrive. I was back and forth to the GP as I was concerned Robin wasn’t feeding well; after multiple visits, reviews and several trips to the hospital from episodes where Robin had turned blue and floppy from choking, we discovered Robin had an airways condition called llaryngomalacia. His larynx was obstructing his airways and he was at serious risk of harm. He was finally given an NG tube to help him feed and it was such a relief to know that we were going to be able to feed our baby .

In the those first few months , friends and family were texting and dropping by reminding me to ‘enjoy the baby bubble’ but to me my bubble was burst. I didn’t know what was happening, I was a new mum with a baby I didn’t understand, and I felt alone. It was difficult to keep friends in the loop with the complexities we were facing with Robin as there was so much happening so quickly. We had no idea if there would ever be any answers and I truly thought it was me not coping as a Mum. My mental health suffered terribly and I’m so grateful for my Dad and sister who were on the phone whenever I needed them and believed me every time I told them I felt something was being missed.

During a review at our family doctors, something snapped in me and I realised that if I was ever going to be listened too, I needed to be brave and be Robin’s voice. I spoke to our GP about further concerns I had for Robin. I felt like I was being neurotic, but she listened and we talked about how I felt. By this time, he was already 13 weeks, he hadn’t smiled yet and I just felt like he was just ‘existing’. She validated my concerns and we were quickly referred to the hospital for an MRI to try and get some answers. His MRI showed he had hydrocephalus, which is additional fluid around the brain. Robin’s care was then transferred to Addenbrookes where neurology, genetics, ENT, respiratory and gastro consultants all worked together to help our little boy. We stayed in Addenbrookes for 29 long days, Robin had surgery on his larynx and Whole Genome sequencing was carried out to test for genetic differences.

Diagnosis

Robin was diagnosed with Coffin-Siris syndrome, discovered from the findings that he has a duplication of the SMARCA4 gene. I received the news over the telephone (we’d moved house and the letter was delayed so it was a surprise phone call). I will never forget that life altering phone call; the juxtaposition of feeling both distraught and relieved at the same time. Once I’d spoken to the consultant I continued to go and meet my friends for coffee and tired to carry on as normal. I began to think of all the questions I should have asked the geneticist, and once I got home my mind was in overdrive. Our lives had just changed forever. It was a bleak and scary thought. What followed were some difficult google searches (I don’t recommend that) and the difficult task of sharing the news with family and close friends. Those days were difficult, but we finally had answers and the support of specialist consultants, doctors and nurses. Robins condition means he will potentially have more medical complications and our journey is bound to be a long and at times difficult one.

The word hospice is scary

Our community nurse referred us to Keech Hospice Care in June 2021. Sadly, I know so many people don’t really understand what hospice’s offer families like mine. The word hospice is scary, but it doesn’t mean you’re dying. I lost my mum after a long illness in 2020 and she accessed hospice care throughout her journey so I understand that engaging with your local hospice early on in your diagnosis they can help you live well for as long as possible. Robin and I have immersed ourselves in Keech – the care, advice and support we get when we need it is so important, to both of us. We have access to doctors and nurses who know really understand us, that know Robin and are ready to answer our questions or concerns. That’s so valuable. My mum always talked about ‘the wheels falling off the wagon’ and that ‘we need to learn to put them back on’. My wheels felt like square ones until we accessed Keech. I’ve made some lifelong friends with other people who ‘get me’ and we can have those difficult and uncomfortable conversations together. Friends like this have allowed my voice to be strong and loud for Robin. We join the weekly play sessions where Robin is often front and centre with his friends. We’ve enjoyed the safety (and warmth) of the hydrotherapy pool and I know that when I’m ready to talk some more, I can access some of the speaking therapies available to me.

Robin is now a thriving, happy and content 24 month old. He is our miracle boy, who is defying all of the odds that we’re stacked against him both in those early days and from a rare diagnosis. He is our whole world and the definition of bravery. We could not be prouder of him. Although his diagnosis turned our worlds upside down, it has enabled us to access the support we so desperately needed as a family.

I can call on the team at Keech when I need some reassurance and they are always there. The connections we’ve made and the friends we’ve chosen will stay with me forever. Thank you Keech. The future can be a scary place to look to, but as a family, we’re so grateful that Keech will be there for us however we may need them. Robin is my reason for getting up in the morning. Sometimes life for us is hard. But, it’s also so beautiful. Life is precious and so is our time with Robin. We will be forever grateful he chose us to be his Mummy and Daddy.