# 20 The waiting, more waiting and DIAGNOSIS

The waiting I always find is the worst part. We’ve gone through so much and yet the worst is still yet to come. When you get told results take 10-14 days, maybe up to 3 weeks, we’ve now learnt to expect the longest. 10 days came and went. Our son, ‘yes son’, our beautiful boy is wriggling and moving more every day and the attachment I’ve grown with someone I’ve never met is literally the hardest part of this journey. I love him. He makes me smile every day and I’m so proud that he’s fought so hard to meet the lady that keeps feeding him cheese, pickles and cake. When I was struggling to get my head around our future, we were put in contact with a hospice in Liverpool. We made an appointment to go there for the next day and it put a lot of what is to come in perspective and even though it was hard to come to terms with, we knew that this would be of massive help to have their support at any future hospital appointments and have a place that we can visit our son before his cremation and stay there if we so wish. At that meeting, we were informed they’d heard from the fetal medicine unit and that the results would still be over a week away. We had not been informed of this and it drove me insane, the lack of communication to parents to be, waiting in torture for any news, (let me remind you now, when you are waiting for news that can completely change the outcome of your future, every hour seriously and honestly feels like a day!) but we were not contacted! Even if it was a phone call to say, “the cells are slow growing again”, that would have been better than the waiting thinking ‘today could be the day‘. With the wait of over another week ahead of us and a bit more of an understanding of the future ahead of us, we made the decision to put our house on the market. It’s been a tough year, we made the move from Devon to Cheshire, but with COVID, we have struggled and now within 6 months I’ve lost 2 jobs, one to covid and the most recent for needing time off. The house sold within 3 weeks.

During this wait, Mother’s Day came. I haven’t even got the words to fully explain the pure and utter physical and emotional pain. It isn’t even a heartache, it's utterly excruciating. My mum was my best friend. I’ve always struggled with her passing. This year though, knowing I have a baby I’ve dreamed of for so long inside of me and his future is doomed, made me feel like the worst person in the world. I wanted this baby so bad, 4 rounds of fertility treatment had finally given me my miracle, but this miracle should not have been, we’ve created a baby with so many complications and health problems, I feel it’s all my fault. I wanted him.Nature wouldn’t have created him and he would never feel suffering or be killed if it wasn’t for me wanting to be a mum. Now whilst everyone was celebrating Mother’s Day, I don’t have my mum and I’m unlikely to be a mum. I turned my phone off for the whole entire day. Let me tell you people can be inconsiderate anyway, close friends and family know what we are going through, but still post their babies daily. People's lives move on.They are not living our life. A big deal in someone’s life right now is what colour they’ve painted a room. WE all have important things going on in our lives! I’ve learned that I’m not sensitive, I’ve been called that a lot in my life, no, I love deeply and I hurt deeply, I think far too much. I have a big heart and it hurts. People are obviously going to announce pregnancies, and why shouldn’t they!?! But I sit here with bags under my eyes, tears falling down my face and my sick baby inside of me and I ask myself “why can’t that be me”. We’ve gone through so much to get here. “Why me, why do I lose everyone I love”. I’m not lying when I say I’m filled with HATRED. I know that’s a strong word, but there is no rational thinking. It’s a lonely world right now. A doctor recently asked me if I want to harm myself, no! No I don’t. But I wish I was dead.

The phone call finally came, on Tuesday 16th March, Liverpool hospital phoned to ask us if we were available for a zoom call. This is to have the genetic consultant and genetic counsellor from Manchester, our support from the children’s hospice and our consultant from Liverpool. My heart sank. This was a big deal. It’s bad news.

Thursday 18th, exhausted (I didn’t sleep a wink the night before) we sat waiting for our call at 11am. With the typical technical problems with video calls we couldn’t get our consultant from Liverpool for the whole call, but after 5 minutes of faffing, the genetics consultant got straight to the point. “It’s not good news. Your baby has a mutation to its chromosome 10. KAT6B. Known as The Say-Barber-Biesecker-Young-Simpson (SBBYS)” My husband squeezed my hand so tight. It’s surreal to sit looking at a screen where you can see your broken faces staring back at you being told the news you had waited to hear for so very long. We were told on New Year’s Eve that our baby appeared to have a chromosome problem. 11 weeks to the very day later, we finally had a diagnosis. 11 weeks of growing a bond, 11 weeks of growing attached, 11 weeks of dreading this outcome. I can’t tell you how long it’s felt! I was now 6 months to the day pregnant.

FACTS

SBBYS is a variant of Ohdo syndrome. This is a very rare disorder, which can have multiple different problems. The reason that the name is so long is that it was originally felt to be multiple different disorders, but more recently, discovery of the gene causing it has shown that it is just one condition.Individuals with SBBYSS have very severe hypotonia (muscle weakness) and feeding difficulties after birth. They have severe developmental delay, with very severe speech delay – speech may never be attained - and severe learning difficulty. They have a characteristic ‘mask-like’ face, often with a short chin and sometimes with a cleft palate. Around 50% have a heart defect. Skeletal problems, particularly absence or dislocation of the patella and marked joint laxity are very common. Thyroid problems are frequently seen. Males commonly have genital anomalies, such as undescended testes and/or hypospadias. The KAT6B gene, as with all genes, exists as a pair. Someone with SBBYSS has a mutation in one copy of that pair of genes, the other copy being normal. In virtually all circumstances, the mutation is not present in either parent, but has occurred as a new event in the affected individual. This is called de novo. It is not at all unusual to have new mutations in a pregnancy, and is a result of an error during the production of the egg or sperm

So, we were offered termination at any point of the pregnancy again if we wish. Over the last few weeks, I have had multiple conversations daily with my husband. I have changed my mind almost daily of what is best for our son. When I started this 2 years ago, it was to discuss IVF, not termination. This is how messed up life is! Now with this diagnosis, it makes it all very real. Let’s just say, we can’t agree. Yet. We are visiting Liverpool once more for another scan to see how my precious little boy is doing. His chest the last time we looked was taken up by 50% of his heart. If things are still the same, We know what the right thing is. If he’s still fighting, that could make our decision and relationship much harder.

May I now just offer some advice from someone whose been on the receiving end...

Please don’t EVER say the sentence “you can always adopt” to someone who’s gone through IVF. I know you think you mean well, but if this is something someone really wanted to consider, they would not put themselves through the journey of IVF or fertility treatment and all that goes along with it! (Normally it comes from people who have naturally had their children!) We would not be desperate to feel our baby grow inside of us.

Now I feel him, I want him even more.