Tag: genetics

Why We Went On To Have Two More Children After Having A Child With Special Needs

A friend asked me this weekend why we decided to have three children? There was no sarcasm or malice in the question. Just simply wondering and genuinely interested. He knows that Freddie has Additional Needs and wondered how we cope?

Sometimes ignorance is bliss.

When we found out at my 20 week scan that Freddie’s brain wasn’t developing correctly and after all the scans and tests that followed until his pre-term birth, our focus was just getting him here safely. We had no diagnosis, didn’t have a clue what the future would hold and had never really thought about anything genetic. However, we had always wanted two children and I think that because we could ‘hide’ Freddie’s needs when he was a baby and pretend to ourselves that he was going to be ok, we decided to go for it pretty quickly. Living in denial was probably quite blissful at the time. I became pregnant with Bella when he was only nine months old. Perhaps if we had left it longer, we might have made different decisions? I don’t know. It was around this time that the hundreds of appointments and therapy sessions really kicked in. I was one exhausted pregnant lady. We got through it though and were so excited to have our beautiful little girl.

When Bella was around three months old, we were invited to attend genetics counselling. When I look back, we were so naive and innocent and actually right in the centre of total chaos. The Dr asked how our new baby was, did we think she was developing typically and did she have any dysmorphic features? Time just stood still. I can recall every prickle of fear as if I were in the room now. We honestly never considered for a moment that Freddie’s needs could be hereditary and we also didn’t know there was such as thing as De Novo Genetic changes that occur. No-one had ever spoken of this other than the more well known syndromes they tested for regularly. What a shock that was.

We went onto the DDD study and waited.

During this time, I never threw away any of their baby things. Hoarded everything. We were only having two so what was I thinking? I called the geneticist a number of times hoping the results would be round the corner. Nothing. Our main concern was finding an answer to enable us to give Bella all the information she would need for when her time comes to be a mum. If that is the path she chooses. We also wanted (and didn’t want) to know if Freddie’s condition was life limiting.

As Bella was approaching 18 moths, I realised she needed back up. I don’t have any brothers or sisters and as I’ve experienced more of life’s riches and heartbreaks, it would have been good to have that back up. So grateful I have Ollie.

We needed safety in numbers.

I didn’t  want Bella to feel pressure when she is older, perhaps when Ollie and I are no longer here. It’s tough managing these challenges alone.  Although risky, without a diagnosis, we weighed up all the options and all the solutions open to us. After a lot of discussion, we decided to go ahead and try for a third baby. Freddie’s rare diagnosis of TUBA 1A came after Jago was born.

I’m not really sure how Jago will take it if he realises he was back up? I’m hoping he will know he was born from a deep place of love for our whole family unit. He has made us complete and we adore every inch of him as we do Bella and Freddie. We are extremely lucky to have three children. I hope they remain close as they grow, lean into each other and realise they now have safety in numbers.

Being Undiagnosed. Was it my fault?

For what seems like forever, we have lived in limbo.

Freddie is my first child and during my pregnancy, which should have been exciting and restful, we found out at my 20 week scan that his brain wasn’t developing typically. To say we were devastated is an understatement. This marked the first day of limbo and uncertainty.  We had a foetal scan every other week at the city hospital, Microarray, amniocentesis, bloods and goodness knows what else. Everything came back negative but each week the scans showed more and more problems for our sweet baby. The doctors said at this stage they could only really tell us what it wasn’t and not what it was. We didn’t know you could have a disability without a name, something undiagnosed. But then, why would we?

We met with a Paediatric Neurologist who answered as many of our questions as he could but again he didn’t really have any answers, just that our baby would potentially have developmental difficulties of a mild to moderate nature. Although heartbroken and frightened, we decided to take the word ‘mild’ and run with it because the alternative was too awful. The consultants had on occasion offered us a termination but what shocked us most was that they could offer it, by panel, up to 39 weeks gestation.

Freddie was born at 35 weeks and he was so small. In fact, last week whilst my husband was clearing out some of the children’s old clothes he came across a tiny hand knitted cardigan which had been given to us by SCBU where we spent a week after his birth. All the tiny clothes we had bought were still too big. On this particular morning, I was feeling really happy and rushing to get the children out of the door but this totally floored me and floods of tears ensued.  All the memories of those early days and all my feelings of love and pride for how far he has come but how painful the process has been and the courage we have had to find was all wrapped up in this tiny cardigan. (Really must invest in some waterproof mascara). Once I’d sorted myself out, I took a minute and tried to focus on the positives of his progress and the progress of our family unit. I’m acutely aware it could have so easily broken down but so far so good. We have worked hard on our marriage and our family and we do of course have three children now which is wonderful.

The one thing that never went away though, was the feeling of blame which I have carried around with me for a long time. Was it the the bottle of Prosecco I drank the night before I realised I was pregnant? Was it the massage I had or the products I used or was it the flu jab I naively had in early pregnancy, without really knowing the implications? It’s been difficult not to dwell on it. We did receive a diagnosis from the DDD study https://www.ddduk.org earlier this year which has taken some of the pressure off but so far, Freddie is one of only 5 known in the UK with the same gene variant. So you could say we are still Undiagnosed to a degree, as the European Union states that a rare disease is defined by one that affects less than 5 in 10,000 of the general population. Other than having the cause of his difficulties and knowing it is De Novo in him and not hereditary, we don’t have much else and no prognosis. Even with the diagnosis, I still wonder if Epigenetics was at play? Im quite sure no medical professional is ever going to discuss this with me seriously but you can’t help having a gut feeling about something. Parenthood is filled with opportunities to feel guilt so for all you parents out there walking a similar path, I hear you. I am now in a place where I practice focussing on the here and now and the future and not the whys and hows because I know nothing will change by knowing. Its the only way forward to having peace. I do occasionally revisit Dr Google and the Epigenitics question that hangs over me but mostly it is now a story running in the background of my mind. If you can get to the point where it is quiet dialogue whispering in the background and not shouting at you, then you can claim some peace and let go of the guilt which shouldn’t really be there.

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