Are Doctors Advising That We Shouldn’t Have Another Child?

Our son as you know has XQ28 Duplicated Syndrome which is a rare chromosomal abnormality. At birth, our son was in Neo-natal for his low birth weight, temperature and sugars. During his time in neo-natal, they noticed that his head conference was small. Cut a long story short, this led to the diagnosis of his XQ28 Duplicated Syndrome. 

Since then, we have had a meeting every year with a genetic specialist which supposedly is someone for parents to talk to and feel comfortable sharing their experiences and feelings with.

As mentioned in my last blog, in our first meeting we were told that our son will never be able to sit, crawl, walk and talk. Our son proved doctors wrong and has overcome every milestone to date. We have had quite a few obstacles along the way but that’s what makes our life so interesting! Apart from that we have a happy and healthy growing 3 year old.

Our previous appointment, which was a few months ago, was what really left us speechless. I had so many amazing things to tell the specialist about how much he has already achieved but the specialist didn’t show any sort of interest. He didn’t look at him. He didn’t play with him. He didn’t even ask how he was doing.

The first thing the specialist said was:

“I gather you don’t want another child like Joshua, so I suggest you have no more children. If you do fall pregnant, I will make sure you are able to have an abortion immediately.”

I remember just staring for about 10 minutes in pure devastation at what just come out of his mouth. Not only had our son been rejected from a childminder for having ‘too much challenging needs’ but our own specialist was not even accepting.

Firstly, what exactly does he mean ‘Like Joshua’? If he is referring to the XQ28 then that is just a small part of what he is about. It doesn’t define who he is. His personality is so much more than that. He is loving, compassionate and hilarious. We get the privilege to see these special traits every single day!

I only had one thing to say to that specialist and that was:

“I wish I could tell you it was nice to meet you, but I would be lying. No need to book another appointment in because we won’t be seeing you again. You should be ashamed of yourself”.

I decided from that moment, that we most certainly do not need any appointments that are going to judge our son on what he can and can’t do. We are going to celebrate all the things he can do and nothing else matters. Our society needs to start understanding that every child is different that’s what makes us unique. Wouldn’t it be boring if all of us were the same?

I have been deliberating for weeks now about posting this because I didn’t know whether I felt embarrassed or ashamed. The truth is, I actually feel proud. I feel proud that our son is unique. And I most certainly would be delighted if I had another child like him. Perfect is a very strong word. And that’s exactly the word I am going to use. Our son is perfect. 

XQ28 Duplicated Syndrome: Our Story

When the neo-natal unit took our babies bloods before he left the ward, we thought nothing of it. We were just so excited to finally bring our little boy home with us and start our new life together as a family of three.

At 7 weeks old, just a few days later from his bronchiolitis recovery, we received a phone call from a genetic specialist trying to arrange an appointment to see us. We tried to carry on but the appointment was always at the back of our minds. We knew our son had his bloods taken, so we did not know what might possibly show up. We thought maybe they just want to review our son after his recent discharge from hospital. You always find yourself thinking about the worst case scenario though. But we just didn’t know what could be wrong. We spent the days leading up to the appointment thinking the worst. It just felt like one thing after another. Hasn’t he been through enough in his little life already?

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At the appointment, the genetic specialist told us that we needed to listen very carefully as it is all a lot to take in.

The genetic specialist explained that our son’s blood tests were sent off for genetic testing for a suspected chromosomal abnormality because of his small head circumference. The results found that he has a rare chromosomal abnormality called Chromosome XQ28 Duplicated Syndrome. We had no idea what he was talking about. It felt like he was just throwing letters and numbers at us. It was the most daunting experience of our lives. He told us that it is extremely rare and there is no cure or medication. All they could do for us is offer support and yearly observations to watch Joshua’s development.

As if we hadn’t already been told enough bad news, the genetic specialist told us that it is likely that he will never be able to sit, crawl, walk or talk. He suggested that we prepared ourselves for the worse. One specialist even told us that the life expectancy for Chromosomal XQ28 Duplicated Syndrome is 12 years old. Our hearts shattered into a thousand pieces and we did not understand how life could be so cruel to our Joshua.

The genetic specialist told us that Chromosome XQ28 Duplicated Syndrome affects mainly men as it is the X chromosome affected. The reasons for this is because females have two X chromosomes so the non-faulty X chromosome takes control. Therefore, females usually become just a carrier. As males only have one X chromosome, boys will usually be effected.

Our son currently has asthma, absent seizures, irregular fits, traits of ASD and Autism.

Our son has overcome many milestones that specialist told us he would never.

We were over the moon when he turned over for the first time at just 5 months old…

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He continuously amazes us every day and at 7 months old, he even sat up for the first time…

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He crawled for the first time at 10 months old whilst following his daddy into the bedroom. We couldn’t believe it…

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Tears strolled down our eyes when he walked for the first time at 15 month old…

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We still don’t know what his diagnosis is fully going to mean for his future, but we do know that our son is the most sensitive, caring, compassionate and loving little boy in the world. He could not be more perfect in our eyes. I can guarantee that we are going to have many more obstacles thrown in our way. But we are ready to face them as a family when the time comes.