Chromosome XQ28 Duplicated Syndrome: The story of our perfect little boy.

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. It was amazing bringing our Joshua home. He has always been a good sleeper and his cuddles are the best!

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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 Joshua. We tried to carry on but the appointment was always at the back of our minds. We knew Joshua had his bloods taken, so we did not know what might possibly show up. You always find yourself thinking about the worst case scenario. 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. Joshua sat on our knees. We did this as a family. Like everything else. We all needed each other.

The genetic specialist explained that Joshua’s blood tests were sent off for genetic testing for a suspected chromosomal abnormality because of his small head circumference. The results found that Joshua 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 Joshua 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. For a male it is different. As males only have one X chromosome, research so far has suggested that a boy will definitely be affected. Having said that we have recently found out that I carried the faulty chromosome and it was my dad that actually passed the faulty X chromosome to myself. The main health issues my dad has struggled with in his life have been asthma, skin conditions and allergies. Joshua uses an inhaler as he regularly wheezes, suffers with eczema and is allergic to cow’s milk. Joshua also suffers with absent seizures and irregular fits. There are many similarities between their health issues but nothing extreme that can’t be dealt with using medication or treatment.

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Joshua has already been so strong in his little life and he continues to make us proud every single day. It may have taken Joshua slightly longer than other babies but he has always met his milestones in the end…

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

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

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Joshua 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 15 month old Joshua walked for the first time. His timing could not have been more perfect! Watching Joshua walk from one chair to another chair in the hospital in front of poorly nanny was the most memorable experience which I will never forget…

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We still don’t know what Joshua’s 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 at us that we will need to face. But, it is nothing that we can’t deal with. As a family.

Joshua proves doctor’s wrong day in and day out. He learns something new everyday. As a family we now appreciate just the tiniest of things. Everything Joshua does, we are so proud of.

Joshua is our world. Our little miracle.

 

All my love as always,

Sophie xx

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40 thoughts on “Chromosome XQ28 Duplicated Syndrome: The story of our perfect little boy.

  1. This is incredible. Joshua is a blessed little boy to have such a loving family, your photos are absolutely beautiful. xxx

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  2. This is such a fabulous example that experts can make their best predictions but they can be oh so incorrect. I’m so happy for all of you. Joshua seems like a little rebel. Haha. Not doing what medical science expected but doing what he himself expected. Go Joshua. It might have something to do with his parents positive outlook. 🤗

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  3. What a difficult and scary time that must have been getting his diagnosis. I’m so pleased that Joshua is defying your doctors! Thats awesome and I will follow his story with interest and care.
    PS hello Sophie, I’m also Sophie and I’m also a teacher of SEN in a mainstream school! 🙂

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    1. Hello Sophie, lovely to meet you- such a rewarding career choice isn’t it!! Thank you, he is so brave and continuously makes us prouder every day. Thank you for commenting and I look forward to reading your posts, from what I have seen they are just as interesting. Look forward to hearing more from you! X

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  4. Joshua couldn’t be cuter if he tried! What a fantastic smile! Thank you for sharing his story and his triumphs (so far) with us. His story reminds me of when my grandmother’s doctor delivered my mother. He tossed her on the bottom of the bed and told my grandmother that she would not live. Three years later my grandmother was walking with my mom in town and saw him. My grandmother was delighted to point out how wrong the doctor had been. And my mother lived to be 80 years old! I think Joshua may be like Mama and decide to show the doctors how wrong they are about him!

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  5. Aw, what lovely words. His smile is amazing. Thank you for sharing that beautiful story. Positivity and determined is so important. I am so glad for both your grandmother and mother for having such amazing strength. Definitely a story i will remember for a very long time.Thank you for commenting and I can’t wait to read your posts X

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  6. He’s doing such a great job! Way too go! I’ll be praying for great health for Joshua ! Wish you all the best! You have a forever reader here!

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  7. Thank you so much for sharing your precious baby with us! Blessings on all of you as you all work together with your perfect little boy! I pray your life will be filled with many amazing milestones!

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  8. His name is so befitting! What a miracle you have with you every second of everyday! I look forward to following you blog to see his high school graduation photos! 😀 Go Joshua!

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  9. Having parents like you, little Joshua will fine. He has already made great strides. Doctors are not always correct and little ones can grow out of predicted weaknesses. Thank you for following BrewNSpew.

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  10. My neighbor had a boy three months after my daughter was born. They said he would not live through the night. He had water on the brain and the doctors missed it. Only one-fourth of his brain developed and only one eye formed. He had a cleft lip and a cleft palate. Surgery fixed the last two items. Both he and my daughter will turn 30 this year. Doctor’s practice medicine. They don’t know everything. Your son will go as far as he wants. Never give up!

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  11. Hi Sophie, Teah here.. I am a family physician and I must admit I had never heard of the condition that Josh has. Wishing you and your family all the best and ask you to enjoy and cherish each milestone.. much love

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