November is 22q11 Deletion Syndrome awareness month. Also known as DiGeorge syndrome, this syndrome is one of the most common reasons for cardiac problems in babies.

The condition is rare and before having daughter Sophia, heart mum Charlotte had never heard of the condition.

We reached out to Charlotte to ask whether she would help us to raise some more awareness of 22q11…

When Sophia was born it became obvious that something wasn’t right, and it was quickly identified she had a complicated cardiac problem.

 

At four days old, Sophia underwent open heart surgery. Whilst in surgery they noticed Sophia also had a missing thymus. This, along with the cardiac problems, prompted them to carry out tests for DiGeorge syndrome.

 

A couple of weeks later, I was taken into a room to be told she had the syndrome. The key takeaway would be NOT to Google it and to contact CHSF and Max Appeal to understand more…but as I had never heard of it before, I made the huge mistake of searching the web.

 

The information I found terrified me! I have since found that they were correct with the advice not to Google. With the condition being classed as ‘rare’ (although it is the second most common chromosome disorder after Down syndrome) the internet is not up to date or accurate and, as far as I can see, provides only absolute worst case scenario information.

 

Sophia hasn’t had it easy at all, but she continues to amaze everyone every day! Especially me – I am one super proud Mummy!

The condition is a huge spectrum and can have up to 180 variants of things that people with the syndrome may or may not have wrong with them. Examples of things which I have heard are common are: cardiac defects; cleft palette; learning and developmental delays; autism; hyper mobility; immune problems…plus many more.

 

So far, along with being cardiac, Sophia is delayed reaching some milestones, but she always gets there, in true Sophia style!

 

She’s 2 1/2 years old now and is non-verbal at the moment but she’s doing great with Makaton. A few words have started to come, such as “mummy”, “more” and “yes”. I have no doubt there will be no stopping her talking soon enough!

 

Her immune system is on the low side of normal, so she does pick up a lot of bugs but she’s a fighter! She also has a feeding tube, but we are getting there with transitioning to oral feeding and drinking.

Sophia has a world of support around her. She sees A LOT of medical specialists, which I feel we have been super lucky to get, and we attend loads of appointments. But this means Sophia is getting the best care in the world and that’s all that matters!

 

She has recently been approved an EHCP (Education, Health and Care Plan) which will massively help throughout her education. As she recently started pre-school (which she LOVES) this will help give her the best start ever!

 

I don’t think there are too many medical specialists around here who have an in-depth understanding of DiGeorge as I often have to explain the syndrome to people that we see. I think it would be amazing if there was a local DiGeorge clinic as there is in London. I would love to be able to regularly see someone who can help us on our journey with DiGeorge.

 

The Max Appeal charity is the best source of information for the syndrome and has been absolutely invaluable to our family so far. We are part of their Facebook community which means families can discuss our children together and get advice and support.

 

We have also met up with and made friends with many other families who have children with DiGeorge in the local area (it is a lot more common than you would realise). Seeing how amazing all the other children are doing fills me with so much hope for Sophia’s future.

 

This group, along with the Children’s Heart Surgery Fund Facebook community means we have constant support, and always someone we can go to!

This has just been a little information from my perspective as a mummy of a 22q deletion warrior! I wouldn’t change her for the world (although I’d make her journey a little easier if I could).

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