Chromosome 2p Deletion and 10q Duplication

Rhegan-Sofia’s dad carries a balanced translocation between 2 and 10. We found this out whilst pregnant with her older brother Roman-Jay. Roman had a blood test the day after he was born and he doesn’t have or carry the translocation. 

My pregnancy was normal, we had a growth scan where they said her head was slightly smaller than average but they told us that it wasn’t anything to particularly worry about. But everything else was relatively normal and we delivered our beautiful Regain-Sofia on the 16th December 2017. After giving birth to Rhegan, I noticed her ears were quite low down. She also took a fair bit longer to open her eyes than her older brother did but other than that she wasn’t showing any major risks at this point.

The genetic team decided not to take Rhegan’s bloods as her oldest brother wasn’t affected when he was tested. We were allowed to take her home with us the following day because both I and Sofia were doing well.

At a couple of days old, during an appointment, they said she had positional talipes. Rhegan was given a few weeks of massages and this was soon corrected. Even now, she still turns her feet in at times. We first noticed her regularly sticking her tongue out at times as a newborn and that has never really stopped since.

Genetics have told us that her arms are slightly short. This was evident when we were always having to roll her t-shirt sleeves up and she has never been able to put her hands on the floor whilst sat up straight.

The first time the genetic team saw Rhegan was just at a few months old. She wasn’t behind in anything apart from the fact she couldn’t bare weight in her legs and she was slightly overweight. This wasn’t enough for them so they again decided not to take her bloods.

At 6 weeks she developed bronchiolitis. She hasn’t ever really been the same since if I’m honest. She’s been in hospital 3 times with her chest and is always in and out of the doctors being prescribed inhalers. She’s pretty much always chesty. We have currently learnt children with her changes commonly suffer from respiratory and chest infections. 

I knew for sure in my mind Rhegan had been affected by the translocation when she wasn’t meeting milestones, always had her tongue out and had started to cover her ears from sounds. She never liked her hair being touched or brushed, always had loads of hair, and has always got very frustrated easily. She’s never been one for crying but if she was frustrated she would scream LOUD. She’s always been disturbed in the night too she still wakes up more than twice a night. She took longer to smile and giggle. She’s even been overweight since she was a couple of months old.

Genetics saw Rhegan again at 10 months old. By this point, she was behind in a few of her milestones already. She couldn’t bare weight in her legs, she couldn’t pull herself up, couldn’t get in a crawling position let alone try and crawl or sit. They decided they didn’t want to see her for another 12-18 months after comparing her against other children with the similar genetic changes.

Rhegan couldn’t sit until 9 months old but was able to sit up steadily at 14 months old. Even now she can wobble over the odd time. She finally got into a crawling position 4 days before her 1st birthday and into a still crawling position at 15 months old.

However, I knew that something wasn’t quite right. We mentioned everything to our doctor. and the doctor told us that the ears, tongue and prominent forehead are linked to the genetic changes. We were pleased when she finally referred us to the paediatric team.  

We seen the paediatrican for the 1st time when Rhegan was 11 months old. She couldn’t believe that the test wasn’t done sooner and wanted genetic blood testing done immediately. She also put in for a hip x-ray, dietician, Physiotherapist, ear test and eye test. 

The hip x-ray results showed that one hip joint was smaller than the other. The eye test was normal but another check-up is required in nine months time. The ear test results showed slight loss so she was referred to a Ear, Nose and Throat clinic. The dietician was happy that her weight was starting to even out by the time we saw her. And her Physiotherapy journey has been every 4-6 weeks since January.

 We had the bloods done on the 22nd november 2018 and was told by a pediatrician on the 26th February 2019 that Sofia does in fact have an unbalanced translocation and duplication and deletion. 

We have recently seen the genetics team following Rhegan’s diagnosis. To be honest, finding out she has the unbalanced translocation resulting in a 2p Distal Deletion and 10q Duplication was a bit of a relief.

Since starting physiotherapy, we have already seen a lot of improvement in Rhegan’s physical movement. She is currently unable to stand aided for more than a few seconds so we cannot wait to get her a standing frame which will also help to support her bowels and chest.

Rhegan is a beautiful happy little girl and loves to laugh and giggle. She tries her hardest to do things and we will always support her the best we can! She loves sensory things, bath time and she loves cuddles and kisses too! She also loves if people blow raspberries on her and loves doing it herself. She’s a credit to us all and adored by so many.

We’ve since signed up to UNIQUE the charity for rare chromosome diorders. They have been truly amazing! And we have learnt so much already!

BY RHEGANS CHROMO JOURNEY

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