Rare Chromosome Disorder Awareness Week 2nd to 8th June 2014

This is my cheeky little nephew, Elliott. He loves Minecraft. Well…he did the last time I saw him! He tends to love things, get really involved and then, you buy him something related to what he loves for his birthday, he invariably changes his mind when the date comes around! 

Elliott has a rare chromosome disorder. So rare that it doesn’t have a name just a series of numbers to define it (his karyotype).  Elliott’s karyotype is 46,XY, der(18)t(18;20)(p11.21;p11.2)mat whereas people with normal chromosomes will have a karyotype of 46, XY (male) or 46, XX (female).

Elliott’s type of disorder is known as an Unbalanced Translocation.  Elliott’s Unbalanced Translocation specifically affects Chromosomes 18 and 20, with some of chromosome 18 missing (deletion) and an extra bit of chromosome 20 (duplication).

The majority of chromosome disorders are de novo which means that they are not inherited.  Elliott’s RCD however,  is inherited as a result of my sister’s Balanced Translocation (this is what ‘mat’, short for maternal, means on his karyotype).   Generally speaking, Balanced Translocations don’t cause disabilities whereas Unbalanced Translocations do. 

I too have a Balanced Translocation. In a balanced translocation, pieces of chromosomes are rearranged but no genetic material is gained or lost in the cell. Here is an image to help you understand it better: balancedtranslocation

Unbalanced Translocation – An unbalanced translocation occurs when a child inherits a chromosome with extra or missing genetic material from a parent with a balanced translocation.

unbalancedtranslocation

My sister, Stephanie, had almost constant bleeding for the first 12 weeks of her pregnancy with Elliott and on most days for the first 3 months she didn’t think he would make it.  She had several scans during the early weeks, each one confirming Elliott was ok.  The rest of her pregnancy went fine and their baby boy arrived 2 weeks late on 29 June 2002 weighing 7lbs 11oz. 

A few hours after Elliott was born the paediatrician was concerned about the positioning of his left arm and requested an x-ray – but no problems were found.  When Elliott was examined the following day and my sister told the doctors he wasn’t feeding, they found he had a cleft palate, they also identified his pre-auricular pits and started looking for other signs of problems. He would need surgery at 6 months, audiology tests and a kidney scan.

Following his cleft palate operation, in November 2002, Elliott was referred for regular physiotherapy sessions and then, in May 2003, a few months after he had some blood and chromosome tests, my sister and her husband received a letter which was a copy of a letter sent from Elliott’s paediatrician to the paediatric geneticist asking if they could be seen for genetic counselling.  It listed three of Elliott’s problems – 1. Cleft palate  2. Global Developmental Delay  3. Abnormal Cytogenetic studies.  

6 weeks later they saw a geneticist who was quite impressed by what Elliott could do but he told my sister that Elliott would definitely have learning difficulties and various other problems were likely too but really it’s a question of wait and see.  They also took blood samples from Stephanie and Steve to find out if Elliott’s condition was inherited – the results later showing that Stephanie has a balanced translocation of chromosomes 18 and 20.

They say knowledge is power. At that time I had no children of my own and so, knowing what Steph had found out, I went and had a blood test carried out by St Georges Hospital in London by the same consultant that Steph and Steve knew. I found out that I was also a carrier of a balanced translocation. This meant that when I fell pregnant with Grace,  I chose to have a CVS done to see if she was in a similar situation to Elliott.  

Grace carries normal chromosomes – not even the balance – as does her cousin, Elliott’s sister, Emily who was born on 14th May 2005. 

PicMonkey Collage 2I know that Steph and Steve and Elliott have been to GOSH on many occasions. They have been to hospital appointments too numerous to mention. Elliott continues to develop and surprise us all with what he achieves and how much he can do. I know at one stage my sister and her husband were told he may not walk. He does. They were told he may not write but I remember the day my sister told us he had written his name. They were told he may not talk. At first that was so hard. I used to collect him from school at lunchtimes when my sister was working and I was an instructor. I would drop him at my Mum’s and we would have lunch together. We knew makaton but communication was frustrating. It is amazing to see how far he has come since and what a happy, funny and very cheeky little boy he is – and how many jokes he makes (and plays on my poor sister and bro-in-law!).

We are not aware of anyone else in the world with an identical chromosome disorder to Elliott’s, although my sister is aware of a couple of children in the USA with a similar disorder, i.e. they have a partial deletion on chromosome 18 and partial duplication on chromosome 20, it’s just different parts of the chromosomes involved.

Because Elliott’s RCD is so rare there were no guide books or information leaflets on his particular disorder (or similar disorders) when he was diagnosed, so (thanks to Unique) Steph and Steve had to write it!!  And here it is!  Look out for the pictures of Elliott and his sister, Emily!  This leaflet covers similar RCDs to Elliott’s not his specific RCD.

For more information on Balanced Translocations, click here

Since discovering our condition, our family have become members of Unique. They are a wonderful charity who have been extremely supportive to my sister and her husband with Elliott and Emily. They are a great source of support and the best source of information on chromosome disorders.  With the newsletters, discussion forum and contact with other members it really has helped to realise we’re not the only ones affected by this. 

 

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29 Comments

  1. Danielle Vedmore
    November 29, 2014 / 10:47 pm

    Such a gorgeous boy – he’s got a right twinkle in his eye 😉 xxx

  2. Jayne
    November 17, 2014 / 6:30 pm

    Lovely photos, your Nephew is gorgeous. What an amazing Auntie you are too, I hope that you raise lots of money. x

  3. June 25, 2014 / 10:39 pm

    Thanks again for posting this Vicky. I’m really touched by all the lovely comments people have made here too…thank you. If anyone wants to read more take a look at my website http://planetelliott.wordpress.com/

  4. June 8, 2014 / 12:34 am

    What a gorgeous boy! Sounds like your family have found great support in Unique, and themselves are doing an amazing job raising an amazing kid.

    Thanks for educating me on RCD!

    #PoCoLo

  5. June 6, 2014 / 6:59 pm

    It is great of you to have written Elliott’s story. I have been crying for the past 5 minutes after reading he’d written his name after your sister was told he might not write, silly me! Those hormones! He looks like such a happy little man! He seems to have such a loving family supporting him so well to achieve as much as he possibly can. That is beautiful. X Mel
    Mel recently posted..Panic!My Profile

  6. June 6, 2014 / 1:54 pm

    So important that these disorders are known about so that those who have questions and who are carriers or sufferers can share experiences. Sounds like your sister and her husband have done a marvellous job not only with their lovely cheeky chappy but with raising awareness too. x

  7. June 6, 2014 / 8:09 am

    What a lovely post. I think doctors have a constant need to tell you the worst and, in my experience, children continue to outdo what was first thought of them.
    Emma Lander recently posted..#50Days of Summer with Roberts BakeryMy Profile

  8. June 6, 2014 / 7:19 am

    Thanks for sharing. I had no knowledge of this previously. It must be so difficult for your sister and her husband, without any help/knowledge being passed to them. Good for them for being so proactive x
    You Baby Me Mummy recently posted..Word of the Week #21My Profile

  9. June 6, 2014 / 7:14 am

    I don’t have any experience but it must be so much harder when it’s an incredibly rare disorder. Sounds like Unique have been a lifeline.

  10. June 6, 2014 / 7:03 am

    Thanks for writing this heartfelt post about your nephew and for raising awareness about Rare Chromosome Disorder Week.
    When I was pregnant with my daughters, I met a friend at Parenting classes who had a son with Wolf-Hirschhorn Syndrome. This was caused by a mutation, rather than either parent carrying the condition and she went on to have two more babies who were unaffected by it.
    Izzie Anderton recently posted..The Blog SpotMy Profile

  11. June 6, 2014 / 6:51 am

    I think it must be so difficult when your child has a condition so rare, there’s not even someone else with the same condition to talk to.
    Erica Price recently posted..No!Dinky ReviewMy Profile

  12. June 6, 2014 / 12:54 am

    My son has a chromosome deletion as well but his is 2q37.1 and we were told that is was so small that it does not cause any problems but yet he has autism, allergies (lots) eczema and chronic ear infections, etc…
    But another thing we were told is that this is a new thing recently and not much is known. I guess we will find out in the future. I love this post and thank you for posting! I think you may have inspired my next blog post!!
    By the way, your nephew is a doll!!
    Melissa recently posted..Thursday Favorite ThingsMy Profile

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