About Me

OK – it  seems a little weird to know how much stuff I need to say about myself, without writing a book. So, I guess I will go with the information I like to read about someone, when I am spying on their Blog!  My name is Rachel Lorkin, I was born in the United Kingdom, but migrated to Perth Western Australia with my family when I was three, so I call Perth home most of the time. I am very proud of my Australian Citizenship and have been able to pass this on to my lovely children. In 1991, I met my husband Simon, (a holiday romance), while I was traveling the UK and in 1992, I relocated to Cambridge UK so that we could play house. It was pretty good – so we got married in Las Vegas in 1996.

In November 1997, we had our most beautiful daughter, Rebecca, who has just turned twelve. After getting the hang of the motherhood thing – and with much prompting from Rebecca, who was desperate for a brother, we welcomed our gorgeous boy Nathan, born in February 2005, so he is four and three quarters! He was so good, I began to think – wouldn’t it be nice to have two boys who could play together… Then came bundle of joy Luke in the summer of July 2007.

Life threw us the opportunity to leave lovely Cambridge in Autumn 2007, (I also call home – having lived there for seventeen years) and relocate to Silicon Valley. This combines for me the best of both Perth and Cambridge – Gum trees and Sunshine, Culture and Art, Smart and Funny people! We live in a beautiful area and are very happy with our life here in California.

My blog is essentially about how our journey with Luke started here in N.California and the crazy world of special needs can take over your whole life with one blood test. Now I am a 43 year old mummy of three beautiful children – who all have their own special needs, let’s face it – we all do. However, Luke’s has a special name – Chromosome 15q Duplication Syndrome. Chromosome 15 is unique to the body particularly development, both physical and neurological, and is unstable during conception, deletions and additions to this part of the chromosome lead to an array of disabilities and impairments – all with varying degrees. Prader Willi Syndrome, Angleman Syndrome are those disorders with deletions. We have the opposite, an extra marker on the chromosome, that also contains some genetic material – which is referred to as Isodicentric 15, if we had no genetic material it would be Interdistial 15.

If you want to know more about this condition, one of the best on-line resources is the IDEAS website at www.idic15.org

Enjoy!

Rachel x

Advertisements

Responses

  1. Hi Rachel,

    It will be great to see how Luke is getting on, and how you all are as a family. Luke is very lucky to have such a strong, resourceful Mother!

    Keep us posted!

    Love & best wishes, Louise

    Like

  2. Rachel, you are an inspiration and your family will remain strong with all your wonderful support. Look forward to hearing your updates
    love Julie

    Like

  3. Seems like you have a very hectic life Aunty Rachel.
    Love keeping up to date with everything that happens.
    Love, Natasha
    xox

    Like

    • Hi Lovely, Yes it does seem a little kooky at times – can you believe that I actually break out into a jog doing the laundry! It would be great if my little fellows didn’t mistake me for their personal slave and could get their own drinks! Believe it or not, Nathan can actually put his own shoes on if we are going to the shops to buy something for him – but cannot manage it when going to school – gggrrr! ARxxx

      Like

  4. Hello Ma’am.
    I am a 17 year old highschool student who is doing a project concerning
    Idic-15 and Dup-15 for my Family Health Class. I came across
    this blog as I was searching for sources of information
    about Isodicentric-15. If it is permissable, I would like to conduct an interview with you for my project via email. It would only be 5 questions.

    (Please pardon me if I seem too forward: I have never conducted an
    interview before, and am a bit unsure how to proceed.)

    I am very thankful for this opportunity to learn more about the world
    around me. Thank you for your time. 🙂

    ~M. B.

    Like

    • Hi Marci

      I have been missing in action for a while and if you still need some help, I will be glad to assist!

      Yours Rachel

      Like


Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s

%d bloggers like this: