SGBS Awareness

I’ve always related to the scene in Forrest Gump (my film spirit animal, alongside Sid the Sloth) when Forrest finds out he has a son and asks Jenny “Is he smart or is he….?”

Sgbs
My sister and I (I’m on the right, obviously)

As in the film, kids and even some ‘grown ups’ can be cruel when confronted with someone different to themselves. I like Forrest, never wanted to ‘burden’ my children with what affected me growing up. Aside from physical differences and medical concerns, being born ‘different’ brings with it many more challenges.

Born in the mid-80’s, my parents had no preconception of what affected me before I was born. The medical knowledge wasn’t advanced as it is today and my folks had no forewarnings of the troubles I would face. Couple that with the fact I was a very rare case. I’m told it was an extremely scary time for them. At several points they feared the unknown and often the worst. As a child I met doctors, university students and geneticists who all wanted to find out more about my rare syndrome.

After being born a larger than average 10lb 8oz (apologies Mam!) I was whisked away and checked over by a nurse. I imagine she had to do a quick double take when checking my fingers. I had six on each hand which was 1 of only 24 cases in the UK at the time. When I was 1, investigations triggered by my breathing troubles would reveal I had a hole in the heart amongst numerous other “abnormalities” (I hate that word!) which required urgent surgery.

As a youngster I’m told I hit milestones later than others around my age and my family thought they’d never see me run as my legs were so skinny from lack of oxygen getting around my body due to my dodgy ticker. My Mam said seeing me run post-op was like a miracle. I’ve always managed to trump the odds. It’s only now having my own children I realise how difficult this must have been for my parents. We know we shouldn’t but we compare our kids but they’re only running there own race. Progress is progress no matter how long it takes.

I was originally misdiagnosed with Beckwith-Wiedemann syndrome which is another overgrowth disorder similar to SGBS. Then when I was around 11, new research was found and I was re-diagnosed with Simpson-Golabi-Behmel syndrome It is a condition that affects many parts of the body and occurs predominantly in males. The signs and symptoms of SGBS vary widely between individual cases and can be passed down to your children.

When Rachel was pregnant I was obviously wary of the kids being affected as mentioned in previous posts we had to have extra scans and see various consultants, geneticists and specialists in the field. The information we’ve received has even changed within the last three years. In a nutshell, we now know that as SGBS is X-Linked Recessive our daughter Ayla will definately be a carrier of the syndrome and our son Daniel is unaffected (see diagram below)

Sgbs

Despite the fact that we would love our children no matter what, we were very relieved that they would not have to undergo the operations I did and negative implications to their health. The geneticist told us he’d like to see Ayla when she was older thinking about having her own children.

I’ve genuinely lost count of the amount of surgeries I’ve had relating back to SGBS. The main ones are –

  • Hole in the heart surgery.
  • Both sixth fingers removed – dashing my chance of being an incredible pianist.
  • Most recent surgery being jaw realignment surgery at the age of 22. There was a 10% chance of death with this one but I was more concerned with having my jaw elasticated shut for 8 weeks afterwards.

As mentioned above the after effects to bullying can be long lasting. It can impact your self-esteem, ability to cope with situations and give you a complex for years to come.

I have a great sense of belonging to the SGBS community. I share similar features with everyone affected I’ve seen in pictures. As it is such a rare disorder there are limited resources of support online for individuals and families. There are craniofacial, heart and rare disease organisations availible. I still hope I can share my story, help or contribute in any way that could be beneficial to the people and families impacted within the community. Just let me know in the comments or by e-mail if anyone has anything in mind?

I must apologise for my heavy use of inverted commas in this post but allow me two more. The ailments I’ve inherited from SGBS certainly have made me “different” but then again – who wants to be “normal” anyway?

20 thoughts on “SGBS Awareness”

  1. Never new that about you Danny on the other hand I also have a rare condition called 48xxyy at the time I was diagnosed there was only 15 known uk cases so I can relate to some of your study’s by all means reasearch it it’s quite an interesting read everything it mentions I deal with on a daily basis and sometimes it’s hard to deal with especially having two young boys and recently been made redundant so that’s another situation /hurdle trying to get over

    1. Likewise, I never knew that about you Steve. Testament to you that you’d never know despite your daily challenges. Sorry to hear about the redundancy mate. Sure something will come up for you soon.

  2. As your mother-in-law just want to say how proud I am that my beautiful daughter adores you, your children too – couldn’t have asked for a better son-in law. You’re an amazing, kind, wonderful, handsome man and by golly are you loved. I know we all look at the outside, but it really is what’s on the inside that counts xx
    Offering yourself to help others is your free gift to them 😘.

  3. Well despite all of the things that have challenged you, they’ve certainly made you stronger and I’m sure your parents are incredibly proud!! Such a lovely lad, always have been and sounds like you’re an amazing dad. Thanks for sharing.

  4. I think your an Amazing my person, and it’s also nice to read your storey now as a adult. I remember in school as very small children you telling me about your extra fingers and showing me your very “manly” scar.
    I’m sorry you experienced bullying the thought of that makes me really sad. No one should ever be made to feel different.
    I’ve never ever seen you as any different from me or others maybe that’s because we literally grew up together from 3year old.
    Spreading awareness to any disease, illness, birth defects ect.. is always a good thing cause knowledge is power or so they say.
    Keep up the good work, I love reading your posts your always so possitive and such a gentleman in person.

  5. We’ve watched you grow from a cute kid to a very handsome young man. You were quite close to our kids growing up especially our Kalem, he used to follow you everywhere lol. All the best Danny you have a gorgeous little family xxx

  6. I have a 4 year old son and he has issues speaking. He can talk. But his conversation skills are lacking greatly. He’s very jumpy around other kids (maybe because he’s an only child at the moment) and I always felt there was something wrong with him. We took his to be “evaluated” and they told his mother and I he needed to be in special needs classes. This infuriated me and hurt me to the core. I felt responsible in some way for his shortcomings in speech. But then I realized as you said he’s running his own race. Children all develop at their own pace. There’s no such thing as “normal” or a “standard” when it comes to kids. It’s just these wacky doctors that think they have all the answers. He’s now speaking more than ever and is engaging children at the parks all the time. He continues to surpass all my expectations and make me proud.

    1. Wow! Comments like this make my day.
      I find some doctors read a book and think they know everything. I suppose they have to tell you ‘worst case scenario’ but nobody knows your child like you.
      Thank you for sharing this Shameer.

  7. I am so glad to have run across your post. I have an 10 year old adopted son with SGBS. He is a happy, loving, sweet, little boy, who has been through more than his share of medical issues throughout his lifetime. He is now going through a growing spurt. He has gone from a Childs’ size 4, to a mens’ size 7 shoe, and he’s grown 5” in 6 months. He doesn’t see his geneticist for 2 months. did you also experience rapid growth periods like that? or should I be concerned?

    1. Hi there, I did have growing spurts but I was misdiagnosed as having Beckwith syndrome until I was around 11-years-old.
      I was always bigger and had larger features than the other kids at school if that helps.

  8. Danny, you are and always have been a sound lad. I never saw you as any different to the rest of the kids in the class growing up and, same as Nicola, makes me sad to hear you were bullied.

    Your posts are great and raising awareness of a condition you know more about than the Docs (after all you live with it – they don’t) is amazing work. Keep it up mate.

    Ps – you’ve always been talented – no one could draw a cartoon Steve Agnew like Danny!

  9. Danny, your blog keeps popping up on my search for other families working through an SGBS diagnosis (I just left a comment on Facebook, so my apologies if I’m being redundant). Thank you so much for sharing… My 3.5 daughter was diagnosed as being an SGBS carrier with moderately expressed symptoms in September last year. Nobody else in our family expresses the symptoms or has been tested for that matter… but the poor thing has already dealt with her fair share of procedures, surgeries and procedures. She is honestly the most incredible kid, and I am desperate to find anybody who might be in the same boat. Any thoughts/advice would be deeply appreciated.

    1. Hi Andrea, thanks for getting in touch. Your little girl sounds amazing! It was a similar situation with me, in that none of my family had a history of SGBS. We’ve been told my daughter (also 3) is a carrier but is yet to be properly tested. Definately good to connect and if you have any other questions or just want to chat feel free to get in touch.

  10. Hi Danny, thank you so much for your post i came along while searching for other families dealing with SGBS. Our Son (almost 3) has SGBS (no genetic diagnosis yet, but clinical feature are clear). He was misdiagnosed with BWS while pregnancy. My son looks pretty much like you as a child and I’m sorry to hear, that you have to deal with bullying. But I’m happy to read and to see, that you’ve gone your way though.

    I would love to revive the Facebook-Group to communicate with the SGBS family. So where are you guys?
    Greetings from Berlin/ Germany!
    Sanna

Leave a Reply

Your email address will not be published. Required fields are marked *

This site uses Akismet to reduce spam. Learn how your comment data is processed.