Blog Pregnancy

Marshall Stickler Syndrome, My Cleft Palate & Me

I’ve never really written about my medical history before. I tried once, when I was first pregnant with Bill, but it was hard to get it down, because it’s quite hard to write about something you have, when you don’t know, or feel any different.

By that, I mean that it’s not really something I feel makes me any different. But I know if you ask my parents about my early years, they will disagree. 
I was born on 25th January 1988, ten days late. My mum went into labour with me and laboured hard for hours. It turned out that I was face presentation, which means I was trying to come out face first, which is dangerous for both mother and baby. And so my mum was rushed for an emergency caesarean.

That seemed like it would be the worst of the day I was born. But once I was delivered, it was apparent that something was wrong.

I stopped breathing and medical staff quickly realised that I was born with a cleft palate.

I almost died three times in the following three days, as they couldn’t keep my airways clear.

And not long afterwards, I was diagnosed with Marshall Stickler Syndrome.

Marshall Stickler Syndrome is a group of genetic disorders that affect the connective tissue. There are actually two syndromes, Marshall Syndrome, and Stickler Syndrome, and it’s debated whether they are similar, or just the same. But I was given the label of both by the team who have treated me.

In short, the syndrome affects:

  • Your eyes, which are characteristically large and can suffer with vision issues and myopia.
  • Your joints, which can experience hyper-extensibility (double-jointedness) and arthritis. 
  • Your facial structure, which tends to lead to a flattened face, with high cheekbones and a small bridge of the nose. 
  • This can also be related to a group of facial features called the Pierre Robin Sequence, which tends to include a cleft palate and a small lower jaw. 
  • Your hearing, as you tend to have hearing difficulties and deafness, which can worsen over time. 

My parents were also told, at birth, that I may go blind and deaf and, consequently, not learn.

Marshall Stickler Syndrome is caused by a genetic mutation of the COL11A1, COL11A2 and COL2A1 genes. And it is expected to affect around 1 in 10,000 people. It is inherited in an autosomal dominant pattern. ‘Autosomal’ means that the gene in question is located on one of the numbered, or non-sex, chromosomes. ‘Dominant’ means that a single copy of the disease-associated mutation is enough to cause the disease. This diagram shows that much more easily though (it hurts my head too!).

A person with the gene, has a 50% chance of passing it on. I don’t know who, out of my parents, carry it, and I don’t care. I don’t blame either, and I don’t wish things were different. I have a younger brother, James, who is three years younger than me, and he was born without the syndrome. 

As for me, well, here goes!

I was kept in intensive care for six weeks. I wasn’t allowed home until my parents learnt how to feed me by a nasogastric tube, from scratch, and could also put in an airway. My parents joke about how strange I used to look in intensive care. I was a fairly big baby at 8lb 10.5oz, and I looked like a giant next to the other babies, who were most premature. My mum and dad said they could see other families and visitors looking confused and wondering why this big baby was in there at the time.

Over the years, I had two failed palate repairs, one pharyngoplasty (an operation to change the shape and function of the soft tissue of the palate – the pharynx), one cyst removed from my mouth and an attempt at grommets.

My parents used every holiday of the first year of my life in hospital. And to be honest, that makes me well-up. They were just 23 and 24 when I was born. The enormity of what must have hit them, and how quickly they must have grown up, makes me feel so grateful to have such strong and loving parents, who did everything for me. I remember them sleeping on camp-beds next to my hospital bed. And keeping me company when all I wanted was to go home.

I remember once reading my medical notes and reading that I had, what was referred to at the time as spoon-face. Which means I don’t have a particularly strong profile. If you look at me from the side, you’ll notice my nose isn’t particularly prominent, and my jaw is quite small. My cheekbones are high and my eyes are large. And that’s my face. I look like me. But at the same time, I look the way I do because of my syndrome, I don’t particularly look like either of my parents, or my brother, but I do have my dad’s smile at least!

I have had glasses, orthopaedic shoes, speech therapy, and a hearing aid. All of these issues seemed to fix themselves over time.

My vision is decent these days, though it’s been a while since I was last tested.

My ankles are particularly weak and I am useless in heels, but that’s a small price to pay really. And I’m not exactly elegant anyway!

My speech is good now. This is the most important thing for me. I wasn’t good at talking – though I tried – when I was little. And so for me, being able to stand up and give speeches, or train people, is a really big deal for me as an adult. I’m also a singer, something no one thought I would ever be able to do. I almost pursued it as a career, but my sensible side won me over and I entered the world of writing instead. I thought, aged 18, that it would be more reliable!

I do often get pulled up on having a ‘posh’ voice, which annoys me sometimes as I was taught to speak ‘properly’ by a speech therapist, and so I pronounce things quite clearly, unless I get over-enthusiastic. Sometimes I can stumble over my words, and sound a bit nasal. I also have this weird sort of noise when I talk sometimes. Like air passing through my mouth. Only those close to me notice it though. I do sometimes wonder what the ‘real me’ would sound like, or even look like. But I guess this is the real me.

My hearing aid was actually due to a burst eardrum, so I don’t know if it’s related. I had it for a few years and I was bullied a little bit at school, which I found hard. I was due to have an operation to fix my ear, but when I was checked, it turned out it had healed itself. Which was amazing! My hearing now is less than average, but, last time I was checked, I was not deaf enough to have a hearing aid anymore. Though my family beg to differ, they think I now need one, and I think they are probably right. Though I am scared because all I think about is the bullying. And that doesn’t leave you!

To be honest, it might sound like a lot, but for me, the worst memories I have come from not being able to wear those shoes that lit up when you walked in primary school, having to go to speech therapy after school when I wanted to play with my friends, not being able to play the flute because I couldn’t blow properly, being teased, being in hospital on my birthday, struggling in heels and never quite understanding why as a teenager. Minor things really.

But the nice memories, like my pink-rimmed glasses I used to have, and turning my hearing aid up so I could hear things really far away, or singing in front of the year six class, when I was only seven, or getting rid of my ugly special shoes, learning to suck through a straw (a McDonald’s milkshake in the Stockport Merseyway branch, upstairs with my back to the window), or finally being able to whistle (aged 15) – they are worth it.

So what does this mean for my children?

The main reason I have written this post, and the main reason for it going live today is that, as I mentioned before, I have a 50% chance of passing this on to my child. The odds within that obviously depend on genetic dominance and chance. But I have a growth scan to check this baby girl’s development today (the day I scheduled this) and I’ve been a bit nervous for the past week.

With both pregnancies, I started with consultant-led care. With Bill, I had genetic counselling at St Mary’s Hospital, in Manchester, in early December 2011. And I was extremely nervous. I was only 23 and I remember sitting there and trying my absolute best to take it all in. And try and understand what was happening.

The genetic team were quite excited to have me there, as they could update my records and keep my medical history on file to help them with their research. And I came out understanding that the worst case scenario for my children, was to be, just like me.

And I am fine with that. Of course I am. I am here and there’s nothing a matter with me.

But at the same time, I do worry. I do feel guilt at being the one that could cause my children future problems. I feel nervous for them.

But the relief I felt when Bill was born. The first thing I said was: “Is he okay? Is he breathing?” And I was terrified. But then, as he cried, and he was placed on my chest, tears tumbled down my face because he was okay. He’s been the picture of health ever since and I have to be honest and say I’m relieved he doesn’t have it. Please don’t judge me for that.

This time around, I am just as nervous and anxious. I didn’t ask for further counselling, as I believe I know enough about my syndrome now. And I feel much better placed to handle it. I’t’s not a life-threatening condition, least not with the medical advancements we have today, and hindsight of course, but you still worry.

We have a scan today at 1:30pm. And a consultant appointment straight afterwards.

I have every hope that our daughter will be okay. And that everything looks good. And that I might be discharged from consultant care. And I can go forwards with the last few weeks in pregnancy, still slightly wary and still prepared for any outcome, but with a bit of medical faith on our side.

I don’t care what she looks like, I just want her to be without any problems or struggles, and be okay. I want to give birth to her and watch her take a powerful first breath and cry. And I want to keep her safe, always.

I have never really touched on this, or spoken of this before. I don’t ever know how to quite explain it, without writing a post this long, that has taken me a few days to finish. I know, in the grand scheme of things, this is not serious, but it’s important to me.

I wrote this because…well, if you’re a person like me, who has the syndrome, or you wanted to find out more. Or if your baby has been born with it, and you are worried. Or you are just someone who reads this blog from time-to-time. Hopefully it has either helped you, calmed you, or taught you something new.

Wish us luck!

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10 Comments

  • Reply
    Bethany Rebecca
    9th February 2016 at 12:14 pm

    I am lost for words and my cheeks are being treated to hot waterfalls!!!! Somehow you manage to make me experience so many emotions by just writing. By just being you!

    I don't mean this badly but I'm glad you've had the struggles or you wouldn't be who you are today.

    Xxxxx

  • Reply
    Laura-Hyde
    9th February 2016 at 12:23 pm

    Wishing you all the luck in the world, but I know, no matter what the outcome, your daughter will be beautiful, confident and intelligent, just like her mama xx

  • Reply
    Claire Evans
    9th February 2016 at 12:32 pm

    What a lovely, helpful and informative post.

    So scary for your parents. Ours was a different situation but I relate to some of that- our baby Danny looked bigger in PICU compared to all the premature babies-it's so odd! We were also there for weeks and brought him home being tube fed. He's also had special inserts and shoes etc as has hypermobility too and a few other extra syndromes on top his heart condition.

    Then my heart soars as I imagine how proud your parents must have been when you learnt to talk and walk and then could see and hear, and have grown into this beautiful, kind, thoughtful lady!

    So sad to hear about the bullying and how it stayed with you. I can also imagine how hard it was not having light up shoes. I loved the advert for them when I was little (before your days though lol).

    I hope the scan goes well. You are going to have a lovely little girl who already has such a good mama (and papa and big bro)to look up to xxx

  • Reply
    Carlie
    9th February 2016 at 3:56 pm

    Thank you so much Charlotte, for writing this. It's very brave of you. Yesterday, my daughter was diagnosed with a very rare genetic disorder, and we have no idea what the future holds for her. It's lovely to read a positive story instead of the negative ones we have been reading for the last 24 hours. I hope your scan goes well, but if not, your daughter will be lucky to have an inspirational role model like yourself Xxx

  • Reply
    julia Pa
    9th February 2016 at 6:21 pm

    Oh gosh hope today went ok either way. You were a gorgeous baby. So cute. Whatever happens your daughter will be gorgeous inside and out with you as her mummy x

  • Reply
    What the Redhead said
    9th February 2016 at 9:58 pm

    This was such an emotional post Charlotte. I think that everyone wants their child to be free of any ailments and as healthy as they can be – so being relieved at Will being syndrome-free isn't something to judge – it's a normal reaction completely.
    I was born 3 months early and I was in hospital for quite a while. I then had speech therapy as a child as I had a dummy for too long and learnt to speak around it. I then had an operation on my eye when I was 18 months old and had to wear a patch over one eye and NHS glasses. I remember similar things to you from those years – all the negatives.
    I hope your daughter is completely healthy, and that you don't pass it on. But if you do, it is not a case of blame and your daughter will be fine – just like you are – more than fine! x

  • Reply
    Laura Staines
    26th April 2016 at 9:52 pm

    I just wanted to say that you and your daughter are absolutely beautiful. I watch your YouTube videos and until reading this I would be none the wiser that you had been through this. Having seen your Twitter, I understand that your daughter has the same syndrome as you. You seem like the most wonderful, loving mum and you have first hand experience with this. congratulations to your family on the arrival of your beautiful bundle of joy. Stay strong all your daughter needs is you guys xxxx

  • Reply
    Rebecca Maxwell
    24th September 2016 at 5:26 am

    My daughter is 12 now. Born in 2004 we had no idea she had peirre-robyn sequence. We were told they would monitor her for sticklers syndrome. So far she has been healthy. Had her cleft palate repaired at 16 months. My daughter has joined band is trying to learn the flute. She is having a lot of trouble making it make noise. I was looking on the internet to find info if having the repaired cleft palete affect her ability to play the instrument. I have found no info besides your reference in your blog to not being able to play the flute. She still has a small slit like hole on the roof of her mouth that fluid can seep through but not food. Should she try a different instrument or should I encourage her to keep trying with the flute? Thank you.��

  • Reply
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    16th February 2017 at 1:29 pm

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  • Reply
    Jaimee
    30th April 2017 at 9:00 pm

    Wow, thank you so much for sharing. My husband has stickler syndrome. His main issues are sight and arthritis particularly in his knees.

    We are pregnant and it is only early days and after 2 miscarriages (still not sure of the exact reason why but doctors have said most likely chromosonal so you can imagine my worry) I have started to look into it a little bit more online just to give myself peace of mind that this isn’t the reason we haven’t had a healthy pregnancy.

    Anyway, I just wanted to thank you for your story. It really helped me today to read through someone going through the same anxieties I am right now.

    Part of me thinks we should probably go and see a specialist to just be sure that we are monitored properly but I think my husband is reluctant so for now just seeing your blog gives me some faith that we will have our rainbow baby soon.

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