Well, where do I begin? Firstly, apologies for not posting on Friday. The girls have been cutting their two top teeth so it has been a bit of a tiring period what with sleepless nights and stupidly early mornings. I’m not really too sure how to go on, I have reservations of making this kind of health stuff public, especially when it comes to my children, but I figured things happen in life and you can choose how to react to them. Hubby and I have chosen to embrace our journey and raise awareness about things that have happened to us, like miscarriage, mental health and the premmie baby side of things.

Okay, I’ll just get straight into it *takes a deep breath*.

DUANE SYNDROME

As you know, it’s been suggested that Little Red may have Cerebral Palsy (you can read previous posts here and here). Since she came home I’ve been saying that her left eye is dodgy, which lent itself to the CP theory in that potentially her eye muscles were a bit loosey goosey. We’d been to see the Ophthalmologist (eye specialist) twice before where he confirmed her sight was at her corrected age and that he didn’t think the left eye was lazy. Over the past few months it appeared that it was actually the right eye not moving as it should be, so, at our pediatrician appointment back at the beginning of December I brought it up again. Dr L immediately went to his computer and searched for a condition called Duane Syndrome. He was fairly certain she had it but obviously had to refer back to the eye specialist for confirmation.

DS is basically nerve damage that happens around six weeks gestation, it means for some people that they are unable to fully move their eye inwards OR outwards or in Little Red’s case, both ways are affected. This would mean she has Type 3 Duanes. The good news is that vision normally isn’t affected and people learn to turn their heads more so it’s not overly noticeable.

The eye Dr confirmed DS as well as praising Dr L for catching it so early because normally it’s babies over one year old and even though she is, she’s still only ten months corrected (because she was born ten weeks premature). He said he believes she has Type 3 but is unable to 100% confirm it because we need her to keep her head straight and move her eyes. Upon me mentioning the CP idea and seemingly trouble with hearing sometimes, he mimicked Dr L by moving to his computer and searching for a condition, that being Wildervanck Syndrome (WS).

WHAT IS WILDERVANCK SYNDROME?

WS is basically an umbrella for a triad of other ailments, those being Duane Syndrome, Klippel-Feil Syndrome (KFS) and a congenital hearing impairment. Interestingly it can also include other issues such as scoliosis and the heart defect Little Red had before it corrected itself.

In order to get it straight in my own head, and for us to keep a track, I made this really simple diagram:

wschart1

CONGENITAL HEARING IMPAIRMENT

We’ve been concerned about Little Red’s hearing, again, ever since she came home. Sometimes it seems like she is searching for us but what really confirmed it for me was at Christmas time. She was lying on her front looking at the tree, her right side was to me and I said her name. Instead of simply turning her head to the right she went left and moved her whole body around 270° in order to acknowledge me. I thought it was a little strange, given how, especially at the time, she couldn’t move very easily, so I did it several more times and each time she moved her whole body instead of turning her head. Now, it’s been suggested that it could be something simple as fluid in her ears and she may need grommets at some point. Both the girls had hearing tests when they were born and they came back okay but I was advised to get them retested at twelve months due to their prematurity, birth weight and the fact they had jaundice. So, I already had them both booked in anyway.

KLIPPEL-FEIL SYNDROME (KFS)

The Klippel-Feil Syndrome (KFS) again makes the whole thing quite interesting. My understanding is that people with KFS may have some vertebrae on the neck and/or upper back fused together, or incomplete vertebrae as well as potentially having a shorter neck among other symptoms. This kind of explains the stiffness we’ve been seeing and attributing to Cerebral Palsy. That being said, I’m not too sure it explains the thought process of her having Hemiplegiac CP being as one side of her body seems to have a (very mild) issue.

I hope it all makes sense. It’s a little hard for me to get my head around since WS is extremely rare – less than one in a million births. DS isn’t exactly common either.

I was pretty upset on Friday. I guess because there’s been a definite diagnosis and it’s overwhelming to think of new things being chucked into the hat. Of course I’m aware of how fortunate we are to have such amazing doctors and I hope that we can get some confirmed answers as to what she has, if anything, this year. What I’m really worried about though is the thought of the general anesthetic. In order to diagnose CP she would need to have an MRI which, because she’s so young, would require her to be put to sleep. At the moment the benefit doesn’t outweigh the risk and so we, and Dr L, were keen to keep gathering evidence as well as waiting for certain milestones like walking. But, she would also need an MRI to check her vertebrae and help to rule in or out Wildervanck Syndrome.

I had a bit of a cry, not a massive one like when the idea of CP was first mentioned, and made my list of what I need to do now, namely calling Dr L to see if we need to bring forward our May appointment. I already have physio, a NICU clinic and the hearing test booked in so we’re sitting pretty, really. I think some of it was a release too. Apparently it’s only girls who have WS because they think it’s to do with the X chromosome and therefore boys don’t survive. That single thought of what could have been takes my breath away even now, as I write this post, days later.

However, what I do mostly keep thinking about was how happy Little Red was during the eye specialist appointment. We were there for a couple of hours due to waiting and seeing the nurse first but she laughed throughout. She is such a happy girl that giggles to herself and she just makes my heart smile. I don’t think there is a bigger word I can use other than fortunate, but if there was, well, multiply it by ten and that’s what I am.

Love
K x

Read more about it: Wildervanck Syndrome

To read more about Little Red’s health journey please click here.

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4 comments

  1. I have a daughter with Wildervanck Syndrome. She was a 32 week preemie. She is 19 years old now in College. If you need to talk or email. please do. I know what you are going thru. I had to take my girl to 2nd opinion geneticist to get a diagnosis. In Michigan, USA

    1. Hi Christine, thank you so much for contacting me. I’ve noticed the information is a bit sparse out there! I’m in Australia so I’m not sure what the route will be but she’s under the care of a paediatrician and neonatologist so hopefully, between them, we can get some answers or be referred to a specialist. I will keep your message in mind for sure and will be in touch should she be diagnosed with KFS and/or WS. Thank you again.

    1. Hi Beth. Thank you so much for your message. I’ll definitely check out your story when I can sit and have a good read. I think we’re close to a diagnosis but then some symptoms mimic Cerebral Palsy so it’s trying to untangle the web. It’s good to know we can contact people to ask questions so thanks again for that x

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