It occurred to me that I haven’t really given an update on what’s been happening with Little Red’s health since January. You can read the post detailing Wildervanck Syndrome, Duane Syndrome and Cerebral Palsy by clicking here.

There have been developments and we’ve found we could be close to getting a diagnosis but also not so close! I know this sounds quite contradictory but as with all things health related it can seem like it’s one step forward and two steps back. Or, seemingly in our case, steps in different directions. A bit like a dance floor where different specialists are your partners.

I’m just going to get straight into it…

WILDERVANCK SYNDROME

In the last post around the subject I told you about Wildervanck Syndrome and what it encompasses. Here is a visual update as to where we are at regarding the diagnosis:

EARS | NOSE | THROAT (ENT)
Hearing

I took LR for two hearing tests. The first one she didn’t “perform” well so it was inconclusive. The second she did really well with no apparent cause for concern. I was advised that the testing is not 100% guaranteed she has no hearing impairment simply due to her age and the limitations it brings. However, there are no obvious signs of any issues and she would only need to return when she’s older should we have any concerns.

We were obviously really pleased with outcome, purely because it’s one less thing we have to worry about and one less specialist we have to see. *high five*

Nose

Little Red has always snored so we think she could potentially need her adenoids removed at some point. The pediatrician naturally referred us to a specialist for the whole ENT caboodle but, taking into account the cost of a few hundred dollars we cancelled our appointment.

You see, it wasn’t really the money side of things, more the what if we get there and she doesn’t let him examine her and it still costs us $300 type thing. (We’ve also noticed specialists tend to book repeat appointments so that they can “keep an eye on things”. I’m taking the view that this is standard in receiving the best health care, however, for your average person this can put a very real strain on finances. Especially if you’re like us and see multiple people).

So, we actually made the decision not to go just yet. Instead we will wait until she is better able to take instruction and therefore a more accurate opinion can be gained. We figured her scoliosis was more of a time pressured issue and the reality is we do have to think about juggling these appointments. Not only for financial reasons, but also for putting our girl through them.

KLIPPEL-FEIL SYNDROME (KFS) & SCOLIOSIS

As I mentioned before, my understanding of KFS is that it is to do with the bones, namely the vertebrae. It’s not particularly common but our pediatrician has explained that Scoliosis could be a part of it, as well ribs being affected.

In January it did become apparent that LR had a curved spine which was recently confirmed by an X-Ray. The fact that she is still quite young means two things for us regarding further investigation.

  1. Her bones might not be fully developed or in the right place to get accurate measurements and therefore clarify if she has KFS.
  2. In order to get a complete 3D image of her spine we would need to do an MRI. Again, due to her age, this would require a general anesthetic. In contemplating this we have to weigh up if the risk versus benefit is worth it.

We do have to confirm the exactness in regards to her Scoliosis because it could impact treatment and also influence what she can do sports-wise. For example, if Copperhead headed a football it might not even hurt. The same for Little Red could cause her neck to jolt and have bigger ramifications.

So what’s going to happen now?

The reality is she could be looking at a back brace, which could be a bit like a hard vest. Surgery is also an avenue for extreme cases. Adolescents can get Scoliosis during growth spurts, so in knowing this we ideally wouldn’t want to do the surgery now and then have to repeat it when she’s a teen. Not everyone with Scoliosis requires surgery. The main thing is that it doesn’t worsen.

We’ve been referred to a spine specialist in Sydney, of which we are planning to make a family trip out of it. Since he’ll probably be someone we’ll be seeing for years we figured it’s a good way to handle it. Little Man is super excited about going to the big city and it has opened quite a few good conversations with him. I think in years to come, it’ll also be a great support for LR to have her siblings with her and to do something fun at the same time. I guess we’re hoping it’ll take any potential sting out of it for her.

CEREBRAL PALSY (CP)

Hemiplegia Cerebral Palsy is where one side of the body is affected. This was the type that was initially mentioned to us last year, specifically to do with Little Red’s left side. However many of those symptoms that were attributed to this kind of CP can now be explained by other diagnoses. Like the Duane Syndrome and Scoliosis for example.

We see a Physiotherapist and Occupational Therapist every month to monitor and work on ailments. Since we last saw them Little Red has been couch walking and using a walker and we’ve noticed that her right leg appears quite stiff. As well as her right foot pointing outwards at 90° when standing/walking.

So what does that mean?

Our main concern is that it appears like she relies more on her left leg, and if this leg/foot is “the weak one” then what does that mean if its acting as the strong one?

One thought was that it’s a different type of CP. That it could actually be Diplegia CP, meaning both her legs are affected instead of one side of her body.

We’ve been told that she could be “unlucky” and have both Wildervanck Syndome and Cerebral Palsy. However, we’ve also been told that her CP would be so mild that no one would probably even know. (There is more to explain about the actual diagnosis of CP and currently she hasn’t been categorically diagnosed with it. It really is a subject for a whole other post!) We’ve also read that a small percentage of Wildervanck cases have symptoms that mimic CP.

So, like I said, one step forward and one step sideways.

L-R: Little Man, Little Red & Copperhead
If you’ve read this far…

I’d like to end by saying that although we have these things going on with our baby bear, it’s not really something that we see in a negative way. It doesn’t define who she is nor does it make us treat her any differently. I know she’ll be fine because it’s just who she is. Plus, judging by the photo above, her brother and sister will always be there to give her a helping hand.

I would describe her as not only fearless but fiercely unwavering too. It may take her longer to do something but I’ve yet to see her give up. Little Red may need a rest in between tries but she’ll always keep going until she accomplishes her goal. Being able to finally join her siblings on the couch is a prime example of this.

Her personality is tenacious, sweet and joyful and we wouldn’t change one thing about her.

Thank you for reading.

Love,
K x

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

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