Thursday, February 10, 2011

Discovering The Tortoise Collar.

I had this whole other post I was going to write this fact - I've had several posts lined up over the past few weeks but I haven't had the heart or the mind to write them. I've lost the drive for writing just at the moment - something which is depressing me a lot. But other things have taken over which are far and away more important - and saddening right now.

We finally got an answer to the mystery that has been our daughter's crooked neck this past week. Those of you who visit my site regularly may recall a couple of posts I wrote last year when we first began observing a distressing head tilt and generalized stiffness in our infant daughter. The symptoms became all the more alarming when Lucy started having long periods of neck stiffness and visible discomfort that would last for several weeks at a time before abating somewhat. She would enjoy a short period of relative freedom before relapsing into these episodes again.

Over the Christmas period, we began to notice that Lucy's sleep patterns were broken by these terrible seizures that would come out of no-where and cause her to jerk and spasm for long periods of time before settling too. They'd occasionally happen during waking hours but they were much more visible at night. Suffice to say, it's been bloody awful to watch.

Well, after seeing a neurologist in Adelaide, who specializes in children, we came away with a rather distressing diagnosis - benign paroxysmal torticollis of infancy. The disorder is so rare that, in the words of our neurologist, he has seen maybe one case in six years.

This syndrome usually becomes apparent from the age of about six months - right at the time that many infants are beginning to hold their head up on their own. It is characterized by the alarming head tilt which, in itself is problematic because it pulls the musculature of the head and neck out of sync, resulting in associated problems that require physiotherapy to correct. We are told that the reason for this head tilt is because Lucy is experiencing severe migraine headaches - severe enough that they cause her considerable pain and exhaust her easily. Along with these headaches are pallor, sweating and generalized stiffness, poor sleep and in some cases seizures. Treatment for the symptoms is limited and sufferers of it don't readily respond to pain relieving medication, partucularly in the case of the migraines.

Now the real kicker with this syndrome - lets call it BPTI since wanky monikers are often given over for the sake of brevity - is that we can expect Lucy to have to deal with it up until the age of 5 years, after which time it should taper off to nothing and Lucy should be okay.

Should be okay...

So in the meantime Lucy has to endure these extended periods of suffering and there isn't a hell of a whole lot we can do to alleviate her pain.

BPTI is one of those syndromes for which not much is known about it. It is part of a family of benign (an oxy-fucking-moron if I ever saw one) neurological disorders in children that have no apparent causative factor and just seem to pick their subjects randomly. Of course, medicos take grwat pains to stress the benign part of the descriptor but when a parent is holding their infant daughter in their arms and she is seizing as though attached to a faulty electrical cable, screaming in pain - there is nothing fucking benign about it.

It's not all bad though. Lucy remains a blissfully happy child with a mischevious streak which is becoming apparent - even on her bad days. She is hitting her milestones as we would expect and, although developmental delays are a concern with BPTI, we are hopeful that Lucy will be okay. If anything, it has served to strengthen our resolve to be as attentive to her developmental needs as we can.

In the meantime, we continue to see a physiotherapist who specializes in children and who has a wealth of experience with the singular phenomenon of torticollis (the neck part). By keeping Lucy's neck muscles supple, we're hoping to prevent any lasting damage to her neck. We also intend to explore some alternative treatment modalities which will complement the treatment she has had thus far. Whilst I'm wary of many of these so called therapies, I don't discount for a moment the value of some of the more universally respected Eastern modalities which have proven effective.

I've shed tears - more than a few these past few weeks and I have struggled to absorb the diagnosis with all it's ramifications for the near-term. I'm angry, grief stricken, powerless to intervene or to protect her from the awful pain Lucy goes through each time things get bad.

And yet...

Encouragement and hope have come from the most unlikely of places.

Whilst conducting a round one evening, last week, on the block at the prison I have been nursing at, I was overcome by emotion and struggled to regain my composure for fear of being laid bare in front of the "guests". As I was tending to a fairly notorious character, giving out his medications and checking his charts, he rather uncharacteristically patted my arm and said quietly, even knowingly "Everything will be okay son". Our eyes met and for the briefest of moments, I saw in his compassion and hope - commodities that in a place like that, are uncharacteristic gems.

So the Tortoise Collar has been discovered. We hold it reluctantly.


  1. Aw Dean, I'm so sorry. It's so painful to see you child hurting. Such a helpless, awful feeling. I don't know that there's anything worse. At least with your own pain, it's just you, you know? We just don't sign up for this kind of thing when we have kids. You don't think about this when you're about to have a baby. You think of the ballet lessons and picnics and days at the park.

    I truly hope they will find something to help her--if nothing else to help moderate the pain. Your poor, beautiful, precious Lucy. She doesn't deserve this, and neither do you. But you guys will tough through this. You're strong and wise. You've got what it takes. Just hold your baby girl, Dean, and rock her through it. You'll never let her forget who loves her and who's there with her, as much as it hurts you. But you'll be there suffering with her, and that will make all the difference. Your sacrifice will be meaningful. And really, you wouldn't have it any other way.

    Hang in there, papa. I'll be thinking of you guys.

  2. Dean, you're a great and loving daddy, and I'm sorry your little girl has to deal with that condition! I'm also glad it's not any more serious, and is likely to vanish after age 5. Though that may seem a long time off, it may well mean that when she grows up she won't even remember any of this.

    In any case, sending positive visions of a healthy, beautiful grown-up Lucy (for the future) and an adorable baby with minimal periods of suffering (for the near term).

    Pretty sure "if it's not one thing, it's another" is the motto of parenting...


  3. Thank you Molly.

    For the most part, Lucy enjoys a happy and healthy life but on the days that she struggles it really is awful.

    Iam thankful that at least now we have an answer to the mystery. We feared it might have been something a lot worse.

  4. Hello there, I stumbled upon your blog. I'm a mom of a 2 year old little boy with the same condition. We've become somewhat pros over the last two years dealing with this and navigating physical and occupational therapy. The good new is that the tilts are very infrequent now, though some of the related muscle tone issues persist for us. But the real reason I wanted to leave you a comment is that we have a great group of moms and dads on facebook. It's a private group so that weirdos aren't looking at our children online and also because we are able to be much more open knowing that the only people seeing our discussions are other parents going through the same thing. This is the one place where the most up to date, comprehensive information is. There are several parents who've seen remarkable improvements with medication and other therapies. Here's the link, hope this helps some.!/group.php?gid=102344302550

  5. Dean, so sorry about your little girl. Our little one has it - she's had the head tilt since about 3mths old. At first we thought it was due to the positions she'd get into when she was sleeping in her cot, but its persisited - but only in the mornings, and only every few months (at one stage it was every 2 weeks). But the worrying thing is that (she's 21mths now) in the last 2 mths she's now getting it after her daytime nap. Thankfully it doesn't seem to affect her in any other way, but our GP hasn't been able to pinpoint it - so thankful we did some searching on the web and finally came up with this. I hope Lucy keeps improving and that it dwindles to nothing - but thank you for posting about it - its sort of a relief to actually have a name for it, instead of imaging all sorts of horrible things. And Xina - thanks for posting about your group - I've just signed up for it. xxx

  6. Thank you so much for stopping by and reading my post about Lucy and posting your feedback and personal stories. This means a lot to me and certainly lessens the isolation we feel about the whole diagnosis.

    Feel free to direct others who you might know towards this post and encourage them to join the FB Group above.

  7. I just stumbled across your son is almost 6 months old and has had the bizzare head tilt pattern since he was about 3 months old. We just heard of BPT a couple of days ago, after our Pediatrician consulted with a Neurologist and the Neurologist claims this is what our son has. Of course, we can't get our son in to see the Neurologist for 3 months, as he's completely booked. So, the waiting game begins.

    Right now I can't help feeling that with such a rare disorder, what did my family do to deserve this hardship? My son struggles with muscle tone already, and it breaks my heart to see him with his ear to his shoulder, not able to sit straight; not able to start solids because he just slumps down in his high chair.

    While I wouldn't wish this experience on anyone, it's nice to know that there are people out there that are going through the same thing. I wish you and your family well. Thanks for putting your thoughts out there for people like me to read.

  8. Elyssa - Thank you for taking the time to share your own story here. It certainly is tough but fortunately with time and perseverence, there is a way out of this jungle.

    Might I suggest in the first instance you seek out the services of a physical therapist - one who can work with children. The one thing we have noticed is that with regular gentle manipulation, things have been made a little better for our daughter. While it hasn't completely taken the symptoms away - it has helped.

    Also, make sure that you can either get on the neurologist's cancellation list. If someone cancels their appointment ahead of you, often you can jump forward in the queue. If not, just keep bugging the secretary to see if there has been any cancellations.

    Keep in touch eh?

  9. Thanks for sharing your daughters story Dean. My six month old has recently been diagnosed and it's terrifying. How is Lucy doing now? I'm glad I also found the Facebook group through here, it's nice to know we're not alone.

    1. Thanks for reading Madeline. I am pleased to say that Lucy is now five years old and the worst of the symptoms are behind her. She occasionally still gets the headaches but, of course now she can verbalise when she has them. She hasn't suffered any major setbacks.

      There is light at the end of the tunnel.