So There’s This Drug

BMN 111.

I read about it briefly when I was scouring the internet in those first few months after Declan’s birth; googling ‘achondroplasia’, in search of any and all information I could get my hands on. I didn’t really dwell on it too much; it didn’t seem pertinent at the time. Back then, I just needed to know the ins and outs of the here and now.

It’s come up in the odd discussion in POLP groups that I’m a part of. Lots of people feel very strongly about this issue one way or the other.

BioMarin Pharmaceutical has produced BMN 111. What the heck is it? Well BMN111 is a possible treatment for children born with achondroplasia.

My first thought… “well, my child isn’t sick.”

Two years ago, when I first read about this drug, it was in its infancy of research. But yesterday? Yesterday BioMarin began Phase 2 of the study and dosed the first patient (a child with achondroplasia) with BMN111. All of a sudden it’s a lot more real.

My second thought… “I can’t imagine subjecting my young child to a new drug study.”

From the Press Release:

The Phase 2 study is an open-label, sequential cohort, dose-escalation study of BMN 111 in children who are 5-14 years old. The primary objective of this study is to assess the safety and tolerability of daily subcutaneous doses of BMN 111 administered for 6 months. The secondary objectives will include an evaluation of change in annualized growth velocity, changes in absolute growth parameters, changes in body proportions and other medically relevant and functional aspects of achondroplasia, such as sleep apnea and joint range of motion.

Some more thoughts (presuming this might, someday, be a possible cure or treatment for achondroplasia)…

What’s wrong with my happy, healthy, funny, smart, most amazing little 2 year old boy?

Why would I want to change him?

Does this insinuate that there’s something wrong with him?

Why wouldn’t I want to give him the opportunity for “an easier life”? (practically speaking, a chance at living without the accommodations that come along with being short statured in this average sized world).

It would be years before we knew the long terms effects of this drug.

I’ve met amazing and inspiring adult LPs. What’s ‘wrong’ with having him grow up just the way he is?

If I could erase the potential future pain and surgeries and other issues that come along with achondroplasia, why wouldn’t I?

A little all over the map? Yep, that’s me. I really don’t know what I would do, if given the opportunity. Declan is only (just) two years old. He has a lot of growing years ahead of him. What if this drug breezes through its trials and does exactly what they think it will do? I just don’t know. It’s different than (the also controversial procedure) limb lengthening. Limb lengthening is an option (an incredibly painful option that takes years to complete) when a child is older and can play a large role in the decision making.  I’m assuming BMN111 would be administered when the child is younger, leaving the decision making to the parents.

I’d love to hear your thoughts!

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Did I say someone turned 2? Oh yes he did!

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Abnormal

I was really looking forward to having a midwife for my second pregnancy. The first time around we were living in Alberta where midwives weren’t covered by health insurance at the time, so it wasn’t even an option. I was looking forward to the one-on-one care and developing a relationship with the person who would eventually be delivering my baby. In the end, my idealized vision of having a midwife for my pregnancy, labour and delivery was not as awesome as I had hoped (but that’s another post, for another day).

One of the cool things with midwifery care, is at the end of it all, they give you your files. This includes all your appointments during your pregnancy and the files and paperwork done during labour and delivery as well. During a time that was most definitely a big blur (labour!), I thought it would be neat to look back on and see how long each stage of labour was.. what the baby’s apgar scores were, and so on.

It also has medical terminology and notes and marks that I don’t understand. But most of it, I get. I also get that there are terms used medically that are acceptable and par for the course (such as the “r word”, amongst others that aren’t so “PC” anymore in regular vernacular).

I didn’t look at the papers right away. I think I got them at my 6 week, post-partum checkup. It was maybe a few weeks after that, I don’t remember exactly. But I do remember how I felt when I saw those words…

Abnormal.

I know it’s medical paperwork. I know why that box is checked. But it didn’t stop me from feeling that instinctive mama bear feeling; my baby far from abnormal.

There’s a section for ‘physical examination at birth’ and another for ‘examination at discharge’. And there it is, in both sections… My baby’s general appearance (along with head and musculoskeletal) was deemed abnormal.

How could this be? Right after he was born, I remember looking at him, thinking I should see something overtly ‘wrong’ with all the concerns people seemed to have. But there he was; a happy, healthy, hungry baby who seemed every bit of ‘normal’. I didn’t do anything differently with him compared to my first newborn baby. He was showered in love, fed a million times/day, snuggled to sleep. Yes, as the weeks went on we had appointments and tests to attend to. But at the end of the day…he was just like any other baby born into this world.

I want to end with… “He was just small, that’s all”. But he wasn’t even small ;) He was a healthy, happy 10 pound newborn baby, just needing to be loved like everyone else. There’s nothing abnormal about that.


About 2 weeks old, Declan’s first Christmas.

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Been busy… but Happy Birthday (to me!)

Okay, it’s not my actual birthday. But as of last week, I have been at this blogging thing for one whole year! *cue the trumpets and bagpipes and birthday cake*


Note to self: don’t ever again google birthday cake images when you are hungry.

Okay.. not so much. There’s no time to think too much about it, as I’ve been too busy!

One year ago, I didn’t really know what direction this space would take. I still don’t have one big goal or purpose with the space. But I like it. And it feels good when I get to carve out some time and put thoughts, ideas, randomness, photos, and info down here.

And it feels really good to know that when I check my stats page and see that most people find their way here by googling dwarfism in babies, achondroplasia blogs, or something along those lines… well I’m glad I’m here. And I’m glad you’ve found me :)

I have a few things that I wanted to give some space and time to. I didn’t make a big splash about Dwarfism Awareness Month on the blog, but I got a few things posted (virtual pat on the back!). We did a local story with one of the newspapers last month, and we’ve had amazing feedback from our community. “Declan sightings” are becoming more frequent. But it’s always positive. People have nothing but good things to say. Loving it.

photo 1(3) photo 2(3)

You can find the online version of the story here: They’re Small, That’s All.

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More exciting news!

Little People of BC is a finalist again this year for Phillips Annual Benefit Brew! YAY! Voting started yesterday, and you can vote once/day until November 16th! There has never been an easier online contest to participate in. No need to register for anything, no ‘liking’ anything. JUST ONE CLICK! So simple.. but it could mean so much.

Please follow this link and vote for Little People of BC. I will blog more about this contest very soon, but I wanted to get the word out now :)

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Lost In Translation

If this kid could talk.

“May-me, may-me” he said over and over.

Usually that means “baby”. But he seems to think the very few words that come out of his mouth have many more meanings than that. He was lying on the change table this afternoon. He didn’t want me to touch or lift his legs. When I went to touch his hips, he almost jumped off the table. And then came the “may-me, may-me”. And me asking “What’s wrong, Dec? Does something hurt?”

“May-me, may-me”, as he winces. (In pain? I don’t know). Looking at me with those pleading eyes. “May-me, may-me”.

It reminded me of the moment after he was born. I knew from an ultrasound (just hours earlier) that something might be wrong. As soon as he was free from my body, the first thing out of his mouth was cries. The first thing out of my mouth was…”Is he okay, is he okay?” I thought he might be in pain. I didn’t know what might be wrong. I didn’t know anything at all. I just wanted him to be okay. And I didn’t want him to be in pain.

I’ve noticed recently that when he is wearing his shoes, his left foot turns in a bit when he walks. It doesn’t seem to do that when he’s not wearing shoes. And for him to be “fussy” during his diaper change is very unlike him. Something is up. This is such a tricky age, when he desperately wants to communicate something to me, but it’s lost in translation. I will be calling his pediatrician and/or orthopedic specialist first thing Tuesday morning. (Monday is a holiday here in Canada…our Thanksgiving!).


Recent Instagram photos

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On Support… and a Quilt.

I’d like to talk about LPBC for a minute.

Little People of BC is a not-for-profit organization for children and adults with a growth disorder or dwarfism. LPBC provides social, emotional, and educational support to the membership and their families; educates the general public about short stature; provides a medical board knowledgeable about short stature; and refers members to various community services and government agencies for additional support.

To me… they were the first tangible dwarfism-related resource and support to me after I had Declan. Everything else was kind of ‘out there’ on the Internet (which, has still been fabulous). But they were here. Close to me. That was a big difference, especially at first. Before I knew it I had a big package arrive at my house filled with local information (local being specific to my province). There were people who knew what doctors to see and what tests are usually done (and where). There were people who had open arms and hearts and could see their little one in mine. An instant second family.

Providing this support comes with a cost. As a non-profit organization, we run pretty much on fumes. In order to support new families, like I once was, getting new information packages out to them, supporting members who might be in the hospital having tests and surgeries, hosting social gatherings to foster relationships and bring members together that are spread across the province… it all comes with a cost.

We are currently doing a fundraiser. One of our young member’s grandmothers has made a beautiful quilt that we are raffling off. The front is black and white and the back has hand prints of many of LPBC’s members. Tickets are being sold right now, until the end of November. At the annual LPBC holiday party on November 30th, we will draw the winner.

Raffle tickets are $1.00. Yes, only $1.00!

I can’t tell you how invaluable it has been to connect with this group. To receive that initial information package that my whole family has benefited from. To be able to meet and socialize with other POLPs, for my daughter to get to know people of all different ages (and sizes), and most importantly for Declan. For Declan to grow up with these friends and mentors is, and will be, so, so important.

If you are interested in buying a raffle ticket (or 10 ;) ), please connect with me, and I will find a way to make it happen.


Doing the hand prints at the LPBC AGM last May

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