Monday, February 7, 2011

Dwarfism is not just about being short

When I talk about Maddy's condition to other people, one of the most common miss-perceptions that people seem to have is that they think that dwarfism is just someone who is extraordinarily short. If I look back a year, I may have thought the same. I don't know what I thought really, I guess I had never thought about it much at all. And I guess probably also many people reading this blog haven't either. I know that most of the people I know have never met someone with dwarfism before, and those people who DO know someone with dwarfism probably met me through Maddy's dwarfism so that doesn't really count ;) 

There are many, many kinds of dwarfism and each of them have their own serious complications. The most common form, Achondroplasia, not uncommonly leads to life-threatening brain stem compression requiring emergency brain surgery at a young age. Cartilage Hair Hypoplasia (the form of dwarfism that Verne Troyer, best known for playing Mini-Me in the Austin Powers movies, has) leads to immunodeficiencies sometimes needing a bone marrow transplant. Osteogenesis Imperfecta leads to reduced bone density that means that people suffering from this disease can have hundreds of breaks in their childhood. All of these things are extremely serious conditions - but yet when most people think of dwarfism, they usually have no idea about these complications. 

One of the most severe complications of Diastrophic Dysplasia is probably the possibility of cervical spine issues. If there is neck instability or severe curvature, damage to the spinal cord can occur at a very high location, possibly leading to paralysis or even death. If these issues are detected, spinal fusion is often necessary to prevent damage to the spinal cord, but that is not a surgery without serious risk. So far, Maddy's neck looks good so fingers crossed, we can dodge that one.

There are other complications with DD that we cannot avoid, and one such issue is very early degeneration of the joints, much like arthritis. One of my friends who has a five year old with DD was recently told that his hips look like the hips of a sixty year old with arthritis - but you can't just do a complete hip replacement on a five year old. He is in pain because of his joints. 

Because of the issues with their joints, most kids with DD need an electric scooter or a wheelchair to help with mobility. They can walk a bit - but they can't walk for a whole day at the mall or go hiking up a mountain or anything like that. Some people with DD could never walk independently, although they do manage to get around for a long time with crutches or walkers. With the knowledge that a wheelchair is probably inevitable for most people with DD sooner or later, it can be a hard thing to know when to encourage the little ones to get around by themselves and when to encourage them to use a mobility device. In the words of one of my DD mum friends, We thought it best to "save" some steps now so that she would be able to use them "later".

A side issue to this is, a wheelchair is NOT a horrible thing. For people who need wheelchairs, it gives them so much more independence than they could have without it. Most kids with wheelchairs love their new-found freedom and think their wheelchair is the coolest thing in the world! So if Maddy does end up needing a wheelchair, it's not something that people should feel sorry for her about, it will be like a new shiny bike or scooter to her and I know already that if it comes to that, she will love her chair! So don't feel sorry for us ;)

There are things that you can do to help with the joint issues - stretching, therapies, swimming is a great exercise since it doesn't involve any weight-bearing (I'm planning on starting Maddy on swimming lessons soon). Some of my DD mum friends recommend various supplements such as omega 3 and glucosamine helpful. My dad suffers from arthritis and also finds these to be helpful for him as well.

Recently, I've had a few questions/comments about "How is Maddy recovering?" and "I'm sure that everything will be normal and that she'll grow out of it", etc. Things like this completely floor me and I have no idea how to respond to it! (any suggestions??) For one, this is not something that Maddy will grow out of, and Maddy will not "recover" from it. Instead she will need to learn to adapt. Some people can't seem to process that Maddy will have long-term implications that will need to be monitored for the rest of her life, and want to "normalise" her condition by saying "Oh I knew someone extremely short once" or something of the kind. Maddy will never be just like everyone else (not even a very short person), but that doesn't mean that her future is bleak.

It's hard to explain Maddy's health to others - on the day to day aspects, she is extremely healthy and has been ever since she was two weeks old. Even when she was in NICU, she was as healthy as a horse. She's had colds being Winter and all, but she handles them fabulously - probably even better than Lana did at the same age. Some people have the misunderstanding that she is or was sick but that hasn't been the case. Yes there are things that are less than ideal in her little body but really, they are "structural" things and so far, she functions fine with them as they are.

Yet in spite of this, there are long-term issues for Maddy that we will need to continually monitor. No one can say yet exactly how everything will end up for her, so we will keep an eye on the issues that she does have and hope for the best. Whether or not she needs a wheelchair, whether or not she does develop issues with her cervical spine and needs spinal fusion. All these issues are so much greater than how tall she will be. And I hope and pray that whatever happens with the "structural" aspects of Maddy's unique little body, that she will always be as healthy and as happy as she has been for the past six months :)


  1. Thanks for all that info and your right about not really knowing what this condition can cause. ,I am one of those people who know very little about it. I love the bath tub pic so adorable!

  2. Love the cute bathtub photo--Maddy looks so tiny next to her grown-up sister-- but it's almost like you have two different-sized versions of the same kiddo--kind of like nesting dolls! So very cute! They look a lot alike to me. Again, so cute!

  3. This post made me think of another realization I had several years ago about another disease - diabetes. I used to think that having diabetes meant you just couldn't eat certain foods and you took a shot of incilin every day, no big deal. That is until a 5 year old from our church was diagnosed that I've seen the heartbreaking things she endures and how often she's been in ICU because of it.

    I used to think that having drawfism meant you were short. I didn't really know of other things until "Little People Big World" and now with Maddy's situation. Thank you for educating us =)

  4. Just wanted to say that both your girls are beautiful. I love DD babies, but then I was one once myself :) I totally love your outlook on how not to feel sorry for Maddy when the time comes for her to get a wheelchair. That it's like a new bike or scooter. That is just so true. I am a 43 old DD wife/mother and my scooter makes me more independent and a much happier person. I enjoy reading your blog and I wish you and your family the best.

  5. Thanks for sharing!
    After reading about the cervical spine issue in DD childen, I'm wondering if jumping on the couch as Kai (Maddy's friend) does could be dangerous for his neck...
    Sorry for my bad English.


  6. Liseli - I'm sure that Kai's parents have had multiple x-rays done on his neck and that his neck is stable. If his neck had an instability, he probably would need to wear a neck brace all the time - and if he had an instability, you're right, he maybe shouldn't be jumping on the couch ;)

  7. thank you for your comment on my blog! Your girls are both so adorable! I think you've raised a lot of awareness with this post - and you're right - most people probably don't realize those other complications or issues that can go along w/dwarfism, or that there were even different types. I think its the same for most diagnosis, unless you're not close with someone with the condition you just don't know much about it. Ever since Kayla was born I have learned so much more about Down syndrome, but also other chromosome disorders ets. Its really opened my eyes.

    I think when people ask you those questions about recovering and growing out of it, you should answer them matter of factly - just like you said in this post. Just explain that the condition she has is one she'll have for life and is not something to grow out of or recover from.

  8. Michlle - I think part of my frustration is that some of the people who ask about Maddy recovering are people who SHOULD know better, people who I've explained it to over and over but can't seem to accept it. I don't mind explaining to people who have no idea about it - but explaining to people who seem to never understand is frustrating!