All about Diastrophic Dysplasia

I was talking to my brother the other day and he said to me "You should post more information on your blog about Diastrophic Dysplasia so that people can understand more exactly what it is" - so that's what I'm going to do in this post.

There are a lot of great resources on the web that have helped me to learn about DD and what it is. I'm going to add some of the most helpful of them to my resources page so if you want more detailed information, you can read them. Another great resource has been blogs of other people - my favourite is probably that of little Grant. Grant is about the same age as Lana and has Diastrophic Dysplasia. His mum has been such a support to me since I first emailed her a few months ago and I'm so grateful for her!! 

So to be simple, Diastrophic Dysplasia is a type of dwarfism. Apparently the third most common non-lethal type. The rate of occurrence is 1 in 500,000 births. The term "diastrophic" means "twisted" and it refers to how in this form of dwarfism, there's a lot of "twisting" of the bones and joints. Things like scoliosis and other curvatures of the spine, also quite frequently dislocations are involved at the hips, elbows or shoulders. One very typical feature is the hitch hiker's thumb. It was this feature that initially caused me to think that maybe our girl had DD. Below is a photo of a newborn with DD's hand, next to our ultrasound photo from 17 weeks.

Other complications involve clubbed feet - or feet where the heels cannot be placed on the floor when standing. This can range in severity and from the ultrasound, it doesn't appear to be a serious concern in our daughter's case. Below is a picture of typical club feet.

Another very typical feature is cauliflower ears - in about 85% of cases, when the baby is just a few weeks old, the ears will begin to swell and if left untreated, they will end up scarred and misshapen. The current school of thought is to use compression bandages on the ears for a couple of weeks until the swelling subsides, and the result when healed will be much less scarred.

Around 50% of babies with DD will have a cleft palate. We tried to look for one in our baby on the ultrasound but it was not visible. We're praying that she will not have a cleft palate as that can complicate breastfeeding.

As the child ages, the joints degenerate faster than usual and mobility can become a problem. Many adults with DD need to use some form of aid for walking - whether a wheelchair, crutches, or a walking frame. 

There will be physical delays for a child with DD, although mentally the child is completely normal. Things like surgeries or foot/leg/hip casts can further delay these milestones.

Here are some facts about DD:

• Average newborn length is either 33cm or 42cm depending on which website I believe ;) 
• Average adult height is around 118cm but can vary greatly
• The most well-known person with DD is probably Matt Roloff from "Little People Big World" (pictured to the right)
• DD has a much higher occurrence in Finland - there, the rate is 1 in 30,000 births as opposed to 1 in 500,000 in the US. It's estimated that up to 2% of Finland's population are carriers of the DD gene.

I was going to post some pictures of people with DD but for copyright reasons I can't post them on this blog. This site has some wonderful pictures of people of all ages with Diastrophic Dysplasia so if you like, you can go check it out. It's a wonderful site with lots of information and has been excellent in helping me to understand this condition better.

I hope this helps to explain a bit better the most likely condition that our daughter has. We'll have to wait and see if it is or not - but there's never any harm in learning more about things like this. I know that regardless of what happens, I've learnt a lot from this journey. A lot about myself and about other people - and although it's been difficult, I'm thankful for that opportunity.