Friday, August 27, 2010


Today, Bernard and I had an appointment to see the geneticist to discuss the results from our genetics tests. We already knew that we were both carriers, and that Maddy obviously inherited both of our "bad" genes and that match resulted in her having Diastrophic Dysplasia. What we didn't know were the specifics of it all.

It turns out that my mutation is the most common mutation for Diastrophic Dysplasia outside of the Finnish population. Diastrophic Dysplasia has a much higher rate of occurrence in Finland, but the Finnish population usually have one specific mutation that is not seen as frequently in non Finnish populations. Bernard, on the other hand, has a mutation that has never been reported in the literature before. 

It's funny, me being a bit of a Science-nerd took Genetics in university and was quite fascinated by it all. When Bernard and I started dating and then got engaged and married, I remember joking to someone (probably another nerd like myself!) "At least with marrying inter-culturally, I know that my chances of having any recessive genetic diseases are reduced!!" - and usually that is the case. A lot of genetic diseases have higher rates of occurrence in specific people groups, for example DD in the Finnish, and also Thalassemia is very common in Hong Kong and South Asia (in the Maldives, a whopping 16% of the population are carriers!), so when you marry inter-racially, your odds of carrying the same mutations as your spouse are lower than if you married someone of your own race.

The science-nerd in me actually got a bit fascinated and intrigued by the results of the genetic tests, particularly with Bernard having a previously unknown mutation. It is possible that for Bernard it may have been a spontaneous mutation, or he may have inherited his mutation from one of his parents. The geneticist also seemed to be "excited" by the results of the tests (if you can be "excited" by genetic diseases, that is) - and he, along with the head pediatrician, are going to write a paper for a scientific journal about Maddy's case.

If you were to guess whether or not Bernard and I were likely to be carriers for the same genetic disease, no one would guess that it would be likely. But it just so happens that Bernard's previously unknown mutation happens right on the same gene as the one for DD, which I'm a carrier of. Bernard's been joking that we've been "breaking the odds" and we really have. Some would look at it and say it was really bad luck - and in some ways maybe it was... but I still believe that there's some kind of plan and purpose in all of this, and especially now knowing how incredibly unlikely it was, it seems to me like it was too unlikely NOT to be part of God's plan somehow.


  1. I'm a bit of a science nerd myself. I do find it fascinating how things match up and their results. For achondroplasia in our case was a spontaneous mutation. I truly look at it as God selecting us to have a special child and I've never felt so blessed as to have Nate and our daughter.

  2. I don't really know what to say except that I am so happy that God gave you a special child, because you and Bernard are the perfect couple to look after her. Hang in there, although we don't really know each other well, you have my full support and if you need anything, just ask :)

  3. Hi Nicole (: I have often struggled with whether Evie is Evie with a "bad" gene, or whether she is exactly how God intended her to be, and how I would someday explain that to her. I firmly believe that Evie is exactly who God wants her to be, and the fact that John and I both happen to be 1 in 300 people who carry a recessive gene is no mistake. Your beautiful girl will make a difference in this world BECAUSE she is different. She will have a platform to change lives that not many of us have. She is fearfully and wonderfully made (: Love to you all.