The Biggest Question

The biggest and most often asked question I get is am I angry with the medical community. I am not, but I am completely disenchanted with the medical community, that's for sure. I thought we (we begin the medical community) knew a WHOLE lot more than we actually do. Not just with the Canavan but as I delve deeper into this realm of genetic issues, I am coming across a large amount of parents with children that have all sorts of difficulties and challenges that the medical community knows that is caused by genetic mutations, duplications, and deletions, but they don't know what to do about it and can only guess what the out come will be. Once upon a time I believe the medical community could fix just about anything. Now that fairy tale is long gone.

Many people say to me, don't accept I don't know from the medical community. I think I am growing a bit frustrated with this misguided but well meaning advice. As I tell my husband, the medical community only knows what it knows. I certainly don't want them just making things up and I much more respect a doctor that will look at me and say I don't know as opposed to one that tried to hide his/her lack of knowledge by spouting a bunch of medical terms and making up nonsense.

I think it's best to keep in mind that I don't know is not the answer they want to give to us. But right now it's the only one they have.

In June we are going to NY to the Canavan Research and Family Conference.  I am really looking forward to this and hope that maybe we will get some more answers about the mild variant of Canavan. It's very hard to find any info online about the mild form of Canavan but until recently it has largely went undiagnosed. This is one of the reasons that all they can say about what is going to happen to Lily is they don't know. This is a new and emerging diagnosis, so not much is known about the mild variation. I am very interested to see in the next 10 years how many children are diagnosed with this mild variant of Canavan.

Oh and here is an interesting tidbit for you......I may have said it before but I can't remember so I am going to say it again.........counting Lily all the children that know of in the USA that have been diagnosed with this mild variant of Canavan are all girls. Now whether that is because boys that have this mild variant are being misdiagnosed with other things or if boys aren't capable of having just the mild variant I don't know but I am leaning more towards misdiagnosed as something else.

And speaking along these lines........CJ just recently was tested for NAA in his urine. Now those of you who know us know that CJ  doesn't have seizures are anything like that at all. Lily however was also symptom free until having the seizures and still that is the only issue at this point in time. Due to that, Lily's Geneticist felt it was a good idea to have him tested. So now we wait. If he does come back with NAA in his urine it will make it easier for us to get the genetic testing for Canavan done. However, if not than we are going to have all kinds of red tape to go through to get his testing done. Good times!