In October of last year Mabel underwent a surgery to have her g-tube placed. At the same time the Dr. took a part of her muscle in what's called a 'muscle biopsy' that would be used primarily in the testing for mitochondrial disease. She now has a pretty substantial scar in the thigh of that leg right up there^.
It took 3-4 months to get the results of the biopsy which were all [of course]
There were 'rare findings in every mitochondria' but nothing that they have seen before so they aren't sure if it's "disease-causing."
Going into testing for mito we were always told that we could never completely rule out this devastating disease because there were just too many genes that hadn't been discovered yet. There were just too many unknowns about the disease. At the time, when testing, they were viewing about 400 genes in association with mito.
As of yesterday, a statement was released that in about 6 months there will be a new way of testing for Mito. Now they will use a blood or baccal swab to detect close to 22,000 genes rather than the 400! In other words, Baylor University and 2 others will be doing a whole genome sequence (the test that we are fighting hard for Mabel to have right now!) in order to detect the underlying cause of diseases rather than just treating the symptoms.
The fact that this test will be the available option for testing mitochondrial disease will be huge for families like ours who are still undiagnosed. While testing for mito, they could discover new genes, mutations in unknown genes, and even diagnose people with something completely different. This is very intricate and after extremely lengthy conversations with our geneticist I understand that it can sometimes work wonderfully and sometimes not so much.
For many families, it will work and possibly provide a cure for mito and other diseases in our lifetime-at least that's the hope!
The whole genome sequencing is a very expensive set of tests. It isn't something that most places offer. It has been going on for some time but almost 'under the radar' according to our doc but researches have been hesitant. We're hoping though that it will be the cutting edge testing in genetics soon because that would mean detection, prevention, and freedom for many people's lives. Also, the more common it becomes the less expensive it will be.
As of now our doctor would have to really believe that it would work for Mabel in order to sort of 'stick his nose out' to the insurance company. The politics behind the testing is discouraging but if we can get it approved for Mabel we could still have to pay a great deal out of pocked for the tests. I have friends who have paid absolutely nothing and friends who have paid thousands. It all depends. Of course we are willing to pay anything! We just need the go ahead in order to see where we stand.
As of now we have about 10 different vials of blood out around the country for tests that need to be ran before we try anything further with the genome sequencing. We meet with our doctor again in the fall and are hoping that by then we will know our next step.
This morning I woke up feeling hopeful. Our daughter may not have mitochondrial disease. She may have a rare, undiscovered mutation and a brand new syndrome. We don't know.
And that's the whole point.
We don't know.
So we will do whatever we can until we do. Mabel may lead another family to the answers they are needing. She may provide a new insight to researchers who could develop a whole new test for families with similar symptoms as our girl.
For other families, for our other children-we will not just give up. It isn't quite time...
Thankful today for researches who haven't given up.
Doctors who continue to fight for families like ours.
People who lived with disease and sacrificed themselves to research in order to find cures.
It's all so important and none of it is taken for granted.
Hope is on the horizon!