A couple weeks ago I received some news about both my missions. I have not written about it because it makes me angry to think about it, plus my computer was broken for a couple of weeks so I really haven't had the opportunity to write.
So here is the scoop....
At the beginning of April I received a phone call from the genetics counselor saying that the insurance company approved the exome sequencing test. This test is the mother of all genetic tests. It looks at every single one of her genes. It would be able to tell us if she has PCH and what type. It would look at multiple mitochondrial disorders to see if we can actually give a name to the mito disease that she has. I was beyond excited! I worked so hard to get this test approved. I pushed and begged and proved why this test would be useful for my baby to have.
However, since this test looked at ALL of her genes it could also tell us things about her genetic makeup that we may or may not want to know. It will also tell us stuff about our family because it not only tests Sadie's blood, but my husbands, myself and the 2 other girls. So we needed to make an appt to actually go into the office and sign the consent for the test and go over everything.
The week of the appt I get a phone call from the genetics office saying that the exome sequencing test the was originally approved was "taken back" last minute. They no longer are willing to pay for the test. I literally felt like I was hit in the gut with a wrecking ball. I wanted to scream at the top of my lungs. I cried... a lot. How can they do that? I had so much hope to find out more answers about this innocent, precious little girl. She deserves to find out answers about herself. She has the right to find out more so that we can have some sort of a "road map" for a future. To know what we are looking for so that we can catch things right away and possibly fix it or slow down that particular issue before it possibly gets out of control. Just because her disorder doesn't have a cure, doesn't mean we don't have a right to know what we are dealing with.
Of course I asked "why?" This was the reason I was given. "They (the insurance company) feels like they have already exhausted all the tests that they feel need to be done and would be helpful in Sadie's case. They don't feel that finding a clearer diagnosis could lead to a cure or impact Sadie's life at all". Well guess what? They are full of crap! The genetic blood tests that have been run on her are the basic genetic testing. They check for all the major, well known disorders. They look at the chromosomes themselves and decide if they look like they are supposed to look. Yes, all these tests have been normal and have come out just fine. However, we all know that Sadie is far from the norm. She needs the tests run that check for the rare disorders, the rare genes. We have never even checked for disorders that deal specifically with her brain malformations (which is where finding out the type of PCH she has comes in). We haven't even looked at the multiple mito disorders. Yes, we finally got a mito muscle biopsy, that says she is making too much mitochondria but it doesn't give us a specific diagnosis. So how can they say they have exhausted all the tests?
I'll tell you why they say this, because all the insurance company is worried about is money. This test is expensive, I get that. But if we were to order all the tests that we want run individually it would cost at least 5 times more then what this one test costs. This is the most cost effective test that will give us multiple answers. But they don't care about finding answers, they don't care about my daughter. How do they know that it won't tell us that she has a perticular disorder that does have a treatment? They only care about money. And that sucks!
The genetic Dr. is still trying to get it approved. She said she has one more trick up her sleeve, after that we will have to back off for awhile until we can come up with more reasons to have the test run or maybe the mito Dr that we are seeing in August might have an idea on how to get the test covered. I almost exploded when they told me all this. I'm pretty sure I had smoke coming out of my ears and my head was literally spinning in a circle like you see on cartoons.
Guess what? If they think they have heard the end from me, they are severely mistaken. I will fight for the rest of my life and her life. All that this denial has done has gotten me mad. In fact, I have already come up with a plan. It is is extremely out there, going out on a very thin limb, and it will be going over a lot of peoples heads and stepping on toes but I gotta do what I gotta do. As things unfold, I will keep y'all updated.
So here is the scoop....
At the beginning of April I received a phone call from the genetics counselor saying that the insurance company approved the exome sequencing test. This test is the mother of all genetic tests. It looks at every single one of her genes. It would be able to tell us if she has PCH and what type. It would look at multiple mitochondrial disorders to see if we can actually give a name to the mito disease that she has. I was beyond excited! I worked so hard to get this test approved. I pushed and begged and proved why this test would be useful for my baby to have.
However, since this test looked at ALL of her genes it could also tell us things about her genetic makeup that we may or may not want to know. It will also tell us stuff about our family because it not only tests Sadie's blood, but my husbands, myself and the 2 other girls. So we needed to make an appt to actually go into the office and sign the consent for the test and go over everything.
The week of the appt I get a phone call from the genetics office saying that the exome sequencing test the was originally approved was "taken back" last minute. They no longer are willing to pay for the test. I literally felt like I was hit in the gut with a wrecking ball. I wanted to scream at the top of my lungs. I cried... a lot. How can they do that? I had so much hope to find out more answers about this innocent, precious little girl. She deserves to find out answers about herself. She has the right to find out more so that we can have some sort of a "road map" for a future. To know what we are looking for so that we can catch things right away and possibly fix it or slow down that particular issue before it possibly gets out of control. Just because her disorder doesn't have a cure, doesn't mean we don't have a right to know what we are dealing with.
Of course I asked "why?" This was the reason I was given. "They (the insurance company) feels like they have already exhausted all the tests that they feel need to be done and would be helpful in Sadie's case. They don't feel that finding a clearer diagnosis could lead to a cure or impact Sadie's life at all". Well guess what? They are full of crap! The genetic blood tests that have been run on her are the basic genetic testing. They check for all the major, well known disorders. They look at the chromosomes themselves and decide if they look like they are supposed to look. Yes, all these tests have been normal and have come out just fine. However, we all know that Sadie is far from the norm. She needs the tests run that check for the rare disorders, the rare genes. We have never even checked for disorders that deal specifically with her brain malformations (which is where finding out the type of PCH she has comes in). We haven't even looked at the multiple mito disorders. Yes, we finally got a mito muscle biopsy, that says she is making too much mitochondria but it doesn't give us a specific diagnosis. So how can they say they have exhausted all the tests?
I'll tell you why they say this, because all the insurance company is worried about is money. This test is expensive, I get that. But if we were to order all the tests that we want run individually it would cost at least 5 times more then what this one test costs. This is the most cost effective test that will give us multiple answers. But they don't care about finding answers, they don't care about my daughter. How do they know that it won't tell us that she has a perticular disorder that does have a treatment? They only care about money. And that sucks!
The genetic Dr. is still trying to get it approved. She said she has one more trick up her sleeve, after that we will have to back off for awhile until we can come up with more reasons to have the test run or maybe the mito Dr that we are seeing in August might have an idea on how to get the test covered. I almost exploded when they told me all this. I'm pretty sure I had smoke coming out of my ears and my head was literally spinning in a circle like you see on cartoons.
Guess what? If they think they have heard the end from me, they are severely mistaken. I will fight for the rest of my life and her life. All that this denial has done has gotten me mad. In fact, I have already come up with a plan. It is is extremely out there, going out on a very thin limb, and it will be going over a lot of peoples heads and stepping on toes but I gotta do what I gotta do. As things unfold, I will keep y'all updated.
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