Official diagnosis
Wait for it. Wait for it. Wait. Keep waiting.
Yup, you're in the same boat as us. Officially nobody has a clue what is going on with Rambo genetically. Therefore, we have titled it 'Rambocitis'. You'll see it in the books one day.
We met with the geneticist yesterday and left with as much information as we came with. Rambo is genetically questionable. I'm not even sure he's a real human. As cool as you might think it is to have something no one else has, let me tell you - it is not that cool. We can definitely say that Rambo is unique to the core. The doctor said that it is not unusual to not have a name for certain genetic problems. However, the fact that so many areas and systems of his body are affected and we still don't know what it is is very unusual. Even his eyes have unique optic nerves. In fact, there is a name for something similar to what he has, but of course he can't have that. No, he has to be just different enough to make it difficult. I guess when we saw the opthamologist last month I should have been clued in when several different doctors wanted to be there when the specialist looked at him. But still, I just assumed it was something rare not something they'd never seen before. His liver is also unique. It has always been large and they could never identify why but it apparently also feels different than other livers of children who have similar heart issues. The geneticist said that he might ask us to be part of a research program but there is no point right now since there is no one to compare him to. They have all the information from him that they can get at this point.
So we are back to square one. Actually, I guess we've never really moved on to square two or three. There will hopefully be a new chromosomal test out within the next year that will possibly give us some answers. I'm not counting on it. And the geneticist feels pretty confident that within 5 years we will have this identified and defined. I'm not counting on that either. He continues to have trouble with his lungs and they don't know why. He continues to get infections. But he is growing and learning. And he literally has the cutest smile in the entire world. So we keep on keepin' on.
I do have to admit that it might have been nice had his uniqueness not been so thoroughly thorough. But who knows, maybe he will be the key to completing the process of cold fusion. One can always hope.
Yup, you're in the same boat as us. Officially nobody has a clue what is going on with Rambo genetically. Therefore, we have titled it 'Rambocitis'. You'll see it in the books one day.
We met with the geneticist yesterday and left with as much information as we came with. Rambo is genetically questionable. I'm not even sure he's a real human. As cool as you might think it is to have something no one else has, let me tell you - it is not that cool. We can definitely say that Rambo is unique to the core. The doctor said that it is not unusual to not have a name for certain genetic problems. However, the fact that so many areas and systems of his body are affected and we still don't know what it is is very unusual. Even his eyes have unique optic nerves. In fact, there is a name for something similar to what he has, but of course he can't have that. No, he has to be just different enough to make it difficult. I guess when we saw the opthamologist last month I should have been clued in when several different doctors wanted to be there when the specialist looked at him. But still, I just assumed it was something rare not something they'd never seen before. His liver is also unique. It has always been large and they could never identify why but it apparently also feels different than other livers of children who have similar heart issues. The geneticist said that he might ask us to be part of a research program but there is no point right now since there is no one to compare him to. They have all the information from him that they can get at this point.
So we are back to square one. Actually, I guess we've never really moved on to square two or three. There will hopefully be a new chromosomal test out within the next year that will possibly give us some answers. I'm not counting on it. And the geneticist feels pretty confident that within 5 years we will have this identified and defined. I'm not counting on that either. He continues to have trouble with his lungs and they don't know why. He continues to get infections. But he is growing and learning. And he literally has the cutest smile in the entire world. So we keep on keepin' on.
I do have to admit that it might have been nice had his uniqueness not been so thoroughly thorough. But who knows, maybe he will be the key to completing the process of cold fusion. One can always hope.
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