Major correction
There is something I want to follow up on from the post I wrote on April 14 titled And now we have a diagnosis.
I talked about our experience in the geneticist's office when he explained to us that Josie has foxg1. There was something he said to us that made the walls of his office close in and left us questioning how we could get through our days. After he told us the pretty dismal prognosis for a life with foxg1, I asked the elephant-in-the-room question: what is the lifespan?
He said "teens" with a shrug, as if that's hopeful.
That was when we asked him to give us some time alone.
I won't get into the emotions and thoughts that overwhelmed us at that time and made the next few weeks very hard to bear.
But, a few weeks later I spoke on the phone with Dr. Paciorkowski who is one of the three doctors doing research on fox1. He is Senior Instructor of Neurology, Pediatrics, and Biomedical Genetics at the University of Rochester Medical Center and he has seen at least 30 foxg1 families at the time of our call.
Of course, I had and still have so many questions for him. And he had answers or points of discussion for every one.
I told him I've basically gotten the worst prognosis a parent can get.
He said, "What do you mean? What were you told?"
I said, "That the lifespan is teens - at best. How do parents handle this?" I probably started to ramble about my fear of watching her suffer; the years we will try anything to help her while knowing in the back of our minds that...
He stopped me.
He said, "that isn't true."
I didn't say a word.
He went on to explain that there is not a single case of a foxg1 person with a shortened lifespan. Our geneticist, who is probably one of the best in the world, had very little information about foxg1 when he met with us. There were only 30 known at that time and Josie is the first foxg1 case he has seen. He was reading information about Rett Syndrome because foxg1 was, up until recently, called Congenital Rett Syndrome. The two conditions have many similarities, but significant differences too. Dr. p told me that one difference is that Rett children (usually girls) can also have a heart abnormality, that is not the case with foxg1. The NIH has actually removed the Rett reference from foxg1 and it is now a stand-alone condition.
The heaviest weight was lifted off of me. The pit in my stomach was filled. My breath came back to my lungs. To be stripped of the positivity, which is the nature of my being, was incomprehensible. Dr. P. gave me back my ability to lose the fear and stay focused on everything Josie can do one day.
I don't blame Dr. Iglesias. I realize he had very limited information to review in the short period of time from when he got the test results and we entered his office to hear them.
I'm writing this story because while talking with my sister this summer and telling her how I felt in those few weeks, she looked at me and said, "You never told me the new prognosis!" Oh my gosh! I was in such a whirlwind and a fog, and although we talk all the time, somehow I didn't tell her the most important news to know! Who else did I or didn't I tell?! I'm so sorry, Jenny!
Well, the point is - there is no limit to what Josie can do. It may be harder for her to reach certain goals and she may have a long way to go, but as a friend recently reminded me, she has a long way to get there.
I talked about our experience in the geneticist's office when he explained to us that Josie has foxg1. There was something he said to us that made the walls of his office close in and left us questioning how we could get through our days. After he told us the pretty dismal prognosis for a life with foxg1, I asked the elephant-in-the-room question: what is the lifespan?
He said "teens" with a shrug, as if that's hopeful.
That was when we asked him to give us some time alone.
I won't get into the emotions and thoughts that overwhelmed us at that time and made the next few weeks very hard to bear.
But, a few weeks later I spoke on the phone with Dr. Paciorkowski who is one of the three doctors doing research on fox1. He is Senior Instructor of Neurology, Pediatrics, and Biomedical Genetics at the University of Rochester Medical Center and he has seen at least 30 foxg1 families at the time of our call.
Of course, I had and still have so many questions for him. And he had answers or points of discussion for every one.
I told him I've basically gotten the worst prognosis a parent can get.
He said, "What do you mean? What were you told?"
I said, "That the lifespan is teens - at best. How do parents handle this?" I probably started to ramble about my fear of watching her suffer; the years we will try anything to help her while knowing in the back of our minds that...
He stopped me.
He said, "that isn't true."
I didn't say a word.
He went on to explain that there is not a single case of a foxg1 person with a shortened lifespan. Our geneticist, who is probably one of the best in the world, had very little information about foxg1 when he met with us. There were only 30 known at that time and Josie is the first foxg1 case he has seen. He was reading information about Rett Syndrome because foxg1 was, up until recently, called Congenital Rett Syndrome. The two conditions have many similarities, but significant differences too. Dr. p told me that one difference is that Rett children (usually girls) can also have a heart abnormality, that is not the case with foxg1. The NIH has actually removed the Rett reference from foxg1 and it is now a stand-alone condition.
The heaviest weight was lifted off of me. The pit in my stomach was filled. My breath came back to my lungs. To be stripped of the positivity, which is the nature of my being, was incomprehensible. Dr. P. gave me back my ability to lose the fear and stay focused on everything Josie can do one day.
I don't blame Dr. Iglesias. I realize he had very limited information to review in the short period of time from when he got the test results and we entered his office to hear them.
I'm writing this story because while talking with my sister this summer and telling her how I felt in those few weeks, she looked at me and said, "You never told me the new prognosis!" Oh my gosh! I was in such a whirlwind and a fog, and although we talk all the time, somehow I didn't tell her the most important news to know! Who else did I or didn't I tell?! I'm so sorry, Jenny!
Well, the point is - there is no limit to what Josie can do. It may be harder for her to reach certain goals and she may have a long way to go, but as a friend recently reminded me, she has a long way to get there.
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