On April 8th I got the call we have been waiting for since November. Katie, from Dr. Iglesias' office (the Geneticist at Columbia), asked "Is now a good time?" I said "yes." I think I held my breath in those few seconds between my apprehensive "yes" and her telling me the "gene mutation we found in Joise is..."
She explained that Josie has something called Congenital Rett Syndrome. No, that can't be it, Josie was tested for Rett Syndrome a year ago.
But this is Congenital variant of Rett Syndrome and is caused by a different gene than the MECP2 gene that is responsible for about 90% of all Rett Syndrome cases. Josie has a mutation on her FOXg1 gene. There is a significant difference. Most Rett Syndrome children develop quite well until about 18 months, but the word Congenital, which comes with the FOXg1 variant, means it started at birth.
From the evening of April 8th until our appointment with Dr. Iglesias on April 10th, I read everything I could about Rett Syndrome. While I felt devastated and deflated of the hope that no-diagnosis provided, I took some comfort in a few things: Retts isn't that rare; it's one in every 10,000 to 20,000. The foundation, the IRSF, is very well established and the research has come a long way; they're in Phase Two of some clinical trials. The community through the IRSF is tremendous. I felt comforted by being amongst a large group of parents.
That quickly changed when we sat down in Dr. Iglesias' office. Josie's disorder could not be more rare. She has a form of Retts, yes, but FOXg1 is different, there are 93 known children with it in the world.
The International Fox Foundation is the community, the foundation, of children just like Josie. Actually, I can't say "just like." Josie's mutation was caused by a misspelling not a deletion. Basically that means that two letters in the gene code were flip-flopped. And of the 93 kids with FOXg1, known to the IFF worldwide at this point, so far, we only know of one other with the same gene mutation.
Rich and I are not carriers. She didn't get this from us, she likely created it herself at conception. It's possible it was in either the egg or the sperm and that is why it wasn't found in our genome tests, but it is more likely that it started within Josie. Genetic disorders have to start somewhere. And it is very unlikely to have anything to do with Josie being IVF. It is truly no ones fault.
We sat in the doctor's office and received the worst news a parent could possibly get. He said he wants us to know what to be prepared for so we can have everything Josie needs.
He said seizures are very likely. Although she has been tested four times for seizures and all tests were negative, we believe the "attacks" she has are seizure related. She has two types of attacks that we named her "eye attacks," which happen daily, and the "bad attacks," which (knock on wood) we have not seen in more than a week. I will get into those in another post. Mind you, there are FOXg1 kids without seizures.
I believe Dr. Iglesias wanted to paint the worst-case-scenario for us, or at least just tell us what he knows from the not-so-many kids who have this. He said she may stay right where she is for a few years, but eventually her muscles will start to tighten and it might become harder to swallow, perhaps breathe, and move. She may need a peg tube in her belly to stay nourished. And he told us one day we may even consider an assisted living place for her if around-the-clock care is too difficult to manage at home. Well, that's not happening. And we'll cross that bridge IF we come to it. The worst words ever uttered to my face came when I asked what her life expectancy is and he said, maybe teens. But since then, I've read about Foxg1 kids in their 20s.
There is much more to tell about this syndrome and this blog will continue to be the place where I do.
I don't know if I can ever express how I feel. It's a wave of so many emotions - some, there are no words for. Sleeping is difficult; I've been feeling faint and foggy; I'm overcome with a sadness unlike anything I've ever known before. I'm exhausted and for the first time in my life I don't know if I can stay strong. I just want to protect my children. I want to protect Tanner from feeling how Rich and I feel. Tanner has such a beautiful view of his baby sister. He knows things are harder for her, but he is positive. He always says things like, "When Josie talks, she's going to say..." Or, "When Josie walks, she's going to play with my toys." I want to protect her from pain. I want to help her, help her, help her. I have this overwhelming energy to make a difference - this feeling of knowing that I can do something to help.
Our precious, smiling, laughing, beautiful baby girl has a real syndrome that will make life very difficult for her. I don't think I will ever accept the dismal prognosis. In my heart I don't believe it. They haven't seen Josie yet. I've always said this will be Josie's story to tell one day and I will hold on to that belief. I have to. And I ask anyone else thinking of Josie to do the same. Please keep positive thoughts for her. She's only two (and almost a half) years old and she has parents and family who will stop at nothing for her.
No matter what Josie does or doesn't do, we couldn't love her more. She brings pure joy to this world and in our eyes she is perfect.
Josie with her biggest fan, Macy!
Wild hair - don't care.
Trying on glasses!