First, let me start by saying thank you. The response to the last post was extrordinary, and we are so grateful. We've had so many people reach out to us and almost instantly I felt like we had direction. It's really insane how things happen. Life has been relatively calm since. Winsley is now 6 months old, we started real food, and school is almost out! Almost.
Just the other day the Genetic Counselor from another state who is apart of the research group for MKKS and BBS contacted me. I absolutely love this woman! haha From the second I first spoke with her a few weeks ago she has been so incredible and understanding. She's so patient and is always saying "I know this situation is really frustrating and confusing." I like Winsley's geneticist too but this woman studies these syndromes all day everyday and knows them inside out so I love to talk with her. She has so much knowledge to offer me. When I was talking to her Dayton was overhearing my conversation and I'm holding my hand over the phone mic and mouthing to him "SHE"S THE NICEST PERSON ON THE PLANET!!" haha Anyway, I hope I get to meet her sometime to hug her and thank her for being so helpful to us. During the phone call she summarized what we had spoken with about previously. She asked me about an Opthamologist (we have an appointment in December) and if I spoke with her geneticist about testing costs. I reiterated my impression that Winsley didn't have BBS, and if she did have MKKS why didn't she have heart problems? But again, people with syndromes can have two out of three symptoms. So confusing. She mentioned that there is another syndrome Pallister-Hall syndrome that could be a posibility. I remember reading a little bit about it but just glanced over it. She said Winsley could have a Bifid Epiglottis and hypothalamic hamartoma. Immediately after she told me the syndrome she told me to be careful to Google. I said "I've learned to not Google too much. I'm smarter than that now." haha Googling freaks me out and I usually just hear of the most severe cases. Those other two symptoms made sense to me. It's not something I could see any evidence of like seizures or trouble breathing right now but the abnormalities could be there. There is a way to see if she has those abnormalities. When Winsley goes under for her other surgeries and they put a breathing tube in they can check out her Epiglottis and they can do an MRI to check her brain. So offered to send me a very clinical email with her thoughts to share with Winsley's geneticist.
I called Wins geneticist right away to get the email forwarded. I love Wins' genetic counselor in AZ too. I didn't like her very much in the beginning because the last time I talked to her she was telling me the price of the MKKS test and I hung up crying haha. I sent the email and she called me back the next day. She said she talked with Winsley's geneticist and he agreed with the other option for Pallister-Hall. There is a test to test every gene in Winsley's body and not just test for one syndrome at a time. She ran our insurance with that specific lab and they said it would be free to test it. Free? I was speechless. I agreed without question! She's sending us paper work to get it all set up. Even the blood draw will be free! I was so relieved, it made my day. Test results take about 5-6 months to get back but I'm okay with that. So we'll do the blood draw for Dayton, Winsley, and I in the next week or so then have it sent to the lab! I can't believe how quickly everything has turned around!
We don't have a clear understanding of Winsley's syndrome and I don't need answers right this minute but I need to feel progress. I just wanted to know who to call and to have a direction because most times I would stare at the google search page and have no idea what I was looking for. Wins' I hope we're doing right by you. I hope we're talking to the right people and we're making the best decisions. I feel more confident that we're finally getting there the more doctors I talk to. We love you bean! I love the deep breathes you take right before you close your eyes to sleep and Daddy loves that little scar on your tummy because he says it means you won't be able wear bikinis. haha We love you so much Winnie girl.
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