Sorry it has taken so long to update you all, it has been a stressful few weeks. To start off, I wanted to say that we have been blessed with the happiest, most content little girl... She is such a little trooper through this all, I can't even believe it. She brings happy tears to my eyes often and I can't get enough of her. She is developing quite the little personality and sense of humor-I love it!
Yesterday we had an appointment with an ENT at Children's to check out her nose and throat. The Geneticist we saw a few weeks ago wanted to have this done as a precautionary measure to make sure there was no "floppy tissue" in her throat that can often accompany a connective tissue dissorder. The ENT said that he saw a little of the tissue, but not enough to cause concern. He did mention that Emri would most likely eventually have to see a pulmonologist(?spelling?) to check out her lungs and see if they are developing normally despite her "pectus excavatum"... AKA sunkin in chest. SO, that may be another appointment at a later time, but for now, we are content knowing that there is no obstruction in her nose or throat. The appointment itself was difficult to watch-Emri had to have a tube inserted up her nose and down her throat and she was not okay with it. A nurse was bracing her head and Brett was holding down her arms and legs...it was quite heart-wrenching.
After this appointment, we had Emri's blood drawn, which was another horrible thing to watch. They poked both arms, couldn't get enough blood, so eventually took it out of a vein on her scalp. I think I may have been crying harder than Emri... I hope with all my heart that we never have to have a day like that again. Emri had to get her blood drawn because we had to get another blood sample sent in and tested for Marfans. The reason for this is a little complicated, but I will try to break it down for those of you who are interested.
When Emri got tested for Beals, the lab sent us a report saying that they weren't quite sure what Emri had. Individuals dealing with Beals typically have a mutated FBN2 gene. Gene's are broken down into exons that are numbered from one to however many exons that gene holds. Beals patients usually have a mutated exon in the 23-34 range. Emri's 50th exon was mutated. Nobody knows quite what this means, and Emri may very well have a genetic disorder all to herself. We have dubbed it as "Emri syndrome." However, to be safe, the geneticist at children's strongly recommended us getting Emri's FBN1 gene looked at, which is what is affected when a person has marfan's syndrome. To learn more about marfan's, visit http://www.marfan.org/.
As for Emri's heart, we are praying hard that the Beta Blockers she is taking will help to shrink, or maintain her ballooning aorta. We have our next echo cardiogram on Oct. 4. Pray hard that that appointment goes better than the last one. We know that God is watching over us and our little girl. She is such a special little blessing. Thank you all for your concern and prayers...