Good Evening Everyone,
On Tuesday afternoon, I decided to call and confirm our appointment for today and to ask a few questions regarding paperwork, directions to the clinic, parking, etc. Well, the receptionist proceeded to tell me that our appointment was August 4th and not July 7th. She also informed me that she had no records for Emory, his diagnosis, his bloodwork, etc. All of this was around 4:00 in the afternoon, meaning there was not much time left in the day to obtain records. Needless to say, I was very upset. We have been scheduling everything around this appointment. Thankfully, the nurse told us to come on in but not to break our necks to get there right at 8:00 and they would have to work us in. They only see 5 new patients a month due to the extensive exams. We were going to the 22q11 clinic at Emory Children's Center and thought that we were going to see 5 doctors today but actually only saw 1. As we were driving there this morning, we really didn't know what to expect, but knew that we had to leave with some answers.
The nurse came in and sat down with us and gave us a ton of information. This disease, DiGeorge Syndrome, has only been studied by doctors and diagnosed in patients for about the last 10 years. It is very new to many in the medical field. It is very complex but also very interesting. They gave us a binder with various items in it but also a list of resources about this disease. One of those resources is the website http://www.22q.org/. If you have time and are interested, go to that website, click on resources, publications, and then the "During the First Years...." booklet and read page 3 especially. This will give you an idea as it did for us how things were formed in Emory and what the deletion of this chromosome actually means.
Claude and I are going to have our blood tested to see if we carry any signs of deletion of this chromosome. It is very possible for an individual to have a chromosomal deletion issue and never know it due to no outward facial features. More than likely, Emory is a random case. However, if they see anything in our blood, they will test Emmitt and Eli as well. Regardless of what they see though, Emory has a 50/50 chance of passing this on to his children, when that time comes.
The nurse told us that they don't like to label a child with a diagnosis of complete or partial DiGeorge Syndrome. She also said that she has never seen any 2 children that have DiGeorge with the same symptoms or issues. Every child is different at every stage of life. For us, we are focusing on the next 6 months or so. After that, we'll focus on Years 1-3 and so on. We know what to look for but don't know what to predict Emory dealing with. For me, I like to use the analogy of a tree that produces several different kinds of fruit but the root of that tree is the DiGeorge Syndrome. Emory may deal with apples and oranges right now (heart and feeding issues) and grapes and bananas (speech, learning, or muscular issues) later.
We saw the Immunologist and she said that we could decrease Emory's calcium dosage each day. She also said that his bloodwork looks good and feels that his immune system is not as bad off as it could be. However, to be on the safe side, we will have his blood taken again in about 4 weeks and reevaluate his calcium levels, white blood count, etc. That's basically the only thing she deals with. Although the DiGeorge is the "root" of the problem, any other issue is taken care of by another specialist.
So, we go back downtown tomorrow to see the gastro dr. And, we'll continue to see the cardiologist in a totally different office as well. The cardiologist needs him to gain weight. According to the scales today, Emory has not gained a complete pound since he was discharged from the NICU a month ago. We've worked very hard to feed him very often, using the high calorie formula, and adding cereal to it. After all of that effort on our part, we feel very defeated in the whole process. He just doesn't keep very much down after his feedings. And, for all of you out there whose children have reflux, we have tried everything and realize now that his issues are from the DiGeorge Syndrome and will be there regardless of the position he's in, type of formula, medications taken, etc. We will have a swallow test done tomorrow and then put together a plan of action that may or may not include surgery and/or a feeding tube. At this point, I'm ready for them to do just about anything.
The gastro dr. will also refer us to a cardio velo facial dr. at Scottish Rite so that we can assess the formation of the back of Emory's mouth, get set up for early speech therapy, etc. Things that you wouldn't think are connected to one another when it comes to eating, speech development, etc. are all intertwined and connected. It's very interesting!
Our prayer is not for Emory to be healed of his chromosomal defect. I believe God created him that way for a reason. I don't know what the reason is and I know our road ahead will not be easy. But, God has a purpose in all of this and we may not even know what that is until we get to Heaven.
You can pray for us tomorrow as we meet with the gastro dr. at 2:30 at Emory Children's Center. Pray for the dr. to have enough wisdom so that we can get a solution soon and Emory gain some weight. Also, pray for us as a couple to keep our energy up and our immune system good as well. Lastly, pray for Claude's employment. God has brought us too far in the journey called life to let us down now. We are believing Him for provision of a job for Claude as well as for a solution to the feeding issue.
I trust you all had a wonderful 4th of July! I'll post another update tomorrow evening after we see the gastro dr. Have a wonderful night and weekend!