Aniridia Conference

Yes, I still exist. :-) I'm sorry I haven't posted recently, but life's just been crazy.

This past weekend was the aniridia conference that I mentioned in my last post. It was a phenomenal conference - we are both very glad that we went. It was very informative, quite encouraging, and a little depressing all rolled into one. If they have another conference in 2 years (as they plan to), we will certainly plan to attend.

Because one of the ways I process information best is by writing it down, I will slowly be posting some of the information that we learned at the conference. Some of it is highly technical medical stuff, so if you're not interested in medical info, or if you're a little squeamish, feel free to skip those posts. :-) In order to hopefully get caught up with posting pictures, I will be alternating posts of pictures with posts of the conference.

The most informative part of the conference was Friday, which was the day that many of the doctors that are the experts in the US in aniridia spoke. They talked all about the latest medical advances for treating aniridia and its associated conditions. It was wonderful to be in a situation where, if Elli had any of those complications, we could have spoken in person to the foremost leaders in the field and gotten those questions answered. It's also great to know that, if she gets these complications, we can get a referral to these people and know that she's in good hands. I also feel armed with information and ready for battle - it feels easier to fight this "opponent" now that we know what we are fighting and can ask informed questions of our ophthalmologist.

We were encouraged by many things as a result of this conference.

1) It was encouraging to be around so many people that either are where we are or have been where we are. They understand all the feelings we have, and some of the struggles. It was nice to have them look at Elli and say "I see she has a nystagmus," instead of "Why do her eyes blink so much?"

2) I feel bad saying this, but I felt very fortunate at the conference, because thus far, Elli's condition is considerably less severe than many of the other children's. She seems to have relatively decent vision, she hasn't had any trouble with cataracts or glaucoma, etc. I don't want it to sound like I'm glad the others were worse - I obviously am not glad of that! But when we are tempted to throw a pity party for ourselves, I need to remember that we can be thankful that her condition is relatively mild at this point.

3) I discovered that we were very fortunate that Elli was diagnosed so early. I did not meet even one other family that was diagnosed in the hospital before they went home. Everybody else noticed that something was wrong with their child's eyes and had to tell a doctor about it in order to get the diagnosis, usually after 2 months of age. While nothing major could be done for Elli in those early days, at least if she'd been born with cataracts or Wilms tumor or anything like that, she could have been treated. And somehow, knowing it immediately, I realized immediately that she could be completely blind. While there was much grief in that realization, there was also then much more joy than normal whenever I noticed her looking at something, or reaching out for something.

4) Of all the parents that I talked to, only ONE of them said their child did not have feeding problems. All of the rest that I discussed this issue with said that their child had similar issues with feeding that Elli has had. In some cases, they took a bottle (making it a little easier to sneak in calories), but they all were really picky and spit most of their food back out of their mouth for awhile. In each case, they said the child eventually started eating...so there's hope. :-)

The depressing part of the conference is that it was easy to get overwhelmed with all of the information and all of the possible complications and surgeries that Elli likely will face going forward. Although I knew these things in my head, somehow this conference made it all very real to me and brought it home to my heart and to Doug's heart. It's kind of like the first day of a semester in college, when every professor in all of your new classes gives out a syllabus listing everything you have to accomplish in order to pass the class. After you've gotten all of the syllabuses, you sit there and feel overwhelmed, as if you will never be able to accomplish all of that! We used to call that "syllabus shock". I feel as if I have a little syllabus shock over Elli's condition right now, and I think Doug does too. However, I remind myself that, even though it always seemed overwhelming, I always got through each semester and passed. So, with God's grace, we will make it through this challenge as well.

The other mildly depressing part was that, while we did participate in the DNA registry, we will likely not receive the results back from them for a couple of years. This is part of a research project, and as such, it takes time to sift through everybody's DNA that participates. However, they gave us information on a place that will do the testing and get us the results in about 8-10 weeks, for less than the $5000 that I was originally told it would cost. So, now we just need to make that happen, which hopefully we will do in the next few weeks.

More information to come, but first...some pictures...:-)