I knew they were odd…

(As I TRY to explain this, please keep in mind I am NOT a science person.)



So, we went to Memphis again yesterday. There is absolutely no doubt in my mind that God has placed us where we are supposed to be.



We saw Dr. Allessandro Iannaccone. He was awesome. His nurse, Mindy, was amazing as well. We had both of them all to ourselves all afternoon. They did a thorough exam on both Jason and Amy. Dr I (get it? Dr I) was amazed that either of them could see as well as they can, given the extent of retinal damage they both have. Amy’s is comparable to Jason’s, which is not good considering Jason is 32, and Amy is 4. It was SO helpful to have Jason there, though. The dr could compare the two of them, and it really helped with the diagnosis. We did a complete medical family tree, and several test on both Jason and Amy. Jason laughed and said it wasn’t fair…he went to AMY’s appointment and JASON got stuck with the needle. Dr. I felt confident from the beginning that the issue was genetic, and by the time we left, we were 99% sure of it. He also feels confident that, after exams and testing on both of them, he knows what the problem is. This is amazing to me. The way he explained it, we have about 200 genes. Each gene has two parts, mom and dad. When we got there, we were looking at 400 options. When we left, he felt confident we were down to ONE. Based on the location of the damage (behind the retina, rather than in front), the damage is very indicative of dominate drusen. It is also called honeycomb macular dystrophy.

Doyne's honeycomb retinal dystrophy

This disorder has symptoms quite similar to those of AMD: drusen on the macula and at the edge of the optic nerve head, macular scarring, and neovascularization in late stages, with progressive loss of central vision. Symptoms typically arise during the fourth or fifth decade of life.



Doyne's disease has an autosomal dominant pattern of inheritance. The responsible gene has been mapped, cloned and sequenced. Based on sequence similarities, it has been given the name EGF-containing fibrillin-like extracellular matrix protein, abbreviated as EFEMP1. The protein, whose function is not yet known, is found behind the retinal pigment epithelium (RPE).



I’m sure that helped you as much as it did me. :)



So, what does this mean? Well, we have to keep in mind that the diagnosis is NOT 100% yet. Jason will have another test on March 31, and Amy will have more in April. She will have to be sedated for the tests, so we are not thrilled about that, but the test is just too intense for a 4 year old to handle while awake. Elizabeth will also go to be screened on March 31. The reason we have to wait is that Dr. I also practices in Italy, and will be headed there in the next week or so. In the mean time, we have vitamin supplements, including DHA for Amy and Lutein for Jason.



In the event we do receive and official diagnosis of Doyne’s, we will proceed with genetic testing. This will lead to possible stem cell therapy. I have no idea what this will involve, but I would assume they would take my “good” cells and give them to Amy, possibly Jason, and Elizabeth (if necessary, PRAYFULLY she has skirted this issue. She has been seeing an eye specialist for 5 years for other issues and this has never been mentioned.) I don’t want to begin to think about how they will take my cells, or give them to my family.



So, that’s where we are. I have absolutely no doubt in my mind that GOD placed us with Dr. I. We are going to be ok. Amy is not going to go blind from this. Jason is not going to go blind from this. They may both end up with decreased vision one day, but they will still be able to function. God is good, and He will see us through this.