So yesterday we went to Duke. Mom & I left at 7am to get Pat in Charlotte & head up to Durham. Our appointment was at 1:00 but we wanted to make sure we knew where we were going and had time to eat or whatever, and not be late. Pat saw one doctor at about 2:15 and she did some vision tests, color tests, and a field test. We waited for another 2 hours and saw Dr. Bhatti, who we had come there to see.
Apparently the last two doctors Pat has been to have run a large number of tests, including the spinal tap to test for MS, and no test results were forwarded to Dr. Bhatti's office. Without that, everyone's still assuming a lot. But it wasn't a total waste.
First of all, Dr. Bhatti listed all the reasons for us as to why he believed Pat did not have MS (Multiple Sclerosis). -- Mainly because his eyes weren't in pain, his MRI of his brain was normal, other areas haven't been affected yet, one eye got bad and then months later another, and because generally Pat was otherwise healthy.
Dr. Bhatti STRONGLY believes that Pat has "Leber Hereditary Optic Neuropathy" (info on LHON can be found here & here).
Luckily, Pat has already been tested for "Leber's" and the test results were included in the bunch that were not forwarded to Dr. Bhatti. Dr. Bhatti is extremely knowledgeable about Leber's. He has worked on clinical trials and was even the doctor for Jared Hara, who had a documentary of his story on HBO, called "Blindsided" (http://blindsidedthemovie.com). Dr. Bhatti said the test results should have only taken 3-4 weeks to get back, so Mom should have them by now. Mom has been desperately trying to get in touch with the doctor's office but they either don't answer, don't call back, or say "all results are not back so we can not give you any results yet."
So, Dr. Bhatti said, he believes so much that Pat has Leber's that he should live as if he has it, until otherwise proven that he doesn't. He even said that if Pat's past test comes back negative, to come back to Duke to have the test redone and sent to a different lab. Apparently there are 3 different mutations for Leber's in the cell's mitochondria, and the blood tests only test for the most common, and Dr. Bhatti has seen tests come back negative for one mutation, retested, and then come back positive for another. So, if the test results come back negative, Pat will be retested.
About Leber's....(here's what I got from Dr. Bhatti, but you can click the links above & read more info if you'd like). Leber's (or LHON) is a genetic mutation disease, found in the mitochondria of the cells. It's passed through the mother's genes. Dr. Bhatti then explained to us that if Pat's results came back positive, then I would also have Leber's. Pat will not be able to pass this mutation onto his children; however, I will pass it to mine. Dr. Bhatti explained that with this genetic mutation, Pat (males) had a 60% chance of losing their eyesight and I (females) have a 20% chance of losing my eyesight. Anyways, Pat's "bad" eye is probably as bad as it's going to get, he thinks, but he told Pat that he believes within a couple months Pat's "good" eye would get as bad as his "bad" one. Pat still has peripheral vision, but straight ahead everything is very blurry.
There is no treatment plans that they have found to work for Leber's. He asked Pat if he has contacted anyone regarding low vision "tools" or something of the sort....and within the lat week or so Pat had. Pat and Mom have met with a social worker discussing Pat getting disability, and getting different services like a "pebble" to magnify his books, etc. so he can do his school work (which is suffering pretty bad right now), or Zoom Text which will blow the text and images up on his computer, and a closed circuit TV (I think is what they called it) so he can try to put whatever it is he's trying to see up on the TV to try to help. Either way, all these things are very expensive and Pat is trying to contact The Lion's Club to see if they can help financially.
Dr. Bhatti said that if Pat's results came back positive, and he was almost certain they would, that his previous doctor, Dr. Saunders, could explain to him all he needed to know about it, or he could come to Duke and he would do it personally. He said Pat his personal office number and said to call and leave a message and he would fit him in ASAP instead of waiting the normal 2 month wait. I personally believe Dr. Bhatti is the best bet with all this....especially since he can spit off the genetic mutation number "11778" and stuff like that. He also said that if the results came back positive, that Pat did have Leber's, he strongly encouraged him to watch that HBO film, "Blindsided" because it showed this happening to a boy a little younger than Pat, all they went through, and how he is able to live as closely to a "normal" life that he can now, adapting to his condition. Dr. Bhatti joked that we should also just watch it anyways because he was in it, as Jared's physician- haha.
Dr. Bhatti called us at 9:45pm last night on our way to take Pat back to Charlotte (this was obviously an ALL day thing...Mom & I didn't get home until about 11:30pm). He said for Mom to call tomorrow to get the results, and if she is having trouble doing so, that he would call personally to get them. I thought that was so kind of him to do. He was obviously thinking about Pat late that night and wanted to help as much as he could. He had called the house and talked to Dad, you know...thinking we would be home by then. He obviously doesn't know us that well, haha. Dad gave him Pat's cell phone number and that's when he called and talked to Pat. I just couldn't believe that late in the evening he was making calls trying to get in touch with Pat, trying to help. That really touched my heart.
Um, I THINK that's all I know. This morning Mom already called the office to try to get some answers, and had to leave a message. She said if she doesn't hear back by lunch shes calling to have a nice long chit-chat with their office manager, then calling Dr. Bhatti to see if he can get anywhere with them.
Sorry this is so long. I tried no to leave anything out! If you come across any questions, ask, and maybe I'll remember something else!
Well, that was all on Tuesday, February 9th and I wrote that message to people the next day. By the end of the day I was talking to my Mom during a break in class, and she told me she had gotten the test results back. Pat had tested negative for Multiple Sclerosis and positive for Leber's.
Honestly, I wasn't thinking of myself at all at that point. I was just SO incredibly thankful that my brother did not have MS. My brother is athletic and losing control of his nerves and his muscles would literally kill him. Your eyesight is precious...so very precious...but if you want to be realistic, Leber's is the lesser evil here. It's something that is devastating and life-changing but it also is something you can learn to live with.
So, this is what went on last week. Going to Duke and learning of Pat's (and ultimately now my) diagnosis. You can see now why it was so emotionally exhausting.