FEVR Conference

Better late than never. It’s always so crazy around here. Here’s my summary of the FEVR conference we had here in Michigan last month:

If you’ve been reading this blog regularly, you know that our ophthalmologist, Dr. Michael Trese, is the world’s leading pediatric retina specialist. People come from all over the world to see him and his colleagues, Drs. Capone and Drenser. Last month, their office, Associated Retinal Consultants, together with ROPARD, held a conference for families affected by Familial Exudative Vitreo-Retinopathy (FEVR), the disease causing the blindness in our family. It ended up being a two-day event, with social opportunities the night before and lectures given by the doctors on Saturday.

For many (most?) of us there, it was our first opportunity to actually meet other people and families with this disease. FEVR is so rare, most doctors will see at most one case of it in their entire careers. Our local low-vision specialist flat out told us that he didn’t even study this disease in school because he never expected to see it. Many of us have been through misdiagnoses and mistreatment from our local “specialists” who just didn’t realize what they were dealing with. The opportunity to share our stories was priceless.

Friday night, ROPARD helped organize a dinner at the hotel we were staying in. We all ate in one of the hotel’s conference rooms, and then there was time to hang out and chat. Paula from ROPARD brought some items to display, special toys and things. One blind gentleman she brought with her brought a Mountbatten brailler for us to check out, and I brought a box of Braille and tactile books. Thanks to how the child-care situation ended up not working out, there weren’t many children with us, but there were a few.

I was a little embarrassed, because people kept coming up to me and saying, “Oh, it’s so nice to finally meet you, you always seem to have so much information!” Of course I’ve met people online before, but usually just one or two at a time. This was a little weird!

One thing happened after dinner Friday evening that was just so amazing, I keep telling everybody I know about it. I’m always a big advocate for mobility in young children, and I kept telling everybody I spoke to that they needed to get canes into their children’s hands, no matter how young, no matter what the schools or anybody else said. While we were standing around chatting, a little boy came up to Brian. The boy looked to be about Kender’s age, with a little better vision than Kender. He grabbed Brian’s cane, curious, and I whispered to Brian to let the boy have it. This little boy, who had never held a cane before, took off with Brian’s cane around the room, using it in a completely appropriate manner, finding all sorts of obstacles with it. You couldn’t ask for a better demonstration of how natural cane use is for these children when they start young, and how easy it can be.

Later, a bunch of us parents got together in the hotel lounge and hung out until the bar closed down, chatting and sharing stories. Brian got to talk with some other fathers who also have FEVR, although none of them were blind and all found out about it as adults. There were other families there with 3 and 4 children with FEVR (although none with six childrens altogether!), and even a couple of families from Michigan! Max Bodnar and Brian really hit it off, and started making plans to set up another “conference” next year, mostly as a get-together for the parents and children this time.

Saturday was the official conference. The morning was taken up by presentations by Drs. Trese, Capone, and Drenser. There were two major revelations presented. The first is that they no longer believe they can identify FEVR patients with a routine dilated exam of the retina. Some Stage I patients have been slipping through this screening, only to show leakage or exudates when given flourescein angiogram. Because of this, they now are planning the fluorescein angiogram to be the standard diagnostic tool, and will be using this to screen family members once a patient has been diagnosed. This will be easier than it has been for older people (say, over 10 years old) because the doctors are acquiring a new machine that will make it easier for them to do these angiograms in the office and still get a good look at the periphery of the retina. For us, this news means that Brian’s parents need to get rechecked, especially in light of his dad’s newly-diagnosed macular degeneration and cataracts, which could be exacerbated by FEVR. The doctor down there in Texas does not do angiograms, so they will have to wait until they can come up to see Dr. Trese to get that done, but they will be able to get their blood drawn so they can be included in Dr. Drenser’s genetic study, and that should show if they are carrying the same FZLD-4 mutation Brian and the kids have. It’s important for us to find this out, because if either of his parents turn out to be carriers, Kevin’s family will need to be checked.

The second big news was that the doctors are having much better “success” rates over the last two years with preventing rapid deterioration in their FEVR patients. They have taken a very aggressive approach to laser cauterization of the retina, lasering areas with exudates, blood leakage, avascular retina, and capillary dropout. We’ve seen this in our own family, where it seems like somebody gets fresh laser every few months. This aggressive treatment has resulted in many fewer cases of what they called “surprise” leakage and exudates, where previously-quiet eyes suddenly showed massive changes on the next exam. This could be very good news for children like Tamara, Caitlin, and Jarod, who may now be at less risk than we previously thought of losing their remaining vision.

Finally, Dr. Drenser gave a very interesting and detailed description of the current understanding of the genetics and chemistry behind FEVR. There are several different known mutations that cause FEVR, as well as more that are unidentified. All the different mutations disrupt the same basic chemical process linked to the growth of new blood vessels in the retina. This process is very complex, with many known receptors at the beginning and end of the reaction chain and what Dr. Drenser called a “black box” of reactions in the middle that have not yet been fully identified. Messing up any link in the chain leads to the emergence of FEVR. Having so many different places where things can go wrong means that FEVR shows all of the known inheritance patterns (dominant, recessive, and sex-linked), and because the expression of these known genes can be up- or down-regulated by other unknown genes, the expression of the disease in two people (say, siblings) with the same mutation can be very different (like Tamara and Kender). It was really fascinating to see how much they know (and how much they don’t yet know) about how this disease works. We also got to get a sneak peek at the new genetics lab that the doctors have set up this year for further research into FEVR and other pediatric retinal diseases.

Saturday afternoon was given over to a presentation by Dr. Ference, a low-vision specialist who works out of the same building as Dr. Trese et al., and who is very highly recommended. She may be highly recommended, and I’m sure there are some advantages in her style, but Brian and I personally were very disappointed in her presentation. It came off as a 2-hour advertisement for herself, and several times she gave the impression that she could effectively “cure” somebody’s blindness through eye exercises! Many of the things she said nobody else does were things all of our ophthalmologists and low-vision specialists have done, and many of the “treatments” she prescribes are things that any child with an active parent and an engaging environment will do naturally. I’ve got notes from the presentation, and I’ll break down my criticisms in another post, but Brian and I (and really our TVI, who came along Saturday for the fun of the presentations and learning) came away very disappointed.

All in all, though, it was a wonderful 24 hours, and we can’t wait to do it again. We spoke with Dr. Trese, and we will be working with the surgery schedulers to set up a week or two next summer that can be set asides for the practice’s FEVR patients. We’ll get everybody out-of-town to schedule their annual/biannual/whatever checkups for that time, and over the closest weekend we’ll book a group of rooms at the hotel and plan some family events. We want it to be a kid-friendly get together this time, so all the kids can meet and talk and socialize. As parents, we got a lot out of just that aspect of it, and we think the kids will, too.

Keeping up with stuff

I’ve just signed on as a co-blogger for a friend’s blog (Life with Twins and Multiples). Having somebody else watching over my shoulder, along with all the other ladies consistently posting, ought to help keep me on my toes and posting, right? And if I can keep up with posting on that blog, surely I can keep up with posting on my own. So here’s my biannual pledge: I promise to start posting regularly from now on. (Yeah, we’ve heard that one before.)

To start off with, I see I haven’t updated on Kender since the beginning of last month. Kender, as I reported, was having trouble with glaucoma and bleeding in his eye, and was put on some eye drops to help bring his pressure down while we waited for the bleeding to clear out and give the doctor a better look. A little over a week later, he started having symptoms of even higher pressure, including inconsolable fussiness, bloodshot eye, dilation of the pupil in that eye, and even bulging in the eye. A stronger eyedrop was called in, Kender went in to see Dr. Drenser in the office a few days later (Dr. Trese was on vacation, of course), and he went in for an EUA on the following Monday, April 19.

Kender’s pressure was still slightly elevated, but lower than on April 1, in the low 20’s, so he’ll be continuing on both the drops. The bleeding was gone, and with that out of the way it does not appear that there is any new growth of blood vessels (Yay!). The bad news is that enough scar tissue has now grown over that eye that Dr. Trese does not think he has any usable vision left. (The good news being that we don’t have any reason to continue trying to force Kender to wear his glasses now.) All of this is in his right eye. His left eye had some leakage that was visible on angiogram, so Dr. Trese did some lasering. He’s to return for another EUA in 3 months instead of 4 now.

As for me, I’m in the middle of another spring fibromyalgia flare. These spring flare-ups have been baffling me and Brian, but I think I have a theory. After a long winter stuck inside here in Michigan, snow everywhere and needing to bundle up all the time, when spring comes it seems warm to everybody. Off to the park we go! We’re outside gardening, weeding, playing, going to the zoo. But…it’s not that warm. Not really. Lots of this stuff we’ve been doing when it’s only in the lower 60’s. My theory is that after staying warm by hibernating all winter, I’m shocking my body by not waiting at least until it’s in the 70’s to go outside so much. Yesterday it was in the 70’s, and I was outside a good chunk of the day, and I feel much better today! Not that it’s really practical to continue hibernating through the 60’s up here, not with small children that need to get out. But it’s just a theory.