We just returned home today after a weekend retreat with the folks at Michigan Parents of the Visually Impaired (MPVI). Everybody in the family had a fantastic weekend, and we all came away with new friends along with new energy toward sharing knowledge and improving the world around us. This is the first time since […]
A conversation with some other moms with spectrum sons reminded me of my early experiences in the workplace. My first real full-time job was working as a secretary for an intellectual property law firm outside of D.C. I started out as a temp, then got hired full-time to be the primary secretary for two younger […]
“Regrets. I have a few. But then again, too few to mention…” — Frank Sinatra I’m going to mention some, though. I regret not being more forceful in trying to figure out what was wrong with Caitlin’s and Jarod’s eyes before Kender was born. Ever since Jarod was a baby, and his eyes seemed to […]
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.
Things are going much better on the eyeball front. Caitlin had her office visit with Dr. Trese, and he said she looked better and could wait until that Friday for the exam under anesthesia (EUA).
Thursday afternoon they called to say we needed to be at the hospital at 6:30 a.m. This hospital is an hour and a half away, so we had to get up at 4 a.m. to get there on time. Ugh.
Kender was first. His pressure in his right eye was 17, so he will continue on all three eyedrops (Cosopt, Xalatan, and Alphagan). Everything else looked good, so he gets to wait until September before going back.
Tamara looked okay, but there were areas where Dr. Trese had previously lasered that he said didn’t take, so he did more laser in both eyes on her. Otherwise, she’s good, and can come back to the office in October.
Dr. Trese found the bleed in Caitlin’s left eye, and had to do quite a bit of lasering to cauterize it. He thinks he got it, though, and he didn’t see any sign of retinal issues, so she just stays on light activity for now and goes back in the office in a few weeks. She also says that she doesn’t see any difference in her vision now that the bleeding has cleared up, so that is great news!
It took longer than usual last night to get a call back, even considering it was after office hours, but Dr. Faya called us back and said to bring her in to the Royal Oak office in the morning, NPO in case anything needed to be done. (I am so thankful to be living so close to them that we really can bring the kids in at the drop of a hat!)
So we got up and left at the butt-crack of dawn to make sure and get to the office when they opened. Dr. Luo (? I think? haven’t seen/met him before) looked at her, and said yes, she has quite a bit of bleeding in the left eye, so he left to call Dr. Trese (who wasn’t actually in that office today) to see what to do. Dr. Trese said that he wouldn’t be able to do anything today as far as laser cauterization, because there is so much blood floating around in her eye now that they can’t get a clear shot of where it’s coming from. She’s not actually seeing curtains or blank spots, so they don’t think there’s any active detachment. They put a shield patch on the eye and ordered her to low activity and sleeping upright, in the hopes that the exudates will start to precipitate out and clear the vitreous. We go back to the office on Tuesday to follow up; if she is having no signs of detachment and the vitreous seems to be clearing, we will go ahead with her previously-scheduled EUA with fluoroscein angiogram next Friday the 22nd (along with Tamara and Kender), and just expect that she will, at a minimum, get fresh laser cauterization at that time. Of course, if she shows any signs of incipient detachment, we’ll go back immediately and I guess he’ll do a vitrectomy to clear things out so he can reattach the retina and cauterize the bleed.
Three trips in 8 days. I’m glad we live close, but in my 12-passenger van, crossing half the state still ain’t cheap! Not to mention we are NEVER going to catch up on our school work if this stuff keeps happening.
On the positive side: ATLAS SHRUGGED opens today! Happy Tax Day (or what should have been Tax Day) and TANSTAAFL everybody!