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.

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.)

Frequently Asked Questions

On Blindness and FEVR

• What is FEVR?
• Why did you have so many visually impaired kids?
• Why do you recommend everybody to see Dr. Trese and/or his associates? How do we do this?

On Homeschooling

• Why do you homeschool?
• What curriculum do you use?
• Isn't it time-consuming?
• How do you homeschool blind children? Don't you need professionals from the schools to do that?

On Triplets

These are all real, live questions from real, live people, most of them asked at least once every day. In case you can't tell, they are really starting to get on our nerves. We would definitely recommend not saying any of the following to any triplets/parents you may meet:

• Are they twins?
• I bet you have your hands full!
• Do you really have three babies in that stroller?
• Are they all yours?
• Are all three triplets?
• I've never seen triplets before!
• I've never seen a triplet stroller before!
• Are they all different sexes?
• Are they all boys?
• Two boys and a girl?
• How do you manage?
• Did you know you were going to have triplets?
• Do triplets run in your family?
• Were you on drugs?
• Were you on fertility drugs?
• Do they all sleep at the same time?

What is FEVR?

FEVR stands for Familial Exudative Vitreo-Retinopathy. It is pronounced like "fever". FEVR is a genetic disease affecting the growth of the blood vessels in the retina. Various gene mutations, with all the different heredity patterns, cause disruptions in the signaling pathway for growing new blood vessels. This causes some blood vessels to grow uncontrollably and others not to grow at all, leading to a huge variety of eye problems, ranging from a little nearsightedness to total blindness. It is a progressive, life-long condition, with the risk always present for future vision loss, although new treatments have reduced this risk a little.

Why did you have so many visually impaired kids?

Well, we certainly didn't set out to. We asked doctors whether Brian's eyes were caused by a genetic problem when we started our family, and we were told absolutely not, there was no chance of it whatsoever. We didn't find out that our family has FEVR until our sixth child was born with severely affected eyes. At that point, they realized that Brian had been misdiagnosed, and that he and four of our children have FEVR.

Why do you recommend everybody to see Dr. Trese and/or his associates? How do we do this?

Dr. Trese, along with his associates Drs. Capone and Drenser, are quite simply the world's leading experts in FEVR. They see more patients with FEVR than any other practice in the world, and they do most (if not all) of the research on this particular disease. Local ophthalmologists and retinal specialists can monitor the disease and do some treatments, but there just is no substitute for seeing the experts. Folks come from around the world for their advice and treatment, even if it's only once every year or two.

To schedule an appointment for exams in the office or under anesthesia, contact Associated Retinal Consultants at their Royal Oak, MI, office at 248-288-2280. Mary Nichols is the surgery scheduler, and you can ask for her directly if you know your child needs an exam under anesthesia.

If getting to Michigan just isn't possible right now, you can still be enrolled in the genetic studies being done by Dr. Drenser. Have your local doctor contact the Royal Oak office to get the information needed. You will need to have blood drawn locally and then sent to the Michigan office for testing. Results come back anywhere from 1 month to 1 year from when they are sent, as the tests are done in large batches to save on cost.

Why do you homeschool?

We homeschool for a lot of reasons. Probably the biggest, and the one that first led us down this path, was our personal experience with the government school system. Brian grew up as the only blind kid most of the time, and endured ridicule and bullying for a very long time. Elayne grew up as the pudgy geek, and put up with her own set of bullies. In addition, we saw problems with getting our needs met, with lack of accommodations, lack of access to an appropriate level of education, and deliberate holding back. These are things we want to avoid for our children, and led Elayne in particular to consider homeschooling before she even left school herself. As adults, we have also come to believe that government is not the best provider of educational services, and that the government should not be involved in education nearly to the extent that it is today. We do not want our children politically indoctrinated, we do not want them held back to a uniformly low standard, and we do not want to encourage them to conform and just go along with authority.

In short, we want our children to learn to think, reason, and research independently, to interact with the real world with real people of all ages, to question authority and follow their own path.

What curriculum do you use?

We generally follow the curriculum outlined in The Well-Trained Mind, with some modifications. We don't follow organized science programs in the elementary years, instead following paths of curiosity and answering questions about the world as they arise, which seems to work well for us. We have not done much second language work, and probably will not as we shift our focus to Braille for the younger children. We use the computer a bit more and handwrite a bit less than recommended. We do steer clear of highly-Christian books for the most part, but we do find Voyages in English and Story of the World to be acceptable.

Isn't it time-consuming?

Not at all. Well, maybe a bit for me, but only because I'm trying to do 6 at once! The children, when they sit down and focus, only need to spend 2-3 hours each day on their assignments. This is less than half the time they would spend cooped up in a schoolroom under government education. The rest of the day is theirs to spend being children, playing games and running around getting in trouble.

How do you homeschool blind children? Don't you need professionals from the schools to do that?

Most of the skills of blindness can be learned by trial-and-error (blindfold yourself and try to do something), through books and resources readily available online and at the library, or just by asking a competent blind adult. We have a competent blind adult in the family, and another as a close friend. Blindness skills can be taught easily through everyday living, just as we teach our sighted children how to do things and how to get around. The most difficult skills to teach and learn are cane technique and Braille. Elayne is studying both of these, but we also seek out professional assistance in these areas, much as you might get a piano teacher or a skating coach to teach a child those specialized skills. This is difficult-to-impossible in Michigan, but will be easier in Texas, especially now that we have a TVI in our extended family there!

Are they twins?

No. (Where does this question come from? People who can't count?)

I bet you have your hands full!

I bet you think you're original, don't you?

Do you really have three babies in that stroller?

No. It's only two babies and a doll. I'm psychotic and just think they're three babies.

Are they all yours?

Nope, I'm just masochistic, I like taking lots of babies everywhere I go.

Are all three triplets?

No. I get my kicks off of dressing up other people's children like my own.

I've never seen triplets before!

Neither have I.

I've never seen a triplet stroller before!

Neither have I.

Are they all different sexes?

Yes, that's right, we have one boy, one girl, and one alien.

Are they all boys?

Yup. We really wanted some girls, though, so we dress a couple in pink hoping they'll change their minds.

Two boys and a girl?

That's right, two drag queens and one bull dyke.

Nobody ever asks us if they're all girls, though, or even two girls and a boy. Feel free to if you see us.

How do you manage?

I'm not sure. My memory is pretty fuzzy right now. Could you pass me another drink? I need to take my medication now.

Did you know you were going to have triplets?

1st Answer:

Nope. My weight gain and size had the doctors completely mystified, and the ultrasound didn't show a darn thing. They never could figure out which lump was the head.

2nd Answer:

Yup. We had this planned from the beginning. We went to the doc and said, "Ok, we want to have three babies at once. Don't mind the leather and chains; we're into sado-masochism."

Do triplets run in your family?

They do now.

Were you on drugs?

Not before, but I sure do need them now. What have you got on you?

Were you on fertility drugs?

Do you want the long answer or the short one? Because by asking the question, you don't seem to understand the true risks involved in fertility treatment. In fact, yes, I was on fertility drugs. It was the lowest-level, least effective "fertility" drug on the market. I was also given a less than 5% chance of having twins. Triplets were never mentioned. If you think I should have been expecting this, think again. And how were your children conceived?

Do they all sleep at the same time?

This question made a little more sense the first year; after 16 months or so it started to seem a little insane. If they weren't sleeping together at some point, they would need to have some serious health problems.