So I called to make her an eye appointment. I found that our regular eye doctor, the one who has worked with a couple kids with Lucy’s same syndrome and who we really like has started only working one day a week and was booked for months on end. I think the poor receptionist could tell immediately that I was a little horrified at that news and she tried to comfort me by letting me know the other doctor in the practice was just as great and that she could get us right in with him.
But did he have experience with BBS kids? I asked? Well, no, she admitted. But he has been in the practice for just as long and will be able to help, she promised.
Right then and there it hit me how crazy this syndrome is and my dragon mother instincts came through. I explained that the eyes work really differently for these kids. Their retinitis pigmentosa is somehow different from other degenerating eye problems and I explained passionately that I needed our normal doctor. That, of course, didn’t change the fact that he was unavailable so I asked if he could please discuss the syndrome with our normal doctor before we came.
I think in desperation to get off the phone with this crazy mother she half-heartedly told me that sure, she’d try to be sure they talked.
But sure enough, they didn’t, and I sat there once again, as I have done so many times before, trying to explain to yet another doctor how Bardet-Biedl Syndrome works. Trying to regurgitate the findings I’ve listened to so many specialized doctors at BBS conferences spill out over the years, but failing miserably because I haven’t been to medical school and I can’t for the life of me remember all the terminology and exactly how those rods and cones are somehow different in Lucy’s eyes.
And that is always frustrating because I’m not a doctor and have never been to medical school yet I know enough to know that things are different with this ten-year-old of mine and I need specialized help.
The doctor was quite worried about the nystagmus and how Lucy’s eye wouldn’t stay put. He was also surprised that her eyesight had apparently changed quite dramatically from her last appointment. Better, in fact, which was puzzling to him. And to me too. He changed her prescription and recommended strongly that she needed an MRI of the brain to try to figure out the disconnect causing that wiggly eye.
Talking to Dave that evening we decided it was time to take Lucy back to Marshfield Clinic.
I’ve written a bunch about this before, but to make a long story short, there is an outstanding Nephrologist there at Marshfield (Dr. Haws), who worked with some BBS kids years ago and felt compelled to help their families. He realized how difficult it was for these kids to get the care they needed with doctors unaware of this very rare syndrome and he decided to start a clinic there with more specialized doctors for each aspect of the things that need special attention in BBS kids: kidneys, heart, behavioral health, and nutrition to name a few. We got to go visit there a few years ago when all this BBS mumbo jumbo was still so new to us, and it’s hard to express how amazing it was to have the doctors know what to look for and how to advise us.
We got the appointments scheduled (and I act like that was all easy, but man alive that’s a lot of coordination with the great lady Brenda who was in charge), made our flight arrangements and headed out on our special little mommy/daddy/Lucy date to the wide and spacious fields of the Midwest.
…and pulled in to tiny little Marshfield where that great clinic is.
Just like last time we were there, Dave and I marveled at how crazy it is that so far away from any airport or any large towns for that matter, lies this wonderful place called Marshfield Clinic that is filled with amazing doctors (who also happen to be incredibly kind and conscientious) and state of the art medical equipment.
The best thing of all is that each doctor we visited knew exactly what BBS is, how it affects each part of Lucy’s body, and was concerned about how all those parts fit together.
You just don’t get that anywhere else for these kids and it felt luxurious.
We were up bright and early to meet with our scheduling nurse Brenda at 7:10 and went from appointment until a little after 5. It was a long day.
We started with labs and an ultrasound for Lucy’s heart, a Cardiologist appointment followed by and echocardiogram and found out Lucy’s heart is perfect, (even if it’s on the wrong side…she has situs-invertis).
We went to Ophthalmology and found out nystagmus isn’t actually as common as we thought in BBS kids, and we will need that MRI. Thumbs down on that, but Lucy was pretty great about it all 🙂
We went to Physical Medicine where we realized there’s not much we can do to help turn Lucy’s outward-pointing feet but found out, completely unrelated, that she has scoliosis. And after an x-ray we found that it’s bad enough scoliosis that she may need to wear a brace. Shoot. Also not common in BBS kids. We visited with a Behavioral Health specialist where we found that Lucy is on the really good side of behavior compared to so many other kids and we should celebrate instead of worrying so much.
The last appointment of the day was with dear Dr. Haws the Nephrologist where we were overwhelmed once again at how wonderful he is and how grateful we are that he’s so willing to work so hard for these BBS kids. We learned that Lucy’s kidneys look perfect and are functioning perfectly. We sat and discussed all the things that are going on with the clinical registry and research right now since Dr. Haws is in-the-know about all that. Some of the things we hoped would be able to help Lucy’s eyesight may not work after all (which we kind of knew after the conference last summer), but there are some pretty hopeful things coming along for help with obesity. Only time will tell.
As we walked those hallways going from one doctor to the next my heart was so swollen up with gratitude for that “one-stop-shop” with hardly any waiting and incredibly conscientious doctors and staff who were so very helpful…there are not words to express my gratitude and what that means to Dave and me. To Lucy. To our family. And to so many other families.
Lucy was a pretty great sport through this whole thing. She was a self-described “trooper” as she wrote in her diary during the long ride back to Minneapolis (at the end of this post).