Wednesday, March 15, 2017

a special date with our 10-year-old

A few months ago Lucy's left eye started to twitch.

And then it started to wiggle.  

And since that moment, it hasn't stopped.

When you look at her, that eye does it's own little dance.  And it's called nystagmus.

For some reason I thought that was a pretty normal thing for BBS kids, but even so, it scared me.  Was it a significant clue leading to more retinal degeneration?  Was it something she needed more powerful glasses to fix?  Was it something we could fix, or would it lead gradually to the other eye as well, both of them bouncing around rendering her unable to concentrate and learn and grow with those eyes with everything she knows in life thus far?

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.


We flew in on Sunday evening to Minneapolis, rented a car (where Lucy read me what it said in Braille on the pin pad and we were both pretty proud of that:
...and then drove for nearly three hours through tiny little towns marked with unique barns what seemed like every hundred yards or so...(I tried to take pictures as we whisked on by...)
...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).

More barns: 


The craziest thunderstorm I've ever seen (that was pretty scary)...

...a quick stop at the Mall of America to top everything off in a positive way...


...and then back home to some sisters...
...and a dog who sure missed her.

I think her diary wraps it up better than I can:

I sure love that trooper of ours.

42 comments:

  1. I hope you were/ are able to figure out what is wrong. Very scary. I must say you are blessed to have an amazing clinic like that available. I have a relatively rare genetic condition myself (very different from Lucy's) and I understand the frustration of doctors not understanding (or never having heard of) the condition. Also, very frustrating to know so much about a condition but not having the proper medical training to explain it perfectly. I can only imagine it is even more frustrating when it is your child and not you. I wish you all the best of luck!

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  2. I'm so glad The Marshfield Clinic and staff are able to help your sweet Lucy. Prayers for her and your family. I live in Wisconsin and my parents have received excellent care from Marshfield Clinic. Be glad it was only a thunderstorm while you were here, we got 9 inches of snow on Monday!

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  3. I just read that Lucy has scoliosis and may need to wear a brace, don't do that to her. I had to wear a brace for a while when I was younger and it was horrible. I hated every minute of it. My mom started doing research on other options besides the brace and we found the clear institute practices! It has been the best thing I have ever done and my curves actually decreased while I was going there! I go to a dr out in Colorado (I live in Utah) as there are only a few doctors in the nation with this specialized scoliosis certification. Check out their website, clear-insitute.org. Or for the Colorado office specifically their website is spinecorrectioncenter.com

    My mom and I would also love to talk to you more about if you would like! Email me at kaileymeacham@gmail.com

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  4. I had a form of scoliosis when I was 14 and wore a Milwaukee Brace for a year. Physical therapy would have helped me a lot more than a brace, but my parents chose otherwise. It was a blessing and a curse. Even though mine wasn't very bad, the experience taught me a lot about myself. (More than what I can explain here, let me know if you want details.) Good luck with this specifically and with everything in general. Lucy is an amazing soul!

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    1. I would love more details about this. We just had a doctor appointment and we are trying to figure out brace alternative. If you get this would you email me at sepphotography at gmail?

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  5. I'm not surprised at all that she's doing great behaviorally! That totally speaks to you Shawni. Without a doubt that's a result from the way you're raising her, her faith, her wonderful, supportive sisters and community in which you live. She is lucky. I can't imagine how hard this must be on you (or any parent with a child with a disability) but from an outsider perspective, you are doing an amazing job and setting a great example.

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  6. What a wonderful post! I love Lucy's note at then end and her amazing level of self awareness. I know you are all so proud of her. She's a true warrior princess. How wonderful that there's a whole clinic that specialize in helping Lucy and others with her syndrome! That's God in action for sure! I pray that all families will someday soon be able to have the excellent health care your family has. We're all rooting Lucy on!

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  7. Hi Shawni-this was a heartbreaking post but at the same time so beautiful as Lucy was given the perfect parents for her situation and I love your outlook and attitude. What a precious gift your family is! My daughter now 15 has scoliosis and was in brace for 3 yrs . It has been a long journey and we also went the spincor athletic brace route. What helped me most was having Emma talk to different people who had scolisis before she wore the brace and me to the moms. It was truly a lifesaver before I made the decision of which direction to take. We are a wealth of info over here on this topic and Emma has always loved Lucy by your blog:) it would be an honor an pleasure if you would email me at lifeworks@sympatico.ca. I email sometimes with Charity on various topics too. warmly and big mama heart hugs to you. Tarina

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    1. I'd love to hear more. I will email you.

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  8. I hope her MRI results are good.

    You have school 504/IEPs, doctor appointments, therapies, devices, church functions, school functions.. please take it easy on yourself. It's a lot.

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  9. Aww, bless her heart, she is a trooper! So glad you were able to go to the clinic and have everything checked out.

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  10. My daughter has scoliosis and wore a brace for a few years. She hated it but it saved her from surgery so, I consider that a win

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  12. Hi Shawni! I was diagnosed with scoliosis when I was 12. Mine was too severe and too high on my spine for bracing, so I had to have surgery. Anyways! I helped to start a support group for girls with scoliosis, these are peer lead groups that meet once a month. This allows parents to talk about scoliosis while their children are also talking about it with each other! If you search google for Curvy Girls Scoliosis, it is the first website that will come up. There is a group in Arizona, however I'm not sure how close it is to you! (For anyone else reading, there are groups all over the world!) There are emails on there too so you could even just talk to someone through that about what to expect! I hope you find this helpful! :)

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  13. Wow - what a lovely girl. That is such a bright light in a difficult and heart-wrenching situation, as are the talented and caring medical professionals. Lucy and those medical staff are great examples for all of us.

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  14. My brother has nystagmus, it affected him really young so it was really hard for him to play sports. (Imagine trying to see and hit a moving ball while your eyes are moving too). Growing up, he often read with his head slightly tilted because that was the position where his eyes moved the least and it was easiest for him. He's now a successful law professor so it didn't limit him in life. Glad to hear Lucy's vision has improved!

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  15. I read this post and my heart was with yours the entire time. I cannot believe she now has a couple of things uncomon to BBS kids on top of the BBS! And yet - you all continue to be so positive and full of hope, even if behind the scenes there are moments of worry and despair. Your family is loved the world over, I hope you feel it! xxx

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  16. That clinic is wonderful! My only thoughts were it would be great if it had more locations or at the very least more doctors with the knowledge across the board. Everyone doesn't have the means to travel or the insurance to cover such a wonderful facility. I just couldn't help thinking about the care those kids are getting as a result.

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    1. They are actually pretty awesome to help when people need help financially. I agree, I wish these clinics were all over but BBS is just so very rare so we feel pretty lucky to have this place!

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  17. Lucy is such a bright light and blessed with an amazing family. She reminds me so much of my daughter (age 11). I think they would be great friends. My daughter (the baby of the family as well) also has a medical condition involving vision, obesity, behavioral issues (lucky for us she is a sweetheart) and endocrine problems, called Optic Nerve Hypoplasia. She has nystagmus as well (although it is common in her medical condition). I am curious as to why children with Bardet-biedel have weight issues. Is it related to the hypothalamus, as it is with my daughter? I'd love to hear about the "hopeful things" being developed in that area.

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    1. PS- thank you for sharing your beautiful life with us, including the good times and the hard times.

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    2. I will have to share more when we get more details about these new studies. It would be interesting to compare notes on what's going on with our girls. email me At sepphotography at gmail if you get a chance.

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  18. Thank you for this post. My 15 year old son has severe autism and I read your blog scouring for ideas on how to parent him and how to create an environment in our home conducive to helping him progress. I always come away with inspiration and appreciate hearing of your experiences.

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  19. I hope this doesn't come across as too "crunchy" of a suggestion, but I had scoliosis and going to a chiropractor regularly made a huge difference -- it may be worth looking into before more intrusive methods. Good luck and hope you get some reassurance from the MRI!

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    1. We are looking into every option right now and this is one as well. Thank you, I so appreciate every suggestion! Xoxo

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  20. awww. not the 'special date' story I was expecting! gee, is Lucy blessed, most of all, with the parents and family she has. the windows of heaven are open on her. xo

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  21. awww. not the 'special date' story I was expecting! gee, is Lucy blessed, most of all, with the parents and family she has. the windows of heaven are open on her. xo

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  22. Even though we knew a lot of this, it's so great to see read every word and to see these pictures. Lucy is truly amazing! She is an extraordinary trooper! :)

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  23. Hi Shawni.... I also have followed your blog since Lucy was young. My daughter (now almost 40) was diagnosed w Stargardt's (a type of juvenile macular degeneration) at the age of 15. It affects the central vision and as she has gotten older, she has lost some of her peripheral vision. She explained that it is sort of like looking thru a colander (peripherally) and her central vision is like trying to look thru a blob of Vaseline. While it is not the same condition that affects Lucy, finding retinal specialists who have worked with patients diagnosed with Stargardts is difficult.
    Lucy will continue to amaze your family with her strengths! I have no doubt she will teach your family, classmates, friends and your community lessons in perseverance and demonstrate her adaptability by learning to complete daily tasks, schoolwork, and how to maneuver safely in all sorts of situations (crowds, hiking, bike riding, in a shopping mall, etc).
    Since my daughter lost her vision at an older age, she didn't learn Braille in high school, and initially relied on large print books, then progressed to being an auditory learner. She did take Braille lessons in her mid-20's, but maintaining the proficiency to read Braille was challenging with her work schedule and preparing to take the bar exam to attend law school. She relies on computer technology for work and her personal life. She and her husband (an attorney for the Dept of Justice, who is also blind) have a 9 month old baby girl.... we live on opposite sides of the coast, so FaceTime keeps us connected between visits.
    Yes, life can be frustrating for all of you.... and Lucy will have ups & downs, but she will adapt and show you "her way" of doing things. Other than not being able to drive, it seems like nothing has really stopped my daughter from "doing" anything. If you ever want to connect, email me!

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    1. I love this! Thank you so much for sharing!

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  24. According to the SAP, nystagmus occurs in about 10% of BBS patients.
    https://www.aao.org/pediatric-center-detail/bardet-biedl-syndrome-bbs

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  25. Shawni, I am so touched by this post. I am full of love for your darling Lucy, and for you as her "dragon mother" (not tiger, but dragon - which is one step above) :) She has the best parents, the best family, and support on every side. It's so tender to see how you love each other. Her diary entry speaks volumes. Sending love.

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  26. I just want to say that I feel so overwhelmed with gratitude for all these suggestions and love. Thank you so much to everyone for reaching out with help and advice it really means so much. We had an appointment yesterday and it was pretty tough because given Lucys sensory issues I just really don't know how to make a brace work (which is recommended). We are trying to explore all the options we can so all this helps a lot. Thank you, thank you!
    Xoxo

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  27. I was wondering if you could tell me more about the nephrologist working with Lucy's eyes.... are the kidneys tied into bbs ? My daughter has a very rare kidney disease and sees a pediatric nephrologist and its fascinating to me how incredibly smart they are ! I would love to hear more about bbs and how it ties to the kidneys :) I'm praying and looking forward to hearing good results of Lucy's mri !!!

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  28. You and Dave are such outstanding parents. I just feel so much love and intentionality and care in this post. So much respect for you all❤

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  29. My daughter had an X-ray that showed she had bad scoliosis. Our pediatrician was pretty sure she'd need to be braced. We went to a specialist who xray'd my daughter again (this X-ray included her hips and prior X-ray was higher up). It turned out her one leg is about 1/4" longer than the other. He put her shorter leg on a 1/4" block and re xray'd her and her spine was straight, no scoliosis. I'm just sharing bc I'd have never thought after seeing her spine in the original X-ray that she'd not need to be braced. I'm sure they knew what they were doing with your Lucy, but it's worth asking about. Best wishes.

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  30. This article is really helpful. I had problems with my eyesight and was taking retinitis pigmentosa treatment. It was effective and my eyesight got better than before.

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