Thursday, April 9, 2009

Lucy update

Well, I think it's about time for an update about Lucy. If you are bored of all the Lucy stuff, please skip this. It's WAY more than you need to know. But many have asked and I need to write some of this down just to have it for me. Plus, I think I owe it to the "I Love Lucy" fan club.

About a month ago we got in to talk to the geneticist. I had to go without Dave because he was in China and there wasn't another opening for a month after that one. We were dying to get all the info. we could as quickly as we could. Luckily my parents were in town and they tagged along.

We three sat there in the doctor's office glued to what the genetic counselor had to tell us like it was some kind of intense action movie. She showed us all kinds of diagrams of DNA and chromosomes...things I crammed into my brain for tests in college and promptly let free again as soon as I left the testing center. We went over things like autosomal chromosomes, sequence variants, heterozygous zygamity and how the nucleotides had changed in Lucy's DNA when her blood was tested letting us know she has Bardet-Biedl.

As I sat there struggling to comprehend this foreign language I knew I had to quickly make my own, I couldn't help but get a little teary-eyed. Especially when the counselor went over the fact that Lucy has Bardet-Biedl because of what Dave and I "gave" to her. Of course, there was no preventing it, but as a mother you just know that you would do anything to keep something like this from your children. I wanted to take this away from her. I wanted to walk right out of that office and have life go back to how it was.

Since then I have made what seems like five hundred phone calls. I've talked to a myriad of doctor specialists, different therapy offices, the Foundation for the Blind, the nutritionist...calls about diabetes, rod-cone dystrophy, and all kinds of calls and e-mails to and from others in similar situations. I've called every number I could get my hands on to help us keep our therapy. I had to call back a couple places each four times to make our appointments there near the same time (they are far away). I'm SO sick of the phone.

I'm overwhelmed. I love to hear the stories so many have to share, but it's like we can only take things in small increments in order to digest and understand it all. There are so many questions and concerns on our minds and it just seems like we'll never get to the end of them. Some days are great and we feel like we've got things under control, but others are tough.

The geneticist recommended these things:
  • get Lu to an endocrinologist (hormones)
  • take her to a nephrologist (kidneys)
  • see an opthamologist (to get a baseline reading on her eyesight and study her night blindness)
  • get an echo cardiogram
  • get a renal ultrasound
  • get a pelvic ultrasound
  • get a VCUG
It was interesting to sit in that geneticist office, not only to get armored with basic chromosomal information, but to realize that even our geneticist didn't know much about this syndrome. We knew that would be the case, it's so rare and she hasn't dealt with it before, but it was weird to hear my parents telling her things she didn't know (they've done SO much research on this). And I have to realize that will be the case in most of my doctor visits.

I've already experienced it a few times. And I don't like it. I want doctors to know what to tell me. I'm still having a tough time going in there and telling them what they need to know, hoping with all my heart they can help us. I had to explain to the endocrinologist that Lucy is at risk for diabetes insipidus (he had assured me the symptoms she has couldn't be right, and I had to show him from the internet the high incidence these kids have of it). When I called the nephrologist's office I realized I had no idea what to tell them. I need Lucy's kidneys checked, but I don't know which tests, I don't know what she can handle at this age. So I'm the one who has to make all the other phone calls to figure it out.

Each doctor, of course, wants blood work done (one of Lucy's favorite things), and follow-up appointments, and in turn, I'm sure, we'll be referred to additional doctors. (I know the routine...I've done it enough now.)

After visiting the opthamologist on Monday I was reassured, once again, that Lucy does NOT like to sit still. Not for a minute. Not for a second. And there's no way she'll cooperate with lying on a table and having people prod and poke her. That stuff brings out her fire. So I'm canceling her appointments for those last four things. We're just going to have to wait. They don't sedate kids for those things, nor would I want them to. Eventually she'll start to understand sitting still and listening to directions (I think) and we're just going to have to wait to get those readings until then. I'm taking control...very gradually.

We are so thankful to have a diagnosis so we can know what to look for, and the basics, but we realize we only know the tip of the iceberg. There's SO much to learn and so much to understand. We feel like it's the most amazing blessing we could ever ask for that we found our new dear friend across the country with a son with Bardet-Biedl. He has given us much more information than any doctor or any research we've found. We are SO thankful for him and his family.

Each time I start to feel like Lucy's making progress and doing great, something will happen to make me realize how far behind she is. In the waiting room in a doctor's office last week a little boy pointed to Lucy and said, "that's a dumb baby." And it broke my heart. I know he was just little and didn't know any better, but it made me realize once again, we have a lot of work to do, and it made me worry about all the things that she's going to go through in life.

I look back at that claustrophobic feeling I had at the geneticist's office of wishing this could all go away. But I realize I wanted to take it away because at that time I could only see a sliver of the "big picture" that I'm starting to see more of every day. I'm starting to see more and more of the parts that are good. We are learning so much. And Lu is surrounded on every side by pure love. Not only are Lucy's siblings so helpful and sweet with her, their friends and all her cousins are so good with her I can hardly stand how cute it is.

We have been so showered with love from so many. I still keep getting e-mails about how much Lucy is loved, gifts in the mail for her, and we can feel so many prayers coming our way. One amazing fellow blogger even put together this little slideshow of Lucy from pictures she gathered from this blog and I can't resist posting it.

(login name: lucy Password: lucy)

I'm just overwhelmed about how kind people are. And that's what's gonna get us through the sad times.

Thank you from the bottom of my heart.


  1. My goodness Shawni. At least you've had a ton of experience with doctors and specialists before so you know the right things to say, ask, and demand! Oh I am overwhelmed just reading your post but I know if anyone can handle is you and Dave. Please know you're always in our prayers. So glad you had fun with Steve and Kara as well as Uncle Bob and Aunt Marva visiting! I'm sure they were all so excited to get out of the unpredictable weather of the midwest (midworst) and come back to AZ where it is normal. I actually have been reading a lot about Lucy's condition. I'm very interested so thanks for the updates. We love and care about her so much...even though we don't see you all as much as we'd like! Hope to soon! And GOOD LUCK ON EVERYTHING!
    ps...I still haven't bought your book but I swear I am soon!! Promise!

  2. I always felt privileged when Lucy wanted to sit on my lap in nursery...

    one thing's for certain, Lucy is a sweetheart. And I was always impressed with how loving your other children are with her. What a great family.

    I'm sorry that it feels so bad sometimes.

  3. WOW!! I feel overwhelmed and I am not living it. Shawni, I am so sorry. Whenever you need bread just call. The answers will come. You are an amazing mom and you have great instincts. Keep the faith and hang in there. Prayers are coming your way.

  4. I used to be a nurse for a pediatrician's office in Provo. In some cases we'd give kids versed up their nose to help them calm down during a procedure. Not only does it do that, but they also don't remember it later on.
    I haven't seen it done since then (although now I work labor and delivery) but something to perhaps mention if something REALLY needs to get done?
    BTW, I finished my blog book -- query it on my blog (blurb book) and it should come up. Delish.

  5. hi shawni-
    you may or may not remember me. i took one of your photography classes and i used to be a personal trainer to some of your friends. i have followed some of your blog since i took your class, and i am so sorry for what you are going through.

    i know you said you are overwhelmed with information but i can't get out of my mind something that might help your little one. have you ever heard of the company called young living? they use essential oils to help with healing and also they sell a juice that is amazing for anyone to drink, and it helps eyesight. i do not sell this product, but some people close to me do, and i believe in it. my whole family drinks the juice daily. anyway-if you want to know more email me, if not-no worries. i just feel better now that i told you. i think you are amazing and i wish you and your family the best.

    beth goodman

  6. Thank you for the perspective you have on life and your family. I am so glad you found that family to help you with all the questions you may have.

    It is true, doctors don't always give you the information you need. I may share my story about the neurologist's and my conversation on Tyler's genetic test at some point (not to make you feel overwhelmed).

    It's an overwhelming and amazing feeling of gratitude and love that you feel for your child and for all the people around you rallying for her success and wanting to help. Thank goodness for angel friends and family.

    I'm thinking and praying for sweet Lucy and your family!


  7. Shawni, I'm so grateful for blogging. What a beautiful slide show; Lucy and your familly are so lovely. I am certain that the story you are sharing is inspirational to a multitude of people. Hang in there sweet mom! Love,

  8. Yje President of the "Lucy fan club" is glad you updated on her condition. I have been reading a lot about it and want you to know she has tons of love coming from Chi-town.

  9. Thanks for the update, Shawni.
    I still think you ought to make some "I (heart) Lucy" shirts and sell them!
    I'd be happy to do it for you!!! All proceeds go to the Lucy Fun(d).

  10. I am always glad to read your updates. You are doing so much for Miss Lu!

    I know first hand 3 or 4 (or 5 or 16)AWESOME peds cardiologists. I even have a favorite echo tech or two. So email me if you want specific names. We have been with the same office (there are over 20 docs) for over 6 years and I love love love them! Az Pediatric Cardiologist Consultants. They have a bunch of offices.

  11. Shawni I am always amazed at how strong you are and what a great attitude you have. I love to hear all your Lucy updates and can't even tell you how her little story has touched my heart. I tell all my girlfriends about her.I wish I had some wise advise or something but I don't. I just think you are the greatest mom ever and you have raised such great and beautiful (inside and out)kids! I wish I lived closer so I could help!
    You guys are in my thoughts and prayers!
    Oh and I am so jealous of all your girls and that you get to spend an evening with all of them coloring easter eggs! They look awesome! Have a great Easter!

  12. You know what is best for Lucy! Don't get bullied into having her see all of those doctors if she can't handle it. YOu are doing the right thing! It breaks my heart to read of your doctors office "comment" experience. Just keep us informed. On a lighter note, I saw your book today. That is going to be my Mother's Day present. I can't wait to read it!

  13. That reminds me of my life, but with Savannah and Xander we have been going through it all from the time they were born, and it seams like every doctor we go to, there is something new they find wrong, over and over again. I hate that I gave this syndrome to them and they have to go through all of their doctors visits, specialist, surgeries, and therapist so often. It seams never ending, and it's because of me. I hope that your Lucy is healthier and having better luck than Savannah and Xander. It is just so much. Sorry, I just read this on a bad day, and it made me sadder. I hope you and your family are doing well.


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