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.

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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.