Tuesday, August 24, 2010

doctors and the NIH

I love good doctors.

Yes, I have had some trouble with some doctors in the past. There was the one who took a phone call on his cell phone from a friend right in the middle of discussing kidney functions with me. And there was an OB/GYN who told me flat out when I was pregnant with Claire that she had Spina Bifida. But really, I know that everyone has their off-days. I know sure do. So I don't expect doctors to be perfect. I just always seem to get my hopes up...maybe too high...that they will understand what we are dealing with. I want them to "speak my language."

I must say that the not-so-good doctors make me appreciate the really good ones even more. The good ones bring me to tears I'm so happy to have found them. They have helped us more than I can ever express. I'm so incredibly grateful for all the years of hard work they have put into research and study to help people like us.

I've been frustrated after many doctor visits not because of the doctors themselves, but because of the situation: I'm dealing with rare things they haven't dealt with before.

Claire, even after her little non-invasive surgery, is still having recurring UTIs (so incredibly sad, but true), and really, the doctor simply hasn't dealt with this much before...the success rate is usually so high. So we have to keep working on it, as frustrating as it is for both of us.

As for me, the mystery is still out as to why I would test positive for Lupus twice with no blatant symptoms. Although I'm not worried a bit about Lupus, per se, the doctors really recommended that I at least get to the bottom of why my kidneys aren't functioning properly. I know I need to follow up on that, but it just tends to get put on the back burner...everything else seems much more important.

And then there's Lucy. Her syndrome is rare enough that the first doctors we visited after we got her diagnosis had never had a patient with Bardet-Biedl before. When they came to meet Lucy and me in their offices for the first time most of them were clutching the basic BBS info. sheet from the Internet...the same one Dave and I had read when we got her diagnosis.

And that was so hard for me. I was looking for someone who knew more than I did. Someone who could tell me what to expect. Someone who knew how to really help us. Of course it's not their fault they didn't know what to tell me, or that all they could do was repeat the same information I had already read on the Internet. They had simply never dealt with it before.

Having a child with Bardet-Biedl can be very lonely sometimes...at least it was for me at first. No one knows really how to help. You can't know what to expect in the future for your child since every case is different. Even others dealing with the same syndrome have vastly varying takes on life and health concerns because each individual is affected so differently. And the doctors with various practices (endocrinology, nephrology, ophthalmology, genetics, pediatrics, radiology, audiology, orthopedics, etc.) don't necessarily work together, so you have to explain to one the same things another has told you (which sometimes gets all mixed up in the process) and you have to keep all the records straight so the same blood test doesn't get done more than once (this has happened a few times to us) and to enable each doctor to build on what the others have to contribute. It's been a tough, emotional, draining process.

So, you can only imagine how I felt when I finally got in touch a few months ago with some doctors at the National Institute of Health. I knew they were doing a study on kids with BBS and I wanted so much for Lucy to be involved...any help we can get is so promising.

The day I finally talked to one of the main genetic counselors there I felt like I'm sure I'd feel after having been lost in a foreign country and FINALLY finding someone who speaks English. This woman was speaking my language. And nothing feels so good after wading through so much medical mumbo jumbo that just didn't make sense for so long.

As this woman explained what, exactly, they are doing with this study and as I explained the tests and procedures I really hope Lucy will be able to have at some point it was like all the stars were aligning and all was right in the world. I understood her. She understood me. And we discovered that this was a good match.

I have been on cloud nine ever since. I'm so excited to meet a team of doctors who have studied and worked with numerous kids who have the same issues Lucy is facing. I'm so excited that those specialists will consult with each other...from so many different medical fields...specifically about my daughter. I'm so excited that we'll be able to provide Lucy's doctors here in the desert with some good, substantial information from the tests she will have there. And that from there we will have such a good foundation to build on.

We were supposed to head out there last week (the National Institute of Health is in Bethesda, Maryland). But because the dates they found for us happened to be right as school was starting, Lucy was getting potty trained, Dave's work was particularly crazy, and I had a huge stake primary function with 300 girls I needed to be home for, we had to put it off for a month or so. I was dying that we couldn't make it right then (I'm SO compulsive anyway), but we'll all survive another few weeks 'til they can align all the dates again.

All of this makes me (and Dave too) thankful all over again for good doctors. Those great ones we have found here in the desert, and the ones we will soon get to meet.

Yes, I love good doctors.

21 comments:

  1. I'm so happy you've found such a great doctor for Lucy, you all deserve it! It's so much easier when a doctor describes symptoms and effects in a way that you can understand. I find that when they use all their medical terms that I've never heard, I feel way out of my depth.

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  2. I wanted to comment because of your Claire. I have dealt with UTI's since a child had surgery, kind of helped. Major problems in pregnancy. I have found a few things that really help. If you are still looking for things email me at clintblake@yahoo.com. I found your blog through a friend, and was so excited because I too live in the desert like you (St. George) and I have seen things from your parents (books). Let me know if you want to hear what has worked for me with a lot of trial and error. Toby

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  3. This is such great news Shawni! So sorry about the continuing UTI's with Claire...So frustrating. All your hard work is paying off! Take care, Christine

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  4. Good doctors are so important. My oldest had open-heart surgery as a newborn and sees a pediatric cardiologist every year. We love her. My youngest has Aspergers and he has a developmental pediatrician who we like so much. We've dealt with therapists for years with him and having good medical professionals as well as educational professionals makes the biggest difference.

    I'm so glad you've found someone who can work with you and Lucy. I hope you can find the same thing for Claire.

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  5. That is amazing! What a fantastic resource you have discovered for Lucy. I understand what a relief it can be to have someone available who is willing to look at all the pieces of the puzzle and attempt to put them together into cohesive shape. Good luck in Maryland!

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  6. I'm so happy you've found what you've been praying for. Lucy is so very blessed to have such tenacious and committed parents. I'm sorry Claire is still battling the UTI's, but I believe a solution is just around the corner! Praying for you and yours in Colorado:)!

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  7. yea! I so understand this one!!! Keep pushing on, someone out there is going to know something and it sounds like you are going in the right direction.

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  8. This is wonderful news for you all and especially for Lucy. Good doctors are the best.

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  9. Oh, I'm so happy for you that you found someone who speaks the same language!!! So very happy! This will make such a big difference for Lucy AND for YOU! Praise the Lord!

    And poor Claire, right now I can feel for her. Dealing with some of the same issues....but for a child, so sad! Pray her issues are resolved soon.

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  10. It is true, I think there is nothing as christlike as a doctor who truly understands the healer's art.
    And there's the other side of that coin also. ;)

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  11. Wow what great news! I remember feeling this way when we finally decided to go through the invitro process. Good doctors and nurses are EVERYTHING!!!
    How exciting to have found this team!

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  12. I've been thinking about this topic since I saw someone comment on some post of yours about how her husband is a doctor and doesn't like parents to think they know than him with training...I wanted to comment then but didn't and just have to now. I get to see both sides of the fence as I am married to a doctor and also have 2 children with a rare nueromuscular disease. He is an AMAZING doctor, but there are some things with our children that he is learning right along with me and some things I have taught him because of my all day interaction with our children. So, I just really wanted to say, "Hooray! for good doctors. I mean what would we do without them and all they do to help our kids? But yes, glad we can have intuition and the promptings of the Holy Ghost to help us also know what direction we need to take with our kids." Does that make sense? Thanks for being such a great example to me.

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  13. I know you must be so relieved! I have been reading your blog for a good while, but rarely comment because i am lazy and use google reader :) Today's post deserves a comment though. We live very close to bethesda and I'd totally invite you to stay with us because i feel like I know you, but that might be creepy since you don't know me a bit :)
    Anyway, our MOMS club regularly serves meals at the NIH family lodge. It is a wonderful place that provides lodging for families of children that are undergoing testing or treatment at NIH. It is free and that is HUGE considering the cost of a hotel in these parts is usually in the $200 a night range. I am happy to give you any info I have about the area or anything else you may need while you're here. You can contact me through our blog.
    Best Wishes!
    Holly

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  14. That has got to feel soooo good! Sorry you have to wait, but it will still be a good thing for your life, right?

    How did you test positive for lupus with just kidney issues? There is a lot more involved than that...my sister has it...it's an ugly disease. Hope you're feeling well!

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  16. That's great news about Lucy! I've been reading your blog since April and have never commented before, but felt compelled to on this post.

    Good doctors are VERY hard to come by so hold on to these with all your life. I've seen over 30 doctors for a complicated gastro- intestinal problem and still haven't found the right match! I can certainly relate to the frustrations you have in regards to them.

    Good luck with all of your future medical endeavors! :)

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  17. I understand exactly what you're going through. When my youngest was diagnosed with Alpha-1, his pediatrician spent nights reading about it in every book and on every website he could find. It's nothing he had dealt with before. Luckily Alpha-1 is not totally unknown, and we were able to get lined up with specialists who knew exactly what to do. But it was so frustrating and scary at first!

    I'm so happy for you that you've found this study! I sure hope that it all works out as you wish it will!

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  18. MAN! You're a trooper!
    But I'm really worried about your lupus tests......that's so weird!
    BTW, how's your Saturday looking? I'm planning on a back-to-school fashion shoot starting about noonish......let me know.

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  19. Yay that is fabulous news!! And I know how you feel - my daughter has a 1 in 200,000 condition and we met with some bad doctors, some doctors with good intentions who just didn't know much, until we made phone calls and traveled around the country to finally find the best doctor to treat her.

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  20. We need to know more! I didn't know you were going right now! This will be fantastic and it will be so great to hear how it matches up with what they told us at the BBS Conference.

    Hooray!

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  21. Hi there! Do you have more information on the NIH study? My son Zac has BBS and I'd love to get him in on it if it will help with research. My email address is emily.whittemore@gmail.com

    Thanks!

    Emily Whittemore

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