Monday, April 04, 2011

And the Honorary Geneticist of the Year Award goes to....




Can I get a holla?  A high five?  A hip-hip-hooray?  Perhaps I should be more modest about this, but 'm sorry...I deserve some serious props for this one.  So check it... 

Many, many moons ago I had a feeling that something was wrong with Lamps stomach.  Remember that?  And then I went to a GI specialist at Children's hospital.  Remember?  I know you do, I'm just making sure.  

Here's what I didn't tell you.....before I went to the GI Doc I did a little internet searching. Obvs.  I tried to see if I could find anything that slightly related to Lamp's limbs and if there was possibly some relation to her stomach.  Through a friend of a friend of a friend I had been directed to a website for children with limb differences.  I had looked at this website before from time and time.  I read different stories about different kids and it was actually quite encouraging to see what all these amazing kids can do despite their limb differences.  Anyway, I happened upon one little girl's story, her name is Emily.  Emily was born with upper limb abnormalities, and it was also quickly discovered after her birth that she had problems with her stomach, she was eventually diagnosed with microgastria.  Microgastria is when the stomach is small and tubular instead of larger and pouch like.  It was finding this article about Emily that prompted me to have Lamp's stomach checked out.  

Eventually I was able to find more information about microgastria and was led to a condition called microgastria limb reduction complex.  Since it is so super-duper rare (the highest number of reported cases I could find is 16, some sources only saying 6) it was hard to find more info, but I was able to find a couple more articles about this condition--one in the official Journal of American Pediatrics.  I can't remember when I found these articles, but I know it was before we were going to a radiologist to have get some imaging of her stomach.  I remember walking into the room and the radiologist telling us, We can take a look, but we're really not going to be able to tell if her stomach is small.  I said, Well I read this article...  and before I could finish my sentence, he held his hand up to stop me and said, I'm sure you've read a lot of things....  and went on to once again dismiss and silence me.  I was mad.  It was rude and uncalled for.  But I kept talking and explained that I had read about "Microgastria" and suddenly his tune changed... Oh, well yes I could tell if she had microgastria, he said.  I was a little annoyed because why hadn't any of our Dr's used this term before?  Why was he so dismissive when clearly we've got a little girl who is synonymous with the word rare and yet somehow I'm off my rocker for thinking something could be off with her stomach?  Of course I know Doctors can't be aware of every single disorder and syndrome out there, but I really hated this constant dismissive attitude.  And well, we all know how the stomach thing turned out...I was right.  It was small.  So there.  

I eventually talked to Emily's mom (which is another story for another time).  Part of why I was so intrigued with Emily is that Lamp's upper limbs were eerily similar to Emily's.  When it comes to limb differences, no two people are alike...they're all a little different.  So to see another little girl with such similar upper limbs was an odd coincidence.  Anyway, Emily's mom emailed me an article that was published about her daughter whose complete diagnosis was again congenital microgastria-limb reduction complex.  So armed with my 3 articles and the original website posting on Emily we had a follow up appointment with our geneticist.  For those of you who don't know, a geneticist is the one who gives a diagnosis and for the record our geneticist has been great.  He reviewed the articles before we met.  When he came is he said that this syndrome was as close to anything he's seen to explain Lamp's condition.  It didn't fit perfectly, but not everything does.  He was going to look into it a little more, then get back to us.  

Last week we got a letter from genetics.  In part, here is what was said:

[Lamp] is a 8 m.o. with multiple limb reduction deformity.  The presence of the microgastria appears to be consistent with a rarely described entity 'congenital microgastria-limb reduction complex' of unknown etiology....


Boo.  Yeah.  

She has a diagnosis.  And who found it?  Her mommy.  

HOLLA!  

What does this diagnosis mean for her?  Not much really...like I said a diagnosis for Lamp doesn't really change the course of treatment or anything.  She will grow and develop at her own pace.  She will determine what she can and can't do.  So finding this diagnosis doesn't really give us much, except bragging rights.  Big, fat bragging rights.  

On a more serious note, it's more than that.  This experience helps me, and I hope others, to know that when it comes to our kids we are the ones in charge.  We need to trust our instincts, do our research and not let anyone--even very smart doctors--make us feel inadequate or leave us out of the loop.  And we definitely shouldn't let them solely determine the course for action for our children.  Please don't misunderstand me, doctors are wonderful and such a gift to our family.  Their input is invaluable and we're grateful for all the good they do for us and Lamp.  We need to listen to and respect the advice of good doctors.  All I'm saying is that I will not trust a doctor over my internal motherly wisdom.  It is more than intuition, more than a nagging feeling...somewhere deep in our bones we know things, we are wise.  I also happen to think it is in no small part of our divine role as parents and the stewardship Heavenly Father has given us over them.  As parents, we are our children's strongest and most powerful advocates.  

One last time...can I get a WHOOP-DI-WHOOP!


34 comments:

  1. Way to go! Mom's are the best advocates for sure.

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  2. Good job! It just goes to show, no one knows a child as well as a mother. Despite all the training a Dr has, mothers are always going to be more focused on, invested in, and sensitive to the needs of a child.

    I remember that I had diagnosed E with severe reflux long before his doctors finally came around to it. I got so tired of being dismissed, and hearing that 'colic' was normal, there was nothing we could do, blah, blah, blah.

    I can't help but think that if anyone starts to do their own research on limb abnormalities and stomach issues, your posts are going to be invaluable. :)

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  3. Woo hoo! for you and Lamp!

    Your kids are blessed to have you as a mother. Truly.

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  4. AMEN! Our experiences have not been as rare, which makes you even more awesome ( and makes our Dr. even more of a dissapointment :) but, when It comes down to it, mommy lions know, and NOTHING will stop us until we are at rest! You're the best advocate for baby Lamp.

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  5. This is so awesome! I know that is why we are mothers. I truly believe that the spirit whispers to us things about our kids. I know u already know this, I just thing this is great news.

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  6. Wow, way to diagnose! That's amazing. I love that you stood up to the doctors and you were RIGHT!!You should relish in this moment with something sugary...like magic shell...or more pie. Oh wait, are you still not doing the sugary thing? heehee

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  7. Doctors like that make me so, so angry.

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  8. HOLLA HOLLA BOO-YA BOMB DIGGITY! I think you are so much cooler now! I knew there was a good reason my bro married you. Ha ha. Seriously though that is freakin rad. And that pic is about the cutest thing I have ever seen.

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  9. since we have the same name, I'm going to give a big fat "ditto!" to erin's comment--it's what I was going to say =)

    you rock amy!!

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  10. Great job, and thanks for posting. :)

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  11. Boo Yeah! You really are the best mother Lamp could ever ask for! That's awesome you did so much research and discovered the name of her condition. You should be a physician yourself. The world needs more doctors who really care and listen!

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  12. I don't have a whole lot to say other than, "You go Girrrrl!"

    Before I even got to your last paragraph, I was already totally thinking about the lesson learned here: that moms truly know best for their children. We ARE the experts on our own children. It really is quite amazing and is such a cool and mysterious gift that God has given us as parents. This is awesome, I am so proud of you and it makes me to feel empowered myself as a mama! Again, YOU GO GIRL!

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  13. Yay! Way to be an advocate for Lamp. It must be a comfort to know that Lamp has an official diagnosis. You rock!

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  14. Linda P.5:38 PM

    Go Miggy! It's your birthday! Go Miggy! It's your birthday! Well, at least that's what we chant around here when we are expressing extreme approval!:D I am very proud of you for your diligence, and you go girl for not letting a doctor intimidate you! HOOOOOOOOOOOOOOOORAY for a mama magnifique!

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  15. Congratulations on Lamp's diagnosis. Knowledge is incredibly empowering, isn't it? Mom's are really more in tune with their children than anyone else can possibly hope to be. When a mom suspects something isn't right, doctors would do well to pay attention.

    I'm the one who first suspected our oldest son was bipolar and our middle son was dyslexic, and though they both initially got different diagnoses, eventually my intuition was proven correct.

    Way to be Lamp's advocate! She'll have the best chance for success in life because she has YOU for a mom.

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  16. Don't like Dr.s like that! but Yeah for you Mommy, Lamp is lucky to have you

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  17. Wow Miggy, that is amazing.

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  18. Anonymous9:54 PM

    Awesome Migs -- I'm proud of you!
    Jill

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  19. Great job! That's awesome. It didn't take me long working in health care to see that while doctors may know a lot, they don't know everything. Parents don't see the doctors back in the break rooms and work rooms looking up what drugs to give for certain things or what dosages are appropriate. They think that they just know. Also, doctors don't include parents on brainstorming sessions on what the heck they are going to do for kids when situations get a little sticky (which I've always thought was wrong). The only place where I've seen this differently was at Primary Children's Medical Center where they include the family more than I think most places would ever dare. I don't think they want families or patients to know that sometimes they just really don't know the answer.
    The way the doctor reacted to you was rude and totally inappropriate. I can tell you this much though having worked from "their side", there are a lot of crazy things posted on the internet. I'll never forget when one parent came with an article asking for a brain transplant using a shark brain for their baby. No one knew how to handle the situation because it was kind of weird, so sometimes doctors get inundated with parents bringing them articles from the internet (which usually are not sanctioned by any medical association). You ARE wise and smart and can discern between crazy stuff and valid articles. And I hate to say this, but not everyone can tell what is a valid medical article. But like I said, that guy was just down-right rude and medical professionals should always at least listen.
    I'm so glad that you feel so strongly about being Lamp's advocate. You soooo are. Parents really are the only consistent advocates that baby patients have in medical care plans.
    Just one last thing on my tirade here - as sad as this sounds, you have to jump through the hoops and do the rigamaroo now, but I promise that as you build your reputation as a smart, strong, and caring mother with the doctors and medical staff, they will come to respect your opinion more and more and include you more. (I'm sure they already include you a ton - but you just won't have to jump through as many hoops later on or 'prove' things to them - they will just take your word for it).
    If you ever know that a group of doctors are talking about about your child's condition, it is totally appropriate to ask if you can listen in and don't be afraid to ask questions. Medical professionals don't mind questions at all. They like answering them because it makes them feel smart. Even if it's a question that you already know the answer to, but you wonder if THEY know the answer to it. It's good to ask it. For what it's worth, just because of the way medical people are, I think the best way to be the best kind of advocate for a child is to ask the right kinds of questions (both for your knowledge sake and to make sure they know what's up).

    Sorry for my long-winded and maybe even rude answer. I don't mean to be rude. I just feel so strongly about this having worked in the NICU/PICU setting for 6 years. Both of your children are adorable and your pictures have been turning out especially great lately.

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  20. Wow. Just saw how long that comment was. Sorry. Should have just sent you an email.

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  21. Good for you and good for not stopping your search for your answers!!!

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  22. WAY TO GO MAMA! I love your blog, my mom told me about it, and I love to follow your little family...I have had the same experience with doctors. And it is sooo satisfying :) My son is severely Autistic and I thought that he may have seizures...they told me there was no way, but they checked him and sure enough, SEVERE Epilepsy was the diagnosis. A year later I thought he may have a rare muscle disease...we got some testing privately because the doctors refused to listen to me. Turned out, once again, that I was right. The most exciting one was when I thought my kids had Celiac Disease. The GI doctor screamed at me that there was no way they had it, and I was a horrible mother for putting them on a Gluten Free diet. She was going to PROVE me wrong, by testing them. I got a very panicked call a few weeks later. Her nurse said that they had Celiac and I needed to star the diet that day and they needed to be on it for Life. I said "They are already on it. They have been for 2 1/2 years. I already knew they had it. The doctor was just unwilling to believe that a Mom could actually figure it out" The nurse was stunned, but relieved. Doctor's don't seem to realize that MOMs are given a special gift to care and nurture their children and take care of their needs (whatever they may be) and that includes, finding the problems so they can be treated :)

    Good Luck! You are doing a great job! Keep those doctors in line :)

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  23. You are so right! Our stewardship of our children does give us wisdom and instincts that can defy logic! And strengths that go against nature, to be sure:)
    Way to go, Mama Bear! Your girls are so lucky to have such an observant and loving Mom:)
    xoxo, Suz

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  24. Way to go! Like you pointed out, no one, not even a highly trained and motivated dr, is going to spend the amount of time researching a particular problem than a parent will. I'll never forget admitting a teenager to the hospital one night in renal failure who's dad said "I wonder if it is this particular medication. . . " I had never heard of the interaction before but he was totally right! It's all about dialogue, us doctors need a serious dose of humilty sometimes, our patients and their families sometimes really do have a lot to teach us (and other times they are really just crazy. . but even those families deserve respect :) )

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  25. That is awesome! :) You should be very proud of yourself. If we were able to get a diagnosis for my daughter, who is 7 years old now, I would definitely be WOOPWOOPing it up too!!

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  26. Like I have heard it said before: "There is nothing so powerful as a righteous mother's prayer."

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  28. I was overjoyed and laughed all the way through this post. Fabulous job finding the diagnosis. I have to play devil's advocate though for a minute...your interaction with the radiologist reminded me of Justin always saying that 90 percent of what patients tell him is redundant and a waste of time, and coming from him who really does care a lot about patient care makes me kind of believe him, so don't be too hard on doctors because there are definitely more people out there who have no idea what they're talking about than who actually do when it comes to their own diagnosis. In Justin's case, he is overloaded with way more patients than one resident should have to attend to, so it's easy to understand why they just turn a def ear to people who have ideas about their condition...and this is their training. They all go through this horrible period and they are basically trained to not listen to patients as they are worked to death. I totally agree with you that he should have listened to you, but he probably stopped 9 other people with big ideas of what was wrong with them who did not end up being right. For Justin, spending 5 minutes less with his patients every day means that he actually might get to come home to see his children before they go to bed or eat some real food for dinner. You can see why I'm torn. I am, however, overwhelmingly happy for you and I love reading your blog. I hope you're not offended. Sometimes I just like a good debate:) Anyone want to indulge me?

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  29. Well, they always did say that 'Mother knows best'...
    Well done for sticking to your guns, and pushing and pushing until you got the proff you needed.

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  30. Wow I really appreciate each and every comment.

    Malesa and Amelia--I hear you...it's good to be reminded that Dr's probably get their share of crazy talk and thus it's not always easy to seperate the sane from the insane. Malesa--a SHARK brain??? That's nuts. Seriously.

    I just want to reiterate again that I'm certainly not anti-Doctor...they're amazing and we're very lucky to have the great health care we have living in America. But as moms we need to stand up and speak up if we disagree with a course of action the Dr has recommended. If you feel something is not right, listen to that feeling...and speak up.

    Thanks everyone!

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  31. Loved this post! I also enjoyed reading all of the comments. There is just truly NOTHING better for a child than its mother! Way to be, Miggy!

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  32. Anonymous12:38 PM

    Dear Miggy,

    Or should I say "Dr. Mom"! Great job... Way to use that Bachelor of Fine Arts degree for medical research...(Who says creative people can't do science?)
    And just keep trusting your instincts.... Sparkle Pants & Lamp are lucky to have you as a mom!

    God gives Mothers special gifts.

    Love,
    G.G.

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  33. Impressive! I am a genetic counselor and I worked in pediatrics for many years. I always, always thought (think!) it is important to listen to parents - they are quite determined and know their child better than anyone. Now that I have my own child, I get it. :) Miss Lamp is quite the beauty - thanks for sharing your family.

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  34. Wow...great job!!! Eventhough it doesn't change anything, I am sure it is a comfort to at least know what the condition is and what to call it. Good for you. I work in health care and I always tell people that they are their loved ones advocates and to say and ask ANYTHING they feel they need to. It is important to do that especially for your children who don't have a voice. Good for you.

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