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