Saturday, March 5, 2011

More information, and a Yoplait winner!

First off, congratulations to Joan's Blessings - you are the winner of the Yoplait giveaway! Please email me your name and address. MyBlogSpark will then mail you your gift pack. :)

Okay, so I took a few days to stew over what the metabolic dr talked to me about, and I am in a better place with it. We know that Emily has some genetic condition that is yet to be diagnosed, this is not a surprise. We know that it is causing her to decline lately, that is obvious. The seizures are the biggest cause of her regression right now. Hopefully once we get the VNS placed and turned on, we will see some relief of them.

We see the geneticist on Friday. I am supposed to tell her that the metabolic dr thinks we should re-run her micro-array. It was done 4 years ago and the test now detects so many different genetic mutations than it did 4 years ago. Also he wants her to re-run Emily's SCN1A test. It was done by UCLA at a lab that is evidently notorious for wonky results. It came back with a mutation, which could explain Emily's Lennox-Gastaut Syndrome. Unfortunately, it's an "unknown mutation" so it could also mean nothing. Hopefully if we rerun this test through Baylor University, where we do all our metabolic labs through, it will come back with more information. Or perhaps the geneticist will be able to interpret the results we have - we'll see on Friday.

We go back to metabolics in 3 months. He would like to order a High ThroughPut Mitochondrial Screening. He said that it tests over 700 mito genes. The other thing he wants to do is try and get us in a trial of a Whole Genome Sequencing test, that's for the whole family. The affected child, non-affected sibling, and both parents. Neither of these tests would give us a diagnosis that would be curable. At this point, we get that. Whatever Emily has is not something that can be cured. All we can do, and will do, is treat her medical conditions as they come. Make sure she is happy and comfortable. And spend every minute of every day loving on her.

The High ThroughPut test right now costs about $16,000. He said our insurance may cover it, but may not. If we wait 6-12 months, Baylor is going to offer the same test and he thinks it will only be about $5000. The insurance should approve that no problem. Every time we've done gene sequencing (they isolate and sequence one gene, that is how we got her SCAD Deficiency diagnosis confirmed) it costs about $2000. Wow! We've done tests for Angelman Syndrome, CDKL5, MeCP2, FOXsomethingforrett, Cornelia deLange Syndrome, Ethylmalonic Encephalopathy, and on and on and on.

The metabolic dr said that of his 3000 or so patients, Emily is one of the top 5 who have had the most testing done without getting a diagnosis. Wow. She really is a mystery.

So that's a bit more of an explanation of our appointment last Thursday. It was not a fun appointment. Oh, and her weight is down to 28 pounds now. She's 39" long. 7 years old - 28 pounds. She is SO skinny now. We are working on how to add more calories to her blenderized diet during the day. Our dietician is great, we are lucky to have someone who approves of our blenderized diet.

This is a busy week. My mother-in-law is coming in tomorrow for a few days. Jacob has Robotics Club after school this week, for a competition at JPL next week. That is exciting! Add in his regular tennis lessons, Emily's regular appointments, etc .... I am going to need a nap through-out the week for sure!

Lastly, I have Emily's room almost completely redone now thanks to Make a Wish. They had delivered the last items last weekend, but I didn't get a chance until today to get it all put together. I will try and get some pictures tomorrow to share. Her room looks great!! :)


Our Family said...

wow that is a lot! while you may not get a curable diagnosis, i would think at least knowing what is wrong would take some weight off your shoulders. you carry a lot on them. give that girl a hug from me and rachel.

Lucia said...

Give Emily a big hug from me - she deserves it, after everything she's gone through. Seizures suck! I hope she is more comfortable and safer in her new bed! And hugs for you and the rest of your family too as well, y'all deserve it too! You are such a great mom! Dealing with Emily's many medical issues must be very difficult and stressing. I hope you take time for yourself and relax. I wish I was rich, cause then I'd send you to a nice swanky resort with a SPA and massages and everything for a weekend for you and your husband! I hope Emily is happy with her new bed. She's a beautiful girl and I love her big curly hair which I love! She's also so cute too! <3 Love to ya and your wonderful family!


Bless her is so hard not knowing. We recently had genetic testing done again on the teenager at the insistence of her neurologist. She hadn't had it in 16 years! The tests are so much more sophisticated now...It showd an arm extension on #5 of 0.38. 0.5 is considered significant. They still have no idea why she is the way she is. We are no further along.