Friday, October 14, 2011

Genetics and Neuro consults

So Wednesday, Addison saw the neuro, she slept for 2.5 hours on the drive there and was totally energetic and perfect while there. She's like "Oh she is nowhere NEAR as low-tone as everyone's reports say..." and Addison proceeded to babble two or three syllables while there (she babbles maybe 4-5 times a day, and the only sound is the "Da" sound most of the time - they evaluated her speech at a 0-3 month level). She even pointed and said "Dat!" at winnie the pooh on the wall. It was beyond frustrating, here i am amazed that she is having a 'good day' and then the Neuro of course thinks we are nuts because 3 therapists have reported that she's severely delayed and hypertonic, and lethargic. I left feeling like she didnt believe one word I said about how bad things have declined in the past 3-4 months. I know she very occassionally has a good spell where she has much better tone and strength and energy, but its never happened on a day we had such an important appointment. It was beyond frustrating. Thankfully she still noted definite regressions in speech and ordered the MRI anyway.
Next was our first consultation with the new geneticist, and we loved him instantly. They gave Addison a teddy bear (anyone else feel like "oh crap, you know you have a really sick kid when the doctor you are seeing is handing out gifts?")  He was fantastic and listened to our entire long tale...without ever once making us feel like half the stuff we were saying wasn't important. We spent 90 minutes just talking about everything that had happened to her.
He examined her and in two minutes, pointed out she had several soft markers for different chromosomal issues. I'm thinking, we have been in SEVEN hospitals for these issues and seen like a zillion doctors and literally no one has ever noticed this?
He did not sugarcoat it for me - he said he can't tell me anything at all about what to expect until the MRI. If the MRI shows damage to her brain, and things have declined this much in the past 3 months, that things may "go downhill very quickly". He said he would do everything in his control to treat whatever it may be.
If MRI is clean, then it gets trickier to figure out why she's regressing. There is more hope for improvement and a chance that she will ONLY regress with illness and not constantly all the time.
He said Mito is certainly a top suspect, and we told him we weren't thrilled about the prospect of a muscle biopsy. He agreed and left the room for 5 minutes....he came back in smiling and said, "I've gotta tell you, I have what I think is a brilliant idea. We might be using little Addison here to pioneer something that could change the way we diagnose these types of conditions. Here's my idea.... if she has damaged mitochondria anywhere in her body, itll be where she is most symptomatic - her gut. So we biopsy the muscle there...except, AHA! The full thickness rectal biopsy HAS a tiny tiny amount of muscle in it already because the colon has smooth muscle lining!" He was so excited, and went on to say that he is going to attempt to unfreeze her old rectal biopsy and extract mitochondria from it. He said he has no idea if it will work or not, but he wants to try. I thought it was pretty darn awesome that he was thinking outside the box and also not wanting to put Addison through any more invasive stuff.
She is having the micro array (? I think thats what its called) and about 25 tubes of blood taken. The first test is a generic one for 4000 rare diseases, then he is going to compile a list of what he thinks he wants to test for in order of how much it appears to be similar to what she has. The initial bloodwork will take 1-2 weeks to get back. They are doing an MRI next week and he offered to draw a bunch of blood while she's asleep so they don't have to hurt her, which I thought was really nice. He was sooo caring and fantastic, we are really just finally glad to hear someone say they are committed to helping us.

To make a long story short, i've develepod a cardiac problem with my pregnancy. Whenever I am sitting, standing or walking around, my heart races and heart rate (and probably baby's too) goes dangerously high. So until we can see the high risk OB and get an echocardiogram next week, im on strict bedrest. :( They think the only cure will be delivery, but they are hoping to find a drug I can take to keep it under control. The stupid ER wouldnt check on the babys heart rate since im only 12 weeks (they were really rude - "Its not like we can save your baby if its heart has stopped") so im anxious for monday so I can make sure baby is doing alright.


  1. Hello, I stumbled across your blog ... and I just went through and read Addison's story. Our girls are only 2 days apart so it really strikes a cord reading about everything that your family has been through. Your baby girl is BEAUTIFUL and her smile just lights up the screen. I will be praying for you and your family and that answers will be coming soon.

  2. This comment has been removed by a blog administrator.

  3. First read about your daughter on BBC praying for you that you get some answers and help..

    second.. my last pregnancy I had issues with SVT some times bringing my heart rate up to as high as 250 (at least 4 times) and usually around 160 resting was around 110) they gave me some meds about.starting about 15 weeks.. that brought it down a little.. but it was high all pregnancy.. Baby had no problems he was in fact born at 7'4 at 38 weeks due to my high heart rate..(250 that stayed high for over 45 minutes till they finally got it down so they did a c sectional though I was given the option of waiting another week.HUGS and yeah your heart racing does not mean babies is when my HR was 250 in the ER babies was normal and non stressed.even when they stopped my heart for a second to get it back down his was beating strong and normal.and yeah I had 9 months of "taking it easy" as my doctor said..