Happy Mother's Day

2014:
I get to be a mommy to these two beauties..and I am so lucky!

Diagnosis day 2014

May 16, 2014, diagnosis day. 3 years ago on this day Avery was diagnosed with Pompe disease. We will never forget that day, what we were doing, where we were etc. BUT the day is a complete blur if that makes any sense. Time has just gone by so fast, BUT everyday is the longest day of my life, again, this probably only makes sense to me. We are so very lucky for Avery to be as healthy as she is and as full of life as she is. Avery is doing fantastic and is only getting better with time! It is always a rough day to remember everything we have been through and to know how much more we have to face but every single day we are thankful for it all! We love our little Kay Kay so much and we will do whatever it takes to keep her strong and healthy!

6 month check for study

May 1, 2014
Check-up for Genzyme study for Lumizyme. She was in her cast this time so we were unable to do some things and some things will not be as accurate. It was noted she was in a cast for the pt exam. It usually takes about half the day at Children's Hospital to do all the testing. Avery gets a full physical therapy exam, an EKG, a echo cardiogram, blood work, has to leave a urine sample and gets checked by her genetics doctor. Avery is always a champ!

Pics of this day can be seen here:

https://www.flickr.com/photos/124015053@N03/sets/72157644365168709/

Fancy foot work?

We had been noticing Avery walking on the side of her right foot more and more. She was also really turning her foot in. One specific day the side of her foot was really irritated and red and she complained of pain. I iced it and she seemed fine after. That day at school her school therapist noticed how red and irritated it was and said it needed attention. So I emailed Dr. Dabrowski and sent him some pics and he got her in on the next Wednesday, 4-23-14  at 7a. He is amazing and squeezes us in whenever we need anything! He was really glad we brought her in. Avery had developed a bursa*. Dr. was also concerned about the turning in of her foot. The action we decided to take would be to do a series of serial casts*. What a bummer this would be for her:( So I called Kids in Motion where she does her private therapy to see if they did the casts and they do! What a relief! Avery would feel more comfortable there and so would I! The goal was/is to do about 4 to 6 casts, getting a new one every week. We are on week 4 and there has not been much change so far. She is doing fine in the cast and they really don't stop her. She does however get extremely tired and fast. I think it is from the extra weight of the cast and the extra work it takes to try to walk in it. I thought baths would be a problem and they have been a breeze. We will see what next Tuesday brings and see where we go from there. These are the pics we sent the Dr.

You  can see pictures of all her castings here:

 https://www.flickr.com/photos/124015053@N03/sets/ 

The finished product!

* A bursa (plural bursae) is a small fluid-filled sac lined by synovial membrane with an inner capillary layer of viscous fluid (similar in consistency to that of a raw egg white). It provides a cushion between bones and tendons and/or muscles around a joint. This helps to reduce friction between the bones and allows free movement. Bursae are filled with synovial fluid and are found around most major joints of the body.

*Serial casting is a noninvasive procedure that helps children and adults improve their range of motion so they can perform daily activities with less difficulty. It is a process in which a well-padded cast is used to immobilize a joint that is lacking full range of motion. The cast will be applied and removed on a weekly basis. Each cast gradually increases the range of motion in the affected joint.

Infusions: April 10, 2014 # 76, April 25, 2014 #77, May 8, 2014 #78, May 21, 2014 #79

Infusions, Infusions and more infusions! Avery is starting to get grumpy when I tell her we need to get her weight. The pharmacy texts the day before to get her current weight. This is red a flag for Avery and she knows what comes the next day. She is not scared of the poke or anything to do with the infusion, it is more the missing school part. She is devastated she has to miss school and not see her friends:( There really is not much we can do about it. I know she will understand with time. Avery is starting to require more info on why she needs infusions. The basic "to get strong and to be able to walk and do things" just is not cutting it. She realizes that no one else has to get these to be strong or to play or walk etc. That combined with missing school really ticks her off!
The actual infusions have been going well. She just wants to watch movies and eat junk food! Infusion #78 she threw a REALLY long tantrum because I wouldn't let her have a "snack" until she had lunch or fruit or something(she already had one junk treat)So that was ridiculous. It is VERY hard to discipline someone who for sure needs it but it is in her situation, on infusion day, she has an IV in her arm and I would feel like total crap doing anything drastic(like she needed, lol) Oh well, I didn't give in and she finally did what I asked but it made for a long afternoon. Poor Chelsea was probably ready to pull her hair out...me, I'm used to it:)
Infusion #79, today, two pokes. She took it like a champ! Plus I put a ton of numbing cream all over the area just in case this happens. Now she is watching Pinocchio, and eating carrots. Carrots only because she has already had a donut with sprinkles, string cheese, a cutie orange and green chips(aka sour cream and onion chips)it's 10am:)