Avery riding a horse

I still can hardly believe that this little one didn't walk on her own last year at this time. She can and has been able to for a while now, climb on the horse and ride it without help! Amazing! Look at that strength! Before I had to hold her and help her on or she would have just flopped over. GO AVERY! You make Mommy proud every single day! And I can't help but mention big sister Mya. Mya is such a big, big helper and wants to do anything to help with Avery's therapy. They are both lucky to have each other!

Infusion 40, 11-21-12

Today went pretty good. 1 poke and minimal fussiness. I bribed/distracted her with a blue sucker and cat in the hat books! Wade held her which made it way easier. About 1/3 of the way through the IV began to leak so we had to take the tape off which is one of the worst parts for Avery. Chelsea was able to fix it without having to redo the IV...thank goodness! Avery had a pretty grumpy morning again. She actually requested to take a nap. An early nap and lots of snacks made for a much happier kiddo! The rest of the infusion went smooth. It was really nice to have Wade home for the infusion.

Infusion 39, 11-8-12

Another rough start..2 pokes :( I held her for the first one then Wade took over. She was just so sad and crying and fighting it so much. Standing there while Wade was holding her I felt so helpless. I tried to do anything to make her happy and she wasn't having it. Understandable! We finally gave her a dum dum sucker and that calmed her down a little. It is amazing what one little lollipop can do ;) The rest of the infusion was smooth. She took an early nap and slept for over an hour...much needed! The only other rough part is taking the tape off at the end. She hates it so much. She picked a Scooby Doo Band-Aid to cover her two ouchies. We have like 10 boxes of Band-Aids so she can pick her favorite. I am always on the lookout for cute new bandages..so keep your eyes open for us! We have Angry Birds, Elmo/Sesame Street, Curious George, Scooby Doo, Dora..and that is as far as my memory goes!! HA HA! We do our next infusion the Wednesday before Thanksgiving. Wade is off work so he will be able to hold her. Mya will be going to school then to Grandma and Grandpa Nagelkirk's house.

Infusion 38 October 26, 2012

We are off to a rough start today. 4 pokes. :( Chelsea just couldn't get it today. She said her veins were good and she wasn't moving or anything but she just couldn't get it to take. She felt awful and she usually gets it on the first poke. I was sick about it and Avery was so upset. We stopped and took a break and had a snack and a sucker before the 4th and final attempt. Phew..we are up and running now and things are going great. She had grapes and peanut butter toast for lunch. She also had blue chips and bunny graham crackers for snacks. We've watched tons of TV so far and are currently watching Barney. A nap is in the near future for Miss Avery! Today more than ever....I wish I could take Pompe away from her. She is such a brave little girl!

Avery Kay turns 3

Avery turned 3 on October 8th! What a reason to celebrate!! Our gift to her was a trip to Disney on Ice. Avery loved it! Daddy, Mommy, Mya, Avery, Mandy, Lillian and Ross all went. The show was amazing and we followed the show with dinner at Rainforest Cafe. The girls all loved it!
Avery's birthday party was on Sunday, October 7th. It was a Halloween themed party. Lots of family and friends came to celebrate with us! Avery is one lucky little girl! Lots of amazing gifts and so much fun!

Avery going head first down the slide!

Invites, thank you notes and most pictures taken by Crawford Creations

Infusion 37, Oct. 11, 2012

This infusion went great! 1 poke and no tears. I was like the perfect day. It went really fast and smooth! Avery even had an over an hour nap! We didn't turn the TV on once because we were so busy playing. Chelsea brought Avery a birthday present that included play doh, an Elmo puzzle that we put together a thousand times :) a little Elmo computer, and the book Brown Bear, Brown Bear. Avery loved everything so much!!

School days, school days!!

Avery is doing AMAZING in school! She is just a little singer! She literally comes home daily singing a song. I love that her teacher feels that singing these songs is so important. Avery is really, really quiet...at first. She didn't talk for the first two days of school and finally on the third day the teacher and helpers said she finally talked. That doesn't surprise me at all. One reason I'm so thankful for all the music. If she feels she can't talk as much then singing she must do! The first two weeks of school we feel Avery regressed in her speech at home. She was talking a lot of baby talk and just making sounds. We thought it could be from several reasons and really had us worried. Should we pull her out of school...is this more harmful than not? I talked to her OT at school as she said she noticed no difference in her at school. So this was just happening at home. Was it her age, was it her being away from Momma, was it because this school thing was so new to her? We also thought maybe it was because she is in such a diverse room with so many different "disabilities" maybe other kids not talking or talking like a baby or using sounds influenced her?  Well after all that worrying it was just a short phase and we may never know why. She is back to being chatty. Today her teacher and every single helper personally told me that she literally would not stop talking today. AWESOME!! I really just feel like she is getting so much out of this schooling and to think I was considering not sending her or maybe pulling her out. She knows all the names of everyone in her class and talks about them and wants to have them over for play dates! Adorable! She is repeating things that I would never say, good things that I know she is getting from there. LOL! I am SO proud of her! Avery's strength, her ability and the devotion that she has is 100% incredible. She doesn't stop and loves the bus and school! Remembering, she is only 2! WOW!!!

Infusion 36, September 28, 2012

Friday this time. It was the smoothest, quickest infusion ever. One poke with a few big crocodile tears :( then we were on our way. Wade held her this time again which is a good thing. She is getting really strong. Avery ate her usual peanut butter toast, blue chips and whatever else she wanted!! We played play doh for awhile and of course that made Avery so happy! She did really great at carrying her backpack everywhere she went. She even knows that she has to get her Elmo backpack before the infusion starts! So cute! It seemed to go really super duper fast! It is so nice to be home doing these infusions.

Infusion 35, September 13, 2012

Thursday infusion..and we tried it after school. I was hesitant to do an infusion after school because I thought Avery would be way too tired. Well, there really was no difference. It was a rough start this time due to two pokes :( Wade was holding her thank goodness. It really wasn't Chelsea's fault ..hard to explain but the thing that you pull down on that pulls the needle out once the iv is in stuck so we had to redo. NOT GOOD. Poor thing. We were all sweating and Chelsea felt so bad. Bottom line is we got it on try 2 and the rest of the infusion went great. Avery just had lunch then took about an hour nap, same as usual. It was nice that she didn't have to miss school to get her infusion.

New Braces!

They have arrived...beautiful blue braces that fit so much better!. Avery was so proud that she picked the color...blue! So with new braces comes the dreaded shoe shopping. Rarely do you hear a woman saying that but.....I dread it with these braces. It is nearly impossible to find good fitting shoes. And more than one pair! AND...we did it with the help of For Feets Sake in Milford. We found two pair of shoes and winter boots for Avery. Also, miss Mya got to get 2 new pair of shoes and some boots too! We are ready for the school year, finally! and ready for the snow now too :)

Infusion 34, 8-30-12

A rough one for Avery. She is starting to know and realize what is going on and is putting the chain of events together. This time when it was time to get her IV she ran away from me and kept pushing me away. It was different than ever before. She was just crying and screaming and I could barely hold her. What a nightmare. It was at this very second I realized it was time..time for a port. Avery has done great without one really up until this last time. I just could not stop crying. I just know/knew it was time. Breaks my heart for this little girl. I know the positives, and negatives for that matter of having a port and I just didn't want Avery to have to go through a surgery. And to have the port as a constant reminder on top of all the other daily reminders is just not what I want for her :(  So at this point it is up to us. What we think is best for her. We are gonna do her infusion this Thursday and see how it goes. We know at some point it will have to happen but not sure if we are quite ready. Other than the beginning tears and my tears all day whenever I would bring it up or think about it, the day went good. Avery wore her matching scrubs like Chelsea and had a ball playing with her new medical kit ALL DAY LONG! If she is not a nurse or doctor..I will be surprised!

Pulmonology, August 2012

We had an appointment with pulmonology this week. They moved to the new specialty building along with the infusion suite. The building is AMAZING! http://www.childrensdmc.org/SpecialtyCenter-Detroit.  Her appointment was quick. He was SUPER impressed with her improvement. He seemed a little hesitant about her going to school because of the germs. I explained to him she went to school a day a week last year and also goes to daycare once a week. His reply...do not hesitate to go to your pediatrician and get an antibiotic if needed as soon as you see symptoms. Our whole family should also have a flu shot before November. He told us to keep up the good work and he will see her in a year! WOHOOOO! LOVE appointments with good news! So after our appointment of course we had to stop and visit our infusion nurses. Karen, Aracely and Tenay(it is horrible but I don't know how to spell her name) were there. They were so happy to see us and Mya got to meet them for the first time. They were shocked at how Avery has grown and how great she looks! We didn't stay long as they were busy with patients so we raided the fridge and took off. Just kidding..but they did have yummy snacks and juice!

New braces are on the way!

We had our casting with Edgar this week and new braces are on the way. Probably about in 2 weeks we should have them. I let her pick the color this time which scared me. Some of them are SO ugly as if she doesn't get enough attention drawn to her by just wearing them! I have picked the lightest color for the past 3 pair..light pink. Well, she chose blue. Blue is her favorite color. It is not just a light blue thought..it is a little bit tie dyed kinda..not too bad. They could be worse. At one point she pointed to some blue ones with dancing bears on them..I vetoed that IMMEDIATELY! Sorry Avery! I want you to have a choice..just not that one! Can't wait to get the new ones. I'm sure they will be more comfortable for her as she is growing like a weed...a bad one on some days ;) She all of a sudden has pinchers! ...and they hurt!

Edgar and Avery 8/2012

she is ALWAYS so good with Edgar. She is even smiling!

Infusion 33, 8-16-12

Another great one for Miss A! She is staring to get a little restless right before we start the IV, when I'm holding her and Chelsea is getting ready to go. We used to let her play with my phone and watch a video or something and now she wants nothing to do with it. Thankfully Chelsea rocks at getting it on the first try! Today's IV came out a little and Chelsea managed to get it back in without poking her again..close one! Avery ate like a champ like always during infusion. Before noon she had a donut, milk, water, chips, 2 pieces of pb toast and a banana and still wanted pizza! HAHA! That's my girl! We waited on the pizza til after a short 1 hr nap! Again, the worst part was getting the tape off...she just screams and big tears fall down her face..it crushes me. :(  The infusion seems to go by so fast..like we are forgetting to do something? or..I don't know?..it is over before we know it. We were just so used to the hospital setting and waiting FOREVER..and that is no longer! :) We started to work out a fall schedule but it is a little complicated because Avery will be in school on Thursdays. We want to switch back to our normal Friday but we can only do that every other time because we have to FedEx blood overnight and they don't do weekends. So summed up..we will have to do something besides a Friday every other time at least until this trial is over! I'm not complaining..trust me! This home infusion stuff is amazing. Although we miss our friends at Children's Hospital! http://www.childrensdmc.org/

what a difference

A visit with Dr. Dabrowski this week made Momma really happy! The second he walked in the room he said.."what a difference." He noticed that the usual open mouth in Avery and most Pompe patients, has improved dramatically. And when he lifted her under the arms he noticed more resistance than usual. She had less sway in her back(her belly is not sticking out as much to balance herself) and her legs are closer together when she walks. She used to walk like a linebacker! She also has less sway in her shoulders. He just really couldn't believe her improvement. HAPPINESS! He also noticed how tall she has grown in the past 6 month(approx) her current AFOs(braces) are way too short now. He wants to get her in a new set of AFOs as soon as possible. He made the choice to keep her in taller braces instead of going to shorter ones. One of the things he did was check her foot reflexes. He tickled her foot and where most toddlers would curl their toes into an upright position Avery dodged the tickle, moving her foot to the side and around and tried to get the foot away from him. He said that many doctors would put her right into some shorter SMOs(braces) but he thinks taller ones are best for her and any "damage" that would be caused by keeping her in tall braces would be easier to correct than damage made from putting her in shorter braces(damage to her body, legs, hips, walk etc)that makes sense to me. She has plenty of time to be in shorter braces. He wants to keep her in therapy..as much as possible and keep her swimming as much as possible. He said that we are doing an amazing job!! It is so nice to hear from an outside source. We work really hard to keep her on her toes so to speak. We will do anything and everything to get/keep her strong. If we give up..so will she..and THAT IS NOT AN OPTION! Avery will be getting casted for her new braces on Tuesday and hopefully have them in two weeks. Edgar(Wright and Filippis) added some extensions to her current braces so her toes don't hang over...that should get us through the next couple of weeks. Then it is off to shoe shop for something that will fit over the braces. THE WORST PART! Good fitting shoes seems just about impossible and are a little on the pricey side...but..whatcha gonna do!?!?! Our next appt. with Dabrowski will be in December.

Infusion 32, 8/2/12

Today was a good day. It has been going by so fast. Avery had a few tears with the poke but was over it in a second. She took about an hour nap in her crib which made a HUGE difference! She was a little grumpy! We did our usual snack eating and movie watching. I said that next time I want to plan some projects/events to keep us busy. We were kinda bored! Chelsea and I were about to fall asleep!

Infusion 31, 7-19-12

Avery chillin!

Avery did amazing like always! She had a few tears with the poke but it was fine once the IV was in. We played, watched movies and ate lots of snacks of course! Mya got to be here for the second half of the infusion. It was Mya's first time seeing Avery at an infusion or anything having to do with Pompe for that matter. Wade and I thought we would wait til the time was right to introduce her to the visual part of it. We are not, or never will be sure if it was the right time but I think Mya did ok. Mya asked lots of questions about the actual IV and why Avery needed the meds and what they do for Avery. Why was Avery wearing a backpack and what was in it..etc. I did my best to answer honestly at a level she could understand. When the time came for the infusion to be over Chelsea had to take out the IV, so I have to hold Avery "down" and keep her still while she does that. This is where it would have been great to have Wade here to hold Mya and explain what was happening. For Avery the worst part of the whole infusion is usually taking the tape off that is wrapped around her arm. Completely understandable! So Avery was screaming/crying while Chelsea was doing that and I was holding her. :( But I looked at Mya and saw her bottom lip start to quiver and I knew at that moment...we rushed it! I couldn't go to Mya and hold her and tell her everything was gonna be ok. That was like putting a whole in my heart. I had to keep Avery still. I said to Mya, "Avery is ok, it just hurts when we take the tape off." Mya took off running and was wiping away tears as she hid behind the chair. WOW it is difficult to explain to a 4 year old. We have been telling Mya as much as "needed" along the way. Mya knows that Avery is different from her and other kids and that she gets an infusion and that she gets to go to G and G Nagelkirk's during the infusion. Wade , myself and Suj our genetics counselor have agreed to do what we think is best and fill Mya in as time goes on. As we get more adjusted, Avery gets more adjusted and as Mya matures and can understand. So for now we tell her what her little mind can understand. When the time comes and Mya asks more questions we will answer as openly and honestly as we can. We will never lie to her or Avery about anything that is/will happen with this horrible disease. I think lying to them..would in turn be lying to ourselves. THIS IS A REALITY and we will face it as it comes! Mya didn't want to talk about it and why she cried, and won't speak of it to Wade or Mommy. I hope as time goes on and she is around for more infusions she can understand the positives of doing the infusion. Until then we will do our best for Mya to not be around when the IV comes in and goes out. And who knows....that could change at the next infusion.

Chelsea playing with the girls on her phone

Playing in the water after infusion during the 2 hour wait afterwards

It gets me through the day!

Some of the things that make the days a little easier!

kisses

cupcake faces

painted pigs

hugs

livin life!

Avery as proud as a peacock sitting with all her friends

Too big for her britches..standing on one leg while trying to get in the hot tub....now that takes muscle!

All the way to the top....several times! So determined!

Infusion 30, 7-5-12

Our 2nd home infusion and it went great. We had a little problem at the beginning because Chelsea forgot her stethoscope to check Avery's blood pressure and Wades cuff was too big. So I asked our neighbor Brandy across the street(she is and ER nurse at McLaren in Flint)and she didn't have one either BUT she had a smaller battery operated cuff we used on Avery's leg. It worked out and we got started at 10:35a and were done with the Lumizyme by 2:35. It went really fast today it seemed like. Avery watched tv and ate everything in site like always! She also played nurse with Chelsea...taking her temp and blood pressure etc. That kept her occupied for hours :) Poor Chelsea was probably about to go crazy listening to Barney and Elmo and playing Dr all day..haha! She said she didn't care! Who would I be to argue! All in all another great infusion and another day towards keeping our little beauty, Avery MOVING! This drug is amazing!

Our FIRST home infusion, Infusion 29, 6/26/12

Her IV is in her right arm and the meds are in the backpack

This was the biggest smile I could get.

I knew that ELMO backpack would come in handy!

Just chillin!

We had our first home infusion on the 26th and it went great! Lyn is the owner of Ambulatory Infusion Care http://ambulatoryinfusioncare.com/ She is so nice. She came to this infusion to train our nurse Chelsea. Chelsea is so great. We had no idea what to expect and we lucked out! She is 24 and works in Saginaw at Covenant in the ER. It was also her first time doing a home visit. They were here about an hour going through paper work and "rules and regulations" before the actual infusion started. Wade was home for this one too so he held Avery for the IV start. Chelsea did it and got it on the first try! I warned her that Avery was a bleeder and boy this time was no exception. Wade had a hand full of blood and also a huge spot on his shorts. Chelsea just didn't have anything in place to absorb any of that blood.  She felt so bad. Our reaction....WHO CARES!! you got the IV on the first try! I was able to distract Avery with my phone and she didn't shed a single tear! The time during the infusion was pretty much the same as it was at Children's. Keep Avery entertained with whatever it takes. We watched TV the whole time..and Avery ate basically the whole time too. She is able to walk around more freely than at the hospital. We put the meds in a backpack so she can play and walk around and just bring it with her. This is gonna take some getting used to for her. I'm sure in no time she will grasp the fact that she can actually move around and play and do pretty much whatever she wants. Chelsea has to do her vitals every 30 min just like in the hospital... Blood pressure, temp, and oxygen. It took just over 4 hours for the medicine to finish then a quick saline flush and she was done. Chelsea had to stick around for 2 hours after the infusion to make sure there were no reactions. This is how it will be for the whole clinical trial for Lumizyme.
All in all, it was a relief to not have to drive to Detroit, that saved us 2 hours right off the bat. My feelings were still the same..a little anxiety, nervousness and a sick feeling until we got the drug going. I'm not sure if this feeling will ever go away. She will always be our little baby having to go through this and face this horrible disease and I am not ok with that. I'm hoping they fade a little because she is so brave and amazing and it really doesn't seem to even bother her. Our next infusion will be the 5th of July..this gets us back to our normal week and schedule.

Just over a year ago..........

A year has gone by....wow! It has been a crazy year.  In this past year we have been through more than we could ever imagine. I believe we have been able to get through this difficult year because of each other, our amazing families, wonderful friends and Avery of course.  She just amazes us daily! In the last year Avery has changed 100%. Just over a year ago Avery didn't crawl, walk, talk, or barely move and her heart was enlarged. She could roll and then slowly learned to scoot on her butt.  Now her heart is no longer enlarged and she can do all of the above and then some!  In the past year we've been to Children's Hospital and numerous other doctors offices probably over 40 times. And to therapy over 100 times. Avery now has 2 physical therapists, Mary and Becky, 2 occupational therapists, Brian and Pat and 2 speech therapists, Alisha and Suzanne one each at Kids in Motion and one at Holly Schools. Also a physical therapist who is now in medical school..Shawn. Dr. Jiang http://www.childrensdmc.org/HuiyuanJiang  is the Dr. who diagnosed Avery. She has a Genetics doctor, Dr. Stockton, http://www.childrensdmc.org/davidwstockton a genetics Nurse, Linda and a genetics counselor, Suj. Avery also has a physiatrist, Dr. Dabrowski http://www.childrensdmc.org/?id=815&sid=1 , a cardiologist, Dr. Mahadin http://www.childrensdmc.org/DeemahMahadin, an ophthalmologist, Dr. Roarty  http://www.childrenseyecaremich.com/dr_roarty.php, a pulmonologist, Dr. Abdulhamid http://www.childrensdmc.org/?id=1540&sid=1, and an ENT doctor, Dr. Haupert http://www.childrensdmc.org/?id=1354&sid=1.  Avery also has a child psychologist, Dr. Chase. The Research coordinator Debbie has been putting in countless hours for Avery to switch from Myozyme to Lumizyme for this clinical trial. Avery's Infusion nurses are the best, Karen was the first we met, Tenae and Jessica along with several others throughout the year. We've made countless phone calls to our insurance company and Children's Health Services. We have a Genzyme rep Stephanie, we call her with any drug questions we have. This has been a crazy year and I can't even imagine what the years to come will bring! I'm sure I will be adding more to the amazing list of people soon!

Infusion 28, 6-6-12

This infusion was on a Wednesday instead of Friday because there were no pharmacists to mix the drug on Friday. They all have to be approved by Genzyme. No biggie for us! 2 pokes but Avery did great! We will hopefully get switched to home infusions by the next infusion. Lets hope everything works out and that happens!

"What I Am"

This is the first video we watched before our first infusion...and we continue to watch it before every infusion!

http://youtu.be/iy7J2nHX2I4

it's been a year? Already!

Wow..it is so hard to believe that we started infusions on May 26, 2011! It has been a year! Avery has improved so much in that time! She now walks, talks, runs a little and is just like most normal 2 year olds! This drug, Myozyme and now Lumizyme has saved her life! Her heart is no longer enlarged and she talks back and has attitude like her big sister Mya! We couldn't be happier! There were times in the past year that we had no clue where we would be or what we would be doing or how she would be doing...and look now! AMAZING! A MIRACLE for sure!

Just a swingin!

Avery on the big girl swing! (video)

Avery wanted to swing "all by myself" we were a little nervous because she is still a little floppy! Wade seemed really nervous...and then Mya wanted to help...yikes! It all worked out :)

Happy Girl!

Tippy Toes

Unbelievable!: Avery walked several steps on her tip toes! How exciting! She just did it the other day and Wade and I both said...look she is walking on her toes! I'm glad we both got to see it! That means...she is getting stronger than ever! Amazing! Love my little monkey!

Infusion 27 5-25-12

Yet another Lumizyme infusion under our belts and Avery is doing great! We did a lot of walking this time and Avery was really good. She had pizza for lunch from Subway and had green(sour cream and onion) chips for a snack along with strawberries, raspberries and yogurt! Yup all that before 1pm! HAHA! 1 more infusion then we might get switched to home infusions..which would be LIFE CHANGING for us! Fingers crossed that Genzyme gets the ball rolling ASAP!

Infusion 26 5-11-12

2nd Lumizyme infusion and it went great! Same as always! Avery was really good! Just patiently waiting for home infusions! At least 2 more Lumizyme infusions (and that will put us past our year at the hospital for infusions) before we can even consider home infusions!

I think that Avery looks so big in this picture! Don't mind the "mom are you done yet" face!!

Last year at this time..Avery was a blob basically. She didn't crawl, walk, talk, and barely moved. I chose this picture from this Easter, 2012 becasue you can see the muscle definition in her legs. She is getting so strong!

Infusion 25, 4/27/12, First Lumizyme infusion

NOT what we were expecting. We thought it would get off to a slow start and just be an out of the ordinary long day. NOPE..not at all. We had the new meds going by 10a and were done by before 2 and home by 4ish.! Wade went with me this time and it was REALLY nice for him to go again. We had a really calm day, one poke, barely any tears and a really good girl. I continue to be a proud momma every single time she is so brave!
BIG thanks to Aunt Sarah who stayed with Mya and it sounds like they had a good day too. Caught a movie(Chimpanzee), a McDonalds trip and a trip to KMart..where she talked Sarah into gifts because Avery was so brave ;) SUCH sweet little girls! I am A VERY LUCKY MOM!

Clinical trial: Lumizyme

Avery is no longer going to be on Myozyme and will be switching to Lumizyme. Why? The way WE understand it...there was a manufacturing issue with Myozyme that created a shortage as well as Myozyme is made in smaller batches...so kids are using more Myozyme because they are getting bigger and living longer so it is getting used up faster. The dosage is based on weight so as kids get bigger they use more. Where does Lumizyme come into the picture? Lumizyme is used in Europe in Pompe patients currently. It is basically the same med just manufactured differently in bigger quantities. Genzyme(the company that makes both) is trying to get and FDA indication for Lumizyme in the USA for infantile Pompe. Since Avery in not involved in a study with Myozyme we really had no other choice but to do this trial.

Avery playing Angry Birds while waiting for tests

Getting her EKG and eating a sucker

With Debbie playing Angry Birds and getting ready to get vitals done

To get ready for this trial we had to make several trips to Children's in Detroit to sign consent forms and do baseline testing. One of the first trips we made was to sign consent forms. There were two basic consent forms and one autopsy consent form. The autopsy consent form kinda freaked me out. It was giving consent to perform an autopsy if something did happen to Avery. **Gulp**If that doesn't put things into perspective I don't know what does. At another time we went to Children's for a PT evaluation, an echo cardiogram and and EKG. Avery did so great during all these tests. She held perfectly still for the heart tests and didn't shed a tear...for a 2 year old I think that is pretty great. Next up...the first Lumizyme infusion on 4/27/12. Wade is going with me for this one.

Infusion 23, 3/30/12, Infusion 24, 4/13/12

Behind again, I need to update right away but then I get sidetracked and....here we are like 6 weeks later. So I have a foggy memory. Infusion 23 went good. Grandma Lorraine went with me. She got two pokes because she moved once but it went really pretty smooth. Infusion 24, the first infusion that I went without a helper...and IT WENT GREAT! I wanted to try one on my own for more than one reason: 1. to prove to myself that I could manage on my own and  2.  to practice without Grandma because they were gonna be in TX for several weeks. It would've went even better if we wouldn't have had to get a urine sample for the upcoming case study Avery is going to be involved in. All in all...Avery did AMAZING!

Infusion 22, 3-16-12

Today went great. It started out foggy when we left but cleared up quick. I was worried I would be driving in horrible fog in downtown Detroit! Avery did amazing. Karen got the IV first try and Avery only had one little tear that had to be wiped away.  The minute we mention it is time to get her IV she starts getting anxiety and starts fussing :( Makes me sad but she was a trooper! She played babies with Grandma for quite awhile, ate doritos and goldfish, yogurt, grapes, raspberries and drank juice. We asked her what she wanted for lunch and she said pizza...:) so subway pizza she had! We watched Dora, Elmo, Barney and deleted scenes from Lady and the Tramp(because I didn't check the case before I left and the movie was in the DVD player..at home) I checked all the cases but that one. Live and learn. She was sad but got over it! ha ha! I am proud to be this amazing little girls Mommy! She is stronger than I can/could ever imagine being! She has determination like no one I've ever met! For her there is no option but to be a normal 2 year old. And she will not give up! Just when I say or think she probably can't do that(like walk down from the patio, or walk sideways on a low balance beam at therapy)without my help..she does it and proves me wrong. I have never ever been so happy to be proved wrong in my life! The PT or OT give us things to work on and we do them with her! Then the next time at therapy she makes me proud and does it! For example, walking backwards. She tried last week and couldn't quite get it. So Wade, Mya and I practiced with her this past weekend and Wade had her pulling the wagon outside. So when Miss Becky said lets walk backwards Avery..she did it and did it with a huge grin on her face while she kinda looked over her shoulder at Becky. She knew she could do it..she just needed to practice! I love that kiddo more than words can say.

over a week ago....

It has been over a week now since Miss A got her new orthotics. They are pink, a little higher on her leg and have hinges. When she put them on for the first time she was like a noodle. She was swaying front to back and was just trying to keep her legs steady. She reminded me of those blow up people that businesses use to advertise...the one's where the air blows from below and they dance all over. It didn't take her long to adjust and do great in them. She now has to use so many muscles, weak muscles that she never had to use before. These braces make her walk like a normal 2 year old. She adjusted so fast and I am so proud of her. Within the last week she has become a different kid. She now walks off the patio without hesitation and keeps on going. This is a step that you and I wouldn't even notice probably. It is/was just enough for her to have to step down. She now is speeding up her walking pace and at times tries to run :) So adorable. One day we were walking into school therapy and we passed her occupational therapist and her friend and waved and said hi. Later on during Avery's session Pat(the OT) said that her friend asked her..what are you seeing her for..she looks perfect! HAPPY MOMMY! Of course she is perfect in my eyes but to have a perfect stranger say it makes my heart skip a beat. Avery is one special little girl!

So with new orthotics comes new shoes. PAIN IN THE BUTTTTT!!!!! Big time. The braces are big and bulky and shoes are not made to accommodate them. We spent over an hour the day we got them, at For Feets Sake in Milford trying on shoes. BTW they were great with us! Super patient, helpful and they give us 10% off every time! That will make me go back. It makes the price of the shoes so worth it! And I LOVE supporting local businesses if we can. It made for a really long afternoon. A 2 yr old and a 4 yr old at lunch time and nap time...holy smokes! But we had to have something to get us through. Bottom line is we found a pair of tennis shoes that are perfect! We also found some closed toed sandals that we are getting the Velcro adjusted on so they will fit better. I am in the market for one or two more pairs then she will be set!!  WE ARE SO FORTUNATE: to have Avery, that I can stay home and take care of my girls, that Wade is employed by an amazing company and has great insurance, we have amazing friends and family and the list goes on and on and on! 

P.S. food for thought..kinda,....be thankful that you and/or your kids can go to the store and buy normal shoes at normal prices that look normal. I now know how difficult it can be just to find one pair that will work :)

Infusion 21, 3-2-12

Rough one today. It started out ok this morning. The trip to Children's was fine and everything. The lady that checked us in was a little crazy but no biggie! The first try with the IV didn't take..so to speak. So another try...and it worked without too many tears. But about 3/4 of the way through Avery was saying ouchie so I had Karen(RN) take a look at it. It is rare that Avery complains during her infusions so I kinda thought something was wrong with the IV. Sure enough it was more than half out. ERRRRR! Karen tried to push it back in because we were so close to being finished but it didn't work and Avery was just screaming. So out it had to come. What does that mean for us...another IV must be put in. We have to get every ounce of the close to $15,000 drug plus we need to flush with saline at the end. Avery was not a happy camper. Screaming and crying Karen got it on the first try. Avery was exhausted so she fell asleep. She is just the bravest little girl I know. I looked at Lorraine and said "I am so lucky to have this littler girl in my life" tears of course too! I wish every single day I could take this disease from her.

"EYE" Love you!

So I think Avery officially has a specialist for everything..including her eyes. We met with Dr. John D.  Roarty M.D.at Children's Hospital on Wednesday for an eye check up. Avery was perfect. I was worried because all along they told me it was gonna be a 3 hr appt. YIKES! How would I keep a 2 yr old busy for 3 hours? Food of course! Well it ended up being shorter because she was so cooperative! That's my girl! Avery's eyes look great according to Dr. Roarty. She has 20/25 vision with maybe a tiny bit (very minimal)amt of nearsightedness. He said no glasses or anything now if anything it would be in kindergarten or 1st grade maybe when she needs to see at a distance. All the tissues in/around her eyes look perfectly healthy. He will see us in a year! WOHOOOOOO! How wonderful to get a good report!

Avery's hurt leg

Last week Avery and Mya were "exercising" and Mya wanted Avery to put on her other pair of exercise shoes. So we put them on her and of course they were huge. Anyways she ended up tripping and twisting or spraining her foot/ankle. We let it be that night then in the morning she was still limping so I emailed Dr. Dabrowski. He called me and had me touch in a few spots and Avery had no reaction so he didn't think it was broken. He said we could wait, go to the pediatrician, or come see him. We decided to wait it out for a few days. She didn't seem to be in pain...just limping a little. After the weekend it didn't seem to be getting much better. So again I emailed Dr. D and he said I should bring her in and she needs to get an xray. We got an xray on Tuesday and the doctor there said it was negative(for breaks I assume)We had an appt. with Dr. D on Wednesday. He checked Avery out and he thinks it is just a sprain and with Pompe it will take longer to heal. Avery seems to be doing better. We keep her braces on a little more than normal for the support. It doesn't slow Avery down at all..she is still doing great and trying to keep up with Mya.

a few of the latest videos

Infusion 20, 2-17-12

THE BEST INFUSION EVER! Avery did great! Grandma Lorraine and Mommy went with Avery. She didn't shed a single tear when the put the IV in and they got it on the first try! She wasn't fussy and grumpy like she was last time. I feel like she is starting to understand more. We talked before the infusion about what was gonna happen. We talked about who was gonna be there. She showed me the tops of her hands and said ouchie, Avery cry. I told her everything will be ok... It just hurts for a minute and we have to do it so you can get stronger. I think we will just keep talking about infusion and what to expect.

Infusion 19, 2.7.12(supposed to be on 2.3.12)

Mom and Grandma Lorraine took Avery today. Avery was supposed to be infused Friday the 3rd of February but was sick with RSV. So we had to retest her for RSV on Monday of this week and if it was negative we would do it Tuesday. Well, it was negative so today was the day. It was an average day. Avery was a little grumpier than normal. Avery is starting to fight it more. She doesn't even want Karen to check her arms for good veins. And the last few times at Dr. Haddad's(her pediatrician) it has been this way too. So out of character for her. I hope it is a phase..but also understand if it is not. If I was in her situation I would be GRUMPY too! She would be so much better off if she would just sleep there...but...she won't! She constantly wants to be on the go and it is hard with an IV attached to her arm. Plus, she doesn't understand the concept of staying put and keeping her arm straight so the machine doesn't beep. Anyway...we got through another one! So life is good. We also get to keep on the schedule we are currently on which is a good thing :)

MSU research on Pompe disease to be featured on BTN Jan. 31 | MSU News | Michigan State University

MSU research on Pompe disease to be featured on BTN Jan. 31 | MSU News | Michigan State University

Avery is doing AMAZING!

Avery is just doing Amazing! She is walking everywhere and talking up a storm. Everyone we see is completely impressed with her improvements and we are too! She is getting so much stronger. Her fine motor skills have improved. She dresses babies, colors, cuts with scissors, drinks out of a big girl cup(when her crazy, clean freak mother lets her)she even opened her own presents at Christmas time. She still is falling quite often..but does not hesitate to get right back up and keep going! We found out the hard way that people with Pompe bruise easily and fast. She got her first HUGE goose egg at her daycare Christmas party. It stuck out so far and was just nasty looking. Then she fell over in the sitting position and bumped her head on the wall and INSTANTLY got another huge goose egg. We decided to Google it of course...and it is not uncommon. We just ice it right away to avoid some of the swelling. She puts sentences together that sometimes I still need to translate! We are very proud of her for being so determined. In her mind and ours...there is no other option but to be DETERMINED!

New braces for A

We visited Dr. Dabrowski (Physiatrist) on 1.18.12. He prescribed new braces for Avery. They are similar to the ones she has now but will be hinged around the ankle for better movement. He was AMAZED at her improvement and is expecting her to keep changing! So we will be visiting him again in 3 months..appt set for April. Will keep you posted!

6 month check up

We had a 6 monthish check up with Dr. Stockton on Dec. 20. We just went over her progress, he examined her and we got a to do list a mile long. She needs/ed to see Pulmonology, Ophthalmology,  Psychology for a Bailey developmental assessment and 2 tests that need to be done by her physical therapist when we go back.

We had the pulmonology appt. already and he thinks her lungs sound great :) He did prescribe a cough assist machine for her. This will help her get things up(mucus and phlegm) that people with normal strength do with no problem. We will do it twice a day as a preventative and if she is sick 6-8 times a day. That will be coming as soon as we jump through the several hoops our insurance makes us jump! Ophthalmology is scheduled for Feb. I left a msg with Psychology and need to call them back because I have not heard  back. Will keep you posted on those appts. We go back in 6 months.

They also mentioned:  Avery had DNA analysis to identify the mutations in the gene. Two mutations were identified (as expected given that she has the condition). We know that both of you are carriers. However, we always recommend confirming your carrier status by DNA analysis. Parental testing would look for the mutations identified in Avery. Carrier testing will confirm your carrier status and identify the specific mutation on either side of the family so that other family members could be tested to determine their carrier risks. If you are interested in carrier testing, you should contact your insurance company to see if they cover the CPT codes for the testing. If so, testing can be performed the next time you are here.
We are not sure if we are going to do this at this time.

Taking a break!

Wow..it has been nice having a little break from Kids in Motion Therapy. We are still doing the school therapy one day a week. We plan on going back to KIM in Feb. 2 reasons: we had to wait for our insurance to renew in Jan., and their policy is you have to take a break after a steady 6 months in therapy. I guess that is for insurance reasons on their end? Who knows..who cares...we got a much needed break!

Changes with Genzyme?

http://amdapompe.ehclients.com/downloads/news/Pompe_Community_Update_January_13.pdf

Article about changes that will be coming with Myozyme? I talked to Dr. Stockton about it and he filled me in some. More to come when we find out more. He says the two drugs (Myozyme and Lumizyme)are the same. Lumizyme is not FDA approved in the US at this time.  I guess we will wait and see. He says Avery can't be changed without our consent.

Avery walking

Infusion 15,12.9.11/ Infusion 16, 12.23.11/ Infusion 17, 1.6.12/ Infusion 18 1.20.12

OK...Sorry..it has been awhile! I've been so busy. So here is a brief recap on the last few infusions.

#15 was a nightmare...3pokes. They had a good vein on the first one and she moved when I was holding her. Then Grandma Lorraine held her and the poked her and couldn't get the vein...so they poked around for a few minutes until she was screaming and crying so hard I told them to stop. Avery and Mommy took a little break and went for a walk. When we came back they got it on the 3rd try :( Poor thing! Part of the problem was we made Avery upset before we started by placing a bag to catch urine on her. She was due to have labs done. They needed urine and blood. We survived!

#16 Two days before Christmas so Wade was off work and took her by himself. He said it was a quiet day and they were the only ones there. They got it on the first poke. After infusion Wade took her to get a chest x-ray as part of a routine check up.

#17 Mom and Grandma Lorraine took her this time. It was a good day. She was great. First poke and we were out of there pretty early.

#18 Again, Mom and Grandma Lorraine took her. It went good this time too. Avery was pretty grumpy and refused to sleep like always. We managed and survived :)

I'm behind on posts.

I know I've not updated on the last couple of infusions. I promise..I will update soon. I will also take some video of our little miracle. She is getting stronger every single day. She is walking everywhere! She even tries to run every now and then! AMAZING!