Avery Playing Babies

Avery played with this baby, wiping it, changing and feeding it for over 45 minutes.

Week of August 22

A good week for Avery...kinda. This was the first week that we only got to see Shawn once. Miss Avery chooses not to listen to her mommy and doesn't want to use her walker with me. The little stinker will sit right down behind it and say "NO"! Errrr! I'm hoping that Early On- the therapy through Oakland county schools, Holly Schools, will contact me this week. They said they would call me the last week in August to get Avery registered. We won't know til they evaluate her how much therapy she will get through Early On. Both Brian and Alisha said that Avery did good this week. Brian says she continues to do great at the obstacle course, and I think they did some kind of painting because her fingers were blue on Wednesday! Alisha loves her like always! She says that everyday she is getting more comfortable and is saying more and more! Avery is just amazing me EVERYDAY! She is trying more, saying more, and even becoming a little more naughty on a daily basis. Part of the problem....she tries to copy her big sister, and you probably know the attitude a 3 yr old has! Wow! Hoping for a "first try" infusion on Friday ...so she doesn't have to get poked 3 times.

8-19-11

Infusion #7. Today was a rough one. They had a hard time getting an IV started.  The meds were ready to go before Avery was. Jessica tried the first one and it didn't work. Lindsay tried twice and got it on the second try. :(  Avery screamed for an hour while they were trying to get the IV started. I was sick to my stomach. Needless to say, once the IV was started Avery fell asleep for about hour and a half or more. That was so nice.  Less time for us to find a way to entertain her. Avery is still complaining "Ouchie" ...so sad. We talked to Dr. Stockton and he thinks it is about time to put a port in.  We knew the time was gonna come...that doesn't mean we are exactly excited about it.  She has to be put under for that procedure. While they do the port she will get tubes in her ears and adenoids removed if needed. Dr. Stockton pointed us in the direction of an ENT at Children's.  I will contact them next week and make an appointment. In the meantime the doctors will try to coordinate to do everything at once. Our goal is to get the tubes in her ears before winter...cold and flu season. That means the port will be in before winter too.  All the nurses tell us how great a port is. Yeah, great for them to push drugs...but it is not their child getting it put in. It will be fine and be less painful for Avery in the long run. 

8-11-11 through 8-18-11

Last Thursday, 8-11, Avery got her new orthotics. They are pink and match her shoes great! :)They come up to just a little below the knee. She liked them right away. They helped her stand better on the first try! Edgar, who fit her with the orthotics was not happy at the size of the orthotics.  He felt they were cut to short in the toe area with no/little room for her to grow. They were also two different sizes when held side by side. He is having a new pair made for her...until then these will do. On Tuesday, 8-16, Shawn was walking with Avery, holding Avery's hands, and she said Avery was walking so much better.  She told me it was the best she ever walked at therapy...must be the magic orthotics! I was so happy! Thursday, 8-18-11, was a great day! We found out Wade got to keep his job..yes they were doing more cuts! What a relief...so stressful thinking of what would happen without his job and insurance. Done worrying about that.  Also, Miss Avery Kay walked all by herself with a walker..no assistance! Shawn said she told Avery to go find her walker.  Avery scooted over to the walker, pulled herself up, and started walking. AMAZING!  Seriously, not a dry eye in the place!  The person in the video working with Avery is Shawn. 

8-5-11

Infusion day #6.  Well, we survived. It was a long day. Grandma Lorraine went with us today, thanks! I feel like the day got off to a slow start.  I have no idea what the hold up is?? Linda, Avery's main nurse(Dr.Stockton's nurse) Says she orders the drugs before she comes over to examine Avery? Oh well, not much we can do about it.  The IV was put... in Avery's arm this time....normally fine but this time she was complaining "ouchies" but I just figured it was sore becasue...she has an IV in her arm. Shoulda listened to her because a couple hours into the infusion I noticed her arm was swelling..big time, right where the IV was.  It looked to me to be a little smaller than one half of a baseball? Maybe it just seemed that big to me. The nurse said the IV went Subq(subcutaneous)Meaning under the skn. So it came out of the vein...ouch. So fluid was going under the skin for who knows how long?! Poor baby. So they removed the IV right away.  The next question...should we put another one in? The machine said she had 40% left to go..but the bag didn't look like it had 40% in it.  They called Linda and she said we needed to do a new IV :(  becuse she wanted to get ALL the meds in Avery, including the meds in her IV line. I really don't think the nurses wanted to. They said it was up to me...I didn't have to poke her if I didn't want to. UGH! tough decision because it is bad enough to poke her once ...let alone twice adding more time to an already long day. And Avery was Grumpy and tired! But we did it....I wanted her to get every drop of "Muscle Juice" possible. And I also figured since these infusions cost upwards of 15 thousand dollars each time(so we've been told) I didn't want to waste a drop! She was fine..kinda. She cried so hard when they put the new IV in her hand.  I was sick to my stomach knowing I made the right choice to poke her again but holding her down while they did it. It didn't take long after the new IV. The infusion nurses figured there was about 25% of the meds left.  So I'm glad we made the choice to put in the new IV. Not to long after the new IV she fell asleep on Grandma's lap (only the second time she has ever slept there)It was a much needed nap.  Just when I think I have a grip( or am starting to get one) on this whole thing...I have to watch her go through getting two IVs. Here's to a great 7th infusion in a couple of weeks!

8-4-11

This week at therapy....She did great, of course!  After all weekend of saying..you're gonna walk for Shawn next week, right?  She cooperated with Shawn and did her walking. Brian also commented on how much she loves doing the obstacle course and does it for about a half hour out of an hour! Alisha just loves her more and more each week.  She says ...Avery is doing great.  Of course, Alisha gives Avery goldfish, so Avery will do anything for food!
Thursday was Avery's appt. with the physiatrist. Me, Avery and Shawn(her Physical Therapist)went. Dr. Dabrowski was awesome. He was super impressed with Avery. He expected her to be worse than she was/is. He thought she would be more wobbly than she was. He asked me if she could walk and I said no.  But did she prove me wrong...she walked with me in front of her holding her hands! AWESOME! It was real steps..not the usual stiff leg/knee steps. He also checked for reflexes and she had them!  HUGE DEAL.  Several doctors have spent several minutes trying to find a reflex in her legs and arms...and could never get a good one.  Dr. Dabrowski got a reflex in both legs and her right arm..and a slight one in her left arm.  What does this mean????.....THE ENZYME IS WORKING!  Let me say it again...the enzyme is working!  This Thursday was to date since we got the Pompe news, the best day of my life!!! More to come.......

7-28-11

Gonna sum up the week with one document..because I have been lazy and tired all week.  Brian(OT) said she does amazing at the obstacle course. She loves it. Avery however does not like his student he has working with him. She cries everytime she comes to get Avery. Last time she clung onto Brian...(who up until about a month or two ago she cried wh...en he picked her up)when Brian tried to hand her off to her..  Avery is NOT good with strangers at all. The only thing I can think is that she meets so many different people on a daily basis that she doesn't know who to trust. Avery has been great for Alisha(ST) all week. Alisha just eats her up! Avery said night night Alisha in our night time ritual of saying goodnight to the whole world. So cute! Avery really likes her..maybe becasue she gives Avery Goldfish crackers...who knows, who cares....she is talking.  Alisha reviewed her hearing test and records that the ENT doctor has made on Avery since birth and the minute she read Avery was to have her adenoids removed and tubes put in her ears...she said by the sound of her voice...she would agree. Alisha was anxious to get the records from the ENT for awhile now. I let Alisha know that those things are on hold at this point.  We need to get her heart condition under control before we put her under for anything. This minor surgery turns into something major when it involves Pompe. We originally were gonna do the ears and stuff when Avery got a port put in..but Dr. Stockton would like to wait on that as long as possible. Bottom line, we don't want to risk her life if we don't need to...I would rather have a child with speech and hearing problems than no child at all. SO we will mention ears and adenoids to Dr. Stockton next Friday and see what his current thoughts are on this.
As for PT...Avery has been a stinker lately. Shawn said she will crawl til the cows come home..but will not walk. She came home today without a sticker...I assume it is becasue she refused to walk over to get one. They said she will take one or two step and be done.  UGH! Shawn said this is normal and that she  has a few other tricks up her sleeve to get Avery moving....I will trust her on that! Shawn also reminded me that she will meet us at Avery's physiatrist appt. next Thurs.  I asked her why she wanted to go(in a nice way ;))...and she said becasue I have questions for im regarding Avery and I want to meet him.  How many physical therapists do you know that would do this....yeah me too..none! I love her her! I am so thankful to have Kids in Motion in our lives.
 I also want to give a special thanks to G and G Nagelkirk.  They are WAY over the top..especially since we got the Pompe news on Avery.  They pick up Mya EVERYDAY so she won't have to sit there with me while I wait for Avery. And on days when we get to their house and it is lunch time, Grandma has lunch ready! They bend over backwards for us on a daily basis...and we appreciate it so much. We are so lucky to have them in our lives.  Even the KIM staff say how nice it is and how lucky we are.....don't worry...we know!

7-22-11

Infusion #5...and no they are not getting easier for Mom...but I think Avery is getting more relaxed about it. We got there at our normal time..8a and were registered and upstairs to the infusion room by 815....only to wait about 2 hrs for the meds to arrive!  AHHHHHH. The thing is..we have to be there and Avery has to be weighed(to know how much m...yozyme to give her..it goes by weight) in order for them to order the drug. And for whatever reason it took the nurses forever to get the show on the road.  At any rate we were outta there by 2ish and home by 3. Wade and I caught a quick nap while Miss Avery Kay snoozed for about 3 hrs.
The infusion went ok. There was a new nurse that neither Wade or I were over impressed with....and when someone kinda rubs you the wrong way from the word go....well you know the rest! She did Avery's IV and didn't get it the first time. UGH! Avery was so great for the first one...only one big tear rolled down her cheek.  She holds it in like such a big girl. So it could just be coincidence that the first one didn't work or operator error. I think if one of the regulars would have done it..it woulda worked! So second try..she got it, but not without tears and lots of crying. So Wade held her while I watched and held in my tears :( The rest of the day went fine. We just try to keep her entertained and fed :) Really looking forward to when we can do the infusions at home!  That would be beyond AWESOME! Avery is doing great with LOTS of pulling herself up and crawling.  I can't even believe the progress she is making.  And it even makes me more happy when her big sis Mya is cheering her on.  Mya says..Mom, we are so proud of Avery..right mom! I love them to pieces. 

7-21-11

OT with Brian. Speech with Alisha. Brain said she is doing amazing. She just keeps doing more and more with less help.  He also said that several therapist have commented on Averys progress.  They can't believe how far she has come since day one! That is exciting.
Alisha LOVES Avery so much! She tells me that everytime. She is doing great recogniz...ing and pointing out things. And putting 2 words together. Avery and Alisha colored some pictures together and they traced their hands. Avery was so proud to show me thie pictures!

7-19-11

PT with Shawn today.  Did I mention that Shawn got recognized in one of Detroit's Magazines as the areas best Physical Therapist(or something along the line of that) WOW! That is great to walk in to Kids in Motion and see that certificate!  How lucky are we to have her working with Avery!!
Avery didn't have a great day today. Shawn said she wouldn...'t cooperate very much at all.  People ALWAYS say that red heads have tempers...THEY ARE RIGHT! She has a little attitude..and she is NOT going to do something she doesn't want to do! So Shawn told her to walk over to get a sticker(with assistance of course) and she refused!  What a STINKER! So she got no sticker! You should've heard her bitch me out the whole way to Grandma and Grandpa's house!  HOLY SMOKES!  I just told her you have to do what Shawn, Alisha and Brian ask you to do. For so long I think..actually I know we treated her like a baby and thought she had no idea what was going on......WRONG! She is a normal 22 month old!  Just because she is not quite as active...she still knows!  My Mom has been saying that for months!  If she wasn't so stinkin adorable..it would be so much easier to discipline her :)

7-18-11

OT with Brian today and ST with Alisha.  I didn't get to talk to Brian today. But, Avery had a great day at speech today. Alisha says she is talking up a storm!  Makes Mommy happy! She is repeating everything! Alisha is trying to get her to put 2 words together...all the time. She does now if she is repeating you. For the most pary Avery is doing g...reat but Alisha wondered about her hearing.  She said that she hasn't got to hear Avery talk long enough to know for sure....I let her know that Avery has had fluid in her ears since birth and was supposed to get tubes in her ears. I am also having a copy of her last hearing test sent over to Alisha. We didn't do the tubes when we found out she had Pompe. We want to wait as long as possible becasue of the risks involved. Tubes could be something we do if and when Avery gets a port put in.  Avery just seems to be getting so strong. She can go from a sitting to a holding on standing position and a downward facing dog :) position! Thats my little yogi! She can pull herself up to things. Sometimes I will catch her standing next to her little chair barely hanging on! YES!!!!  Tonight she got into Mya's bed ALL by herself!  She is ready for a sleepover with her sister.  If I thought they would get a wink of sleep I might go for it...but I don't see it happening anytime in the near future! Even though the day to day life, and hurdles that we now jump on a daily basis sometimes TRY to get the best of me...I LOVE my girls with every ounce of my being!  I have NO DOUBT that is why I am on this earth!
Trying to gear up for ERT #5 this Friday. Grandma Rain will be coming with me again :)

7-12-11

Today Mommy was in another world....and we got to therapy about 25 mins. late.  But Shawn worked with her anyway! Avery is just a little talker now!  I guess Mya going is all it took!  We are off tomorrow...and I'm looking forward to it!  Sometimes we all need a break...I've learned that the hard way over the last 3 yrs!  Mya enjoyed staying with Mom and waiting for Avery.  She thinks we need to walk to the gas station every time and get a snack...I just give in :)...JK I love getting snacks!

7-11-11

Happy 7-11..no slurpees for us today. Just therapy! We had OT and ST today!  Brain said she did great as usual :) Avery did the obstacle course for about 20 minutes.  GO Avery!  she has SOOOOO much more energy and strenght now!  As for ST....SHE HAS SPOKEN..to Alisha that is! Finally, taking Mya in with her helped. Mya was SO proud to be a helper,.......and a great one at that!  Alisha came carrying Avery through the door like normal and Avery was talking up a storm! She was quacking like a duck! Adorable. She went from being mute there to jabber jaws! Alisha said that Mya kinda just played and did her own thing..but it must have been the comfort of her being there for Avery. Alisha said she was repeating animal sounds, singing songs, and grabbing at her pant legs saying..up..up! FINALLY!  I am so happy and so is Alisha.  She couldn't even tell me how proud of Avery she is/was.  Here's to Avery being a jabber jaws! Cheers!

7-8-11

First off I would like to wish miss Avery Kay a Happy 21st month Birthday!  She is gonna be a big 2 yr. old before we know it!
Infusion day #4.  It went great!  We had a nice sunny day....for a change.  Lorraine went with me and Avery today.  Wade worked and stopped in for a few minutes. Again, Avery was such a big girl.  No tears!  Wow I love her... so much.  The worst parts for her is the rubberband thing at the beginning to find a good spot for the IV and removing the tape at the end of the day.  She gets close to crying..but holds back.  I am proud of myself today for holding Avery while she got the IV and not crying myself..usually Wade does the holding. The day went SUPER fast.  We got started right away and were home by 3pm!  Perfect, I hope every single infusion goes as smooth as today..for the rest of her life! A special thanks to Lorraine for going with us today.  It was great to have someone to help and share what can usually be a really loooonnnnnnnngggg day.

7-7-11

Avery got fitted today for her orthotics :)  I don't mean this in a bad way but they are gonna be so cute on her.  They made a cast like thing to measure to be able to make the real thing. Avery was so big ..switching legs when he asked and letting a complete stranger do all the measurements. They will be done in 2-3 weeks. We will have to get a ne...w pair of shoes...something in a bigger size and a wide width to accommodate the orthotic. Avery will only wear these when standing or practicing standing becasue they will stop her from crawling and that is NOT the goal...we want her to crawl then walk. She does so some crawling but we would love her to do more!  Infusion day tomorrow :(

7-6-11

OT with Brian today and ST with Alisha.  Brian was impressed with all of Avery's improvement.  He didn't see her for two weeks...and she has changed a ton.  When he asked what was new with Avery...I had a list to tell him :) Happy and excited mommy!  Brian said she did the obstacle course with no problem and barely any help...she only needed help g...etting up the stairs..which surprised me. Alisha was happy to report that she finally got some sounds out of Avery.  YES!!!  I hope Avery is finally opening up to her.  Alisha wants me to bring Mya in on Monday to see if that will help with Avery talking. Look forward to that...and so is Mya! She can't wait to be a helper...and I know she will be a good one!

7-5-11

PT with Shawn. Avery couldn't wait to get a sticker today...sticker, sticker, while pointing at her shirt.  So cute. Shawn mentioned today that we should look into getting/going to a Physiatrist- someone that specializes in Physical Medicine and Rehab.  That would then be our go to person for anything we need in this therapy journey.  For example.....orthotics or a walker. Good idea..I think. Just one more appt. to go to.  BUT if it will help Avery...we will go.  Shawn gave me a few names, none that are that close to Holly.  Will let you know..she also said it sometimes takes months to get an appointment.

6-30-11

PT with Shawn today..and Miss Avery got to hang out with Daddy too!  I don't know who was more excited, Daddy or Avery.  Wade said he really liked just hanging out with Avery because it is usually Daddy and Mya.  Wade took Avery to PT and then to get a chest X-ray. The X-ray is to look at her heart and lungs today to be able to compare later...to s...ee if there is improvement! This is usually done before the first ERT starts but Dr. Stockton thought that it is/was more important to get started with the enzyme ASAP!  Shawn said that Avery will get fitted next Thursday for her orthotics! 

6-29-11

Brian is still on vacation so Avery got to play with Val today!  She is always so excited to work with Avery!  She said she gave Avery a tangy vinegarette dressing to eat(this will sometimes "wake" them up)She said also anthing sour, tangy or really sweet will work.  She said it didn't really wake her up like she expected but Avery LOVED it and jus... wanted to eat it!  Hello...Avery LOVES  to eat! and especially condiments. She is the complete opposite of Mya who really does not like anything like Ranch or tartar sauce, mustard etc. AVERY LOVES condiments!  Too funny.  Val worked a lot on her core today.  In the swing and on the bouncy ball is where they did the most work today.
After OT with Val she goes to Alisha for ST.  Guess what....still not a word!  Again, she said it is not behavioral.  Alisha was singing songs to Avery and Avery was moving her lips like she was gonna sing but nothing came out!  What a stinker.  Alisha says"I think it is gonna happen next week, she is really close to talking to me" I hope so!  Wade asked.."what do they do for a half hour if she doesn't talk?" Well, they do lots of recognition, and selecting and choosing(Alisha holds up two items and Avery has to choose, identify what she is asking.  The hope is she will say what it is!!  I hope sometime soon.  They all know she can talk and sing because they watched the video of her singing in the tub. Alisha says there is not a theapist there that would not take her home..they all love her so much!  Val said ..she loves her hair(of course) and it is so soft.  My response...glad you touched her hair on a day she didn't have yogurt or syrup......because it would be crunchy on those days :)  Avery also got to bring a sticker home to Mya..and boy was she proud of that!

6-28-11

PT with Shawn today.  Mom forgot Avery's shoes, duh! so she didn't do much standing or walking today.  Good news..our insurance covers 90% of her orthotics. Shawan will probably get her fitted next week!  We just have to get a script for them...I will email Suj tomorrow to do that! Avery is doing so great! 

6-27-11

Brian is still on vacation so Avery just met with Alisha today....and guess what????? she didn't say a word..again :/    Alisha reminds me it is not behavioral and she will talk when she is ready.  I can't keep her quiet at home!

6-23-11

PT with Shawn. I went back half- way through her session to observe and learn some new things to do with Avery. Shawn had her standing in this huge contraption...I think it was called a Walking Danny...not sure on that.  She was all strapped in and standing and playing with toys.  She looked like such a big girl.  We don't get to see her standing t...hat often. She said she wants to get Avery standing as much as possible. She sent home a walker with us to see if Avery would work with it at home. She also would like us to have her crawl over anything possible...make an abstacle course and put her favorite thing on the other side of it so she has to work for it!  We need to get this girl strong! Shawn also mentioned having her "cruise" along the couch...which is standing and stepping sideways while holding onto the couch.  Good ideas and a change of pace for us = good!
P.S. Shawn wants us to get a script for some braces for her ankles and feet to help her get moving! Lets cross our fingers that insurance will cover them....I will be calling Monday!

6-24-11, Infusion #3

Infustion day #3.  I find it odd that every single time we have went to Children's hospital...it is raining! We've learned our lesson and leave in plenty of time!  Although the sick feeling I have the night before and the day of are still haunting me every single time....things are getting into more of a routine. I think that I will have that awful... feeling everytime because she is my baby...and I so bad wish this was me instead of her. She is such a trooper though! It is always a VERY long day for all of us. She never will sleep either :( This time it took forever to get ther meds going..we were there for about 2 hours before they started. So keeping a newly active 20 month old occupied for 7 hours is nearly impossible.  We are running out of ideas! We do movies, stickers, she is on my lap then Wade's then back in the crib.  We bring food, drinks, and plenty of snacks which falls in the food category I guess!..but even she is bored with that. Oh well, we will have to get creative I suppose! Ideas are welcome! She did such a GREAT job getting the IV in...not a single tear!  Amazing.  And the "stuff" that goes along with the IV doesn't even phase her.  It is becoming normal to her.  We talked to Dr. Stockton about her improvement...and how great she is doing and we asked if he thinks it is from the Myozyme.  His reply..."we can't be sure but unfortunatley it is probably not from the drug this early on. But there always is a chance it could be" Since there is not much research because of how new the drug is and every child is different...that is the answer that we have to accept.  We are OK with it...our theory is...it doesn't matter if it is the therapy or the drug making her stronger...the point is...SHE IS GETTING STRONGER! We will continue to do both!  And you are looking at two happy and proud parents! WOW! When I step back and look at her improvement in the last 8 weeks..it amazes me.  She is so determined! and I love it! I again want to thank everyone for your thoughts, and prayers and all the caring comments!  It really helps us to know that we have one of the strongest support systems around!  And there is no doubt we need it at this time! Keep the good thoughts coming our way! 

6-22-11

OT with Valerie today.  I thought maybe there would be some tears because it wasn't Brian...nope!  I love it when she proves me wrong!  She did so great!  Valerie is filling in for Brian while he is on vacation.  Valerie was impressed with Avery.  She commented how she knows everything that is going on around her and she responds to everything she ...is asked. She just doesn't talk to any of the therapists! She had Avery working a lot on her shoulders...reaching above 90 degress and bearing wieght on her arms.  She said she would like to see Avery play with both hand together rather than doing one thing with one hand and when finished with that doing something with the other hand. Hmmm... Maybe Brian will have some ideas on how to work on this at home!  We will see Valerie next week. No ST today..Alisha's Grandma died :(

6-21-11

PT with Shawn.  I mentioned that I feel like Avery isn't challenged enough at home while doing her therapy. I feel like Avery is getting bored. Since she can move so much more now she has no interest in doing therepy.  Shawn said to start by switching rooms where we do it(currently in the living room)So move we will do! She is also going to have me... observe on Thursday to maybe get some new ideas!  I secretly can't wait...so I can see Miss Avery at work!
We also got great news today from Suj-our genetics counselor! message below..
(hi- just wanted to let you know that i received notification that Avery qualifies for CSHCS. it is my understanding that they will send you paperwork to fill out and then determine your fees and coverage.  thanks suj)
CSHCS stands for Children's Special Healthcare Services. http://www.michigan.gov/mdch/0,1607,7-132-2942_4911_35698---,00.html 
This could help with some of the cost of her treatment...if for whatever reason insurance doen't cover it.  Relief!  So far everything is going as planned! :) :) :)  Lets keep it that way!

HUGE  P.S.
Avery took a drink from a straw yesterday....she finally got it!  YES! We were drinking a juice box at Lexi's house!  I was SO excited!

6-20-11

No OT with Brian today...he is on vacation for two weeks.  We will have a sub on Wednesday of this week and next. So ST with Alisha, who adores Averys so much.  Alisha said she still can't get her to say anything..but Avery is responding to everything.  Meaning she can point things out and knows what everything is..just refuses to say it!  She said... specifically that she does not think it is a behavioral issue but more of a comfort thing.  She says this because I tell Alisha she is a jabber jaws at home.  What a little stinker! We just posted a video of Kay Kay climbing the stairs. Yesterday and this morning she climbed the bottom set of 7 and seemed too tired to go up the next set of 7.  But tonight...she did them all!  She is so determined.  These things she is doing makes us realize that so many other things just DO NOT matter! This whole situation has just changed who we are and we couldn't be happier about that!  Keep up the GREAT work Miss Avery!   

6-16-11

PT with Shawn today.  Today after pt  Miss Avery came walking out with assistance and a walker.   Avery immediately let go of the walker to point and show me her Cookie sticker...so stinkin funny!  Everyone laughs at how obsessed she is with stickers. This time the walker was facing the way an elderly person would usually use it. Shawn commented th...at Avery tends to bend more at the hips when it is facing this way.  Shawn is trying to figure out what is best for her. She commented that Averys hips are still pretty weak and we need to work on getting them stronger...which is what we are doing. I think it is just gonna take more time than the other muscles and I have no idea why.
On another kinda gross note..Avery has problems going #2....and it is probably because she doesn't walk/move much, doesn't stand upright and also her muscles have low tone making things move slower in that area.  Shawn's Mom is a massage therapist and gave Shawn some tips to give us.  They worked on her during therapy and Avery started tooting...and sure enough when we got home....well you know the rest.  Anyways, we have to lay her on her left side and massage up one side, over her belly and down the other side.  (don't worry she wrote it down for me)It  seemed to work so that is a relief (literally) she is so miserable quite often because of this problem. 

6-15-11

OT with Brian and ST with Alisha today.  As usual..on Wednesdays I don't get to talk to Brain after therapy because he hands Avery off to Alisha right after his session...to avoid contact with me. It would not be good if she got to see me between. Alisha cleared her Monday schedule for Avery. So Avery will now be doing ST (speech therapy) 2 times/w...k.  :) Her therapy schedule is as follows:
Monday OT with Brian at 11 to 12 then ST with Alisha from 12 to 12:30
Tuesday PT with Shawn 9 to 10
Wednesday OT with Brian 10 to 11 and ST with Alisha from 11 to 11:30
Thursday PT with Shawn 9 to 10
Every other Friday Infusion day...8:30a Detroit Children's Hospital
Tired from just reading that schedule!  WOW!  But when I see the improvement she is making I all of a sudden am not tired anymore!
Alisha brought Avery out today and Avery was pointing at her shirt.  I knew exactly what she wanted...a sticker.  I said Avery ask Alisha for a sticker..and she wouldn't do it.  I said to Alisha she wants a sticker and Alisha shook her head as if ...yes I know she wants a sticker but she is not getting one til she asks for it...and looking at Avery she said "ask me for a sticker."  Avery wouldn't do it. I caught myself speaking for Avery today.  I always do this.  I am working on it.  It is really hard when everyone looks at you after she speaks to know what she said...I am an interpreter! I finally sat Avery down in the chair and got to her level and said Avery if you don't ask for a sticker..you are not gonna get one today.  Kay Kay say ..sticker please....she finally said it under her breath and without eye contact.  What a stinker! Alisha brought out a puppy sticker and a Cookie Monster sticker and asked her to choose.  She chose the puppy(yup I was surprised becasue she LOVES Sesame Street). I asked Alisha if it would be ok to take a sticker to Mya and she said yes of course.  WOW Avery was so excited to give that Cookie sticker to Mya.  I feel like I could feel Avery sharing her experience with Mya through a sticker...weird I know..but!!!it is what it is. Avery also came out of the PT room a sticky mess.  Silly mommy put her in a white shirt..forgetting that Mr. Brian gives her a dum dum as part of her therapy. Needless to say her hair was crunchy and sticky and she had to have a change of clothes!  I said that is fine...I would ruin 100 outfits for the success she is having!

6-14-11

PT with Shawn today.  She said...."she is doing so great!"  The people at Kids in Motion are always SO positive...and I love to hear it!  It is so great to see Avery smile when she comes out of the PT room! She just seems happy to be there now.  That makes it wayyyyy easier to leave her with Shawn, Brian and Alisha.  Miss Shawn hooked Avery up with a Cookie Monster sticker.

6-13-11

OT with Brian today. He said again that she is no longer a sack of potatoes!  He worked a ton on her mouth and tongue today. Her shirt was drenched when I picked her up...I wasn't sure if it was from drool or the sucker she gets everytime?!?   The sucker must be helping because she is showing so much improvement in her mouth area!  Big smiles all the time! I also talked to Alisha about adding another day of speech therapy....she was/is trying to switch someone to fit us in on Mondays.

6-10-11, Infusion #2

Infusion day #2.  Things went a little better today. We didn't run into traffic and were there early.  We decided this day (Fri) and Time(8:30)works really good for us!  We were actually in registration at 8 and were upstairs in the infusion room by 8:15.  Avery hated the IV again..but that is to be expected. She was really fussy and grumpy too...w...hich also is to be expected..I guess.  We were done at 2ish and home by 3! NICE!  Avery fell asleep before we got on 75 and is still sleeping.  We are all really tired...with her being fussy and us getting up at 6 and none of us slept great last night...that is what happens I suppose. We asked about getting a port put in so we didn't have to go through the IV everytime.  We misunderstood last time when they said they would only poke her 6 times...that is 6 times in one day to try to get the IV in.  With Avery, so far they always get it on the first try.  Dr. Stockton would like us to wait as long as possible to do the port....in hopes she gets stronger and her heart too. We all agree that is best. And since she doesn't do too bad getting the IV..considering! We will wait. SO all in all.. An OK day. Few tears from Miss Avery..and none from Mommy!  Daddy is alway the rock for us all! If we could just get rid on the nerves things would be better.  Maybe with time..but I doubt it.  Very PROUD of our big girl for going through all this!  I love her SOOOO much.

6-9-11

Lite Gait

Treadmill

PT with Shawn.  Avery got her sticker today...Cookie Moster!  She was so proud to show me!  Today she walked on the treadmill with assistance and walked in something they call Lite Gait-basically assisted walking. She did great!

6-8-11

OT with Brian then right to ST with Alisha.  I usually just see Alisha on Wed. to get a report on how Avery is doing.  So no news from OT. Alisha was so excited to tell me she just about got some words out of Avery today.  Great considering she thought Avery was mute when she met her!  Avery does do everything Alisha asks her to do...just doesn't t...alk.  She is jabber jaws at home! Alisha said Avery was blowing kisses and hugging her. :)  When Alisha brought her out to me she whispered "I want to take her home with me."  I assume it is because Avery is such a sweetie and a lover and of course ADORABLE! Alisha just really loves her..and Avery is ALWAYS so happy when Alisha brings her out. Today Alisha did not give Avery a sticker :( She was devistated!  And she let me know it...she said Elmo and sticker the whole way to Grammys house. I think Avery was mad cuz I didn't take her back in to get one..or ask for one for her.  I said we will get one tomorrow...and she wasn't having any of that!  I think the sticker is more than just a sticker for her..She is getting so much confidence and is so proud of herself and the sticker is a sign she can show to everyone!  I love her SO much!

6-7-11

PT with Shawn today!  Not much new to share.  Shawn did give us the splints to use again.  She really wants us to work with Avery on standing with and without splints.  SO that is what we will do! Maybe it was Shawn who gave Avery the ELMO sticker..now that I think about it.  Not a big deal to most...but if you listened to her carry on about that sticker....!

6-6-11

OT with Brian today!  He was really excited to tell me she did the obstacle course for 3 crawls on her own...Awesome!  When he brought her out to me when they were finished he said "she's not a sack of potatoes anymore!"  I agreed.  She helps us when holding and lifting her so much more now.  It is nice! Brian also gave Avery and Elmo sticker.  She... has not stopped saying sticker since!  For one...she LOVES.. LOVES.. LOVES Elmo, and shares the same love for stickers! She was very proud of her sticker!

6-2-11

PT with Shawn today!  Avery likes her and pretends she doesn't..I know it!  She is such a little stinker!  Avery didn't cry with her though!  Shawn wants us to work on tall bent knees with her...basically standing on her knees and playing while keeping her butt/hips straight and from rocking around.  She said this is where she needs to get stronger.... We will for sure work on it! We kinda already do...but we will add it to the already "long" list of therapy we do!  No arguments here! :) She also mentioned the shoes were a huge help.  She noticed right away that they helped...good!
I was waiting for Avery...like always in the waiting area. Shawn usually will bring her out to me and hand her to me...today was different. I saw the therapy door open and heard Shawn say.."look who's comin" Out comes Avery walking with minimal assistance from Shawn with the little walker with wheels on it.  I LOST IT!  I get tears in my eyes even writing this.  This moment for me was similar to the moment my children were born..I can't explain it..but I am sure glad I experienced it! AMAZING! Avery looked so adorable..in her big girl shoes and I had her hair in piggies..so cute!  I could not stop crying..I just bent down to Avery's level and gave her the biggest kiss and hug and said..I love you so much! and I am so proud of you!
Avery's reaction:  why is everyone looking at me..and why is my crazy Mommy crying!  She thinks it is no big deal(which is a good thing..I think) Maybe it just felt really normal to her!  I hope it did.

6-1-11

OT with Brian today! I was excited for Avery to wear her new shoes!  She was fine today..no tears!  Brian was so happy to tell me how great she is doing.  He notices more muscle development in her mouth and also said she seems to help more when you pick her up...meaning she is not as "floppy"
Alisha for ST...Miss Alisha got a hug and a blown kiss ...from Avery!  And as most of you know...she is pretty picky about who she gives those to these days!  I am thrilled that Avery likes Alisha!  Alisha also commented that her muscles in her mouth are looking/seeming to be better. (Probably all the chewing she has been doing..not to mention the biting!)So proud of Little Miss Avery Kay! 

5-31-11

I finally have my computer back..so time to catch up!
Tues was PT with Shawn.  Avery started to cry when Shawn took her to the back room for therapy :( she was doing so great not crying..but I think the long weekend made her shy again.
Shawn said she did great.  She had her walking in a walker thing with wheels on it and she said she did great i...n that.  I wanted to see her do it so bad.  Shawn notices Avery is getting stronger and is impressed with her improvement! HAPPY! MOMMY and DADDY! Shawn also suggested that we get some shoes with some support to help her stand. I guess I really didn't think about supportive shoes.  I figured..she doesn't walk so why would she need shoes. 
We got some cute pink big girl shoes and some new sandals too!  Adorable.  We tried them on and she immediately was standing with support  SO much better!  Good thinking Shawn!

Infusion Dates

We will doing Avery's infusions on Friday going forward.  It is better for Wade(work) and Avery- then we also do not need to cut a day out of Avery's therapy.
We will have to be there at 8:30a
June 10
June 24
July 8
July 22 August 5
August 19
September 2
This is as far as we are booked out.....We wil add more dates after we see how this Friday thing works!

5-26-11 Infusion #1, post #2

We're home!  We got home at about 5:30! The end to a vey long day!  Grandpa Dick brought Mya home and we are all just hanging out now!  Avery was a trooper today!  She was really tired though and didn't even make it out of the parking lot before falling asleep!  She was also starving when we got home.  She didn't want to sleep there at all...which ...is understandable...it is loud at times and her IV kept beeping, they also are taking her temp etc. all the time it seems!  It wasn't as bad as Wade and I thought.  It completely SUCKS having her get that IV in...but after that it was fine.  We can do this!
We also met the only other child at the Detroit Childrens Hospital that is getting ERT infusions. His name is Cameron.  He is 15 months old and is really not in good health at all. He is on oxygen and also has a feeding tube. He also has a pic line so the infusions go a little smoother.  He sits up and that is about it.  It makes us feel VERY lucky that Avery is who she is and in the condition she is in...because it could be worse.  Cameron hasn't had a real bath since 4 months old as he has to be sponged bathed because of the pic line.  We are thankful.  Keeping sending positive thoughts!!
 Special thanks to Granpa Dick for keeping Mya overnight and Grandma Joan across the street for letting Charley Boy out!  WE APPRECIATE ALL OF OUR FAMILY AND FRIENDS!

5-26-11 Infusion #1

Infusion Day!  Our first infusion at Children's Hospital in Detroit.  We arrived at 9a. We had to register(we will have to do this every single time)then we were take upstairs to the 4th floor, infusion suite. They got us settled and called the Dr. and Nurse to get the show on the road. They got a urine sample first and then were ready to start the... IV.  Avery was NOT happy when they were looking for the perfect spot to insert the needle.  She screamed and was sobbing(and so was mommy)  I just hated that she had to go through that. :(  They got the IV in and we had to wait a few minutes until the med came from the pharmacy.  The official meds started dripping at 11:15a.  And they/we forgot to give her benadryl and tylenol before, so she got that at 11:15 also.   Sooooo....2 hrs and 15 minutes later..we were on the way!  She is doing great now...singing twinkle twinkle in the crib...talking up a storm and eating. For the 1st hour the have to take her BP, temp and oxygen levels every 15 minutes.  Then after the 1st hour they check them every 30 minutes.  It is gonna take some getting used to.  She also keeps bending her arm right where the IV is..so it beeps everytime and we have to remind her to straighten her arm out.  We are all hanging in there.  The staff and nurses are SUPER NICE and accommadating.  That makes this a little easier.  2:15 she just finished the Myozyme drip and is now doing a saline drip for an hour.....then I don't know what is next.  I think we will all be super duper tired and will sleep great tonight.  If we don't talk tonight...we will talk tomorrow! Thanks for all the positive thoughts and prayers.  Now lets just hope this helps little Miss Avery!

5-25-11

Avery had both OT(w/ Brian) and ST(w/Alisaha) today!  They both said she did great!  Brain said she did the obstacle course 3 times...with no fussing!  That is so great!  He also had her doing the wheel barrow- bearing all her weight in her arms and playing....amazing!  He said she held that position for quite a long time!  He always comes out with... a big smile and is amazed at her improvement! Alisha said that Avery was a different kid(compared to last time)...way better today! They were pointing at body parts and several other things...and she was also really happy!  I think Avery just needed to warm up to her! She can see improvement in her face/mouth muscles!  Oh yeah, when listing the body parts she asked Avery to show her belly....Avery looked at her confused...we call her belly buddha!

5-24-11

Avery had another wonderful day at therapy.  Today was Physical Therapy and Shawn is the usual  person that helps Avery.  Today Shawn had jury duty so Avery got to "play" with Mary, the owner of Kids in Motion!  Mary was impressed.  She said she seems to be hitting all of her goals!  She really, really wants Avery to crawl.  So our goal is to pract...ice..practice...practice!  She also had Avery sitting in a low to the ground chair and with minimal help Avery pulled herself up to standing and leaned on her elbows on a low table.  AWESOME!  I literally was so happy I cried(just a little) :)  Way to go baby girl!
Also, Avery's first ERT infusion will be this Thursday at 9:30 am.  We have to be there at 9.  Suj informed us that the 1st one could take a little longer as there will be lots of questions and some additinal labs that need to be done. 9 am...so maybe we can miss some morning traffic.  We will bring our camping gear...because it sounds like we will be there ALL day.  We will be sure to bring lots of snacks for Avery...who am I kidding..for Mommy too! :)
Not sure on Wade's feelings regarding the 1st ERT.  I am really nervous and super excited for Avery! 

5-23-11

Avery had a GREAT day at therapy today. Brian (the OT) was impressed with her improvement. She did lots of weight bearing on her legs today! She also did the obstacle course twice with no objections.  She usually screams her head off!  He also mentioned that her hands/fingers are getting stronger wit the putty use!  He followed that up with " you c...an always tell when the parents are doing a good job at home, good job."  Wow that makes me feel good!  Looks like all the hard work from Mommy, Daddy, Mya and most of all Avery is paying off! 

Kids In Motion Open House

We had a nice afternoon at the Kids in Motion open house.  Avery was asleep for some of it but woke up in time to enjoy some cake!..That's my girl!  Wade got to meet Shawn, Avery's Physical Therapist and take a tour of the facility.  Mya loved the bounce house and got a frog painted on her arm.  Thankful to Sarah and Mike who joined us for part of ...the afternoon. Mike won a Tuffy GC and so did Sarah :)  Mya won a big stuffed monkey..and the look on her face was priceless!  So glad to have such a wonderful place in our life!  Now a quick nap for the girls..or maybe all of us and then outside to enjoy this BEAUTIFUL day!

5-16-11

I'm writing these notes to keep everyone informed and get my thoughts down on "paper" so to speak.  There will be spelling errors, repeated words and phrases, bad grammer and who knows what else! Just ignore it because it is what it is!  Also, this could say one thing and I could have told you another...if there is difference in stories..don't hesitate to ask!
Monday May  16, 2011...the day our lives changed.  Avery Kay was diagnosed with Pompe Disease.  Pompe disease is a rare inherited neuromuscular disorder that causes progressive muscle weakness in people of all ages.
From research we knew there was no cure and the treatment was done by infusion therapy. That was all we knew. We were about to learn lots more!
There were a lot of tears for us on Monday.  Just thinking about what little Avery would have to go through literally made us sick.
We did a lot of talking that day to the Genetics department at Children's Hospital, our insurance company and some of Avery's other doctors to get the medical records we needed.  They wanted her whole medical history from birth.
Since Avery does have a heart condition and was diagnosed with Pompe..they wanted to see us immediately..our next appointment would be Thursday the 19 of May.  We were dreading and looking forward to this appointment.  We wanted answers to the millions of questions that were on our minds.
This will be a day we will NEVER forget.

5-20-11

Wade spoke with Stephanie from Genzyme (the company that makes the drug that Avery will get for treatment)today. They deal directly with the insurance company.  The good news is that we will only have to meet Avery's deductible and pay a small amount out of pocket.  What a relief!  We have been pretty stressed about this becasue these treatments are SO expensive.  A step in the right direction...Lets keep the good news comin!

5-19-11

The day started really early. Mya had a sleepover with Grandma and Grandpa Nagelkirk so we could get an extra early head start.  We had an appointment at 8:15 in downtown Detroit.  We knew there would be traffic so we left in plenty of time!  Wouldn't you know it...we were late!  It was pouring rain and there was so much traffic.  But we made it by... 8:30 and that was fine.
Our wait in the waiting area was short and included a few minutes of paperwork.
We were then taken to our room where we would spend the next 4+ hours talking to Drs.
We met Avery's doctor, Dr. David Stockton, MD, FACMG Medical Geneticist, Genetic and Metobolic Disorders(how would you like to have that title)and Suj(short forSujatha)our Certified Genetic Counselor.  They were both SO nice and wonderful.
The meeting started out with Dr. asking us what we know/knew about Pompe.  We filled him in on what we read on the internet. He agreed with most and gave a lot more.. in more detail.  The floor was then opened for questions.  Here we go....we had MILLIONS!  We asked anything and everything and got an answer for all of it!
The Dr. also described what the treatment would be and that they wanted to start it right away.  Avery would have to get Enzyme Replacement Therapy.
Enzyme Replacement Therapy (ERT)
Patients with Pompe disease have deficient or absent acid alpha-glucosidase (GAA) activity.  ERT provides an external source of GAA, a lysosomal enzyme.
ERT is given through IV every other week for the rest of her life. This would include a trip to Detroit Children's Hospital and a 5 hour treatment and 2 hours of observation...every single time.
Avery also had to get a skin biopsy done.  They need this sample of skin to test for CRIM..we want a positive CRIM!
Cross-Reactive Immunologic Material (CRIM)
Most patients with Pompe disease produce endogenous GAA protein. The protein is called cross-reactive immunologic material (CRIM) because it is recognized by anti-GAA antibodies on Western blot analysis. The total absence of GAA is described as CRIM negative; the presence of any GAA band is described as CRIM positive. Patients with residual GAA activity >1% are by definition CRIM positive. Patients with GAA activity <1% can be CRIM negative or CRIM positive.
We also got to meet Linda, the pediatric nurse practitioner who along with Dr. Stockton will be giving Avery her treatments. Linda was so nice. Avery LOVED her.  Linda was holding Avery and I held out my arms and said "come to momma" and she wouldn't!  This would make some moms made...not me!  It makes me so happy!  She likes Linda and that is a good thing becuse we will be speding a ton of time with her!  Avery has not been a huge fan of strangers lately because she has been meeting so many! The appointment closed with some blood work for Avery and they tried to get a urine sample but couldn't ...so we will get that during her first infusion.
The next step...wait to find out what date and time we will start the ERT.  It looks like Thursdays will be our day....but that could change. We will most likely start on the 26th of May!
We appreciate all the thoughts, prayers and support.  We do have a long tough road ahead of us...but we can and WILL do it!  Avery is such a little lover and is worth every ounce of energy we have!  Check back often for more!