Eye and Pulmonary appts. 4-29-15

Time for more check-ups...and why not do two at once to save a trip. First up eyes with Dr. Roarty. He is amazing with her! She is maintaining and has a little near nearsightedness in her right? eye but nothing he is worried about. She will possibly need glasses once school becomes more demanding...but for now all is healthy and well.
Pulmonology checked out great too. They checked her breathing and Dr. Abdulhamid..also amazing..noticed right away that she has slight scoliosis which I thought was so amazing. These doctors are brilliant and are just special people! We are so fortunate! Breathing is fine and no worries there. Both appts scheduled in about a year!

med student checking her eyes

med student checking her eyes

stealing gloves...surprise

what gloves?

123 breathe....

what a trooper

Kindergarten Round up 4-20-15

Here we go...here comes Kindergarten! WHAT and WHEN did this happen?!?!?! She was as big and brave as ever! Wade and I took her and she went with someone to get evaluated and she did great! Smarty pants! She is beyond ready....and Mommy is not :(

cardiology 4-17-15

Avery had her follow up yearly visit with the cardiologist(a new one). EKG and Echo were done and both are NORMAL! Her heart was enlarged with the original diagnosis..with treatment it is back to normal and maintaining! Doc said there is no evidence she even has Pompe by looking at her heart. Speaking of hearts..mine hit the floor when I heard that news! Amazing!  It is always a little nerve racking sitting there wondering and hoping everything is ok.

posing with a perfect heart, attitude and her new stroller!

new wheels 4-13-15

new wheels just arrived! LIFE CHANGER!! It's red, big and beautiful....the Kimba Kruze by Ottobok. This stroller was covered by insurance and took forever to get but it was worth every single second of waiting. It's equipped with things to even secure it in a bus if we needed to and will grow with her for several years. I do want to get a sun shade to go with it but that will come with time! .....and it fits like a glove into the back on the mini

delivery and adjustments

beautiful

getting in on her own

perfect

like a glove!!

Chelsea's baby shower 4-11-15

Avery's first home nurse, Chelsea had her baby shower on Saturday. We were all super excited to see Chelsea and we headed two hours north for the shower! It was a lovely shower and Chelsea looked amaz! We are so lucky to have met such an amazing person! Our current nurse, Cortney was there along with her son Hudson. After the shower we hit up #RL690...the old stomping grounds and ran into my dear friend Marcie. We followed lunch up with bring your own container slurpees:) and then a quick stop at my mom and dads. FUN DAY!

Avery, Chelsea(baby Hazel in her belly)Cortney and Mya

Avery and Hudson

Slurpees

Chillin and G and G Meyer's house

Easter 2015

Easter was a great time like always! We have an Easter egg hunt at Grandma Donna and Grandpa Gene's with Lillian, Keaton, Mya and Avery. THEY LOVE IT! Avery had her casts on this year but that didn't stop her! She gathered so many eggs! It was freezing cold and we all had winter coats on..brrr.

Easter Bunny!

Sissy Mya so excited

Look what I got

Mya, Keaton, Lillian and Avery

Kay Kay finding eggs

this year she could open them on her own!

Genetics check up

4-2-15 Time for a check-up with genetics. We are noticing some overall weakness with Avery. She will need to visit cardiology, pulmonology, and ophthalmology. Dr. Stockton also talked about her antibody levels. Her levels are at 102,000 and this is high for her. She is building antibodies towards the Lumizyme, the only drug avail. for treatment of Pompe disease. This is NOT good. Plan of action...Immunosuppression. This is the one thing we feared all along. Ok, she has pompe but was doing fine with the Myozyme and later Lumizyme so we just never thought it would come to this. Immunosuppression in this situation will consist of several drugs: Rituximab, Velcade, Methotrexate and IVIG. Each drug has a different job. Needless to say we were sick about this and had no idea what we were in for. A couple links to check out or google immunosuppression in pompe patients

 http://quest.mda.org/news/immunosuppression-induces-tolerance-enzyme-treatment-pompe-disease

http://www.cell.com/ajhg/abstract/S0002-9297(07)63878-6?cc=y=

more Botox and more serial casts

4-2-15, More Botox injections needed to try and get more flexibility in her ankles and feet and to try to get her right foot to stop turning in so much. IT WAS BRUTAL THIS TIME! OMG! She screamed and was fighting. It was 8 injections and some hurt worse than others. I was holding her head and hugging her, Wade was holding her middle, the assistant was holding her legs/feet and the doc was injecting. Something I will never forget and I'm sure she won't either:(

4-3-15 First round of casts. There is a hope for about 6 casts depending on correction and speed of correction. Each foot will be measured and casted as needed.

taking her mind of the botox

letting her casts dry for 30 minutes..on grandpa's lap

Mya aka Sissy signing her cast

Cortney signing

Orthopedic Appt.

3-25-15 Orthopedic appointment with Dr. Yassir at Children's Hospital. Dr. Dabroski(Physical Med Dr.) thought after reading the latest xrays that she needed to see Ortho. The person that read the xrays measured Avery's spine curve at 15 degrees. This was a big jump from the previous years. So bottom line we had this appointment and Dr. Yassir measured only 8 degrees, anyway he measured it. We are going to keep monitoring the curve and see Ortho yearly or as otherwise needed.

Infusion 101, 3-23-15, Infusion 102, 4-6-15, Infusion 103, 4-21-15

These 3 infusions have been a little tough. Avery is fighting the poke more and is starting to even fight the premeds. We have managed the headaches and she has been getting nausea the last couple times along with red cheeks and middle of the chest pain(not heart related) We are monitoring this and if it continues we will change things up again. We are giving Tylenol and Benadryl as premeds and still giving Ibuprofen 30 minutes into infusions for headaches.

Time to start thinking ......Kindergarten!

From day 1 we knew our kids would go to Academy..no question. It is a perfect fit for our family. With that being said..Academy isn't set up like a public school and they don't have the funding like public schools either especially when it comes to special needs. Until this year..for some reason..I didn't label Avery as special needs. I didn't label her at all..she was just in the leap program and that said enough. Well..this year she was mainstreamed so to speak. She is in young 5's with "normal kids" with the most amazing teacher in the world. This has made me fall in love with her current school so the decision to send her to another school next year is a difficult one. We met with Academy a few weeks ago to make sure they could meet Avery's needs. It was a lengthy meeting with us talking about her disability and her needs and introducing them to the Pompe world. I think they were all shocked a little with what she needs and what she goes through but none the less....Academy is ready for Avery. They need to do a few things to get ready for her: build a wheelchair ramp, hire a physical therapist and a few other things. I wasn't sure they would take this task on but they are willing to. We are going to Kindergarten at Academy...ALL IN! Wade and I both agree if this isn't the perfect fit for Avery we will reconsider our options for 1st grade. We hope to have the support of everyone around us..including the staff at her current school. Kindergarten round up is April 20, 2015!

Spirit week 2015

Spirit week at school ....and she was totally into it!

crazy sock day

crazy hair day

mismatched day

professional day...what do you want to be when you grow up? Avery wants to be a doctor of course

Mya turns 7

Mya's birthday this year was celebrated at Soaring Eagle Water Park. They loved it. It was a lot of work for Avery and by day 2 she couldn't walk...literally. She was in pain and exhausted. We had to hold her when the big waterfall happened so she wouldn't get knocked over by the water. She was a trooper though and wants to go there for her next birthday.

Children's museum

We thought the Flint Children's Museum would be fun to do while Marlow and Knox were here! Avery loves it too! We had lunch at Sagebrush after

Christmas 2014

Christmas...Christmas..Christmas! So fun but so exhausting for Avery. It a lot of "on the go" activity which makes for a tired kiddo. Last year at Christmas she got sick from exhaustion and again this summer after Michigan's Adventure. We try to do what we can to make the running minimal but it is difficult especially when family is here from out of town. We also have a less than ideal house for entertaining so we really can't have everyone here either.
We are so fortunate to have all the family and friends that we do and that love to celebrate with us! My kids are ridiculously spoiled and I love every second of it! Christmas is still so magical at our house and with our Elf Gus..it makes it even better. This year Wade's sister Anne and her family came to MI for the holidays...we were lucky to have them here! And of course at my mom and dads it is complete chaos and I love it!

Gus with Mickey ears

Gus built a book castle

breakfast with Gus

Avery the red nosed reindeer

Christmas Eve G and G Nagelkirk's

Cookie decorating with Anne, Jason, Marlow and Knox

Gift time

Trying on Marlow's clothes

Santa came

Christmas morning 2014

Rose her doll, she has Pompe

Christmas Day and G and G Meyer's

Gift time and G and G Meyer's

Painting with Marlow and Knox

Anne and Knox

Jason and Marlow

Miss A doing art