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