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.