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!
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!
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