We had a 6 monthish check up with Dr. Stockton on Dec. 20. We just went over her progress, he examined her and we got a to do list a mile long. She needs/ed to see Pulmonology, Ophthalmology, Psychology for a Bailey developmental assessment and 2 tests that need to be done by her physical therapist when we go back.
We had the pulmonology appt. already and he thinks her lungs sound great :) He did prescribe a cough assist machine for her. This will help her get things up(mucus and phlegm) that people with normal strength do with no problem. We will do it twice a day as a preventative and if she is sick 6-8 times a day. That will be coming as soon as we jump through the several hoops our insurance makes us jump! Ophthalmology is scheduled for Feb. I left a msg with Psychology and need to call them back because I have not heard back. Will keep you posted on those appts. We go back in 6 months.
They also mentioned: Avery had DNA analysis to identify the mutations in the gene. Two mutations were identified (as expected given that she has the condition). We know that both of you are carriers. However, we always recommend confirming your carrier status by DNA analysis. Parental testing would look for the mutations identified in Avery. Carrier testing will confirm your carrier status and identify the specific mutation on either side of the family so that other family members could be tested to determine their carrier risks. If you are interested in carrier testing, you should contact your insurance company to see if they cover the CPT codes for the testing. If so, testing can be performed the next time you are here.
We are not sure if we are going to do this at this time.
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