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Wednesday, November 22, 2017

I apologize that I did not get this post out last night. Dean’s dad and his wife arrived from Florida and are staying with us for Thanksgiving. We were enjoying “catching up” and before I knew it it was 10:00pm.

Anyways, here are the happenings of yesterday’s doctor appointments. Brandon’s incredible notes will explain so much more but I will share my “take” on them.

The first appointment was at 8:00am with Dr. Chad (genetics). They confirmed that Pyper does not have Digeorge Syndrome! Chromosome 22 is not missing from her DNA. They took blood from Pyper, Brandon and Nicole, took each of their medical history / background, and will be doing an X Chromosome test which looks for any abnormalities along her Chromosome chain, maybe even at 22, which was the one they suspected could have been missing. This will take 2-3 months to get results back.

They are looking to see if Brandon or Nicole are carriers for a recessive gene and checking Pyper for the possibility of Opitz G/BBB syndrome. While he suspects it could be this, he has doubts as well because the two main factors are wide spaced eyes (which she doesn’t have) and it is much more prevalent in males. She does have other symptoms of this particular syndrome, thus why he suspects it could be it.

Next came the ENT (Dr. Rogers). Nothing new to really report on here. Still no known cause as to why Pyper is still aspirating. Brandon’s notes give a clear picture from this appointment.

The bottom line in all of this is that we have no definitive answers yet. Dr. Rogers said it will eventually all get pieced together. This waiting and unknown is so HARD!!

Up next is a trip to Raleigh/Durham on Sunday afternoon to meet with a doctor from the critical care team at UNC Chapel Hill on Monday morning. They will go over Pyper’s medical records, talk to Nicole and Brandon, make assessments and referrals to specialist that they feel she needs. This group of doctors will make up Pyper’s team of specialists that will all work together for her long term care going forward. They will give 2nd opinions as to what has already been diagnosed as well. We are praying for answers!!

Today I am THANKFUL that even in the uncertainty of Pyper’s health issues I can rest in the CERTAINTY of an Almighty God that knows her future.

Happy Thanksgiving to all!

11/21/17

Doctor notes from Brandon:

Pyper Genetics Dr. Chad Haldeman-Englert 11-21-17

  • Did thorough family history medically/genetic
  • Does not have Digeorge Syndrome… chromosome 22 is not missing… nothing is missing from her DNA… question is does she have a change to an individual gene that was not tested for
  • Could be brand new genetic change for baby….me and Nicole could be carriers of a recessive gene….
  • Become sequencing… Will be the test… take blood from me and Nicole and results come in 2 months
  • Dr Chad thinks midline disorder such as midline gene and possibly could have opitz g-bbb… gene involved would be midline one….possibly j shaped spot where pituitary gland sits mps muco polysacharrideosses… he doubts mps… gene in region for Digeorge could be malformed
  • Doc said as she gets older he suspects we will be dealing with less medical issues such as aspiration and more developmental
  • Un-diagnosed diseases network….Vanderbilt and Duke… it is Grant funded and Medicaid doesn’t matter…. need physician letter and we apply online … Dr. Chad said he would write letter
  • Go to Mission Portal for medical records
  • Has curvature of pinkies…. whirl posterior placed on scalp
    60 cm long…23.5 inches
  • Drawing blood on me and Nicole and Pyper today
  • Took picture for facial recognition program that looks for genetic abnormalities

Pyper ENT Surgery Follow up Dr. Roberts 11-21-17

  • Why is she still on oxygen? Not sure… said it sounds like she is still having aspiration episodes
  • Is she refluxing and aspirating? Could be but doesn’t think so… He said prilosec twice a day is the thing to do…he recommended the Nissen surgery for reflux…he also said ask for 2nd opinion at Chapel Hill
  • When does squeak go away? 8 to 12 months usually
  • Ask about airway team in Chapel Hill… Dr. Roberts said they’re great and he s worked slot with them
  • Get appt in 2 to 3 months to make sure we are going in right direction
  • Have Chapel Hill send him notes
  • Dr. Roberts will be happy to work with Dr. Kiser if needed for GI procedures
  • He said her breathing bothers him but wants to keep her out of hospital
  • Tuesday January 30th at 09:50 follow up

 

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