Jackie’s publication with the American Journal of Medical Genetics was accepted January 7, 2018 and our Genetic Counselor Hailey sent us a copy on February…
Category: Jackie’s Updates
One Proud Mama
As I navigate my current choppy waters, I received some wonderful news about the possible publication that we learned of back in early November. I am…
Possible Publication
Today I received a phone call from our Genetic Counselor from Cardinal Glennon. She first wanted to check on Jack and I to see how…
Other Thoughts and Readings
We know that Scimitar Syndrome/ Hypogenetic lung syndrome were the syndrome’s that the doctors were placing Jackie’s conditions under after my discussion with Dr. Cibulskis in March.…
DHCR7 Smith-Lemli-Opitz Syndrome (SLOS) – 6.2.2017 Letter from Cardinal Glennon
Genetic Testing Report Test(s) Requested: DHCR7 Smith-Lemli-Opitz Syndrome (SLOS) Relevant Information: This individual’s child with history of congenital heart defects, right-sided diaphragmatic hernia, cryptorchidism (failure of…
DHCR7 Ashley’s Results
I received a phone call from Hailey with our genetic team on Monday while Jack and I were enjoying a fun-filled family vacation/ reunion. I was unable…
Extensive Genetic Test – 5.12.2017 Letter from Cardinal Glennon
As discussed in my last post regarding the “Extensive Genetic Test Results”, this is the letter that was mailed to us regarding the phone conversation…
Extensive Genetic Test Results
I received our phone call from our Genetic team on Friday May 12th in the afternoon. Jackie’s results came back. I was shocked to hear…
Autopsy Results
Please keep in mind that the shared information below are from my notes that I took during the phone call with our doctor. I may not have…
Autosomal Inheritance
There are moments that feel so ordinary, so ordinary they remind me of my life before Jackie. It’s as if everything is back to how…