This past week we made a trip to UNC-Chapel Hill in North Carolina to meet with the Pulmonologist who diagnosed Sophie with PCD, Primary Ciliary Dyskenisia. We agreed to take part in a current study which includes PCD so we made a trip up there for testing and for the doctor to examine Sophie.
PCD is usually a disease that is passed down genetically but there are new links between this disease and certain genetic syndromes, Cri du Chat Syndrome is one of those genetic syndromes. I was initially told that Sophie had PCD but not from her 5p- deletion and it was also ruled out that the link was not genetic. That left alot of questions. So when I was contacted by UNC about bringing Sophie back for more testing I was confused thinking they wanted to repeat the testing for PCD because they suspected a possible misdiagnosis. I was wrong.
In other patients with PCD the link between the chromosome 5 deletion, aka Cri du Chat Syndrome and PCD were apparent. In Sophie’s case it is proving harder to map out but the doctor is certain Sophie’s PCD was caused by her 5p- deletion. Sophie is just making the doctors work harder to map out exactly where and what area is responsible for causing PCD and what type of PCD defect she has, she is making them (the doctors, researchers) think out of the box as she does everyone else.
There is no doubt Sophie has PCD, this was verified by the doctor. There was also a nitrous oxide test that was performed wich came back consistent with PCD as they expected. Once I discussed it all with the doctor I was relieved, not because my daughter has this disease but because if she did not then we would be back to square one with no answers and no direction for treatment. Despite the devastating diagnosis of PCD I am truly grateful that I know what we are dealing with.
The doctor was pleased with her state of health considering everything she has to deal with. The Dr. who performed her lung biopsy last year and who was also involved in ruling out PCD said Sophie looked like a different child. That was huge, she said Sophie looked so healthy and lively. Compared to her deteriorated state last year when she had her sinus surgery she truly is a different child.
Thanks to this PCD diagnosis Sophie’s doctors were able to come up with a treatment plan that seems to be working. Sophie is now on Rocephin via her nasal irrigator everyday, she receives two or more treatments with her compression vest everyday; along with 2-6 breathing treatments and her other meds and vitamins.
We have to basically keep Sophie in a bubble because every little bit of exposure is critical to her health, this one day trip to NC resulted in a respiratory infection that she is till fighting off.
Sophie was born for more than just being my daughter, her presence in this world has been felt. She has changed lives, starting with mine. Sophie has opened the door to help Science in many ways and Dr. Leigh the Pulmonoligst who found her PCD said that she would be a super star and be the key to opening the door to understanding and maybe even possible treatment options for others in the future.
My Sophie. She is my shining star! She is my inspiration. My miracle baby!
(Sophie at the Hotel, she loves elevators. She is so independent now when it comes to walking) When you look at her, and interact with her you know with no doubt she is perfected by the hand of God. Beautiful innocence!
So glad you got a diagnosis which should help in her treatments. We all have a purpose –
Sophie is really a special little girl indeed
Thank you Wendy.