SweetP3esmama
New member
I'm new to this site so here's a little background. My son, now 13 months, was born in Jan 2012 by emergency c-Section due to Placental Abruption. He lost a good deal of his blood and ingested and inhaled blood . He was resuscitated at birth and again later that same day . He was transferred to Childrens National in DC where he was placed on a hypothermic bed for 3 days to help reduce his brain swelling and a ventilator for several days then O2 in addition to every other tube in every part of his body. Upon being released from the NICU 2 weeks later he was still very rattly, slightly mucousy and congested but we were told this was due to him healing from the vent.
we were told he may not walk or talk, and most likely would have major hand / eye coordination problems. So far, he's walking like a champ, running even. Babbles nonstop and has no problems with coordination for a 1 year old...Hurdle #1 passed. This is where the new scare began. My husband discharged from the military in March and we returned home with no healthcare and no pediatrician. One of my sons delivering doctors tracked my number down and was frantically calling me to inform me that his second set of newborn screenings showed elevated IRT scores. After a brief freakout, we got health insurance and a pediatrician who referred us for the sweat test. We waited and waited and finally had it done and the results came back negative. WHEW! Hurdle #2 passed... Little man continues to be sick though, non stop respiratory illness. He gets diagnosed as having reflux... zantac helps a little but he's still very rattly in the chest, always sounds like he needs to cough but just... won't. Finally gets diagnosed as asthmatic after having bronchitis and croupe and "allergy" like attacks.
So now, up to the current time. My son sees a pulmonologist who is also a CF specialist. She asked if he had been tested for CF because in addition to his respiratory issues, he also had digestive problems. She saw he'd had the sweat test and said ok.. it's negative and he's just asthmatic. After spending the past 2 months on Pulmicort, Advair, DuoNeb, and Prednisolone, they decided that sometimes momma's incessant asking deserves some attention and they ordered the DNA Ambry on him. After some thought, and further looking around I thought that maybe he has BPD because of his traumatic neonatal experience. I spoke with his pulmonologist who agreed but said we needed to wait on his test results before ruling out a diagnosis. BUT, she was leaning away from CF.
I got the call yesterday that his DNA results were back in and that they indeed came back with 2 mutations. But they are still unsure as to how to diagnose him. They say one of the genes is a CF gene and the other is unknown (P.R31L and P.3967S) we have a ton of appointments set for the rest of the month... Barium swallow to check his anatomy cause he's constantly choking, another sweat test, not really sure what they are looking for in that? A bronchoscopy, genetics counseling, regular pulmonology check up... regular peds appt because little bum is sore from constantly pooping...
I don't really know what I'm supposed to be expecting... I didn't get a yes... I didn't get a no. So here we are again... waiting on an answer and what we're supposed to from here. I'm wondering though if anyone else has an experience like this.
thank you for your time and patience
we were told he may not walk or talk, and most likely would have major hand / eye coordination problems. So far, he's walking like a champ, running even. Babbles nonstop and has no problems with coordination for a 1 year old...Hurdle #1 passed. This is where the new scare began. My husband discharged from the military in March and we returned home with no healthcare and no pediatrician. One of my sons delivering doctors tracked my number down and was frantically calling me to inform me that his second set of newborn screenings showed elevated IRT scores. After a brief freakout, we got health insurance and a pediatrician who referred us for the sweat test. We waited and waited and finally had it done and the results came back negative. WHEW! Hurdle #2 passed... Little man continues to be sick though, non stop respiratory illness. He gets diagnosed as having reflux... zantac helps a little but he's still very rattly in the chest, always sounds like he needs to cough but just... won't. Finally gets diagnosed as asthmatic after having bronchitis and croupe and "allergy" like attacks.
So now, up to the current time. My son sees a pulmonologist who is also a CF specialist. She asked if he had been tested for CF because in addition to his respiratory issues, he also had digestive problems. She saw he'd had the sweat test and said ok.. it's negative and he's just asthmatic. After spending the past 2 months on Pulmicort, Advair, DuoNeb, and Prednisolone, they decided that sometimes momma's incessant asking deserves some attention and they ordered the DNA Ambry on him. After some thought, and further looking around I thought that maybe he has BPD because of his traumatic neonatal experience. I spoke with his pulmonologist who agreed but said we needed to wait on his test results before ruling out a diagnosis. BUT, she was leaning away from CF.
I got the call yesterday that his DNA results were back in and that they indeed came back with 2 mutations. But they are still unsure as to how to diagnose him. They say one of the genes is a CF gene and the other is unknown (P.R31L and P.3967S) we have a ton of appointments set for the rest of the month... Barium swallow to check his anatomy cause he's constantly choking, another sweat test, not really sure what they are looking for in that? A bronchoscopy, genetics counseling, regular pulmonology check up... regular peds appt because little bum is sore from constantly pooping...
I don't really know what I'm supposed to be expecting... I didn't get a yes... I didn't get a no. So here we are again... waiting on an answer and what we're supposed to from here. I'm wondering though if anyone else has an experience like this.
thank you for your time and patience
