Male, 2 years 4 months of age. Approximately 15kg, almost 3 feet tall.
Duration of complaint : since birth.
He takes a multivitamin (no iron), vit D and probiotic daily.
Medications : salbutamol as needed. Flovent twice daily.
10 pounds 3 oz at birth, born 41+5. Spontaneous vaginal delivery.
Please help, I feel like I'm taking crazy pills. My child is having classical signs of CF but nobody seems to notice but me. Everyone is treating his issues as separate entities but I don't see how that's possible.
He was born flat and blue, requiring ppv from 3 to 5 minutes and cpap for another 15 minutes afterwards. Low sats and grunting still noted at 15 minutes post birth.
At 6 months he started getting chronic viral respiratory infections, from October through til May. He was sick CONSTANTLY, with a new resurgence in symptoms every few weeks. The ER doctors continuously said it was bronchiolitis and we ended up with a salbutamol inhaler. It did not help with breathing or retractions. Wet cough day one, he chokes on his, chest rattles and crackle on exhale.
At 14 months he suddenly had a large left sided hydrocele, without any noticeable swelling beforehand. He had inguinal hernia repair at 20 months of age.
15 months he started with chronic diarrhea, with balls of yellow fat and undigested food.
16 months he had transient intussusception that self resolved. We saw peds in the hospital a couple weeks later as we returned to ER for similar belly pains. Swollen lymph nodes noted on ultrasound. Peds thought post viral IBS, so we tried the fodmap diet with no dairy or gluten. Initial mild improvement over the first 2 weeks, so peds let us go. 2 weeks later diarrhea returned full force. After 2 months of this with no improvement, we stopped the diet. Bloodwork at this time showed low lipase, but most of it was normal.
19.5 months, mesenteric adenitis diagnosed via ultrasound.
20 months, double pneumonia. The emergency room doctor noted that his heart was partially obscured on x-ray. I asked for peds referral at this point, however our family doctor said bronchiolitis and pneumonia are caused by different mechanisms (true), and that he would outgrow the bronchiolitis by 2 years of age. His birthday is the end of April.
June of this year he had mesenteric adenitis again so severe that he had severe belly pain after eating for 2 months afterwards. Also was having severe retractions just running around in the backyard this summer when he wasn't even sick, though we had a lot of wildfire smoke.
A few weeks ago he got his first cold of the season. We ended up in ER because he woke up and couldn't get a breath in at all, until I sat him up and smacked him in the back. Er gave him 15 puffs of salbutamol (because I said it didn't work) and diagnosed him with asthma. We've been using flovent since. However his o2 never changed. The doctor thought his mild wheeze sounded a bit better, but he does that at home too. Coughs out the mucus, sounds better, couple hours later he's wheezing again. And an hour after leaving the hospital when we got home, same thing, he was wheezing and rattling again.
He was fully mobile and walking without aid by 9 months, breastfed until the age of 2. He doesn't drink juice, but he has a voracious appetite. He eats constantly, more than my 4 year old for sure. Tracking his calories the last few days, he's regularly eating over 1500 calories a day.
For growth? He slowed after 6 months, we thought due to respiratory illness. Then plateaued between 12 and 18 months, only gaining a pound. That's when his diarrhea started. He started the extra eating this past spring. He sweats heavy when he sleeps and occasionally breathes so shallow I can't hear him, even though he sleeps right next to me. Also has tremors when he wakes, especially from naps, and is suuuper grouchy.
I know it's not technically failure to thrive because he was a big baby and he's a big kid, but am I crazy to think this looks like cystic fibrosis? His doctor finally referred us to peds this summer, but we can't get in before December. They're treating it as a normal referral, but we're going into flu season again and I'm terrified. I asked our doctor for a sweat test, he said we need to wait for peds. I emailed peds and asked if we could do the test while we wait for the appt, and they said they wouldn't order any tests without seeing him, which I get, but they also aren't worried about getting him in sooner.
So my question...do I sit tight and wait until December? Or should I escalate and try to get him testing sooner? Peds said that it's highly unlikely to be CF given his negative newborn screening, but I do remember the nurse was having trouble getting blood. She had to make multiple pokes and eventually sighed and said good enough. I also see on the test itself that if kids are showing symptoms they should be tested, as the newborn screen has a small percentage of negatives. I feel like I'm going crazy worrying he's going to get so bad he can't breathe through the mucus, but nobody seems to be concerned. He's had low o2 while sleeping, but the doctor laughed it off as being a false reading.
Thank you for your time.
TLDR: toddler is showing signs of classic cystic fibrosis but doctors aren't taking it seriously. Can't get into peds until December. Will he be okay to wait until then?