CF Limbo-Update on immunodeficiency

[Julie7]

My 11 year old son has been in limbo for 5 years now. I've posted here before but I have new information.
Stomach pain started at age 7. Chronic sinusitis and bronchitis. Cultured stap and h flu so far. PI diagnosed at age 8 via pancreatic stim test. Enzymes treated for 8 months with improvement until age 8 when acute event of partial SBO and acute pancreatitis landing him in hospital for one month.
He is treated at Boston Children's hospital via the CF center. Conflicting opinions so enzymes were removed.
Currently he is 9th percentile for height with decent BMI.
DNA sequencing done 5 years ago finding 2 copies of M470V and 5T/12TG and 7T/11TG.
New information. Tested negative for PCD (not a surprise) and did an immunology panel. Nothing interesting EXCEPT Strep Pneumo Ab, IgG, 23 Serotypes. 21 out of 23 serotypes are far below normal range, like 10 fold in many serotypes. 1/2 normal serotypes is barely normal. He had Prevnar 7 as an infant.
Dr suggests running hflu panel as well.
So now what?? How many people with no underlying disorder have results like this? If he has immunodeficiency, this could be another piece to the CF puzzle. Welcome any thoughts.

 

[Julie7]

Bump-please read

Bump-please read

 

[jshet]

I am sorry I have no thoughts on this, but feel bad you have not received a response. It's a busy time of year, and I am thinking maybe the the members who are so much more knowledgable, have been busy with the upcoming holiday celebrations.
hang in there. As difficult as it is without a clear diagnosis for your son, the most important thing is that his symptoms are beng treated. Due to a screw up at a cf accredited children's hospital my son went undiagnosed until the age of 14. But because of an amazing pediatrician who treated my sons symptoms even without a clear diagnosis, my son is doing pretty well. I honestly feel that there was not much change in his care after the diagnosis.
I know how crazy it can be to not know if he has it or not, but at the end of the datpy the most important thing is that he is receiving treatment.

 

[Julie7]

Thank you jshet. He is only being monitored but not doing anything proactive. For example, called the CF clinic I'm trying to make a sick visit today for possible pneumonia for my son and he is not on the priority list to be seen bc he doesn't have a formal diagnosis...
Thanks for your thoughts.

 

[Ratatosk]

Online I know a mom whose child has a very rare cf mutation, as well as being immune issues. They kept diagnosing him wcf and then saying he didn't have it. But they treat him as if he does have cf --- vesting, nebs and I think he was even on enzymes. I'll PM you her contact info. There's was also an adult wcf who had additional auto-immune issues who used to post on this site..

 

[jshet]

If you can't get into your cf doc, call his pcp. You do not want to wait on this, especially with the holidays coming. I hope he is ok.
my son has the M470V also. Though not considered to be disease causing, that may change at some point. My son is diagnosed with cf based on 1 positive and 5 high borderline sweat tests. He is PI and badly FTT. He is 5'5, and weighs 75 lbs., had a g tube, and port for infusion therapy for low bone density. His worst issues are gi, with the lung function beginning to fall. His cf. Doc, who is the head of the cf center and has written a book, says that cf can be diagnosed clinically when the symptoms are there, and the treatments are working. Based on my sons sweat tests, PI, and lung issues with response to all therapies, he has cystic fibrosis, and is treated as such.
What were your sons sweat rest results? Maybe it's time for a second opinion for your son. Good luck.

 

[Julie7]

Thanks!! Plus he is currently sick again w bronchitis. Saw cf dr yesterday and he prolonged his antibiotics for a month, gave us pulmicort and I was taught chest pt. fast forward 24 hours and he's worse now spiking a 102.6 fever which I suspect is really 103 bc he can't keep his mouth closed due to coughing. Also makes me suspicious that the augmentin isn't working but we won't have culture back until Friday best case. Cf dr said yesterday it's time to revisit cf diagnosis.