looking for help with questions to ask, and names for second opinion

BarbaraW

New member
I know that I have posted about this many times before, but we are seeing a new doctor in August, and I am trying to get my thoughts together. It is a doctor at the same clinic that we currently go to, so if anyone has any other suggestions near the Boston area, I would love those names as well. I think we may be happier trying a different clinic, because I don't think one doctor will change what another doctor is saying, when they are in the same clinic.
Just a re-cap of our story - I know many have read it before, but just in case.
I have 4 kids. ODS is 9, ODD is 8, and the twins are 6, almost 7. ODD and YDS are dx with CRMS.
ODD, Lillian has been sick since birth. She was on TPN for two years, is still considered FTT (48 pounds at 8 1/2), is PI, and has frequent respitory/ear/sinus infections. She is on her 6th set of ear tubes, has had ear and sinus polyps, and has had frequent pneumonias. She currently takes zenpep 20, 4 with meals and snacks, source CF, fluticasone, albuterol, simply saline, and omeprazol. Her PFTs are usually lower than the doctor likes, but come up with albuterol. She has had 4 sweat tests - 56,59,39, and 11 (this was in the past few months).
According to the ambry test, she has the S1235r mutation. She is dx with CRMS, and is not recieving chest PT. She cultured staph when she was bronched in November.

YDS, Jack is also pancreatic insufficient. He takes Creon 12,3 with meals and snacks. He weighs 35 pounds and is also FTT. He gets pnuemonia a few times each year, always diagnosed by x-ray. He had a partially collapsed lung about 6 months ago, that respnded to treatment right away. He frequently - a few times a day coughs up mucus, often blood tinged. He has had 3 negative sweat tests - 36, 59, and 20. According to the pulm, his fingers are slightly clubbed, although I do not see it. He has cultured both staff and hemophilus influenza. He takes creon12, omeprazole, singular, fluticasone, flovent, and singulair.
Both kids are on enhanced contact precautions at the hospital.
Ambry also showed that he had the S1235R mutation, but nothing else.
Honestly, I don't care if they are dx with CF, or CRMS, or whatever, as long as they get the stuff they need.We seem to be treating the issues as they arise, but their doctor is not prescribing chest PT, and insurance will not cover a vest or any of the stuff, since they are not dx with it. I worry that without doing chest PT, their lungs will get worse.
Their doctor feels that they are just a carrier of the S1235R mutation, and that all the issues they have are due to being carriers. He feels that their upper respitoary infections respond to the antibiotics, and that to have them do chest PT would be overkill, since it takes so much time.
So, if anyone has the name of a great doctor in Boston that could give us a second opinion, that would be great. Also, any questions to ask at our second opinion appointment would be wonderful as well.
Maybe I am crazy, and there really is nothing more going on than them being carriers, but I don't know.
Thanks!
 

Julie7

New member
Have you talked to your doctors about some of the benefits about being Dx'd w/ CF, ie maybe more insurance coverage on items for prophylaxis? I am confused. I feel like I have read similar less mild stories and those patients are Dx'd w/ CF. even w/o finding any mutations, I've read of dx'ing CF.
I am hoping someone on these boards can shed some light of this and share with others bc I would like to understand.
The flip side of the dx is of course difficulty obtaining new medical/life insurance, etc. do you it has anything to do with putting a label on your kids? Guess I am surprised.
If you wanted a true second opinion, I would seek out a larger center, even more prominent than the current clinic. Maybe you could find out through these boards where others w/ CF w/ same mutation go??
Wish you the best.
What about doing chest PT anyway, w/o the expensive vest?
 

BarbaraW

New member
I did get a name of a doctor at another clinic close by, so I am going to make an appointment there and see what they say. According to our current doc, they don't want to dx them with cf because of insurance, b/c of everything it would entail, and because he feels that with the negative sweat tests and only one mutation that they are just carriers with sypmtoms.
 

UNCLoveCF

New member
I know it would be a long drive of flight but I highly recommend the Children's CF Clinic at UNC Hospital. UNC (University of North Carolina at Chapel Hill) is known for genetic studies and especially CF research. The team of doctors at UNC CF Pediatric Center have established a great program and are leaders in the CF field. And with all of the ongoing genetic research at UNC they may be able to offer your family more insight. It would be worth considering for a consult visit. I find that people who visit UNC CF Center from other centers are usually pleased with their CF care and approach to treating CF patients. I refer friends to UNC CF center on a regular basis and have found they will travel hours to get to UNC. There are patients who travel from the west coast to see doctors at UNC.
 
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