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UPDATE from APPT: 8 yo with pancreatic insufficiency, fighting for genetic sequencing
- Thread starter Julie7
- Start date
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sanfloraine
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8 yo with pancreatic insufficiency, fighting for genetic sequencing
Julie: your son's case sounds similar to my son's problems as well.
My boy is 24 months old. He started to have the worst stinky diarrhea after I stopped breastfeeding him at 13 months old. Diagnosed in January at PI (fecal elastase at 148 in February, to be repeated in August). He takes ZenPep at every meals. His weight/height curve is fairly OK, though on the small side and he seems to be stuck right now.
Negative sweat test. He had a fairly complete genetic testing of almost 2000 mutations (but no deletion/replication so not really complete), one mutation, I think it's the same than yours. Based on all of that he has been cataloged as having CRMS (CF related metabolic syndrome) by his GI (not a CF specialist but he consulted with a CF GI specialist to give this diagnostics).
Now CRMS is a grey area and we are very worried about CF. Other symptoms here:
- my boy often has airway congestion, he is on Flovent
- he had unexplained hypotonia of the legs as a baby, finally started to walk at 19 months old - we now assume it was from malnutrition (there is a similar case on Great Strides, and the parent say malnutrition is what caused their baby's hypotonia).
- he just had adenoids/tonsils surgery and the ENT doctor mentioned CF because this area of his body was full of thick mucus that this doctor generally sees with CF kids - he has done this surgery many times on healthy and CF kids. We got this last bit of information last week and we are very worried.
We are fighting to be taken seriously by our local CF clinic. We saw them last in February before the genetic results. We got the impression that they totally ignore grey cases, it's only black or white for them. Not happy about that. We have an appointment in July but if they keep ignoring us we will fly to an other clinic. Unfortunately there is only one within driving distance.
Keep fighting for a diagnostic, we parents are the best and often only advocates for our children!
Julie: your son's case sounds similar to my son's problems as well.
My boy is 24 months old. He started to have the worst stinky diarrhea after I stopped breastfeeding him at 13 months old. Diagnosed in January at PI (fecal elastase at 148 in February, to be repeated in August). He takes ZenPep at every meals. His weight/height curve is fairly OK, though on the small side and he seems to be stuck right now.
Negative sweat test. He had a fairly complete genetic testing of almost 2000 mutations (but no deletion/replication so not really complete), one mutation, I think it's the same than yours. Based on all of that he has been cataloged as having CRMS (CF related metabolic syndrome) by his GI (not a CF specialist but he consulted with a CF GI specialist to give this diagnostics).
Now CRMS is a grey area and we are very worried about CF. Other symptoms here:
- my boy often has airway congestion, he is on Flovent
- he had unexplained hypotonia of the legs as a baby, finally started to walk at 19 months old - we now assume it was from malnutrition (there is a similar case on Great Strides, and the parent say malnutrition is what caused their baby's hypotonia).
- he just had adenoids/tonsils surgery and the ENT doctor mentioned CF because this area of his body was full of thick mucus that this doctor generally sees with CF kids - he has done this surgery many times on healthy and CF kids. We got this last bit of information last week and we are very worried.
We are fighting to be taken seriously by our local CF clinic. We saw them last in February before the genetic results. We got the impression that they totally ignore grey cases, it's only black or white for them. Not happy about that. We have an appointment in July but if they keep ignoring us we will fly to an other clinic. Unfortunately there is only one within driving distance.
Keep fighting for a diagnostic, we parents are the best and often only advocates for our children!
8 yo with pancreatic insufficiency, fighting for genetic sequencing
Sanfloraine,
I am flying my son to Boston next week for a second opinion. His current GI who works at an accredited CF hospital never heard of the 5T poly and went on to say there are over 100 CF mutations. Yes, that's right, he said 100. I don't think he knows much about CF at all. I can't wait to go to Boston. I bet my son has been PI for years due to his poor growth and it just took do long to manifest itself in a way that as parents you could not ignore. His symptoms were so subtle and each one could be explained away. When it got so bad that he wouldn't eat and went diarrhea 10+ times per day, that's when we got the diagnosis of PI.
I think you should get the second opinion started. I started the process in April and finally have it all set up with all records, pathology transferred, etc.
Thanks for sharing and keep me posted. I will post what Boston says of course.
Sanfloraine,
I am flying my son to Boston next week for a second opinion. His current GI who works at an accredited CF hospital never heard of the 5T poly and went on to say there are over 100 CF mutations. Yes, that's right, he said 100. I don't think he knows much about CF at all. I can't wait to go to Boston. I bet my son has been PI for years due to his poor growth and it just took do long to manifest itself in a way that as parents you could not ignore. His symptoms were so subtle and each one could be explained away. When it got so bad that he wouldn't eat and went diarrhea 10+ times per day, that's when we got the diagnosis of PI.
I think you should get the second opinion started. I started the process in April and finally have it all set up with all records, pathology transferred, etc.
Thanks for sharing and keep me posted. I will post what Boston says of course.
8 yo with pancreatic insufficiency, fighting for genetic sequencing
Update
Had second opinion at Boston today, not much to say. Pulmo said he would speak to GI and present us with a plan. Bc of the 5t variant, they expressed interest in doing some more DNA sequencing from Ambry as well as other testing (CT scans, bronch, stool tests, ENT for sinuses, etc), but nothing ordered today. Second sweat test today negative though they did acknowledge that is not definitive.
So, I'm just mentally drained and realize we are making progress but it's not fast enough. The GI said he doesn't do pancreatic stim tests here and therefore can neither confirm nor negate his PI diagnosis. All I know is what I see and the enzymes have reduced his D from 10-20x day to 1-2/day.
2 steps forward, 3 steps back...Also suggest anyone that goes for second opinion, bring paper records as sending them in advance did not seem to help. I had to hand over my personal copies.
Julie
Update
Had second opinion at Boston today, not much to say. Pulmo said he would speak to GI and present us with a plan. Bc of the 5t variant, they expressed interest in doing some more DNA sequencing from Ambry as well as other testing (CT scans, bronch, stool tests, ENT for sinuses, etc), but nothing ordered today. Second sweat test today negative though they did acknowledge that is not definitive.
So, I'm just mentally drained and realize we are making progress but it's not fast enough. The GI said he doesn't do pancreatic stim tests here and therefore can neither confirm nor negate his PI diagnosis. All I know is what I see and the enzymes have reduced his D from 10-20x day to 1-2/day.
2 steps forward, 3 steps back...Also suggest anyone that goes for second opinion, bring paper records as sending them in advance did not seem to help. I had to hand over my personal copies.
Julie
8 yo with pancreatic insufficiency, fighting for genetic sequencing
I guess being so tired I am also being harsh. The pulm dr could talk circles around the smartest, that was clear. He was thorough and now I wait for their suggested plan.
Made it back to Philly, back to work tomorrow!
I guess being so tired I am also being harsh. The pulm dr could talk circles around the smartest, that was clear. He was thorough and now I wait for their suggested plan.
Made it back to Philly, back to work tomorrow!
We are still here everyone, waiting and still waiting. While we wait for the plan my son has missed one or two doses of his enzymes. Every instance he complained of stomach pain except once when he ate a burger and pretzels. Otherwise I think his dose of zenpep 15 is too low. His dose is officially 1 cap per meal and 1/2 with snacks. Dr in Boston picked up on that right away, he is 50 lbs, and we have noticed he does better on 2 caps per meal. Not sure what was up with no pain in that isolated meal w/o enzymes but generally speaking, he can't eat a meal w/o them, bc of pain and/or urgent trip to the bathroom. I suppose nothing is ever straight forward and could be that the burger was digested easier bc of protein and carb content, though I would have thought the fat content would result in symptoms. And yes, I find it extremely aggravating that I cannot figure this out for myself.
I am trying to be patient over here, I just need Boston to write down and order some new tests so we can try to make some progress here.
I am trying to be patient over here, I just need Boston to write down and order some new tests so we can try to make some progress here.
S
sanfloraine
Guest
My son cannot eat burgers even with enzymes. Otherwise massive diarrhea. We now have to prepare his lunch for day care because theirs was way too greasy, it helped. We keep him on a lean diet, and very little man-made sugar as well.
Have you heard back from Boston?
Have you heard back from Boston?
S
sanfloraine
Guest
Thanks Printer. Our son takes the maximum of enzymes he is allowed per day - 7 10,000 Zenpep for 30 lbs. We are seing a CF GI in a month, we'll discuss fatty foods he currently does not eat. He does diggest fats from cheese quite well. He is doing great right now, still has baby fat on him at 25 months old!
8 July UPDATE from APPT: 8 yo with pancreatic insufficiency, fighting for genetic sequencing
Well, just thought I'd post an update although there is not a whole lot to say. We are still waiting for the second opinion plan of action, which will hopefully include amplified DNA testing for CF, SDS and PCD as well as some others. Will just keep calling and emailing until we get the plan of action. Saw the pulm dr down here where we live. He agreed to see my son in the CF clinic every 3 months, but would not prescribe any preventative treatments bc he does not fit criteria/guidelines for CF. Just monitoring PFTs, nutrition and cultures - every three months. He suggested we might consider a genetics expert down at Hopkins so pending the 2nd opinion, that will be our next stop. Also was told we should see endocrinologist for his short stature, so guess will make that appointment next week. I am trying to get my son to do some saline rinses on his nasal passages daily, he doesn't like it a bit, but sure cleans out his sinuses well. Continuing on his enzymes which we have had to increase a bit, but he has gained a few pounds, 53 pounds last visit - yihaa!! Thanks for everyone's support, it really helps.
Well, just thought I'd post an update although there is not a whole lot to say. We are still waiting for the second opinion plan of action, which will hopefully include amplified DNA testing for CF, SDS and PCD as well as some others. Will just keep calling and emailing until we get the plan of action. Saw the pulm dr down here where we live. He agreed to see my son in the CF clinic every 3 months, but would not prescribe any preventative treatments bc he does not fit criteria/guidelines for CF. Just monitoring PFTs, nutrition and cultures - every three months. He suggested we might consider a genetics expert down at Hopkins so pending the 2nd opinion, that will be our next stop. Also was told we should see endocrinologist for his short stature, so guess will make that appointment next week. I am trying to get my son to do some saline rinses on his nasal passages daily, he doesn't like it a bit, but sure cleans out his sinuses well. Continuing on his enzymes which we have had to increase a bit, but he has gained a few pounds, 53 pounds last visit - yihaa!! Thanks for everyone's support, it really helps.
Oh my goodness!!! Julie that is just unbelievable that the Boston dr has not gotten back with you yet!! I would be beyond angry!! You went all the way there for help and he agreed to help, but now has put you and your son on the back burner!! I am so sorry that you are having to go through this!! I went through something very similiar trying to get Abby's diagnosis, only I didn't have a clue what was wrong with her, but the 20 something dr's I took her to were no help! Then when she was almost 2 a dr finally sat down and actually listened to me instead of pretending to and shooving an antibiotic down are throats so they could see the next patient, and we finally got our diagnoses. I think I would be calling that dr every day and let him know that he said he would help...is he actually gonna stand up and help or be a waste of your time and money like everyone else. Bless yalls heart!!! It just makes me soooo mad when drs don't take care of the people who went to them for help!! Keep fighting girl!!! Get out the boxing gloves...like I was told as parents WE are our childs best advocate!!! Lots of hugs and prayers!!!!
Ok, new update, got the plan.
New bloodwork for PCD, amplified CF and SDS. New endoscopy with bronchoscopy to be scheduled in August. No NPD bc dr doesn't feel it is warranted and apparently it is quite a difficult test (uncomfortable) for children to complete.
Dr doesn't think he fits criteria for CF but that still leaves an unclear picture of why he is PI. No CT scans of nasal passage or chest at this time, bloodwork first.
New bloodwork for PCD, amplified CF and SDS. New endoscopy with bronchoscopy to be scheduled in August. No NPD bc dr doesn't feel it is warranted and apparently it is quite a difficult test (uncomfortable) for children to complete.
Dr doesn't think he fits criteria for CF but that still leaves an unclear picture of why he is PI. No CT scans of nasal passage or chest at this time, bloodwork first.
Update...my son was admitted Tuesday am for extreme belly pain. Lots of details, too much to say, but please send any positive vibes his way right now. He got an NG tube yesterday, we know there is inflam in his rt colon near or at ileum. Not sure if this is related to PI or separate (like IBD). 2 X-rays, 2 US, CT, 4 enemas, prep for colonoscopy this am, then some nutrition thru NG. Bronch showed bronchomalacia on one side, cultures/biopsy/Ambry pending. Pretty certain not DIOS/block given all the imaging. US was looking for intessuption (telescoping of intestines) not found.
Discharged today after almost 3 wks in the hospital. Final dx include gastroenteritis, acute pancreatitis and ileus. Questionable whether gastroenteritis was ever present but it's hard to say, viral if anything.
Ambry pending, due w/in two weeks and additional pancreatic genetics ordered outside of CF related. PFTs perfect. Pulm team says CF do unlikely given PFTs and negative sweat tests. I hope they are right.
Boston Children's hospital is awesome, that's for sure!!
Ambry pending, due w/in two weeks and additional pancreatic genetics ordered outside of CF related. PFTs perfect. Pulm team says CF do unlikely given PFTs and negative sweat tests. I hope they are right.
Boston Children's hospital is awesome, that's for sure!!
hello I am new to this forum/site. Am wondering if anyone could help me and give me some info on this. My son, 3yrs old, has already had several pneumonia's, 3 sinus surgeries, and greesy or gummy stools, he has also been diagnosed with severe asthma, and hyperimmunoglobin Syndrome. Today his genetic workup came back as : c.1408A>G; p.Met470Val (two copies) could someone please help me with info.
thanks so much for your help, I truly love this forum thus far.
I am not sure at all what this can mean or have to do with CF.
thanks so much for your help, I truly love this forum thus far.
I am not sure at all what this can mean or have to do with CF.
Shellee, a few years ago I met someone online whose son had similar issues, Hyperimmunogloblin syndrome as well as two copies of rare cf genes = CF. He also has some other issues. The doctors prescribed a vest for chest physiotherapy and also digestive enzymes being that he was malabsorbing fat. Have they referred you to a CF clinic at all?
Ratatosk,
Thanks so much for your reply. Yes they have referred us to a CF clinic, we go on the 29th of January. I am glad to know that you have met someone with some same similarities as my 3 yr old. Do you by any chance know what his genes mean that they found?
Thanks again so much,
shellee
Thanks so much for your reply. Yes they have referred us to a CF clinic, we go on the 29th of January. I am glad to know that you have met someone with some same similarities as my 3 yr old. Do you by any chance know what his genes mean that they found?
Thanks again so much,
shellee