Pancreatic insufficency in siblings (wocf)

S

Skramers

New member
Hi,

I apologise for intruding on this site but I was hoping someone in a similar situation may see my post. I have a 5 y.o daughter who has recently been diagnosed with pancreatic insufficiency and is currently on Creon and Vitabdeck. All her CF tests and SDS tests have come back negative and her paed is now unsure what to test for. Now, our 6 y.o son has also just done a faecal elastase test which came back severely low, so is now getting repeat tests before he gets started on Creon etc.
My question is whether anyone else has siblings with PI, and what other tests we should be looking at getting to try and find a diagnosis?

Thanks very much.

Sarah
 
P

Printer

Active member
Sarah:

Recently, I was having a conversation with my CF Doctor at Boston Children's Hospital. He said, every patient there with PI is given a sweat test to check for CF.

If you will tell me what large city that you live near, I will give you the info on your nearest CF Center.

Bill
 
A

Aboveallislove

Super Moderator
Isn't it also possible that a sweat test would be "negative" but some rarer CF mutations might account for PI? Have they considered doing a full genetic panel (of 1500+ CF genes?)
 
P

Printer

Active member
I have jumped to the conclusion that your daughter and son are not being seen at an APPROVER CD CENTER by an CF Specialist. Sweat tests or CF Screens should not be done by the local Doctor. If this is the case then you need a CF Specialist.

Bill
 
S

Skramers

New member
Hi,

Thanks for your replies. Unfortunately I am in New Zealand and CF Clinics/Centres don't exist. My daughter had 3 sweat tests through our local hospital with them only successfully collecting enough sweat from the final test which came back negative. And she has also had some genetic testing done which showed nothing however I have no idea how extensive our genetic testing is.
 
P

Printer

Active member
There are more than 1800 known mutations, any combination of two can cause CF and therefore PI. Try to get your Doctor to do a FULL CF SEQUENCING. This would test for the 1800 mutations.

In the mean time, the Creon should help. Are she/he/they having pain or really loose stools?

Bill
 
S

Skramers

New member
Both children don't have any loose stools and only my daughter has occasional stomach pain. I will try to convince the Doctor to do a full CF screening but I am not even sure whether our labs are capable of it, genetic testing isn't huge over here yet. He is more inclined to think it is SDS even though they have no other SDS indicators.
 
J

Julie7

New member
How low are the fecal elastase numbers? Were there any further pancreatic function tests done? Fecal fat, what about fat soluble vitamin levels (blood)? Are your children suffering from failure to thrive or what prompted the investigation to look at Pancreas issues? SDS would be even more rare than CF, in terms of statistics I believe. Are your kids sickly? SDS children are usually very ill and sometimes grow out of pancreatic insufficiency as they get older-at least from what I've read.
What about lactose intolerance, GI bugs (there are alot), bacterial overgrowth, celiac, crohns, genetic pancreatic disorders? How are their lungs, any breathing problems?
I have been through a lot of this with my son, he is 8, diagnosed with PI earlier this year via pancreatic stim test. Started enzymes and did better. We also know he is lactose intolerant. Sweat tests insufficient or negative, polymorphisms found on CF testing but none of more common mutations and testing for everything else Has not found anything. Recently he got really ill with acute pancreatitis, and we still don't really know what caused all this. I wasn't satisfied with "your son is PI and we don't know why." So we got a second opinion which still doesn't fully explain everything but at least we have been thorough in our checking.
You can get full genetic sequencing through Ambry. They are a company located in US but accept blood samples from all over the world so it can be done. I hope this is helpful. Feel free to message me.
 
S

Skramers

New member
Hi Julie,

My daughters faecal elastase was 68 and then repeat test was 78 and my son's first test was 74 and we are waiting for the results of his second test. No other pancreatic function tests have been done but my daughter did have her vitamin levels tested and all her fat-soluble vitamins were extremely low apart from her Vitamin D. She has also been tested for cealiacs which was ruled out.
My daughter has not been sickly at all, barely any colds or flus, and has never needed a course of antibiotics in her life. My son has had more ear and chest infections in the past and can get slightly wheezy on occasions.
My daughter sits around 10th percentile for height and weight in NZ, and my son is just under 50th for height and weight so no huge issues with failure to thrive.
My daughter was initially being tested for celiacs when the Dr ticked the box for the faecal elastase test also and it has all snowballed from there.
Just at that frustrating point when it would be nice to have some answers....
 
J

Julie7

New member
I see, yes, those fecal elastase numbers are well below 200 plus vitamin deficiency, thats what i was wondering. I would ask how many mutations for CF were tested, and for the report. Our doctor told me the first CF panel was "normal" and when i requested the record result, there was a notation explaining the polymorphisms found...so I always like to read the results myself. Then we got the "amplified ambry CF testing plus deletions/duplications." this test took 3.5 months to process and looks for over 1500 known mutations for CF. they also ran genetic pancreatic disorder panels which overlaps a bit with CF mutations but there are a few others as well. What were the sweat test numbers? You said normal, were they normal normal or borderline? What about PFTs or any sputum cultures (if either are sick like coughing).
Why was she tested for celiac, was she losing weight or complaining of belly aches? With my son, it all started with diarrhea, stomach aches everyday and large volume stools. He is also small, off the height chart but good weight and bmi. He has chronic sinusitis and gets bronchitis at least once a year. I really understand your stress, for the last year, I feel like I've read every article ever written on pancreatic insufficiency. Before we went for the second opinion, the first dr was just like here, take some Creon and see you in a few months. I'm sorry you are going through this. Have your dr calculated the Creon dose by weight? Do you see an improvement at all with Creon?
I have also read alot on CF and there does seem to be a small percentage that have negative sweat tests, although it is rare. What about ultrasound of pancreas to visualize any physical abnormalities?
 
S

Skramers

New member
I haven't seen the results from the genetic testing or the sweat test, have only been told from the doctor that they were normal. Her growth slowed down once solids were introduced at 5-6mths old, and she had started to complain more frequently of stomach pains and she can get extremely bloated. She has had an ultrasound of her pancreas however there was too much gas for them to get a clear look but they didn't find any calcification which they were looking for??? Have also had stomach, hip, elbow, knee, and wrist x-rays. Other than that we have had no other testing done.
We were sent to a dietitian to sort out her Creon, who has never had to prescribe it for a child before, so I've had to find out as much information as possible to make sure she gets it correct. She started us on 2 with her breakfast, lunch and tea but it didn't seem to be doing much so I now have control and give her up to 15 a day depending on her fat intake (average day is around 9-10). This has only been the past two months so we haven't had another appointment yet to check her current height and weight, and haven't rechecked her vitamin levels yet either.
Unfortunately, things seem to be so slow over here as she got her first faecal elastase test eight months ago, but only just got started on the Creon two months ago. And, our health insurance has denied any claims due to it possibly being genetic.
 
J

Julie7

New member
Your story sounds like mine, except we do have CF centers here. They look for genetic physical abnormalities of the pancreas, clogged ducts, masses (ie malignancies) and general overall appearance. What about milk intolerance? Have you tried eliminating milk products? My son also had upper endoscopy, Bronchoscopy and colonoscopy. I would pursue to full CF genetic testing. Is the Creon working? My son had Creon at first then we switched to Zenpep 15,000 and he was on 3-4 per meal and 2-3 with snack which averaged about 12 per day. He is 53 pounds. It was trial and error for the first 6 months to get the dose right. You're right, it will depend on how fatty the meal is.
 
P

Printer

Active member
Contact the Cystic Fibrosis Association of NZ. Level1 Broadway 62 Riccarton Road Christchurch 8440 Freephone 0800 651 122

Bill
 
S

Skramers

New member
Hi, thanks for the info. Definitely got some more questions for our doctors now, especially to see how extensive the genetic screening was.
 
S

sanfloraine

Guest
Have your children been tested for Celiac Disease? In some cases, patients with Celiac Disease can also be PI with a low fecal elastase.

My son (2.5) is PI but for now CF has been put aside. Negative sweat tests (2), no pneumonia (a little bit of asthma but nothing bad), genetic test showed 1 mild mutation. But yes he is PI, we speak about his stools every day hubby and I. He was doing fairly good but had been going through a growth spurt for the past month with a lot of diarrhea even though we increased his ZenPep to the max dose.

We are going to have him tested a second time for Celiac Disease, he was tested a first time and was negative.
 
S

Skramers

New member
Hi, only my daughter has been tested for celiac disease and her results came back negative, however she hasn't had a biopsy done. I initially assumed it would be celiacs's with her bloating, however the doctors seem pretty convinced from her results that she doesn't have it and said that damage to the pancreas from celiac disease usually takes years and is more likely to appear in adults. Not sure if they are right or not though??
My son is due to get his sweat test next week and then they are both getting full genetic screening. We're also waiting to see an out of town pediatric gastroenterologist so hopefully he may be able to shed some more light on the situation.
 
You must log in or register to reply here.
Top