7 month old son has moderate pancreatic insufficiency. Confused.

[Cricket's mom]

Hello everyone.

We're currently going through testing. Our son just turned 7 months old and has been steadily dropping down the growth charts in weight since birth. He began at the 90th in weight and height and is now nearly 100% for height and has dropped to the 10th% for weight in spite of a larger than typical appetite. He had silent reflux that would cause him to have a frequently raspy voice, when untreated. The ped GI dr, that our ped referred us to, ran an Elastase test. It came back in the range for moderate pancreatic insufficiency. He also ordered a second Elastase test (results showed the same as first) and a trypsin stool test (results not back yet) He then sent us for a sweat test on wed. It was done at a very good hospital but not at a cf center. Both arms, with great amount collected, came back very, very low (8).

A few days before the sweat test our son had developed a chest infection. The evening of the test we started to hear wheezing and saw a bit of mottling around his ankles. The nurse on call sent us to the er. They swabbed him for RSV and ran a chest xray. Diagnosed with bronchiolitis from rsv. This is the second chest infection he's had since birth. The first accompanied an ear infection and the cough resolved on it's own but took a longer time than it always seemed to take with my older kids. At the er last week, they suctioned him, commenting on the "thick" secretions and sent us home advising us to watch for signs of breathing trouble. The following night he started having retractions in his ribs and neck and nasal flaring. We took him back in, they gave him a breathing treatment and kept us for observations. He seemed to feel much better after the treatment and didn't need another and never got a fever. He was suctioned through the night (again comments about thickness) and by morning he was well enough to return home.

After our GI dr got the second Elastase test results back and saw that they were low he ordered a 72 hour fecal fat test. I got the call, letting me know it had been ordered, yesterday evening so i haven't scheduled the visit with a nutritionist yet.


I have read that the sweat test is the "gold standard" for cf testing but i am confused by some of the further tests being run and the symptoms our son has. We just aren't sure what to think.

We haven't had an opportunity to sit, in person, with the GI dr since the first meeting so we haven't had a real opportunity to ask questions and get an idea of his thoughts. I appreciate this forum, all the positive people here really have been a comfort through all of the limbo and uncertainty.

Best wishes to you all.

 

[Ratatosk]

I would push for genetic testing and sweat testing and referral to a cf center. Ds passed his sweat test at an accredited cf center with a normal 32, is pancreatic insufficient. Basic genetic testing showed cf. In any event the weight loss and infection is cause for concern. Would also have them run a cf culture -- throat or sputum to test for cf bugs

 

[Printer]

Your son should be transferred to the nearest Approved Cystic Fibrosis Clinic in Ohio ( there are five). He must be seen by a Cystic Fibrosis Specialist, not anyone else. The sooner the better.

If you will post here, the name of the largest nearby City, I will give you the important Clinic information.

Bill

 

[Cricket's mom]

Thank you so much for the replies. I appreciate the warm reception. As i'm sure you all understand, we're under quite a bit of stress.

I know the location of the local hospital that has a CF Center. I made some calls today trying to figure out the process for transferring his care there. I appreciate that advice so much. It's difficult to find a line between being over reactive and proactive where your children's health is concerned.

I have been very happy with the care he's received from the GI dr. and with his regular Ped, they both have been taking this all very seriously, but i can't help feeling that diagnosis and any needed care, for any possible conditions, might be more directly applied if we move over to a cf center at this earlier stage. I just don't want there to be any consequences from delays, no matter what we may find.

I'll update here if we're able to move over to the UH CF center. Thank you again. All my best

 

[Justinsmama]

Hi,

I am so sorry to hear what you are going though. It sounds a lot like my little (9) guy when he was that age. He went from 75% in weight (25 in height) to below 10% for weight. He also had the reflux that completely shut down his respiratory system (11 days in NICU at CH of Phila) at 3 months old. Our first thought of CF is when he had his elastase test done at 6 (after 6 years of loose stools) and it came back 148, then 70, then 25. At that point his BMI was at <3%. It hurt to touch his little shoulders. He was 40% in height turning 7 and only weighed 38 pounds. After starting him on Creon it was a different story. He was diagnosed at age 7 when he started a string of pneumonia/chest infections. Prior to that we had only thought it was asthma because of a negative sweat test at a CF center. He has a mutation that causes a false negative sweat test. I agree with Printer, get him to a CF Center as soon as you can. Keep your spirits up. This is not the same as it was 30 years ago. Our children will have a cure, and good treatment will help maintain a healthy body for them until the cure comes. Prayers and hugs to you from Penna.

 

[Cricket's mom]

Hi,

I am so sorry to hear what you are going though. It sounds a lot like my little (9) guy when he was that age. He went from 75% in weight (25 in height) to below 10% for weight. He also had the reflux that completely shut down his respiratory system (11 days in NICU at CH of Phila) at 3 months old. Our first thought of CF is when he had his elastase test done at 6 (after 6 years of loose stools) and it came back 148, then 70, then 25. At that point his BMI was at <3%. It hurt to touch his little shoulders. He was 40% in height turning 7 and only weighed 38 pounds. After starting him on Creon it was a different story. He was diagnosed at age 7 when he started a string of pneumonia/chest infections. Prior to that we had only thought it was asthma because of a negative sweat test at a CF center. He has a mutation that causes a false negative sweat test. I agree with Printer, get him to a CF Center as soon as you can. Keep your spirits up. This is not the same as it was 30 years ago. Our children will have a cure, and good treatment will help maintain a healthy body for them until the cure comes. Prayers and hugs to you from Penna.

What a hard journey to diagnosis. I'm sorry your little guy went through all of that. I'm so glad you finally got some answers and that he is feeling better. Our reflux issue isn't that severe (poor little thing) but i do agree it all sounds very familiar. Thank you for the encouragement. It really does help. We haven't even allowed ourselves to fully process anything yet because we're just so confused. But the stress is certainly there below the surface and the positives really make it easier for us to ground ourselves.

As a brief update, I was able to get in touch with the cf center at UH. They are going to wait for me to get a release from his Ped and then they will set us up for another sweat chloride and a meeting. We briefly discussed genetic testing since he did not have the infant screen. They said it was up to us if we want to go through with the 72 hour fecal fat test. I am taking Cricket into his ped tomorrow for a weight check and rsv follow up so i'm going to see what he thinks we should do about that test. I hope he is receptive to the switch over to UH. He had already mentioned the center to us and spoke highly of it.

I do have a question. Our little guy's first elastase was 128 and the second, about a week later, was 146. Is it normal to see that type of variation so quickly and is there any benefit to a rise in the numbers?

 

[Justinsmama]

When we did our first, we waited about 5 weeks to do the next. We were told that if it was low due to a viral reason it could take a while to come back. The third one that we did was in July (first in early Jan, second in mid Feb). I would ask to have it retested after about 6 weeks just to be sure. Did you notice any strange smell to his diapers? For Justin the gas and smell of his pooh was a give away that something was wrong. Even now, when he has forgotten his enzymes, his gas as a terrible smell. Also, for us, before enzymes the food that was not pulled out in the intestines went right through his body and "burned" around his bottom. He would have red, raw skin and it would burn his whole lower end. Hope the information helps.

 

[Cricket's mom]

When we did our first, we waited about 5 weeks to do the next. We were told that if it was low due to a viral reason it could take a while to come back. The third one that we did was in July (first in early Jan, second in mid Feb). I would ask to have it retested after about 6 weeks just to be sure. Did you notice any strange smell to his diapers? For Justin the gas and smell of his pooh was a give away that something was wrong. Even now, when he has forgotten his enzymes, his gas as a terrible smell. Also, for us, before enzymes the food that was not pulled out in the intestines went right through his body and "burned" around his bottom. He would have red, raw skin and it would burn his whole lower end. Hope the information helps.

Yep, Terrible smelling. You can definitely see undigested food when he eats something with any substance. When he eats pureed foods it is either very thick, sticky and dark or more runny and yellow green and it does smell very bad for a baby, with the dark smelling worse. For the first months of his life, before baby food, he had unbelievable blow outs several times a day...every. single. day. That slowed down with the introduction of solids but it is exactly like you said, he burns. We never let him sit in a poopy diaper for long. He can get a bad contact rash very quickly.

View attachment 397This type of thing was extremely common and you can also get a sense of how slim and long he is. This was at 3 months.

Sorry for the expansive poop discussion. It's just a subject that's been a big part of our lives lately.

 

[lovemyboy507]

I hear you on the poop discussion! we often forgot that others did not want to discuss this! I an highly recommend ILEX for the contact rash where the skin has broken it aheres to the broken skin and then you layer it with vaseline thenjust wipe the vaseline away with any new poop - allows the skin to heal!

Crickets Mom - Fight to get into the CF clinic, this is a scary time for anyone so you need to be around experts, when our neonatologist told us that our son had CF he knew very little current info and he was nearly in tears, you can imagine what we thought! our CF clinic jumped in and got us transferred but one thing I have learnt is you have to be your own advocate as even this great clinic has some weaknesses

Good luck

 

[Cricket's mom]

I hear you on the poop discussion! we often forgot that others did not want to discuss this! I an highly recommend ILEX for the contact rash where the skin has broken it aheres to the broken skin and then you layer it with vaseline thenjust wipe the vaseline away with any new poop - allows the skin to heal!

Crickets Mom - Fight to get into the CF clinic, this is a scary time for anyone so you need to be around experts, when our neonatologist told us that our son had CF he knew very little current info and he was nearly in tears, you can imagine what we thought! our CF clinic jumped in and got us transferred but one thing I have learnt is you have to be your own advocate as even this great clinic has some weaknesses

Good luck

Thank you. I've never heard of ILEX. Maybe we can order some online. We've been using A&D and Mylanta for when his poop seems really acidic. It works ok but it's not ideal. i welcome anything that will make him more comfortable.

And thank you for the advice. I cannot imagine the level of fear that would fly through me if i had a dr. get emotional while discussing my baby's health. You must have been so shocked and scared. I'm sorry you had to feel that way. I hope your son is doing well.

I felt very relieved when i spoke to them this afternoon. I just feel like they have a broader base of experience to draw from and that might help them in ruling out, or in, different concerns. They also didn't make me feel foolish, which i somewhat expected, because of the sweat chloride results. Those tests were most likely good, considering the sample, but they still felt his symptoms warranted a closer look and that was a great relief. It's hard watching him get thinner and thinner and more and more tired as the months go by. He also has some unrelated health problems that we're trying to get to the bottom of so it's a relief that i can rest a bit easier knowing this aspect of his health will be in good hands.

 

[lovemyboy507]

ILEX is used alot in in old peoples homes - I get mine from an old fashioned pharmacy CVS couldnt help me at all! be careful its abit like glue I have stuck my fingers together and my sons butt cheeks so you have to let it dry (lots of fun holding legs in the air and hoping that now is not a time for an explosion) also never pick it off let it fall off as the skin heals - gross I know
once we got his creon right his poop is not normal but still a daily topic of conversation (we may stop when he is 18!)

yes it was hard - he was 2 month premature (a twin) we had just moved to the US and had no friends or family here so had to try and navigate the US medical system as well. His pancreas failed within days of being born so it was all a bit of a shock really but he is doing great (touch wood) he has never had pseudo and is hit non premie growth markers within 4 months, so yeah but I certainly dont have it licked yet so please - good days/ bad days we all have them and whatever emotion you are having you are entitled to it - I still lick his toes every morning to see if they really are salty and he still has CF, crazy as I have worked in rare diseases for over 15 years ! It sounds like he is in capable hands now so keep up your fight Mum's instinct is very important

Take care and update when you know

 

[Ratatosk]

We used a triple paste called critic-aid intended for adults with incontinence issues. Otherwise ds had a dreadful red monkey butt

 

[Justinsmama]

We are triple paste family. Keep it in every bathroom for little guy (9). When he misses enzymes - very rarely but I have found them in the bottom of snack bags (or not enough or has something that he is reactive/allergic to) his ***** swells up too so we use it for that.

 

[becabee]

Hi, Most CF parents and grandparents consider "poop" one of the main topics of conversation! I am a grandparent to an 8 yr old with a double mutation. His issues have always been mostly GI. However lately his lungs are getting involved. I urge you to push and push hard for more answers. My daughter fights with doctors to get treatments for him so don't ever be afraid to push them. As time goes on you will know how his CF "acts", play very close attention so that you can tell the doctors what is changing, etc. I hope your little one gets on a good treatment plan and get to that CF clinic ASAP and don't let anyone give you the run around

 

[Gibson75]

My advice is to keep fighting for what your gut is telling you. My story is very similar to Justinsmama. My boy was positive on the heal prick test and then negative on a sweat test (12). For the first 12 months we had so many Upper airway infections, sinus issues, ear infections, and your picture just brings back memories. my boy was seen by the CF team twice and on each occasion gave a negative sweat test. He was tested for everything else and nothing found. Finally he had to be put on crean as he started to get odemas in his feet from protein defficiency. We had a different child from that time on. No more tummy pains, direah or swollen feet. He is being treated by the CF team and will soon be going under to see what exactly is going on with his pancreas as they still don't feel it is CF. He will be having low swabs of his lungs as well for his cough. He has had his cough since birth and they cant accept it is all linked all because of the "gold standard" sweat test. I initiated a full DNA sequencing which came back with D508 and 1716G/A. The later mutation is in the CFTR gene but not known to be disease causing. It is linked to pancreatic issues. They also found nine sequence varients. The genmeticists told me that possibly with all linked together combined with his DNA structure could cause "mild" CF symptoms. The CF team are confused as "mild" is usually PS where my son (2) is PI, hence he is not text book and no diagnosis as yet. I am still fighting my battle, all the best for yours, the sooner he gets treatment the better and healthier he will be. goodluck!

 

[Printer]

Gibson:

Given my age and my current health condition, I am also considered to have a "mild case". Currently, I am 100% PI. If you like, I would be happy to have your DS's Doctor communicate with mine.

Bill

 

[Cricket's mom]

It's been a crazy day of running around but i had to get on here and share an update. We met with a Dr. at the CF Center. She took a look at his records, did an exam, and asked us a lot of questions. She confirmed that he's been recovering really well since his bout with the rsv last week. She ordered a re-do of the sweat test (it came back with similar numbers to the first pair that they did. That was an 8) She also did a throat swab and ordered a basic genetic panel. She was very comforting and very patient with us. She said she didn't feel that he has Cf but that she was very comfortable with the tests because it sets up a history, in case that becomes important later, and because it will allow the GI dr. to begin looking at other possibilities more quickly.

I asked her about the atypical form that might not show up on a sweat test and asked if it was likely that the genes involved with a form like that would be common ones. She said that the non-positive sweat tests, that show up for some people with CF, are typically from the more rare mutations. But, she said that it is less likely to see PI in those, more rare, genes. She explained that the pancreas issue is more directly related to the higher sweat test results. The way i understand what she was saying, the pancreas issues are more sensitive to the sodium chloride issues in the body and that the people who have more issues with the transport of these are the ones who tend to have saltier sweat. So basically, saltier skin more commonly = pancreatic insufficiency. I know that this seems to be counter to the experiences of so many people so i was very glad that she continued to order and collect for the testing and i was also grateful that we have a record with the center now. She mentioned the fact that he had passed meconium at birth, the fact that he is growing taller, the fact that his elastase tests were not in the critical range and the way he seemed to be recovering quickly from the two viruses and said that these things were causing her to lean toward him not having CF. She suggested we continue with the GI investigations and told me that i should contact her immediately if any of the symptoms that he has become more severe or worrisome. She also suggested that we consider autoimmune issues as a possible source of some of his trouble. She also reviewed all his previous labs for possible red flags in that area and found nothing suspicious.

I felt good about the talk today. I know that there is now a history with them, in case we every need to look into things further down the line, and i feel confident that Cricket's GI Dr can now focus on some other possibilities more fully.

I should be getting the swab results and the results of the gen testing within a couple of weeks.

I'm not certain what is causing his issues yet so i know we're not completely out of the woods for any possibility but it was comforting to know that such an experienced person was going over it all. I am so grateful to you all for your kindness and advice.

 

[Justinsmama]

Good luck in finding out the issues with Cricket. I know that with a mom like you that is on top of things, you will figure it out. We went 13 months trying to figure it out and, when the time was right, symptoms came to light that led to a diagnosis and treatment. I am sure this will happen for you too. Please stay in touch with this group if you need encouragement. There are others that are still trying to figure out what is going on with their children. The support you will find in dealing with the GI issues will help you along the way. Our prayers are with you and your son.

 

[Ratatosk]

CF or not, if your child has health issues, you need to keep pushing for answers. One thing DH reminded me of when we had issues with doctors not wanting to perform tests or telling me that DS' cough (bronchitis) as an infant was normal, is that we are the customers and we are PAYING for these appointments. We were also advised that when we request a specific test and the doctor says no, to indicate that you want that put in writing and added to your child's file. "Parents requested a scan to determine if there was an obstruction or culture to determine possible infection. Clinic refused because...."

 

[Cricket's mom]

Good luck in finding out the issues with Cricket. I know that with a mom like you that is on top of things, you will figure it out. We went 13 months trying to figure it out and, when the time was right, symptoms came to light that led to a diagnosis and treatment. I am sure this will happen for you too. Please stay in touch with this group if you need encouragement. There are others that are still trying to figure out what is going on with their children. The support you will find in dealing with the GI issues will help you along the way. Our prayers are with you and your son.

Thank you Justinsmama. I am so grateful. Your family, and all of our children, will be in my own thoughts and prayers. I'll be around to share what we discover. Maybe it might help someone else dealing with a similarly confusing set of issues.