UPDATE from APPT: 8 yo with pancreatic insufficiency, fighting for genetic sequencing

Julie7

New member
13 Sept DC Hosp!: 8 yo with pancreatic insufficiency,

My son has always been in the bottom 10% across the board for height, weight, etc. Now he has fallen off the growth chart in height, barely on for weight and ok for bmi. The last few months he has suffered abdominal pain with eating and diarrhea (up to 10+/day). February we took him to GI specialist who finally agreed (after much debate) to do colonscopy and endoscopy with a pancreatic stimulation test.
Nothing to speak of on the scopes (no celiac, no IBD that they found) but the pancreatic stim test showed 4 out of 5 pancreatic enzymes were abnormally low and he was diagnosed with pancreatic insufficiency with subsequent malabsorption. He now takes Creon 12,000 one capsule with every meal and 1/2 capsule at snacktime. He has low vitamin D and ferritin (likely due to the malabsorption).
So, GI has no idea why he has PI. I urged for CF testing and others to rule out causes of PI. He agreed to sweat test and pulmonary referral. We are going to a CF accredited center in Delaware. Sweat test was 20 on one arm and insufficient quantity on the other. Fecal pancreatic elastase >500. When we saw pulmonary CF dr yesterday, he said he guarantees my son does not have CF based on the sweat test, fecal elastase and his bmi. He agreed that 90% of PI kids have CF but that kids who present at this age are usually pancreatic sufficient, no insufficient as my son is presenting.
So, dr did not want to do full genetic sequencing but he agreed. I asked for the Ambry amplied genetic sequence, but on the the lab slip it said Quest CF full sequence. Can you tell me if this is similar? He also did throat/cough culture, chest xray and ordered pulmonary function tests (even though he said he "sounds" fine).
Also, the reason he didn't want to do the sequence is that he said it is likely something will show up on the mutations and then what do we do if he has copies of mutations (but maybe not 2 copies of same) and he was worried about my reaction to those findings. Well, I would like to know that, if he has any mutations, wouldn't you??
Yes, this is an accredited CF center but quite frankly, I'm a bit skeptical. If we had not completed the pancreatic stim test, based on his fecal elastase alone, we would not have determined that he is in fact pancreatic insufficient. The Creon works wonders, we have gone from daily complaints of stomach pain and lots of diarrhea to few of both. He has gained 2-3 pounds in 3 weeks and 1/2 inch in height.
I've been a lurker on these boards since finding out he is pancreatic insufficient and see that there are lots of smart and kind people here. Please give me your two cents.
I suppose it is possible he has idiopathic PI, PI due to some virus/bacteria, unfound celiac/IBD that damaged pancreas or other genetic conditions. He is getting an ultrasound of the pancreas this am to see if they can visualize the pancreas and any noticable problems.
The CF dr said if he did show CF on the genetic sequencing that he would be a 1.2%er. Well, I said, "that's the story of my life, always the 1%er..."
 

Printer

Active member
8 yo with pancreatic insufficiency, fighting for genetic sequencing

A Full CF Sequencing is a FULL CF SEQUENCING no matter where it is done. Mine was done at a CF Research Lab In Cambridge MA. Quest will be fine.

You are doing everything perfectly and I applaud you.

Be patient and wait for the lab results.

Bill
 

Justinsmom

New member
8 yo with pancreatic insufficiency, fighting for genetic sequencing

Hi Julie,

Your situation sounds so familiar. My son was 6 when this all started for him. We have never been that low in height, more like 10-25% and 10-15% for weight (his brother is off the charts for height tall.) A year and a half ago we started with the same symptoms of belly pain and up to 8-9 loose stools. He has eosinophilic esophagitis so we have treated with GI since he was a baby. Last January they did a fecal elastase test that came back 148 (moderate insufficiency) 6 weeks latter it was 70 and by July it was 25. Stopped testing because it was too low to detect. He has been on ferris sulfate 220 since 2 years old to treat iron deficiency and has montly blood draws. At one point his ferritin was 1.8 (several times around 4) and his hemoglobin was 6. Low in D also. When we finally got placed on Creon (he has a severe pork allergy) it changed his world. He had dropped below 3% in his BMI (the CF clinic had never seen a child so malnurished). Just before his 7th birthday they put him on Creon (August), he weighed 41 lbs. He is also on Creon 12,000. He takes 17 pills a day, 4 with meals and 2 with snacks. If your son is PI, did a CF center determine his dosage? If not, it sounds like it could be low. For us, this dose has allowed him to gain 7 pounds and grow several inches since last August.

Did you have a sweat test done? For us it was negative, and gave us a false sense of hope. We were also tested for Schwachman Diamond because of slightly low platelet and white blood counts in the past. Our genetics showed one mutation. Our CF Clinic at the time decided to follow him "as if" he was CF, but only treating pulmon side for asthma. Starting last September something changed for him. His PFT's began to drop in the 25/75 (small airway) and when he was sick, they would drop across the board. We believe it came from allowing his BMI to drop so low. His normal was about 20% to less than 3%.

Feb of this year he was hospitalized for what we thought was pancreatic issues (pain in tummy and back) but CT of pancreas showed an infiltrate in the left lower lung. He had pneumonia. Our local ER doc (who used to work with CF doc) begged us to go for a second opinion to Johns Hopkins. This changed our lives. He was diagnosed 4 days latter on 2/16 of this year. He has had pneumonia 3 times since (the last being 2 different found on bronchoscopy and mucus plugging.) We are headed to the primarty care as soon as they open this morning for a possible 4th. My point is please push to get answers. We did not think it was "as serious" until he started with the lung issues. We though if he did have CF, it was mild. Things can change very quickly and it is best to have a good, proactive team. He is now on a vest (which seems to be doing a lot.)

I hope you the best.
 

Julie7

New member
8 yo with pancreatic insufficiency, fighting for genetic sequencing

Update: firstly, thank you both for replying. I really appreciate you taking the time to read and respond.
From the pulmonilogist work up, sputum cultures and X-ray came back today.
Culture positive for H influenza
X-ray showed hyperinflation of lungs
Dr prescribed antibiotic for bacteria but seemed to disagree with radiologist findings. I forgot to ask the score but will get that later. He has PFTs scheduled for this Friday so that should clear up the difference of opinions.
I asked pulmonilogist if these two pieces of info change his mind at all and he stands behind his belief my son is not CF. I hope he is right and these are just some wacky coincidences.
We did the bloodwork, full CF sequence last week, another five weeks to wait...
 

Julie7

New member
8 yo with pancreatic insufficiency, fighting for genetic sequencing

Update, first CF panel of 32 mutations came back negative, remaining results will take about 6 weeks dr said. The whole genetics part of this is confusing, dr says if it comes back positive for 1 or 2 rare mutations, he does not have CF. I don't get that, aren't all of the mutations rare? Some are just more rare?
Anyway, I'm already gathering my son's records in preparation for second opinion. Regardless of CF or not, we need to find out the cause of his pancreatic insufficiency.
 

JustDucky

New member
8 yo with pancreatic insufficiency, fighting for genetic sequencing

??? Odd that a doctor would say that even if 2 mutations are found no CF, yes most CF mutations are rare, some very rare....glad you are going for a second opinion! There are people on this board who are diagnosed with CF even with 1 mutation, but because they present with clinical findings suggestive of CF (xray changes, PI , growing CF bugs, etc) then CF is diagnosed. Keep looking and follow your guy feelings even if it takes several opinions. Jenn 40 wCF
 

Printer

Active member
8 yo with pancreatic insufficiency, fighting for genetic sequencing

Julie:

In every Medical School graduating class there is a Doctor who finished last in the class. In every speciality there is a Best Doctor and a Worse Doctor. Your Doctor would scare the hell out of me.

Bill
 

Julie7

New member
8 yo with pancreatic insufficiency, fighting for genetic sequencing

Ok, here is an update. We are on week 4 of awaiting the CF full sequencing and this is the correspondence I had with his pulm dr. I asked via email whether his CF full sequencing results were available yet? He replied no, but that he would rather not send me the results and instead wait to discuss these in person at our follow up appointment, in 3 weeks time.
***dr response to me below
I would strongly recommend waiting until the office visit in two weeks to discuss any results. There can be a lot of misinformation available on the internet that can be confusing and anxiety-provoking. At the visit, I would be happy to answer any and all questions that you may have. I understand your eagerness to get results immediately, but my experience with these tests and their potentially confusing results strengthens my recommendation to wait until the office visit to discuss the results.
***
Ok, I understand dr does not want me flooding him with questions prior to our visit, but, isn't my right to see these results as soon as they are available? And, I'm a thinker, so it would be nice to review results over a few days, come up with my questions, and make the most of our follow up appointment.
Also, I feel like he is sort of making a statement that if 2 "rarer" mutations show up, that my son does not have CF.
Can you help me here - am I crazy, is this bizarro world?
I would like the results, hope there are no findings from this sequencing, but would like to know if there are and get my son the best treatment available.
Feel free to set me straight if you think I am totally clueless and should "check" myself.
 

Justinsmom

New member
8 yo with pancreatic insufficiency, fighting for genetic sequencing

Hi,

I am not one to ususally "push" the doctors too hard, for fear of "loosing" what we have. I would, however, demand the results. We were in the "followed as if" area because of 1 mutation and poly T, and negative sweat test. We wasted over a year while my son's health declined. I wish I would have pushed more earlier.

If you are not happy, you could find another CF Center that has more experience with your son's situation. When we switched, our new doctor knew about Justin's combination (she thinks she knows where his 2nd mutation is - are not tested for him) because she has another patient with same situation and same known mutation. I know you feel helpless, and may be afraid to "loose" what you have, but hang in there for your son's sake.

My prayers are with you.
 

Printer

Active member
8 yo with pancreatic insufficiency, fighting for genetic sequencing

Julie:

I understand that the hospital is an approved CF Center. Is the Doctor a CF Specialist? He is saying things that don't make any sence to me but I'm only a CF Patient.

Bill
 

Julie7

New member
8 yo with pancreatic insufficiency, fighting for genetic sequencing

Yes, this is a CF accredited center and this dr works in the CF clinic, but he is a Pulmonologist. While my son's chest X-ray showed minor abnormalities, his PFTs were "good" but I haven't received a copy of the results yet. So, my feeling is that bc this dr sees my son as otherwise healthy, especially from a lung function standpoint, he said to me that kids who have CF and present at this late age (8) do not look like my son, ie. pancreatic insufficient and healthy lung function. Therefore, based on this and negative sweat test, he couldn't possibly have CF. That is what this dr said. And he said even if gene sequence comes back with two mutations, he says that wouldn't change his opinion.
And yes, we have second opinion appt already booked with Boston's Children's hospital. Right now, that appr is just with GI. Pending results of gene sequencing, if positive, I will request we add Pulmonologist appt to that second opinion appt.
I feel that this dr sees mostly vanilla patients and wouldn't be able to recognize a mint chocolate chip patient bc he only sees about 15 CF patients overall. This hospital sees about 100 CF patients per year. That averages out to about 15-20 patients per dr. This is in contrast to much larger hospital like Boston, that sees over 500 CF patients per year and much greater likelihood of seeing and recognizing mint chocolate chip <img src="i/expressions/face-icon-small-smile.gif" border="0">
That's my analogy and opinion.
 

Printer

Active member
8 yo with pancreatic insufficiency, fighting for genetic sequencing

Julie:

I go to Childrens in Boston, they are great there. which GI Doctor are you seeing?

Bill
 

Julie7

New member
8 yo with pancreatic insufficiency, fighting for genetic sequencing

Victor Fox is who the second opinion team recommended. I don't know of I should ask for someone specifically or accept the recommendation. Thanks Bill.
 

Printer

Active member
8 yo with pancreatic insufficiency, fighting for genetic sequencing

Julie:

I have an appointment tomorrow (Thursday). Let me ask some questions and I get back to you later Thursday.

Bill
 

Beccamom

New member
8 yo with pancreatic insufficiency, fighting for genetic sequencing

If your genetic testing was done by quest, then go to any quest lab and you can fill out the paperwork to get the records released striaght to you as a the parent of the patient. My daughter is 12 and it has been 16 months in CF diagnostic limbo, but I would never trust a doctor that witholds test results. My daughter is treated for CF and doing incredible.

One of my daughters genetics went to Quest and then I thought it was odd, but the 2nd daughter tested results went to Ambry. Both had full testing including deletions and duplications.

Here are two websites to look up any genetic mutations you find out about and what they may mean for your child. Keep in mind no two people with CF even family members with the same genetic mutations will necessary progress the same way.

http://www.cftr2.org/

http://www.genet.sickkids.on.ca/app

You are doing a great job as a mom. Keep advocating for your child and educating yourself.
 

Julie7

New member
8 yo with pancreatic insufficiency, fighting for genetic sequencing

Beccamom,
Thanks so much for that. I used that Quest Gazelle app for myself but I couldn't figure out how to use it for my son. Yes, I will do that, thanks!
Thanks everyone. This has really been frustrating. My current GI doc is just like here take zenpep 15 and see you in 3 months. He doesn't know why he is PI and says maybe it was just a virus or something. I don't like that explanation. So my current GI doc doesn't seem to know primary cause of PI, and my current Pulmo dr doesn't think he should be seeing him. So I am really hopeful that this second opinion process via Boston Children's reveals some new insights, whatever they may be, to get us on the right path for treatment.
 

Printer

Active member
8 yo with pancreatic insufficiency, fighting for genetic sequencing

Julie7:

I am sending a Personal Message to you

Bill
 

Justinsmom

New member
8 yo with pancreatic insufficiency, fighting for genetic sequencing

Julie,

My sone was 6 when he became PI. We were told the same thing, just short of turning 7. Our Pulm did not believe, eventhough he was following "as" because he had no lung involvement. This was August. By January they were adding daily flovent to his asthma med's and agreed that he did have "asthma". Between January and now he has had 4 lung infections, mucus plugs removed and is now on Simbicourt 160 daily. My point is things can change very quickly. We still are not sure how much of Justin's issues are asthma and how much is CF. Finding a doctor that is open to "cases other than textbook" is very important. Not sure if you are close to Johns Hopkins, but our doctor (Dr. Zeitlin) knew his mutation, was familiar that it can cause a negative sweat test, and has been very proactive in treating him. I am so thankful that ourlocal ER docs pushed us for a second opinion when he had his first pneumonia. Adding his vest has done wonders. It is helping to keep his lungs from being junky. We didn't even know they were junky until we got the vest and it all gets loosened up. I hope you get answers that you are comfortable with. For me, I could not accept PI with no explanation. Justin's fecal elastase level went down to 25 before it was taken seriously and his BMI dropped below 3%. Things can change quickly.

Your family will be in our prayers.
 

Julie7

New member
8 yo with pancreatic insufficiency, fighting for genetic sequencing

Update with CF results
heterozygous for 5T polymorphism in intron 9, adjacent to 12 TG repeats
2 copies of p.met470Val (formerly (M470V)
Pulmonologist says this is negative for CF
Done by Quest with a disclaimer that this assay cannot rule out possibility of the heterozygous presence of a large deletion, or detect intronic mutations affecting mRNA splicing, leading to decreased CFTR activity. Does anyone know what test could detect that?
Any thoughts? I have sent this up to Boston for another opinion, interpretation. When on the phone with pulmo dr, he said, the test showed nothing, but then when I got the results electronically, that description was there.
 

2005CFmom

Super Moderator
8 yo with pancreatic insufficiency, fighting for genetic sequencing

<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Julie7</b></i> this dr sees my son as otherwise healthy, especially from a lung function standpoint, he said to me that kids who have CF and present at this late age (8) do not look like my son, ie. pancreatic insufficient and healthy lung function.<img src=""> That's my analogy and opinion.</end quote>

My daughter was diagnosed with CF at 8, pancreatic insufficient, healthy lung function and healthy overall. Her diagnoisis was simple because she has two DF508 mutataions and a positive sweat test. Don't let them rule out CF because he seems two healthy. CF is quite a complicated disease and just because she is healthy now (PFT 116%) doesn't mean it won't change in an instant. Preventative treatment could possible hold back disease progress.
 
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