21 Month Old

[Super Man's Mommy]

My Son is 21 months old. He has been sick since he 4weeks old. Reoccuring Sinus infections, ear infections and bronchitis. I was told he had Laryngopharyngeal Reflux (LPR) and this was the reason for all of his sinus and stomach issues. They put him on 30mgs of Prevacid twice a day, (that is an adult dosage) and switched his formula multiple times. He had his first Sinus Surgery at 6 months old. The ENT told me that would fix everything, HAHA! 4 sinus surgerys total, and our right ear tube replaced three times for infections, he has had the turbulants burned in his nose and the two balloon surgerys. New Born Screenings were negative for CF! His stool smells horrible, and often looks like it seperates from a fatty/mucus substance. Before turning a year old he was always in the 90% percentile for his age. Currently his weight is at 59% while his height is at 33%. (I know that isn't to bad) His finger nails and toe nails are brittle, they do not grow evenly and often peel back from the side breaking off. He refuses to eat for long periods of time, but when he does decide to eat he will consume more then my 5yr old. His fluid intake is excessive, close to a gallon if not more a day. He has been seen by three allergist, two immuologist, ent, pulmonologist, GI specialist, and now and infectious disease doctor who has placed a PICC line for the next 28 days. He has been diagnosed with Chronic Sinus infections, Chronic Bronchitis and has had pnuemonia five times. We went for his Sweat test. They attempted to collect from his right arm and left leg because the PICC is in his left arm. They did not collect anything from his leg, but had enough collected from his right arm to come up with a 44. They also did blood testing that same day and said the results will take 7 to 10 days.
I have been told over and over again, that nothing is wrong with my baby and he will grow out of this by the time he is 5yrs old. It makes no sense to me, because all he has to do is be around someone with a cold and he will end up with Bronchitis within 48hours. If antibiotics are not started right away then he usualy ends up with pnuemonia. I am at a loss! His pulmonologist is out of town until Wednesday and I will be receiving a call but I don't even know what questions to ask.
Has anyone had anything like this happen? Did your child end up with mutations? Any help is appreciated!

 

[JENNYC]

Hand in there girl...your little one really is super man!!! Please post if you can help shed some light or if you went through something similiar. She has experienced more in 1 week than I have in many years!! The doctors and nurses are really giving her poor baby the blues

 

[Ratatosk]

DS was born with a bowel obstruction caused by meconium illeus, so doctors pretty much figured he had CF. However, he had a normal 32 for a sweat test, which was confusing. Blood testing showed he had CF. Without digiestive enzymes his stools are loose, shiney (greasy) -- his skin is very salty tasting. Have they ever done a culture (throat or sputum) to see if he's growing any common cf bugs such as steno malophilia or pseudumonas or done a fecal elastase test to see if he's pancreatic insufficient?

 

[Printer]

Newborn CF screenings test for less then 100 mutations, there are nearly 2000 known mutations, any 2 will cause CF. Disregard the newborn test. The sweat test that is given at your local hospital is not the same test that is administered at a CF Center.

Your son needs to be seen at a APPROVED CF CLINIC by a CF SPECIALIST. Do this ASAP.

Bill

 

[Super Man's Mommy]

I called today to inquire about the blood test taken this past Thursday. I asked how many mutations they where testing for.... The nurse had no clue and called the lab. She called me back and said the test only checked 39mutations. I am beyond angry.... What is the point in even testing if that is all your checking for!!!!

 

[Aboveallislove]

Dear Mom,
I'm so sorry. Been thinking of and praying for you all day. I can't even imagine what you're going through with all that with your little one in such a short time. As Bill said, make DS is being treated at a CF Center by a CF doctor. If so, I'd ask this:
1) Given his sweat tests and his clinical presentations, have you diagnosed CF? If not, why not? Ask to retake giving salt ahead of time to make sure enough sweat. (DS they had use put salt in formula when 2 weeks old to make sure enough sweat?)
2) Have blood sent out for full 1000+ screening if nothing comes back with 39.
3) Ask for fecal elsaticity test to see if pancreatic insufficient.
4) Ask for throat culture to see if culturing anything.
5) I think given history, I'd ask to treat as CF until you know otherwise, doing breathing treatments (Xopenex--ask for that or generic Leverbuterol, not Albuterol which causes jitterines), chest therapy (percussions or vest), acid reflux meds, enzymes (if pancreatic insufficient). Until knowing its CF I wouldn't push for other things like Pulmozyme or hyper-tonic saline, but I think those minimum things could help.

Please follow-up if the above doesn't make sense.
Hugs and prayers,
Love

 

[Super Man's Mommy]

Ratatosk...
In October his Pulmonologist did a Ciliary Biopsy... That is the only Test other then the nose cultures and sinus CT's...

 

[Super Man's Mommy]

Dear Mom,
I'm so sorry. Been thinking of and praying for you all day. I can't even imagine what you're going through with all that with your little one in such a short time. As Bill said, make DS is being treated at a CF Center by a CF doctor. If so, I'd ask this:
1) Given his sweat tests and his clinical presentations, have you diagnosed CF? If not, why not? Ask to retake giving salt ahead of time to make sure enough sweat. (DS they had use put salt in formula when 2 weeks old to make sure enough sweat?)
2) Have blood sent out for full 1000+ screening if nothing comes back with 39.
3) Ask for fecal elsaticity test to see if pancreatic insufficient.
4) Ask for throat culture to see if culturing anything.
5) I think given history, I'd ask to treat as CF until you know otherwise, doing breathing treatments (Xopenex--ask for that or generic Leverbuterol, not Albuterol which causes jitterines), chest therapy (percussions or vest), acid reflux meds, enzymes (if pancreatic insufficient). Until knowing its CF I wouldn't push for other things like Pulmozyme or hyper-tonic saline, but I think those minimum things could help.

Please follow-up if the above doesn't make sense.
Hugs and prayers,
Love

Thank you, for your response... I will be speaking with the Pulmonologist on Wednesday when he returns to the office. I am not able to schedule an appointment until the 26th but they will have the first set of test results back before then. I am praying I hear something by Friday. Now, the Immuologist had told me that the Pulmonologist was a very good Pediactric CF doctor. Is there something specific I need to be looking for?

 

[JENNYC]

If you go to the home tab at the top of the page it will direct you to another page ... In the left hand corner will be find a cf center... You can click on that to see if the hospital or your doctor is listed. I know TX Children's is and also Scott and White in Temple... If your doctor is not listed I think I would find out if you would be covered to seek additional medical care at one of those facilities.

 

[Super Man's Mommy]

Jenny, I tried that the other night and again this morning. It tells me there is an error on that page, try again later....

 

[JENNYC]

It is an accreditted center which is even more baffling as to why he would only run a 39 panel....I wonder if the nurse misunderstood? Because that is just crazy!! I really hope she misunderstood.

 

[Aboveallislove]

Actually, it might make sense to start with 39 because they can get results back quicker and since more typical genes, better chance of a hit. I think she said 7-10 days for results and aren't others waiting 3 months for full screen? If no hits then definitely need full screen, but wondering if the idea is to get a quick answer before doing larger screen???

 

[JENNYC]

You're right!! Never thought of it that way! I guess I am just thinking of Abby and how her first genetic screening said that she was a carrier...thankfully her sweat test confirmed CF or we might have been in Limbo too Thanks!!! Hope all is well on your end!!! March 1st is coming up!!! That means dr appt and 1 year no hospital all on the same day...hoping he doesn't blow that off

 

[Gibson75]

HI,
I am going through something very similar here in Australia. My boy turned one a couple of days ago. He has had a cough since birth and is increasingly getting worse. He coughs non stop after sleeping. They keep telling me its because of his swollen adenoids. He is due to be operated on in a week for removal of adenoids and tubes put in. (had previous ear infections). He has chronic sinus issues (runny nose, sometimes stained with blood) and as soon as he gets an infection it goes thick green. He is currently on his 10th course of antibiotics due to countless URI. He has had chronic diareah since about 4months with mucus through it. He had samples early on tested but came back normal. I am still breast feeding but the more formula he has the worse his poos are and stinkier they become. He is my fourth child and is very different. We have tried lactose/dairy free, meds for reflux, antihistomines but nothing helps. The most time he has gone without a bug is 5 weeks over the summer time. He cultured Hemaphila influenza (appoligies for spelling) early and they blamed that on a lot of his issues but he has gotten a lot worse since then. He gets awful tummy pains as well. For the past 6 months he has got blocked tear ducts which block with muck. He screened positive at birth with DF508 and a high IRT level. He has since tested negative twice on sweat test (at CF centre). I have CF in my family (neice) and I was a known carrier. After a lot of pushing from me he was tested for the first 32 mutations which came back negative. CF centre is saying it is unlikely he has CF even though his condition is getting worse. They refused to pay for the full DNA sequence so I have decided to pay myself and still waiting for the results. He has physio daily and is on hypertonic saline neb when he is really congested. I feel that all the doctors run off the sweat test results and until DNA proves otherwise they don't want to hear it. I know there are a few members on this site who have CF and have tested negative on a sweat test. I understand some of the rarer mutations don't seem to effect the salt levels.
My eldest daughter (10) is a carrier and has absolutely no symptoms at all. All I can say is hang in there and keep making yourself heard. I have sat with genetisists who i'm sure have looked at me like i'm crazy but they are not the ones up with my baby at all hours dealing with tummy pains and coughing fits. Good luck and keep us posted.
Gibson75

 

[Super Man's Mommy]

Something so important shouldn't take so long... This is horrible!

 

[JENNYC]

Gibson75...Way to go mom!!!! Sure sounds like you have something to be concerned about! Does his tummy swell at all? You might wait for Aboveallislove to reply cause she is more familiar with the tummy issues and maybe she can help you to ease his pain until you can get your hands on some enzymes.

And you are right it shouldn't take so long.....the full sequencing can take months.

 

[Aboveallislove]

I'm sooooo sorry for all you are facing. If he isn't on enzymes, that is likely the main culprit for the tummy issues. Have you tried a really low-fat diet to see if that helps (which would also indicate it is the lack of enzymes?) Our son's biggest issue is the CF constipation--I call it that b/c it ain't normal constipation but it isn't DIOS, and Miralax and milk of magneisa keep it in check, but also has bad reflux when getting built up. But I really think until enzymes are determined to be necessary (stool test or blood test), that it will be hard to control tummy pains (other than low-fat foods). Also, any chance he has a bacterial overgrowth?? Maybe add some cultural and possible talk re Flagyl (nasty but if a bacterial overgrowth very helpful). I'd probably say not to push for flagyl until you know it isn't an enzyme issue.
Hugs and prayers,
Love

 

[Super Man's Mommy]

Jenny C and I were discussing body percentile earlier. I made a quick call to the pediatrician and this is what I have found.... I didn't want to edit my first post because I wanted to make sure you seen this... Any input is appreciated...

12Months
weight 24 pounds 55.53%
height 31 inches 84.97%
Head 92.67%
BMI 16.92%

15Months
weight 26pounds 70.39%
height 30.5 inches 30.71%
Head 79.7%
BMI 19.65%

18months
weight 27.6 pounds 70.1%
height 33 inches 71.25%
head 79.87%
BMI 17.67%


21months
weight 28 pounds 62%
height 33inches 34%

he will be 22months old in two weeks so I didnt know if I should use the 21 month calculator or the 22 month so here it is for the 22 month also

22months
weight 28 pounds 58%
height 33 inches 26%

 

[Gibson75]

Hi Jenny,

Yes his tummy has justed started to swell in the past four weeks and is very noticeable. he has just started with a home family day care lady and she has also commented on his big belly. He is due back at his peadiatrician on the 12th of this month so I will be bringing it up definately and I am going to try and push for another stool sample to be tested.

Gibson75

 

[JENNYC]

Super Man's Mommy let me know when you hear from the doctor

Gibson75 I wish I could show you a pic of Abby before we found out....she looked like a little pregnant girl...it looked so painful (but Abby has the highest pain tolerance I've EVER seen!! If she cries or complains you better find out the what's wrong fast...anyways she never complained about her stomach at all and like I said you should see the pics there is no way it didn't hurt)!! Come to find out it was because her body was not processing her food so it was creating lots of gas, and going straight to her bowels. After getting on enzymes within 2 days we saw a different child!! She quit eating 5 times what she should her stomach went back to normal and her "cold like symptoms" went away. I pray that they can get you and my friend some answers very soon!! It's awful being in limbo Especially when your child is the one suffering.