Symptoms question

[Luke06]

Hi. I hope all of your past experiences can help guide me through
some questions I have about trying to get my son the correct
medical help and diagnosis. Thank you for your time in reading our
story. Here it is:<br>
<br>
-No known history of CF in the family.<br>
- Our son was born on Feb. 24, 2006<br>
- At 51 and 1/2 hours after birth our son had his first bowel
movement and it was what the hospital labeled a 'large mucous
plug', but he did pass it on his own - they recommended  a
sweat test be done after 2 mos. of age<br>
- We had the sweat test done at 3 1/2 mos. of age (we waited so
long based on our ped's advice). We had the test done at an
accredited CF center. His numbers were 4 point something and 5
point something - so not even close.<br>
- We have had him on every kind of formula known - we have ended up
with Neocate.<br>
- He still vomits, he is diagnosed with acid reflux (based on PH
probe results - He sees a Ped. GI Spec - he has been checked for
structural abnormalities in the bowel, esophagus, & stomach and
he is fine).<br>
- We have tried 5 different. kinds of anti reflux meds and he is
unresponsive to all.<br>
- His bowel movements are very painful 95% of the time and are
always pure liquid or very sticky tar like in texture, not color
(he is now 6 mos old). This past mos. he has gone three times where
he does not have a bowel movement for 3-4 days then a sticky lump
like thing comes out of him associated with more of the liquid
textured stool (sorry if that's TMI)<br>
- He has dropped from 50% to 25% for weight and for weight for
length ratio he is now 10%.<br>
- We have currently stopped breast feeding and all meds in an
attempt to see if it's allergies (Neocate formula is protein free
so it is made for infants with allergies)<br>
- He has always sounded congested and has a 'rattle' sound to his
breathing a lot of the times (one very minor cold to date).<br>
- Yesterday he made these gasping/gulping sounds and immediately
afterwards he would scream out in pain - this went on from 6 AM to
2 AM and was every 10 min or so unless he was sleeping. <br>
- He will only drink half of the daily required amount of food -
never wants more than a few ounces at a time.<br>
- We assumed that we would see an improvement now that he's only
getting his elemental formula (we used to accompany it with the
breast feeding), but he seems to be in some discomfort and still
vomits and is very congested.<br>
<br>
Any insight is greatly appreciated. Also we have United Health Care
and we do not think it will cover the cost of the Ambry Genetics
Test - does any one know the out of pocket cost - I read on the
Ambry  web site that it was appx. 285.00 but I read on
this forum that it is in the neighborhood of 3000.00. Again, any
advice is sincerely appreciated. Thank you.<br>
Sincerely,<br>
Charmaine<br>
<br>
<br>

 

[anonymous]

I am sorry for all your son is going through and not knowing exactly what is wrong and how to treat him makes things so much worse. I have United Health Care and it did pay, with no fuss at all, the fee for the Ambry Cf mutation test. I hope you are able to have him tested as soon as possible so that you can have some peace in this. Just as a side note, my sweat tests were perfectly normal (I had 3) but the genetic test picked up the two cf genes. Good luck to you and your son.

 

[debs2girls]

Charmaine, I am sorry you and your son are going though all of this. From reading your post, it sounds like you are telling my story. Unfortunately, I cant offer much hope because my daughter wasnt diagnosed until last Nov. @ 5 years of age.
The only difference in our stories is Cheyenne had to have her Neocate so thick with infant cereal that she wouldnt be able to aspirate it into her lungs. She had pnuemonia 14 times by the age of 3.
I hope you find something soon. I will keep you all in my prayers.

 

[NoExcuses]

.

 

[damiensmom]

The Genetic Blood Test. A must my son had the sweat test a false negative they called it and every other test phoenix childrens hospital had for C.F being as we were sent there after delivery for suspected C.F and we were sent home a month later being told he did not have C.F well 2 weeks later my pcp called and said he did indeed have C.F determind by genetic blood panel. there are no false positives only false negatives. you might want to try keeping baby at a 45degree angel at all times. dont lay him flat after eating and maybe less food more often. This helped my son greatly.I know it sucks in the worst way to see your baby hurting.Tell your doc you insist on a referal for ambry test. god bless you and yours

 

[damiensmom]

The Genetic Blood Test. A must my son had the sweat test a false negative they called it and every other test phoenix childrens hospital had for C.F being as we were sent there after delivery for suspected C.F and we were sent home a month later being told he did not have C.F well 2 weeks later my pcp called and said he did indeed have C.F determind by genetic blood panel. there are no false positives only false negatives. you might want to try keeping baby at a 45degree angel at all times. dont lay him flat after eating and maybe less food more often. This helped my son greatly.I know it sucks in the worst way to see your baby hurting.Tell your doc you insist on a referal for ambry test. god bless you and yours

 

[damiensmom]

The Genetic Blood Test. A must my son had the sweat test a false negative they called it and every other test phoenix childrens hospital had for C.F being as we were sent there after delivery for suspected C.F and we were sent home a month later being told he did not have C.F well 2 weeks later my pcp called and said he did indeed have C.F determind by genetic blood panel. there are no false positives only false negatives. you might want to try keeping baby at a 45degree angel at all times. dont lay him flat after eating and maybe less food more often. This helped my son greatly.I know it sucks in the worst way to see your baby hurting.Tell your doc you insist on a referal for ambry test. god bless you and yours

 

[damiensmom]

oops how did that happen? only meant to post once. yikes

 

[anonymous]

It does sound like he needs genetic testing done. You could start with the routine test that looks for the most common 30 genes or so and then go on from there if needed.

My daughter (who has cf) had a lot of problems with eating that your son does. She ended up on a feeding tube at 3 months old due to her refusal to eat and vomiting. Three months later it was determined through an endoscopy that she had a probable milk allergy. We switched her formula to Nutrimagen and a few weeks after that she started to finish her milk and the vomiting stopped. I have heard that kids with cf tend to have more problems with milk allergies than the general population.

My nephew was diagnosed with cf at the age of 4 a few weeks after my daughter. His main symptom was constipation. His weight had dropped but wasn't alarming. No one thought to test for cf since there was no family history. Now I know this is silly since around 80% of the people diagnosed with cf do not have family history.

Hope you get some answers soon!
Sharon, mom of Sophia, 5 and Jack, 3 both with cf, aunt to Joseph, 9 with cf

 

[anonymous]

nobody has said whether his skin is salty you only have to lick his skin to find this out a cf person always has salty skin there is no one day he has and one day he has not and the normal common gene is f 508 and some other mutations but this is the most common ones but a blood test will determine this.

 

[anonymous]

My kid's skin is not always salty. Just occassionally. I usually only notice it when they have been outside and sweating.
Sharon, mom of Sophia, 5 and Jack, 3 both with cf

 

[tammykrumrey]

Charmaine,
I would absolutely get the genetic testing done. And I would go for the longest test that they will agree to do. My second daughters test came back as only a carrier, and then the sweat test was done and it was positive. They then did the longer test, and the second mutation indeed popped up.
And not all CF mutations cause salty skin, which you are probably already aware of.
I have two daughters, and a nephew, who all have CF. Each of the three children had at least some of the problems that you have listed. None of them had all of them, but each had at least some of them. You need to get answers. Even if CF is not the diagnosis. It is heartbreaking to see our babies go thru pain. I wish you and your family the best.

 

[julie]

I agree with all others, GET THE GENETIC TEST. If you have a problem with coverage with Ambry genetics, consider Quest diagnostics. Both offfer a comprable test but Quest has been aroudn for decades and has contracts with many more different ins. companies than Ambry does.

also, 2 months is pretty young for a sweat test. Of course, some babies have a positive sweat test at 2 weeks, others have a negative one until 6mos or a year.

I would push for a genetic test, and extended panel genetic test. Also, based on your income, look in your state to see if your child would qualify for medicaid OR if there is something called a "spenddown" on medicaid in your state. Basically how this works is IF you have to pay out of pocket for this test, you can take the bill into the local medicaid office and show them that you owe this much. (it's better if you take in ALL unpaid medical bills to show you owe more, owing more is bette). They then figure out your family size and income, and tell you that you must have X amount in medical expenses. If you meet that X amount, you will recieve coveage for 6 months, 3 months of backdated coverage (which will cover the genetic testing) and 3 months of future coverage.

Another option is to contact Ambry and Quest. I cannot imagine that they don't have "patient assistance" programs to help with stuff like this when Ins. won't cover the test. Also, contact your local CF chapter, they can get ahold of the lawyers working for the CF foundation for you and get you some assistance on this matter.

Do whatever it takes....

Best of luck and keep us posted!

 

[Ratatosk]

DS was given a sweat test at an accreditted CF facility and it came back a normal 32. Most likely because he was only a couple weeks old and teeny tiny babies don't produce much sweat. Fortunately another doctor had already ordered up a genetic blood test and we found out he had homozygous delta f508. And today, if I kiss his forehead -- he always tastes salty.

 

[Emily65Roses]

I just wanted to say one thing that I don't think anyone else mentioned. No CF family history often means <u>absolutely nothing</u>. Many many of us here are the only CFers in our families. It is hereditary, yes, but it's very easy to have the gene in the family for years, and just get lucky with your chances, and have no CFers.

My mother was one of 6, my dad was one of 2. I have a sister. I have more than a dozen cousins (and a similarly high number of aunts and uncles)... also, about half a dozen of my cousins have had kids by now. I am still the first and only CFer in my entire family.

 

[Ratatosk]

No family history here either and both sides of the families have extensive family histories in which to look back at for any young deaths. My father-in-law is one of 15 children -- no cfers amongst DH's numerous cousins, aunts and uncles. Nothing on my MIL's side of the family either. Histories going back to the early 1800s and the only possible CFer could've been my uncle, who was stillborn.

 

[anonymous]

i cannot beleive how much different the testing is for the cf test in the usa, here in the uk we have a test done which is done for all the babies that are born in the whole of the country it a simple blood test that is done when they are four weeks old and, cystic fibrosis is one that they test for, and it is the most simplest of tests, they take blood from the heel and put onto a swab and sent off for tests my son was picked up via this test at four weeks old and he was six weeks old when he had the sweat test which confirmed for sure that he was cystic fibrosis and then they told me which gene he carries and the big question is which parent carries the mutayted gene and yes as we all know there dose not have to be any cf in the family it is just two people coming together who carry thge gene unless you know before you have kids if you are a carrier

 

[anonymous]

I also conquer with everyone about continuing to pursue futher testing. However, just to help with the reflux symptoms, I encourage you to check out www.infantrefluxdisease.com . It is a fabulous website with tons of info re: the disorder and tons on info on treatments and such. Also, if you click on "message boards" on the left, there is an awesome support group of parents with kids just like yours. It was my lifesaver when my daughter had reflux as an infant (she did indeed outgrow it at nine months however). Good luck!