Thank you so much, everyone, for your replies. <img src="i/expressions/face-icon-small-smile.gif" border="0"> Sorry in advance... this will be long! There is a lot to reply to~ for some reason I had not thought to check back on my thread here!
<b>Valerie</b>, my heart goes out to you in all you have dealt with in having a child with so many special needs. I can relate to that so well. You don't say anything about it here other than 'autism stuff' but I see that and adhd in your sig line and I just... KNOW... what it's like raising a medically complex child. It's exhausting and can be utterly frustrating when you have those challenges- a full plate of their own- and then they are always sick/have these other scary concerns and you cannot figure out WHY or what to do to help them.
I'm so glad you *finally* had a dr point you in the right direction so your son got the help he needed. I am just so sorry it took our kids so long to get their dx'es! I see from your sig he is now 9- in the time that have passed; how well has he done w/ his enzymes? Is he a good eater and has he gained weight? I am just curious if you don't mind sharing, as I wonder how Emily will fare and wonder how much ground she will gain (before gaining any weight, she was on the 5/10% of the growth curve in weight/height and bmi was 12.4.) She's had a good initial response- her energy level has already increased in the 2.5mo since she started on Creon and she's gained 1.5lbs. This is huge for her, esp since she had a little cold during this time.
<b>Chrissy</b>~ hearing from the adults is always so helpful too. Especially seeing ones that went so long without dx- and yet are doing ok now- is so encouraging. What a callous jerk that dr was to your mother!! How ARE you doing now?
<b>DD</b>~ I hope you get answers soon for Drew. I so understand the utter frustration you are feeling and feeling like one dr is just passing you off to the next w/o really caring about your child. Emily has never been constipated but milk allergy was one of the things they tested her for in trying to figure out her growth failure- along with celiac disease, allergy to wheat and some other foods, all that IGA/IGG stuff, and some labs that were looking for evidence of inflammation in the GI tract. I cannot remember details now; it was ordered by the GI.
Re. his weight; what kind of milk substitutes have you been giving your son and have they been, in fat & calories, the equivalent of whole milk? I know that is one thing that is important for kids under two and something to watch for if you've been giving him soy products all along. I really don't know anything about causes of severe constipation, it's never been an issue for us except for occasional times my kids have gone on fruit/veggie strikes... sorry. <img src="i/expressions/face-icon-small-sad.gif" border="0">
I hope YOUR labs come back soon, did you &/or your son get the Ambry CF Amplified test by any chance? That tests for the complete panel of known mutations (something like 1,500 of them- not the cheapo 23-most-common that many labs do) as well as deletions/duplications... everything. It seems like that is really what we need and gives 99% of people a definitive answer.
Unfortunately with Emily, it didn't turn out to be completely definitive- she came back with one deltaF508 and she falls into the 1% where they CANNOT identify the other mutation- but I hope they will someday... I mean, they have id'ed so many over just the last few yrs! According to her accredited pulmonary dr, her sweat test results (90 and 108) are the 'gold standard' when it comes to dx'ing her along with her good response to enzyme treatment. When I asked if there was any other reason that she would have responded so well to the enzymes... she was pretty clear on that.
<b>Saskiaatje</b>~ if you have your dr order the Ambry Amplified test (the one that tests for ALL known mutations/deletions/duplications- it's the most comprehensive one out there- it won't take months and months to be completed, fortunately- unless you are from another country, maybe. We had labs drawn on the east coast (the kit is sent out to CA) and our report was ready in 20 days; their website says turnaround time can be up to 28 days. Even some time added to that shouldn't be tooo bad.
Anyway- I too hope that she turns out to only be a carrier- or at worst, mild CF. I really don't know how to define mild. We are new to this still and I don't know that the drs can define it either in terms of any individual child... they can be hopeful and give you examples of other people but no one can see into the future either. That is what I hate so much about this!
<b>Valerie</b>, my heart goes out to you in all you have dealt with in having a child with so many special needs. I can relate to that so well. You don't say anything about it here other than 'autism stuff' but I see that and adhd in your sig line and I just... KNOW... what it's like raising a medically complex child. It's exhausting and can be utterly frustrating when you have those challenges- a full plate of their own- and then they are always sick/have these other scary concerns and you cannot figure out WHY or what to do to help them.
I'm so glad you *finally* had a dr point you in the right direction so your son got the help he needed. I am just so sorry it took our kids so long to get their dx'es! I see from your sig he is now 9- in the time that have passed; how well has he done w/ his enzymes? Is he a good eater and has he gained weight? I am just curious if you don't mind sharing, as I wonder how Emily will fare and wonder how much ground she will gain (before gaining any weight, she was on the 5/10% of the growth curve in weight/height and bmi was 12.4.) She's had a good initial response- her energy level has already increased in the 2.5mo since she started on Creon and she's gained 1.5lbs. This is huge for her, esp since she had a little cold during this time.
<b>Chrissy</b>~ hearing from the adults is always so helpful too. Especially seeing ones that went so long without dx- and yet are doing ok now- is so encouraging. What a callous jerk that dr was to your mother!! How ARE you doing now?
<b>DD</b>~ I hope you get answers soon for Drew. I so understand the utter frustration you are feeling and feeling like one dr is just passing you off to the next w/o really caring about your child. Emily has never been constipated but milk allergy was one of the things they tested her for in trying to figure out her growth failure- along with celiac disease, allergy to wheat and some other foods, all that IGA/IGG stuff, and some labs that were looking for evidence of inflammation in the GI tract. I cannot remember details now; it was ordered by the GI.
Re. his weight; what kind of milk substitutes have you been giving your son and have they been, in fat & calories, the equivalent of whole milk? I know that is one thing that is important for kids under two and something to watch for if you've been giving him soy products all along. I really don't know anything about causes of severe constipation, it's never been an issue for us except for occasional times my kids have gone on fruit/veggie strikes... sorry. <img src="i/expressions/face-icon-small-sad.gif" border="0">
I hope YOUR labs come back soon, did you &/or your son get the Ambry CF Amplified test by any chance? That tests for the complete panel of known mutations (something like 1,500 of them- not the cheapo 23-most-common that many labs do) as well as deletions/duplications... everything. It seems like that is really what we need and gives 99% of people a definitive answer.
Unfortunately with Emily, it didn't turn out to be completely definitive- she came back with one deltaF508 and she falls into the 1% where they CANNOT identify the other mutation- but I hope they will someday... I mean, they have id'ed so many over just the last few yrs! According to her accredited pulmonary dr, her sweat test results (90 and 108) are the 'gold standard' when it comes to dx'ing her along with her good response to enzyme treatment. When I asked if there was any other reason that she would have responded so well to the enzymes... she was pretty clear on that.
<b>Saskiaatje</b>~ if you have your dr order the Ambry Amplified test (the one that tests for ALL known mutations/deletions/duplications- it's the most comprehensive one out there- it won't take months and months to be completed, fortunately- unless you are from another country, maybe. We had labs drawn on the east coast (the kit is sent out to CA) and our report was ready in 20 days; their website says turnaround time can be up to 28 days. Even some time added to that shouldn't be tooo bad.
Anyway- I too hope that she turns out to only be a carrier- or at worst, mild CF. I really don't know how to define mild. We are new to this still and I don't know that the drs can define it either in terms of any individual child... they can be hopeful and give you examples of other people but no one can see into the future either. That is what I hate so much about this!