should we do more testing?

A

Alyssa

New member
My kids have always seen Dr. Ron Gibson at Children's in Seattle. He is a wonderful guy. Our PCP just gave us a referral to see anyone at Children's CF and Chest Clinic and Children's handled the rest. I would highly recommend you doing the same thing -- primary care docs do not have the experience in dealing with CF that the docs at Children's do. Jump through whatever insurance hoops you have to in order to get all your CF care from Children's. If you have some strange insurance loop hole that says the blood draw has to be done through your regular doc or something, make sure that doctor and Children's are communicating about what test is being done and specifically what lab is handling it.

So you are also seeing a GI doc in Seattle too? If it turns out that your child does have CF and you start seeing the pulmonary docs at Children's for that, you *might want to consider transferring the GI care to Children's as well. I just liked the convenience of it all -- the chest doctors know the GI doctors well, communication is easier, the computer system (medical records) are at each doctor's fingertips -- even the same physical file follows the patient around the building no matter what the child is being seen for (for some reason that makes me feel better - knowing every doctor we see there, gets the full picture)

We love Dr. Gibson, but I'm sure everyone there is great -- we had originally been told to schedule some appointments with other doctors over the years, just so we would get to know everyone, but we have always stuck with him. Only two times when we really needed to get in did we have to see someone else (and of course it was fine) So I always felt like it was our fault for not trying out different doctors within the Chest Clinic, until I spoke with a couple other parents who made the comment that they felt it was the doctors who become possessive (attached) to their patients :) I have noticed that they do a very good job of communicating with each other about all of the patients -- they have regular meeting to discuss EVERY patient they are currently seeing so every doctor has "heard" about you at one point or another anyway :)

I could (and probably already have) go on and on about the excellent care we have received from Children's.... so if you would like to know any more, please feel free to ask.

How far from Seattle are you?
 
M

mom23

New member
Our GI doc is at Childrens in Seattle, as we have been hospitalized there a few times. We are in Eastern Wash, but like Childrens in Seattle much better than Spokane. The CF doc in Spokane is fairly certain with having the neg sweat tests that he doesn't have it, but we want to make sure. Our ped thinks that there may be a chance of one of the more rare mutations, so that is why I am wanting to persue more. I am curious now if I should get the GI appt, and then try to get him into an endocrinologist due to some feeding issues, plus try to get into Dr Gibson all at once, instead of travelling back and forth. We definately don't mind the longer drive to receive top of the notch medical care! I have been doing lots of reading on all of this, and appreciate all of the input that you can give us as well!!
 
M

mom23

New member
Our GI doc is at Childrens in Seattle, as we have been hospitalized there a few times. We are in Eastern Wash, but like Childrens in Seattle much better than Spokane. The CF doc in Spokane is fairly certain with having the neg sweat tests that he doesn't have it, but we want to make sure. Our ped thinks that there may be a chance of one of the more rare mutations, so that is why I am wanting to persue more. I am curious now if I should get the GI appt, and then try to get him into an endocrinologist due to some feeding issues, plus try to get into Dr Gibson all at once, instead of travelling back and forth. We definately don't mind the longer drive to receive top of the notch medical care! I have been doing lots of reading on all of this, and appreciate all of the input that you can give us as well!!
 
M

mom23

New member
Our GI doc is at Childrens in Seattle, as we have been hospitalized there a few times. We are in Eastern Wash, but like Childrens in Seattle much better than Spokane. The CF doc in Spokane is fairly certain with having the neg sweat tests that he doesn't have it, but we want to make sure. Our ped thinks that there may be a chance of one of the more rare mutations, so that is why I am wanting to persue more. I am curious now if I should get the GI appt, and then try to get him into an endocrinologist due to some feeding issues, plus try to get into Dr Gibson all at once, instead of travelling back and forth. We definately don't mind the longer drive to receive top of the notch medical care! I have been doing lots of reading on all of this, and appreciate all of the input that you can give us as well!!
 
A

Alyssa

New member
That's excellent that your GI doc is already at Children's. Yes, I would imagine one trip for all visits would be best. You could also spend the night in a hotel and make the appointments only one day apart if you can't get them all on the same day -- it's going to be a very long day as it is already, so making it two days of appointments might work well.

I know the chest clinic days are Tuesdays for the CF docs. We can sometimes get into Dr. Gibson on Thursdays (his overflow day) but those appointments fill up really fast as there aren't many of them and are always 2-3 months out.

When and where was the sweat test done? Do you remember the number? How old was your son? Not that the answers change anything, I still think you should pursue full genetic testing, I'm just curious.

Keep us posted!
 
A

Alyssa

New member
That's excellent that your GI doc is already at Children's. Yes, I would imagine one trip for all visits would be best. You could also spend the night in a hotel and make the appointments only one day apart if you can't get them all on the same day -- it's going to be a very long day as it is already, so making it two days of appointments might work well.

I know the chest clinic days are Tuesdays for the CF docs. We can sometimes get into Dr. Gibson on Thursdays (his overflow day) but those appointments fill up really fast as there aren't many of them and are always 2-3 months out.

When and where was the sweat test done? Do you remember the number? How old was your son? Not that the answers change anything, I still think you should pursue full genetic testing, I'm just curious.

Keep us posted!
 
A

Alyssa

New member
That's excellent that your GI doc is already at Children's. Yes, I would imagine one trip for all visits would be best. You could also spend the night in a hotel and make the appointments only one day apart if you can't get them all on the same day -- it's going to be a very long day as it is already, so making it two days of appointments might work well.

I know the chest clinic days are Tuesdays for the CF docs. We can sometimes get into Dr. Gibson on Thursdays (his overflow day) but those appointments fill up really fast as there aren't many of them and are always 2-3 months out.

When and where was the sweat test done? Do you remember the number? How old was your son? Not that the answers change anything, I still think you should pursue full genetic testing, I'm just curious.

Keep us posted!
 
M

mom23

New member
Alyssa, his first sweat test was done at our local hospital, done on 1-5-06. That result was a 38. He was 9 months old at that test. The second sweat test was done at Sacred Heart Childrens Hospital and was done 3-30-06 when he was 12 months old. The result was a 12. We had a genetic consult at that time also, and the dr "did not feel that genetic testing was indicated at this point in time". The mutation testing was for 32 mutations, including the 25 recommended that detects approx 90% of CF mutations. I knwo that we are grasping at straws, but someone has got to figure out what is going on. My son does have a cousin with CF, so we know what the CF signs are. We are starting him back on his enzymes, after being off for a month to see what happened, so I am interested to see how he responds to being back on them. Is there any way to talk privately or something, I would love to be able to call you if possible and 'pick your brain' some more. Thanks a bunch!!
 
M

mom23

New member
Alyssa, his first sweat test was done at our local hospital, done on 1-5-06. That result was a 38. He was 9 months old at that test. The second sweat test was done at Sacred Heart Childrens Hospital and was done 3-30-06 when he was 12 months old. The result was a 12. We had a genetic consult at that time also, and the dr "did not feel that genetic testing was indicated at this point in time". The mutation testing was for 32 mutations, including the 25 recommended that detects approx 90% of CF mutations. I knwo that we are grasping at straws, but someone has got to figure out what is going on. My son does have a cousin with CF, so we know what the CF signs are. We are starting him back on his enzymes, after being off for a month to see what happened, so I am interested to see how he responds to being back on them. Is there any way to talk privately or something, I would love to be able to call you if possible and 'pick your brain' some more. Thanks a bunch!!
 
M

mom23

New member
Alyssa, his first sweat test was done at our local hospital, done on 1-5-06. That result was a 38. He was 9 months old at that test. The second sweat test was done at Sacred Heart Childrens Hospital and was done 3-30-06 when he was 12 months old. The result was a 12. We had a genetic consult at that time also, and the dr "did not feel that genetic testing was indicated at this point in time". The mutation testing was for 32 mutations, including the 25 recommended that detects approx 90% of CF mutations. I knwo that we are grasping at straws, but someone has got to figure out what is going on. My son does have a cousin with CF, so we know what the CF signs are. We are starting him back on his enzymes, after being off for a month to see what happened, so I am interested to see how he responds to being back on them. Is there any way to talk privately or something, I would love to be able to call you if possible and 'pick your brain' some more. Thanks a bunch!!
 
S

sdelorenzo

Guest
mom23,
Since you have a niece or a nephew with cf, you should be able to figure out if your son also carries one of the same genes. I would suggest you ask your sibling what your niece or nephew's genetic make-up is. A genetic counselor should help you determine if the genes are both apart of the 32 genes that your son was already tested for. If they are apart of the rountine test then your son would almost definitely not have cf. The only way that your son would have a completely different cf genetic make-up than his cousin and still have cf would be that either you or your husband has cf and passed on a different gene. If your nephew or niece has one or more rare genes than it would be a good idea to do the full panel for gene testing. Hope I didn't confuse you!

Now that you mention that your son has a cousin with cf and as a result there is a good possibility (25% chance) that your son at least carries one cf gene, then I would strongly suggest you get more testing done on your son since he shows symptoms of cf.
Sharon, mom of Sophia, 5 and Jack, 3 both with cf, aunt to Joseph, 9 with cf
 
S

sdelorenzo

Guest
mom23,
Since you have a niece or a nephew with cf, you should be able to figure out if your son also carries one of the same genes. I would suggest you ask your sibling what your niece or nephew's genetic make-up is. A genetic counselor should help you determine if the genes are both apart of the 32 genes that your son was already tested for. If they are apart of the rountine test then your son would almost definitely not have cf. The only way that your son would have a completely different cf genetic make-up than his cousin and still have cf would be that either you or your husband has cf and passed on a different gene. If your nephew or niece has one or more rare genes than it would be a good idea to do the full panel for gene testing. Hope I didn't confuse you!

Now that you mention that your son has a cousin with cf and as a result there is a good possibility (25% chance) that your son at least carries one cf gene, then I would strongly suggest you get more testing done on your son since he shows symptoms of cf.
Sharon, mom of Sophia, 5 and Jack, 3 both with cf, aunt to Joseph, 9 with cf
 
S

sdelorenzo

Guest
mom23,
Since you have a niece or a nephew with cf, you should be able to figure out if your son also carries one of the same genes. I would suggest you ask your sibling what your niece or nephew's genetic make-up is. A genetic counselor should help you determine if the genes are both apart of the 32 genes that your son was already tested for. If they are apart of the rountine test then your son would almost definitely not have cf. The only way that your son would have a completely different cf genetic make-up than his cousin and still have cf would be that either you or your husband has cf and passed on a different gene. If your nephew or niece has one or more rare genes than it would be a good idea to do the full panel for gene testing. Hope I didn't confuse you!

Now that you mention that your son has a cousin with cf and as a result there is a good possibility (25% chance) that your son at least carries one cf gene, then I would strongly suggest you get more testing done on your son since he shows symptoms of cf.
Sharon, mom of Sophia, 5 and Jack, 3 both with cf, aunt to Joseph, 9 with cf
 
A

Alyssa

New member
Have you used the private message feature on this site?

I'll try and send you one -- if for some reason you don't get it, you can always email me at:

alyssa2550@yahoo.com
 
A

Alyssa

New member
Have you used the private message feature on this site?

I'll try and send you one -- if for some reason you don't get it, you can always email me at:

alyssa2550@yahoo.com
 
A

Alyssa

New member
Have you used the private message feature on this site?

I'll try and send you one -- if for some reason you don't get it, you can always email me at:

alyssa2550@yahoo.com
 
C

cheerfull

New member
My baby girl tested pos. before she was born, could the test be wrong even tho she need the ezymes? why is her tummy so desended?
 
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