Finally, Hopkins next week

[auntcob]

jennifershope--Adam had a borderline sweat test (42 and 46). So CHOP ordered the full genetic sequencing. They us genzyme. His results came back with two mutations that the lab labeled as "benign" and CHOP told us that as far as they were concerned, he did not have CF. One of his mutations is a 5T variant. After posting here and doing some more research, we decided to get a second opinion and went to Children's National because my husband's cousin uses their CF clinic and gave it high praise. We spent a day there getting tests, PFT, lots of time with docs--they diagnosed him with "CF variant." We trusted that dx more than the CHOP one because DS was never seen by a doctor at CHOP; dx was made based on test results only.
<br />
<br />So, we are off to Hopkins to confirm a CF diagnosis and get a second opinion on treatment. I have been in touch with Dr. Harris from Cincinnati Children's and based on Adam's story, he is also interested in seeing him about the possibility of SDS.
<br />
<br />So, in a nutshell, that is the story...............

 

[tenag]

you are indeed going to be surprised with how aggressive johns hopkins treats cf, my little man has been going for ten years now and we too love mogayzel!

 

[tenag]

you are indeed going to be surprised with how aggressive johns hopkins treats cf, my little man has been going for ten years now and we too love mogayzel!

 

[tenag]

you are indeed going to be surprised with how aggressive johns hopkins treats cf, my little man has been going for ten years now and we too love mogayzel!

 

[JennifersHope]

How old is your child, if he is above 11 then can do the Nasal Potential Difference test on him, That is how they were able to tell with me, and I had a few positive sweat tests and two genes, and my Nasal PD was negative...

Some genes are non disease causing.

 

[JennifersHope]

How old is your child, if he is above 11 then can do the Nasal Potential Difference test on him, That is how they were able to tell with me, and I had a few positive sweat tests and two genes, and my Nasal PD was negative...

Some genes are non disease causing.

 

[JennifersHope]

How old is your child, if he is above 11 then can do the Nasal Potential Difference test on him, That is how they were able to tell with me, and I had a few positive sweat tests and two genes, and my Nasal PD was negative...
<br />
<br />Some genes are non disease causing.

 

[auntcob]

Adam is 15. Maybe they will suggest an NPD. He has symptoms; is definitely PI. FEV1 in low 80s but also has a hx of mild asthma. He has not cultured anything yet. We are considering other conditions that would cause PI--hopkins has actually done some research on CF and SDS and have found folks who have SDS misdiagnosed as CF. My understanding is the over 90% of males with a 5T allele also have CABVD but I do not know if confirming this is ever used as part of a dx.

Unfortunately, we have to postpone his appt by a couple weeks. DH want to come and he just found out he has to be in London that week. The good news--I am joining him there for a long weekend--never been there and we so rarely get a break from the kids!

 

[auntcob]

Adam is 15. Maybe they will suggest an NPD. He has symptoms; is definitely PI. FEV1 in low 80s but also has a hx of mild asthma. He has not cultured anything yet. We are considering other conditions that would cause PI--hopkins has actually done some research on CF and SDS and have found folks who have SDS misdiagnosed as CF. My understanding is the over 90% of males with a 5T allele also have CABVD but I do not know if confirming this is ever used as part of a dx.

Unfortunately, we have to postpone his appt by a couple weeks. DH want to come and he just found out he has to be in London that week. The good news--I am joining him there for a long weekend--never been there and we so rarely get a break from the kids!

 

[auntcob]

Adam is 15. Maybe they will suggest an NPD. He has symptoms; is definitely PI. FEV1 in low 80s but also has a hx of mild asthma. He has not cultured anything yet. We are considering other conditions that would cause PI--hopkins has actually done some research on CF and SDS and have found folks who have SDS misdiagnosed as CF. My understanding is the over 90% of males with a 5T allele also have CABVD but I do not know if confirming this is ever used as part of a dx.
<br />
<br />Unfortunately, we have to postpone his appt by a couple weeks. DH want to come and he just found out he has to be in London that week. The good news--I am joining him there for a long weekend--never been there and we so rarely get a break from the kids!
<br />
<br />

 

[hmw]

<div class="FTQUOTE"><begin quote>My understanding is the over 90% of males with a 5T allele also have CABVD but I do not know if confirming this is ever used as part of a dx.</end quote></div>
I don't think it's an 'ideal' way to dx a teenager due to potential repercussions it could have, but yes, this has been part of the diagnostic process for some males w/ suspected cf since it would be incredibly unlikely to have another reason for this condition along with so many symptoms pointing to cf. I'd want to follow up on all other available routes first (NPD, genetic testing for SDS, CF-specific treatment to see if this brings about improvement in his pft's, etc (mild asthma should not impact his pft's to this point. The goal for children is much closer to 100%.)

Wishing the very best. Hopkins is known for their interest in rare mutations and should be more proactive in their tx than what you've experienced to date as well.

 

[hmw]

<div class="FTQUOTE"><begin quote>My understanding is the over 90% of males with a 5T allele also have CABVD but I do not know if confirming this is ever used as part of a dx.</end quote>
I don't think it's an 'ideal' way to dx a teenager due to potential repercussions it could have, but yes, this has been part of the diagnostic process for some males w/ suspected cf since it would be incredibly unlikely to have another reason for this condition along with so many symptoms pointing to cf. I'd want to follow up on all other available routes first (NPD, genetic testing for SDS, CF-specific treatment to see if this brings about improvement in his pft's, etc (mild asthma should not impact his pft's to this point. The goal for children is much closer to 100%.)

Wishing the very best. Hopkins is known for their interest in rare mutations and should be more proactive in their tx than what you've experienced to date as well.

 

[hmw]

<div class="FTQUOTE"><begin quote>My understanding is the over 90% of males with a 5T allele also have CABVD but I do not know if confirming this is ever used as part of a dx.</end quote>
<br />I don't think it's an 'ideal' way to dx a teenager due to potential repercussions it could have, but yes, this has been part of the diagnostic process for some males w/ suspected cf since it would be incredibly unlikely to have another reason for this condition along with so many symptoms pointing to cf. I'd want to follow up on all other available routes first (NPD, genetic testing for SDS, CF-specific treatment to see if this brings about improvement in his pft's, etc (mild asthma should not impact his pft's to this point. The goal for children is much closer to 100%.)
<br />
<br />Wishing the very best. Hopkins is known for their interest in rare mutations and should be more proactive in their tx than what you've experienced to date as well.