my 6 day old daughter was just diagnosed

[2k2wranglerx]

<P><div class="FTQUOTE"><begin quote><i>Originally posted by: <b>mamaScarlett</b></i> Your daughter is gorgeous, and remember she is the same beautiful little person today, after a diagnosis of cf, that she was the day she was born. Cf is serious to be sure, but it is highly treatable with new medications coming out all the time. The best treatment is early treatment. The best life is treating your illness each day full on, but going about your life just as everyone else does, planning and living despite the challenges that arise. I was diagnosed at 1 yr old, I'm 29 now. I just gave birth to my 2nd child and living life fully, while facing Cf head on each day. Speaking from experience, I suggest you learn all the facts about what to do every day for your little girl to keep her healthy, read the positive stories, learn the tips of success from healthy Cfers and doctors and families, and ignore the negative stories.</end quote> </P>
<P></P>
<P>Thanks so much for the helpful words of advice! it's hearing stories from people like you living with CF that really give us a lot of hope. My wife is 28 and i'm 30 so knowing people are living normal healthy lives and are the same age as us has been really comforting. </P>
<P></P>
<P></P>
<P></P>
<P>Thanks so much to everyone for the words of encouragement! and thanks for the compliments on my baby girl!</P>

 

[Mommafirst]

<br>


 <span class="Apple-style-span" style="line-height: normal;"><div class="FTQUOTE"><begin quote>


 


Pennsylvania does genetic testing at birth.  She had a blood sample drawn and we recieved the results at her 1 week appointment. 


 


it was done by perker lemer genetics in pa.  it says that immunoreactive trypsinogen = 398.5ng/ml blood


 


then below that DNA analysis has detected 2 copies (homozygous) of the delta F508 mutation.  Gene analysis for the CF delta F508 mutation was performed using polymerase chain reaction and melting point analysis to detect the mutant delta f508 and wild type forms of the gene. 


 


that might mean more to you than it does to me...  but my friend and neighbor who's a general practitioner thought that it looked like she has it, but the sweat test will confirm it.  His advice was to accept that she had it and if the sweat test showed otherwise than great.  but to be prepared that she most likely has some form of CF...


 


Are we reading that all wrong?


 


thanks guys!


 


we are having a sweat test done weds to confirm that she does have CF.  </end quote></div>

<div><br></div><div>No you aren't reading it wrong.   Being a double delta F508 confirms CF.   Since it is the most common mutation, it is the one often checked when the IRT is high -- and that is pretty high.    Sometimes a patient will have just one delta F508  and have a high IRT so they have to send out the blood for a more intensive analysis as there are over 1600 other mutations that could pair with the DF508, but in your case, you have an answer already.   </div>

 

[Mommafirst]

<br>


<span class="Apple-style-span" style="line-height: normal;"><div class="FTQUOTE"><begin quote>





Pennsylvania does genetic testing at birth. She had a blood sample drawn and we recieved the results at her 1 week appointment.





it was done by perker lemer genetics in pa. it says that immunoreactive trypsinogen = 398.5ng/ml blood





then below that DNA analysis has detected 2 copies (homozygous) of the delta F508 mutation. Gene analysis for the CF delta F508 mutation was performed using polymerase chain reaction and melting point analysis to detect the mutant delta f508 and wild type forms of the gene.





that might mean more to you than it does to me... but my friend and neighbor who's a general practitioner thought that it looked like she has it, but the sweat test will confirm it. His advice was to accept that she had it and if the sweat test showed otherwise than great. but to be prepared that she most likely has some form of CF...





Are we reading that all wrong?





thanks guys!





we are having a sweat test done weds to confirm that she does have CF. </end quote>

<br>No you aren't reading it wrong. Being a double delta F508 confirms CF. Since it is the most common mutation, it is the one often checked when the IRT is high -- and that is pretty high. Sometimes a patient will have just one delta F508 and have a high IRT so they have to send out the blood for a more intensive analysis as there are over 1600 other mutations that could pair with the DF508, but in your case, you have an answer already.

 

[Mommafirst]

<br><p>


<p><p><span class="Apple-style-span" style="line-height: normal;"><div class="FTQUOTE"><begin quote>


<p>


Pennsylvania does genetic testing at birth. She had a blood sample drawn and we recieved the results at her 1 week appointment. <p>


<p>


it was done by perker lemer genetics in pa. it says that immunoreactive trypsinogen = 398.5ng/ml blood<p>


<p>


then below that DNA analysis has detected 2 copies (homozygous) of the delta F508 mutation. Gene analysis for the CF delta F508 mutation was performed using polymerase chain reaction and melting point analysis to detect the mutant delta f508 and wild type forms of the gene. <p>


<p>


that might mean more to you than it does to me... but my friend and neighbor who's a general practitioner thought that it looked like she has it, but the sweat test will confirm it. His advice was to accept that she had it and if the sweat test showed otherwise than great. but to be prepared that she most likely has some form of CF...<p>


<p>


Are we reading that all wrong?<p>


<p>


thanks guys!<p>


<p>


we are having a sweat test done weds to confirm that she does have CF. <p></end quote>

<br>No you aren't reading it wrong. Being a double delta F508 confirms CF. Since it is the most common mutation, it is the one often checked when the IRT is high -- and that is pretty high. Sometimes a patient will have just one delta F508 and have a high IRT so they have to send out the blood for a more intensive analysis as there are over 1600 other mutations that could pair with the DF508, but in your case, you have an answer already.

 

[sdelorenzo]

Yes, it does sound like you do have plenty of information to confirm her diagnosis. My first daughter was diagnosed with CF at a month old. It is a huge shock. Your daughter will be an enormous blessing! I would get in contact with your closet CF center so they can help you understand more about CF.
Sharon, mom of Sophia, 9 and Jack, 7 both with CF, Grant, 2 and Paige, 8 months both without cf

 

[sdelorenzo]

Yes, it does sound like you do have plenty of information to confirm her diagnosis. My first daughter was diagnosed with CF at a month old. It is a huge shock. Your daughter will be an enormous blessing! I would get in contact with your closet CF center so they can help you understand more about CF.
Sharon, mom of Sophia, 9 and Jack, 7 both with CF, Grant, 2 and Paige, 8 months both without cf

 

[sdelorenzo]

Yes, it does sound like you do have plenty of information to confirm her diagnosis. My first daughter was diagnosed with CF at a month old. It is a huge shock. Your daughter will be an enormous blessing! I would get in contact with your closet CF center so they can help you understand more about CF.
<br />Sharon, mom of Sophia, 9 and Jack, 7 both with CF, Grant, 2 and Paige, 8 months both without cf

 

[edan]

I am so sorry to hear you are going through this. We found out just one year ago basically to the day that my daughter had cf as well. It is really a shocker. A parent's love for their child is so overwhelmingly strong and you just want your child to lead the healthiest, happiest life possible.

Today, I can tell you is that my husband, daughter and I are now in a fairly peaceful state. It took awhile to get over the shock and to understand what/how we can best care for her to keep her healthy. Besides this site, which is the best I have found for support, I also linked up with a local CF parent support group. We meet once a month and do things socially as well. They have been a real focal point of education and inspiration for me. Can you see if you have something similar where you live? I am sure your clinic or local CFF chapter can point you in the right direction.

I wish you all the love and support you can get in this journey your family will take. Love each other and take time for yourselves as a couple too. Your marriage must remain strong for the sake of your entire family.

Cheers,

Edan.

 

[edan]

I am so sorry to hear you are going through this. We found out just one year ago basically to the day that my daughter had cf as well. It is really a shocker. A parent's love for their child is so overwhelmingly strong and you just want your child to lead the healthiest, happiest life possible.

Today, I can tell you is that my husband, daughter and I are now in a fairly peaceful state. It took awhile to get over the shock and to understand what/how we can best care for her to keep her healthy. Besides this site, which is the best I have found for support, I also linked up with a local CF parent support group. We meet once a month and do things socially as well. They have been a real focal point of education and inspiration for me. Can you see if you have something similar where you live? I am sure your clinic or local CFF chapter can point you in the right direction.

I wish you all the love and support you can get in this journey your family will take. Love each other and take time for yourselves as a couple too. Your marriage must remain strong for the sake of your entire family.

Cheers,

Edan.

 

[edan]

I am so sorry to hear you are going through this. We found out just one year ago basically to the day that my daughter had cf as well. It is really a shocker. A parent's love for their child is so overwhelmingly strong and you just want your child to lead the healthiest, happiest life possible.
<br />
<br />Today, I can tell you is that my husband, daughter and I are now in a fairly peaceful state. It took awhile to get over the shock and to understand what/how we can best care for her to keep her healthy. Besides this site, which is the best I have found for support, I also linked up with a local CF parent support group. We meet once a month and do things socially as well. They have been a real focal point of education and inspiration for me. Can you see if you have something similar where you live? I am sure your clinic or local CFF chapter can point you in the right direction.
<br />
<br />I wish you all the love and support you can get in this journey your family will take. Love each other and take time for yourselves as a couple too. Your marriage must remain strong for the sake of your entire family.
<br />
<br />Cheers,
<br />
<br />Edan.

 

[Ratatosk]

I'm so sorry. DS has those mutations. He's 8 years old and a very busy boy. Please try to enjoy NORMAL baby milestones and steps. I sometimes got so overwhelmed with the diagnosis that I'd forget that DS was still a normal little boy, normal baby who just needed some extra things to keep him happy and healthy. Take it one day/step at a time and eventually you'll get into a routine. She is such a cutie!

 

[Ratatosk]

I'm so sorry. DS has those mutations. He's 8 years old and a very busy boy. Please try to enjoy NORMAL baby milestones and steps. I sometimes got so overwhelmed with the diagnosis that I'd forget that DS was still a normal little boy, normal baby who just needed some extra things to keep him happy and healthy. Take it one day/step at a time and eventually you'll get into a routine. She is such a cutie!

 

[Ratatosk]

I'm so sorry. DS has those mutations. He's 8 years old and a very busy boy. Please try to enjoy NORMAL baby milestones and steps. I sometimes got so overwhelmed with the diagnosis that I'd forget that DS was still a normal little boy, normal baby who just needed some extra things to keep him happy and healthy. Take it one day/step at a time and eventually you'll get into a routine. She is such a cutie!

 

[welshwitch]

Hi,

2k2wranglerx, I'd love to talk w. you about my experience w. CF anytime--shoot me a PM if ya want. I'm 31 and living a healthy and overall NORMAL life w. CF. The hardest thing is dealing with the mental side of it. Staying POSITIVE and ENGAGING with it is my secret! (Oh yah and surfing and running--makes my lungs happy <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[welshwitch]

Hi,

2k2wranglerx, I'd love to talk w. you about my experience w. CF anytime--shoot me a PM if ya want. I'm 31 and living a healthy and overall NORMAL life w. CF. The hardest thing is dealing with the mental side of it. Staying POSITIVE and ENGAGING with it is my secret! (Oh yah and surfing and running--makes my lungs happy <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[welshwitch]

Hi,
<br />
<br />2k2wranglerx, I'd love to talk w. you about my experience w. CF anytime--shoot me a PM if ya want. I'm 31 and living a healthy and overall NORMAL life w. CF. The hardest thing is dealing with the mental side of it. Staying POSITIVE and ENGAGING with it is my secret! (Oh yah and surfing and running--makes my lungs happy <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[2k2wranglerx]

<P><div class="FTQUOTE"><begin quote><i>Originally posted by: <b>welshwitch</b></i> Hi, 2k2wranglerx, I'd love to talk w. you about my experience w. CF anytime--shoot me a PM if ya want. I'm 31 and living a healthy and overall NORMAL life w. CF. The hardest thing is dealing with the mental side of it. Staying POSITIVE and ENGAGING with it is my secret! (Oh yah and surfing and running--makes my lungs happy <img src=""></end quote></div> </P>
<P> </P>
<P>I will take you up on that sometime!  really!  </P>
<P> </P>
<P>my wife and i live a pretty active lifestyle, unfortunately for weather we are in pittsburgh, PA (go steelers!) where the weather is often not as forgiving as other areas.  But fortunately i've read we have one of the best CF centers at children's hospital.   </P>
<P> </P>
<P>We bike (last year i did the ride from Pittsburgh pa to washington DC), kayak, occasionally indoor rock climb, ski (just did vail, CO this year), waterski, etc.  </P>
<P> </P>
<P>A few questions for you though.  How does altitutde affect you?  Any issues being around dust (my wife horseback rides regularly and was wondering if amelia will be able to as well).  </P>
<P> </P>
<P>Thank you so much for sharing your experience!  I'm sure I'll be contacting you at some point to pick your brain!</P>

 

[2k2wranglerx]

<P><div class="FTQUOTE"><begin quote><i>Originally posted by: <b>welshwitch</b></i> Hi, 2k2wranglerx, I'd love to talk w. you about my experience w. CF anytime--shoot me a PM if ya want. I'm 31 and living a healthy and overall NORMAL life w. CF. The hardest thing is dealing with the mental side of it. Staying POSITIVE and ENGAGING with it is my secret! (Oh yah and surfing and running--makes my lungs happy <img src=""></end quote> </P>
<P></P>
<P>I will take you up on that sometime! really! </P>
<P></P>
<P>my wife and i live a pretty active lifestyle, unfortunately for weatherwe are in pittsburgh, PA (go steelers!)where theweather is often not asforgiving as other areas. But fortunately i've readwe have one of the best CF centers at children's hospital. </P>
<P></P>
<P>We bike (last year i did the ride from Pittsburgh pa to washington DC), kayak, occasionally indoor rock climb, ski (just did vail, CO this year), waterski, etc. </P>
<P></P>
<P>A few questions for you though. How does altitutde affect you? Any issues being around dust (my wife horseback rides regularly and was wondering if amelia will be able to as well). </P>
<P></P>
<P>Thank you so much for sharing your experience! I'm sureI'll be contacting you at some point to pick your brain!</P>

 

[2k2wranglerx]

<P><div class="FTQUOTE"><begin quote><i>Originally posted by: <b>welshwitch</b></i> Hi, 2k2wranglerx, I'd love to talk w. you about my experience w. CF anytime--shoot me a PM if ya want. I'm 31 and living a healthy and overall NORMAL life w. CF. The hardest thing is dealing with the mental side of it. Staying POSITIVE and ENGAGING with it is my secret! (Oh yah and surfing and running--makes my lungs happy <img src=""></end quote> </P>
<P></P>
<P>I will take you up on that sometime! really! </P>
<P></P>
<P>my wife and i live a pretty active lifestyle, unfortunately for weatherwe are in pittsburgh, PA (go steelers!)where theweather is often not asforgiving as other areas. But fortunately i've readwe have one of the best CF centers at children's hospital. </P>
<P></P>
<P>We bike (last year i did the ride from Pittsburgh pa to washington DC), kayak, occasionally indoor rock climb, ski (just did vail, CO this year), waterski, etc. </P>
<P></P>
<P>A few questions for you though. How does altitutde affect you? Any issues being around dust (my wife horseback rides regularly and was wondering if amelia will be able to as well). </P>
<P></P>
<P>Thank you so much for sharing your experience! I'm sureI'll be contacting you at some point to pick your brain!</P>

 

[2k2wranglerx]

A huge thanks to everyone for all the advice. I can't multiquote on this board so i'm not going to quote everyone. Just know that i really appreciate all the kind words and advice, and will definitely be following a lot of the advice that the more experienced (than me) parents have.

on a happier note. I have the coolest bosses in the world. I told them what was going on and literally 10 minutes later i have a stack of stuff on my desk to help fund the whole thing.

PA has a Medical assistance loophole that i can access to pay for her medications! She will be independent of her parents and will qualify through the loophole! That was a GIGANTIC relief! My wife is a special education teacher and i work for the county, so we are far from wealthy people.

Also, within our county i can access physical therapy, Occupational therapy, etc through early intervention. Even if she doesn't need PT/OT she will still be tracked (if i want) through the EI system and if she ever needs it, it will be readily available. What's amazing there is they come right to my house to do any therapy we need!

I know i don't have much to offer on here, but if anyone is in PA and needs help with any of this stuff please don't hesitate to let me know. ryan.dunbar@alleghenycounty.us is my work email. I specifically help kids with disabilities with school issues, but if anyone needs some of this other information i'd be glad to share it.

Thank you so much everyone!