I've been asked to provide a patient's perspective at an Alpha-1 Foundation Critical Issues Workshop in September regarding newborn screening for Alpha-1.
I'm a little nervous about this, but mostly because I feel so passionate about the subject. I know that this can be a sensitive subject, and as you may have guessed, I support newborn screening for Alpha-1. This is especially based on my own experience with having 2 children diagnosed, but I became quite passionate about it after Grace's newborn screening results. Alpha-1 was not included in Wisconsin's testing in 2002 when Grace was born, and it still is not included. Anyway, that was a pinacle moment for me as a parent. At that point, we were given an "all clear" based on her newborn screening panel. I hadn't yet heard of Alpha-1 or understood its complexities. I remember sighing a huge sigh of relief at the news of Grace's great results only to have Alpha-1 enter our lives about 1 week later.
Obviously, after the initial shock wore off, I've come to respect Alpha-1 in a lot of ways. No, I wouldn't purposefully ask to have a child with Alpha-1, but I honor its force in our lives. It has provided me with perspective and a healthy amount of remembering to live in the moment.
SO, what the heck is my point here? WELL, I'd like to ask that any parents of children with Alpha-1, share their opinions on newborn screening for Alpha-1. Are you for it? Against it? Please tell me why.
I know a lot of Alpha-1 parents lurk on my blog, and that is okay, but I'd love to hear your thoughts through commenting on this entry or by sending me an email to jenchar [AT] uwalumni [DOT] com.
I'd like to prepare myself for the kinds of questions I may encounter while at the workshop. It will be full of medical professionals who have influence and knowledge of Alpha-1. I hope to encourage them to allow parents to have information that is critical to the upbringing of their children.
Thanks in advance for your thoughts. I'm sorry if I rambled...can ya tell I'm nervous? haha
Jen
3 comments:
Jen - I definitely would like to see alpha-1 included in newborn screening for all states. When Nathan was born at 38 weeks he weighed 4lb. 11oz. and he was diagnosed with intrauterine growth retardation. He spent a few days in NICU and nothing was found as a cause. Six years later he was diagnosed with alpha-1 and at that time he was already in chronic liver failure and had a transplant just 7 months after diagnosis. I am not sure if an earlier diagnosis would have changed anything, but at least we would have been armed with knowledge. Transplant would have been less of a shock. Newborn screening for alpha-1 could have given us a diagnosis sooner. Lora
Hi Jen-
Wow-sounds like Lora and I had extremely similar experiences, luckily Hank's diagnoses came much earlier. Having said that,
I agree that it would be beneficial for the Alpha 1 to be part of the newborn screenings. We feel very fortunate that we found out at 13 months so that we can do everything possible to protect Hank's lungs and pray that his liver keeps on doing a good job. From what I have read many people that don't have severe liver issues find out they have Alpha 1 after they have lived a life that exposed them to lung irritants, either because of their job or lifestyle choices. What if these people had been diagnosed as children? Would they have made different choices?
Good luck at you conference, thanks for all you do for Alphas and their families.
I think alpha 1 antitrypsin tests should be included with newborn screening. We have had A1AT deficiency in my family (In Egypt) and tried to convince our doctor to do the test on our newborn. He said he would wait at least few years till our child is older.
We finally decided to get the test done on our own, through www.dnadiagnosticlabs.com since they are the only company we found to provide this genetic test.
He is positive for the deficiency. and we are starting recombinant A1AT therapy. I strongly recommend testing for it and it should be included in newborn screening. we are not sure what is going to happen next, but we are the hoping that the therapy work
Post a Comment