丹尼斯·奎利仍然清楚地记得23年前她接到女儿儿科医生打来的一个意外电话, whom she had yet to even meet.

The doctor shared that Denise’s daughter, Caroline, had screened positive for phenylketonuria (PKU), a rare, 遗传性代谢疾病，以酶缺乏为特征，抑制了身体分解一种叫做苯丙氨酸的氨基酸的能力，这种氨基酸存在于所有含有蛋白质的食物中.

“I was sitting on the couch next to my mom, 紧紧抓住她的手，另一只手抱着我美丽的宝贝女儿, still recovering from a C-section,” recalls Denise. “I was nervous – terrified honestly – about what the future would hold. But for us, early detection has been a very good news story.”

丹尼斯说，女儿刚出生几天就收到了诊断结果，这让她的家人肩负起了有效控制病情的使命. It also led the family to a close-knit community, 并激励丹尼斯成为一名倡导者——为患有PKU和其他代谢疾病的人服务, as well as for the importance of newborn screening. She is currently the President of New England Connection for PKU and Allied Disorders (NECPAD), was a former board member of the National PKU Alliance (NPKUA), and has served on the U.S. 新生儿和儿童遗传性疾病卫生与公众服务咨询委员会证据审查小组委员会.

Denise and her daughter, Caroline, have also been guest lecturers at Harvard Medical School, 麻省理工学院和波士顿大学医学院.

为了纪念新生儿筛查宣传月的结束，博彩平台网址大全采访了丹尼斯. Learn more about her personal experience with early diagnosis, 她在NECPAD的工作，以及她希望在未来几年看到新生儿筛查的发展. 

问：新生儿筛查和尽早接受诊断对你和你的家人意味着什么? 

Our lives could have been different without that early diagnosis. 如果卡罗琳没有从一开始就坚持低蛋白饮食，这个简单的脚后跟刺痛帮助她避免了可能造成的不可逆转的伤害. Newborn screening is so essential. 每次想到那个血点，我都会激动不已，永远心怀感激. 底线：它挽救了生命，也挽救了无数患有这种疾病的人的生活质量, as well as their families and caregivers. Today, 博彩平台网址大全的女儿很漂亮，也很聪明，如果没有新生儿筛查，她的人生道路会更加艰难. So, I feel extremely blessed to have gotten that call. 

问：你是如何成为北京大学和相关疾病社区的倡导者的? 

Pretty much from day one, 我想说的是，博彩平台网址大全波士顿儿童医院的代谢团队知道我会热情地参与博彩平台网址大全的社区，因为我提出了正确的问题, and my husband, Desi, and I were intent on taking care of our Caroline. We were told about NECPAD, 被介绍给其他家庭，博彩平台网址大全与社区紧密联系在一起. We wanted to meet and spend time with adults living with PKU and frankly, know they were okay, and that our daughter was going to be okay. And now, our family can help play that role for others. 我想到了许多与北大同住的成年人，他们都是我一路走来遇到的, as well as their parents, some of my closest and treasured friends and, frankly, role models for our Caroline and me! I am totally inspired by our rare community, whom I consider family.   

Q: How does NECPAD support people with PKU and their families? 

博彩平台网址大全为新英格兰地区所有患有PKU和相关疾病的个人和家庭提供支持和服务, 同时也鼓励研究并努力提高公众对代谢疾病的认识. 博彩平台网址大全全年都有很多活动来帮助博彩平台网址大全的社区团结起来, because that’s so important, for both adults and kids, but especially the kids, 这样他们就可以和其他和他们一样的孩子一起度过高质量和超级有趣的时光. And adults living with metabolic conditions, 父母和照顾者可以从处于类似情况的其他人那里获得支持.

博彩平台网址大全也尽博彩平台网址大全所能帮助那些目前没有从事医疗保健的人回到管理自己病情的轨道上. 为了成功地做到这一点，博彩平台网址大全与人们在他们所在的地方见面，同情他们，不加评判. They may need support in getting back on diet, 甚至在做一些对患有PKU的人来说很难的简单任务时也是如此. 有些人可能需要经济援助或交通工具才能回到诊所. Whatever people need, 博彩平台网址大全尽最大努力找到实现这一目标的方法，这样他们就可以回到医疗保健提供者面前，想出一个最好的计划来管理他们的病情. NECPAD在联邦层面上也是博彩平台网址大全社区的有力倡导者. 博彩平台网址大全鼓励其他非营利组织和其他利益相关者去认识他们所在的地方, 并倡导通过《博彩平台网址大全》（MNEA）为所有人提供更好的医疗保险.  

问：对于通过新生儿筛查确诊为PKU的新父母，您有什么建议? 

I encourage families to be as positive as possible. 想想看——父母无论如何都要给孩子喂奶. With PKU, they just need to feed their infant with a different ‘milk.’  The burden of the diet does fall on the parents and caregivers initially, but children will eventually learn what to do with the right guidance. 孩子们从他们的家庭和你身边的人那里得到引导. Be honest, of course, but always have a positive outlook. 每个人都有一些东西——博彩平台网址大全需要以最好的方式适应博彩平台网址大全的方式，像一个难得的家庭一样团结在一起，互相帮助. 我还告诉人们，作为一个社区，博彩平台网址大全处于一个很好的位置，因为博彩平台网址大全有治疗选择, dietary requirements are well-understood, with many low-protein choices available, and PKU is still being studied, with new options on the horizon. There is a lot to be positive, and forward-thinking, about.

Q: What are your hopes for the future of newborn screening? 

我希望新生儿筛查继续扩大，覆盖更多的条件，新生儿筛查的目标将完全实现. 这绝对是一个复杂的问题，还有其他父母可能和我有不同的感受. 我知道，对于一些患有严重疾病的孩子的父母来说，没有好的治疗选择，这可能是一个挑战. 但作为一个孩子从早期诊断中获益良多的家长, I’ll always be of the mind that I’d want to know, because if there were ever a chance to cure a condition, or treat it, or fight for it, I’d want to do that. I also hope the conversation around the amazing, 新生儿筛查带来的挽救生命的好处将激励博彩平台网址大全的立法者全力支持该计划及其目标, and push for greater access to comprehensive treatment and care.