Face to Face with the Group That Saved My Son's Life

While I was in Atlanta at the Joint Newborn Screening and Genetic Testing Symposium with the Consumer Task Force, I had the opportunity to meet many of the people who are involved with the newborn screening program in Colorado.  I already knew some of them from our interactions with the Inherited Metabolic Disease Clinic at Colorado Children's Hospital, but I was also introduced to some other influential folks from the public health side. 

Like always, the first thing I did was to thank them for the work that they do because my family is still grateful each and every day for the life-saving information we gained from LB's newborn screening.  The next thing I did was to ask how I can help them in their work.  Their answer was for me to join the State Newborn Screening Advisory Committee, which was in need of some parent representation.  Last night, I attended my very first meeting!

The Newborn Screening Advisory Committee exists to advise and make recommendations to the Colorado Department of Public Health and Environment's Laboratory Services Division and Prevention Services Division on issues in newborn screening.  It is comprised of experts from across the region in various medical, genetics, research, laboratory and public health disciplines.  From my understanding, there are similar groups in most states who help advise state-level policy on newborn screening.

The focus of last night's meeting was three-fold...

1) To discuss the state's implementation plan to begin screening for Pompe Disease, a lysosomal storage disorder recently recommended for inclusion in the national Recommended Uniform Screening Panel (RUSP) by the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children.  I was surprised to learn that there are several laboratory methodologies that can be used to screen for this particular condition.  The committee wanted to be sure to use the methodology that would be most conducive to integrating other lysosomal storage disorders that are also expected to be included in the RUSP in the near future, particularly MPS I (aka Hurler Syndrome).  Since Pompe is a condition that has both an infantile-onset and a late-onset form, there was also a good deal of discussion on how to be sure that the individuals with infantile onset are caught before 1 month of age so that treatment can begin immediately and late-onset individuals are identified so that they can be monitored for symptoms that will signal when treatment should begin.  In both instances, there would be huge gains through early diagnosis via newborn screening, in particular with the late-onset group that is currently experiencing a 6-10 year diagnostic odyssey to even learn they have Pompe.

2) To update the committee on plans to implement Critical Congenital Heart Defect (CCHD) screening in Colorado.  There is national debate about whether pulse oximetry monitoring for CCHD should be a standard of care screening performed within the hospital or a state-mandated newborn screening.  Colorado is moving toward implementation of mandatory CCHD screening; however, they are concerned about how altitude can affect the cut-offs for what is considered a normal or abnormal screening.  There are several Colorado hospitals that are beginning pulse oximetry screening on their own as a standard of care in their newborn nurseries this summer and the hope is that soon all hospitals in the metro area will be doing it (and the metro area is where the majority of the births in the state occur).  With all the data from these hospitals in the coming months, the researchers and the advisory committee are confident that they will be able to make an informed decision about where cut-offs should be established and move forward with officially adding CCHD screening to the state's newborn screening panel.  Once it is included on the newborn screening panel, the Department of Public Health can begin a tracking and follow-up program to monitor this population and the CCHD screenings taking place statewide, which is important for Quality Assurance and Quality Control measures.

3) To discuss a recently published journal article on Congenital Adrenal Hyperplasia (CAH) that was authored by several committee members.  Colorado is one of only nine states that perform a mandatory second newborn screening.  The first screening typically takes place in the hospital, while the second one typically takes place during a baby's first visit to the pediatrician at approximately 1-2 weeks of age.  This study showed that nearly 30% of CAH cases were picked up on the SECOND newborn screening, meaning they were missed during the initial screening.  This is a particularly important finding for boys with CAH (the gender most often missed) because babies born with CAH need to be detected early and put on medication to prevent salt-wasting which can lead to dehydration and even death.

Although the meeting was quite technical, it was also very reassuring for me as a parent.  For Pompe, I was comforted to know that the committee is not rushing to implement screening in a manner that isn't mindful of additional screenings that could be added in the future.  They are sizing the program for maximum benefit to babies born today AND in the future, while also being mindful of the taxpayers and maximizing what they can do with their limited funds.  The fact that individuals with Pompe will soon have the benefit of early screening is also very exciting.  The current status quo of living for a decade with this condition, but not being able to get a diagnosis sounds incredibly frustrating.

For CCHD, I was pleased to hear that they are being careful to assign informed cut-offs so that they can minimize false-negatives and false-positives, both of which can be traumatic for families.  The cooperation and initiative taken by the hospitals is also a huge boost for CCHD screening here in the state.  Although many of these hospitals compete for a piece of the lucrative childbirth business (all the fancy birthing suites, TV commercials and various amenities for new moms), on this subject they will all be coming together to share pulse oximetry data and do what is best for ALL babies born in the state, not just the ones born at their hospital.  They know when to compete and when to cooperate. 

The meeting was a living, breathing ethics lessons with many competing priorities to be sorted through.  In the end, it was evident to me that everyone in the room was steadfastly committed to doing everything they can to ensure that the Colorado screening program continues to save lives and improve the lives of those with conditions detected by screening.   It was very much an honor for me to be part of it.   It was also very palpable in my heart that the people in that room each played a role in saving my son's life.  It meant the world to me that I could thank them, in person, for the work that they do.  They save babies lives every single day and I couldn't be more grateful that this group exists and that they do their jobs so passionately.

Spreading the Word!

I was recently interviewed by my graduate school about the work that I'm doing for newborn screening advocacy.  Although I earned a degree from a Public Policy school, my focus was always on environmental and energy policy.  I never took a single course on health policy.  However, after my son was born with a condition detected through a Public Health program, I found that policy is policy is policy.  It doesn't matter that my day job is in transportation and energy policy, those same skills translate very well to any field of policy.  The same may be true for you.  If you're thinking of becoming an advocate for newborn screening, I'd encourage you to just think about the things that you already do well and figure out how to do those same things to benefit the world of newborn screening.  We need you!

Visit the Ford School website for the original article or read below...

Kay Kelly works in transportation policy. So how did she become an advocate for this important public health program?

Kay Kelly and family

Wednesday, June 19, 2013

It was a scene that began like so many others: Kay (Milewski) Kelly (MPA '05) and her husband had just brought home their three-day-old son from the hospital. Waiting to welcome the newest member of the family, along with a homemade birthday cake, was Kay's oldest son and a house full of relatives. But as everyone sat down to dinner and a round of "Happy Birthday," the phone rang. It was the pediatrician: not fully seventy-two hours old and her newborn had tested "off the charts" for what Kay and her family now know is MCADD.

Newborn screening: What it is and why you may not have heard of it
Medium-chain Acyl-CoA dehydrogenase deficiency (MCADD) is a genetic metabolic disorder found in 1 out of 15,000 newborns. In babies with MCADD, a broken or missing enzyme renders the body unable to oxidize fatty acids—turn fat into energy—and can cause severe hypoglycemia if the body goes without food for long periods or isn't properly hydrated during illness.

"His body treats them [fatty acids] like toxins and gets rid of them, so he can't rely on stored fats for energy like we do," says Kay of her son, whom she describes as a healthy, happy 15-month-old. "He's going to be fine, and it's all because we found out. The first week of life can be very dangerous, illnesses can be very dangerous. And if we hadn't known better, we could have lost him. It's something that we're really thankful we know about."

Kay is talking about newborn screening, which tests every baby born in the United States for serious but treatable health disorders and conditions. While all states perform newborn screenings, the specific conditions screened vary from state to state. Most states screen for 29 of the 31 conditions on the Recommended Uniform Screening Panel, developed by the Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) in 2006. There are thirty-one disorders in the screening panel to date, says Kay, and every one of them is treatable if identified early. "All children who screen positive for a condition benefit from treatment and learning that they have the condition," she explains.

Screening tests exist for nearly sixty conditions, but less than a decade ago, some states tested for as few as four. "I think [newborn screening] is one of the greatest public health advancements of the century, but it's a largely unknown program," says Kay.

The screening process is simple: between twenty-four and forty-eight hours after an infant is born, a hospital technician pricks the heel of the newborn and blots the emerging drops of blood with filter paper. The blood spots are then sent to a state laboratory for testing. If the results come back abnormal, or outside of the normal range, the parents are asked to follow-up with a healthcare professional or specialist.

Screening also includes a hearing test and, in some states, pulse oximetry for heart defects. The screenings, and knowledge about potential diagnoses, can be lifesaving. Yet newborn screening isn't on the radar of many parents. "Parents receive so much information during pregnancy that newborn screening often falls to the bottom of the list," says Kay. "Most prenatal classes don't even cover newborn screening and hospitals tend to just hand you a brochure while they're performing the screening. Like many other public health programs, people only learn about newborn screening if there's a problem."

On a mission
Kay and other dedicated parents and organizations are working to change that. Kay blogs regularly at MCADD for Moms , a resource she created for families who have children with the same metabolic disorder as her son. She also applied to become, and was appointed, a member of the 2013 Consumer Task Force on Newborn Screening, which is a program of Baby's First Test , a federally funded clearinghouse that provides extensive information and resources about newborn screening at the local, state, and national levels for parents and health care professionals.

Active and passionate about child health advocacy issues like newborn screening, the Consumer Task Force comprises parents from across the country. Most task force members have or had children with conditions either detected or that could have been detected through newborn screening. In May 2013, Consumer Task Force members participated in a panel at an international meeting to share the family experience of newborn screening with scientists, medical professionals, and policy makers. In addition to increasing their relationships in the newborn screening and health community during a one-year term, each member also develops and executes a project in her or his home community to raise awareness. Kay constantly educates herself and others about MCADD, newborn screening, and the issues that affect them. She is currently urging her state representatives to reauthorize the newly expired "Newborn Screening Saves Lives Act," which would expand state-level screening programs and keep testing safe.

Kay works as a project manager for the Clean Cities program at the U.S. Department of Energy, focused on transportation policy and the future of alternative fuels. She likes her work and it remains important to her.

But newborn screening advocacy—and educating parents, citizens, and decision makers—has become a full-on mission, and her skills negotiating time constraints, multiple stakeholders, and often complicated information translate seamlessly from one policy issue to the other. So does her desire to make a difference.

"The motivation to get involved comes—a lot—from the Ford School," Kay explains. "I can't just sit back and be thankful about this; I need to go tell everybody about it. I need to talk to the decision makers and express to them how grateful I am and do everything I can to see to it that the progress that's been made in newborn screening continues to help other families like mine."mcaddformoms.blogspot.com/

From the APHL Blog...

This blog definitely touched my heart.  A woman who works in newborn screening has a niece who screened positive for PKU (a metabolic disorder).  She writes about her family's experience, their gratitude and how she will never view her job the same way again.  Many of her sentiments are familiar to me and our family's experience with newborn screening.

Association of Public Health Laboratories Blog - Newborn Screening Gets Personal

Talking About Teeth

LB had his first visit with the dentist last week.  I was more anxious to take him to the dentist than I was with our older son because, let's face it, LB eats and drinks all the time and we don't stop to brush his teeth any more often than we do with his older brother. We like to make sure LB's getting the calories he needs, so during the day he snacks a lot and his drinking cup is usually filled with milk or juice instead of plain water.  At night, we brush his teeth before bed, but he can sometimes wake up and eat once or even twice during the night and we don't really want to get him all agitated and keep him awake any longer than necessary by brushing his teeth after each feeding.  I was honestly worried about all that sugar sitting on his teeth throughout the day and during the night.  I was convinced that the dentist would take one look and scold us for not taking better care of those little teeth.

Before our appointment, I visited the FOD Support website and printed out the MCADD Information for Clinicians because I wanted to be able to hand something to the dentist to explain LB's metabolic disorder so that he would understand the feeding system we've been working with for the last 15 months and the importance of making sure he eats often, even if it's in the middle of the night and even if we can't immediately brush his teeth afterwards.  I really like this resource because I've been told that in 8 years of medical education, metabolic disorders are covered in only about a paragraph.  If that is true for doctors, I imagine it may be even less for dentists and I wanted him to have a piece of reference material for LB's chart and his own education.

I was very pleased with the dentist's reaction to LB's teeth -- they are fine!  He did a regular cleaning and brushed them with a fluoride treatment that he assured us would help keep the enamel strong despite his feeding needs.  I was also pleased that he asked a lot of questions about MCADD and LB's medical history and seemed genuinely interested in learning more.  He even asked his assistant to leave LB's chart on his desk so that he could read over the clinician information sheet later that day.  I'm not sure that MCADD can have any detrimental effects on teeth, other than the concern about keeping them clean despite the need for frequent feedings I guess, but I told him that if he had any questions, he could contact our metabolic team for additional resources.  In all, I think it was a great (and very reassuring) visit.

The big news in teeth now is that LB has managed to sprout 3 new ones in the last week!  He was standing at 7 for a couple months, but his gums were definitely lumpy at his dental appointment so we were sure more would be popping through soon.  Sure enough, he finished out the last of the front bottom teeth and got two molars shortly after his appointment bringing his tooth total to a whopping 10!  We are officially half way through teething - hooray!  Now that's something to smile about =)

 

Fifteen Months

It has been a few months since I've done a monthly update, but there's so much going on in LB's life right now, I couldn't help but give a little update.

Other than a couple typical toddler runny-nose incidents that were snotty and messy, but didn't seem to bother him one bit, he has remained 100% healthy.  Hooray!

We're starting to get a lot more words.  I read a few articles that mentioned children with MCADD can have speech delays and since LB wasn't really talking at all, I was starting to wonder whether I should ask the pediatrician about it.  Then, all of a sudden, we went from a vocabulary of "this," "that," "yes," and "daddy" to a whole lot more words -- ball, catch, dog, juice, night-night, mommy (hooray!!), kiss, and probably a few others I'm not remembering right now.  In any event, I'm a whole lot less concerned about his speech than I was a month ago. 

He is definitely a boy on the move!  He has been walking since January, but is very adept at it now.  He can walk/run easily on all surfaces and doesn't trip and fall all that often anymore (this makes me happy because one of my least favorite things is when my boys face-plant on the concrete - it just makes me cringe to watch it and not be able to stop it).  He is also discovering climbing and can successfully work his way up onto all sorts of high furniture - the kitchen table, the couch, the beds.  He has also figured out that if he can't get up onto something, he can always go grab the step stool from the bathroom (the one his older brother uses to reach the sink) and set it beside the item he'd like to climb -- voila! 

His favorite toys right now are all things sports. He loves all types of balls -soccer, foot, basket, base, bowling, golf, etc. - along with all the long sticks that accompany them.  He can swing a mean golf club with pinpoint accuracy on your shin.  He can play catch with us for 15 minutes at a time and not tire of it one bit.We are convinced that he is going to be our sporty kid because he is literally obsessed with this stuff.  Thankfully, I've been very encouraged by stories of families with older MCADD kids who are successfully able to participate in sports, so the thought of him playing a sport doesn't make me as uneasy as it used to.

He also loves dancing and will bop along to music.  He loves books and brings them to us one after another, happily pointing at the pictures and nodding along to the parts of the story that he apparently agrees with most.  He gives the most wonderful drooly open-mouth kisses while saying "muuuuaaa!" that absolutely melt my heart.

With all of his activity, I'm very grateful that he is eating well and enjoying a wide variety of food. One of his favorite meals is our family's tradition of Saturday morning oatmeal pancakes. He also loves things like cottage cheese, apples, PB&J, pineapple, macaroni and cheese, butternut squash, meatballs, just about any recipe for chicken, tortillas, hummus and lots of other fruits, veggies and grains.  

We've figured out a good bedtime snack system that's working pretty well.  Since our dinnertime is usually pretty close to bedtime, it was hard for us to get him back into the highchair for a sit-down snack so soon after dinner at a time when he'd much rather be romping around with his big brother.  So, now we're giving him a sippy cup of whole milk and a snack cup about a half hour before his bath that he can carry along with him during the romping. The snack cup contents vary, but it's usually some kind of whole-grain cereal or crackers (cheerios, graham crackers, peanut butter sandwich crackers, belvita breakfast wafers, etc.).  He'll drink and snack pretty happily, but at the point that he starts spitting the crackers out, we know that he's full to the brim and we don't force him to eat any more. However, we will hold onto the sippy cup of milk and let him drink that as we're reading his bedtime stories (the last step of our bedtime routine before lights out). 

We have officially weaned him off of the bottle during the waking hours, but he will sometimes have a small 4 oz bottle of toddler formula when he wakes up hungry at night.  During most night wakings, he will soothe himself back to sleep within a minute or two, but on the nights where our evening routine was a bit off (which happens to every family from time to time), or nights that we know he didn't eat as much of his dinner and/or bedtime snack as he normally does, we'll happily mix him up a quick bottle when he wakes (we keep the can of formula in our room along with a pre-filled bottle of water). If his fussing lasts longer than a minute or two, it's usually cured quickly with a small bottle. Sometimes he'll drink it all and be satisfied and sometimes, he'll only drink a few ounces before pushing it away and snuggling back into sleep.

Sleeping has really improved in the last few weeks, too.  About a month ago, he had slept through the night a total of 5 times, but now he's sleeping through the night much more often - at least 2-3 nights per week.  He's been working on cutting some molars, so that might actually be factoring into the sleep disturbances more so than the poor sleep habits we've established through his first year MCADD feeding schedule.  I have friends with children of similar age (not affected by MCADD) who are experiencing similar night restlessness due to teething, so it makes LB's sleep seem much more "normal."   

All in all, things are going great and we're excited for all the fun we'll have this summer!