Why I Tell Our Story

Considering that it has been more than 18 months since my last post to this blog, you can probably tell that MCADD is fading into the background for our family.  While we never actually forget that our son has MCADD, it certainly isn't something that dominates our thoughts like it was when he was an infant who needed to eat every couple hours.  Our son is five years old now, starting kindergarten, playing sports, being his silly self and generally just being a kid.  Other than his nightly snack at bedtime and that one crazy day this summer where he was so tired that he wanted to sleep for longer than 12 hours (we started waking him up every 15 minutes to make him drink something), he's very much a normal kid.  Hooray!  We couldn't be more grateful.

Much of my focus lately has been on newborn screening advocacy.  I will always be grateful for our son's rapid newborn screening and the information we received that helped us keep him safe in those early, fragile days of his life.  I'm always thinking about what I can do to ensure that other families have similar happy endings, even when they experience a positive newborn screening. 

I have had the opportunity to serve on the Colorado Newborn Screening Stakeholder Committee for the past four years and to participate in the Baby's First Test Consumer Task Force on Newborn Screening in 2013.  Both groups have exposed me to a myriad of ways that I can advocate for families like mine that have been impacted by the lifesaving power of newborn screening. I don't have to be a medical professional or a genetic expert to do any of this.  I just get to be me and talk about ordinary things in my life, which just happens to include MCADD.

In June, I was invited to speak at the Genetic Alliance "Beyond the Blood Spot Education and Engagement Summit" in Washington, DC where I shared our newborn screening story with more than 100 representatives from 22 states who were gathered to discuss best practices for improving parent and provider experiences with newborn screening.  After that meeting, I was interviewed for an article in Exceptional Parent Magazine about my journey from being a parent of a child with a rare condition identified through newborn screening to an author of a book about that condition.  The article, entitled "From Screening to Storytelling: One Mom's Advocacy Journey" was published in the August edition.

While I'm a bit hesitant to categorize myself as an "exceptional parent", I do feel strongly that our family's story is valuable.  I think about how scared I was when our son was diagnosed with this rare and unpronounceable condition and how much I longed for someone else who had walked this road with their child to tell me that my baby was going to be OK.  I think about healthcare professionals, childcare providers and teachers who have never met anyone with my son's condition and are looking for advice on how to support families like ours.  I think about how tight public health budgets are and how easy it would be for a state to cut this vital program without fully realizing its importance. If I don't tell our story, where will these people get their information? 

The reality is that there aren't many people who can tell the story of rare disease and newborn screening (that's why it's called "rare disease" right?).  Your story is valuable too and I urge anyone with a story to tell it.  When we tell our stories, we shine a light on the good that screening programs provide to all newborns and the immense potential of our children when they have the opportunity to grow up healthy thanks to early identification of their condition and a lifetime of mindful management. Not to mention the reassurance that we can provide to others who are stepping onto this path with us because they just got that phone call about their baby.



 

The Challenging World of FODs

A fellow Consumer Task Force on Newborn Screening Mom recently wrote an article for CoSozo about her family's experience raising three children with MCADD.

I would love for everyone to take the time to read her article.  I really love everything she has to say!  Thanks Kelly for sharing this with the world!

In case you missed that link, here it is again -- The Challenging World of FODs.

Privacy Versus Poster Child

From the very beginning of our MCADD journey and my subsequent quest to increase awareness of newborn screening and metabolic conditions through this blog and elsewhere, I've been very careful to keep our son's name private.  He didn't ask for this and he's too young to tell us that he wants to be an advocate for it.  For all we know, he might want to live his life with a metabolic condition quietly and out of the spotlight, so who am I to make him a poster child without his permission.

A recent blog post from a fellow Consumer Task Force on Newborn Screening Mom renewed my commitment to privacy for our son.  Amanda's son is older than our LB and her experience gives me a preview of what young adulthood may be like for our son if every detail of his medical odyssey is chronicled for everyone in his school or soccer team or scout troop to Google.  Like Amanda, I hope to continue to share relevant general information about MCADD on this site, but my son will remain out of the spotlight until such time as he can make that choice on his own.

I encourage you to read Amanda's incredible post about her poster child growing up.  She is a beautiful person who is deeply thoughtful and generous, not to mention an incredible writer.

Prenatal and Newborn Screening Timeline

During my tenure on the 2013 Consumer Task Force on Newborn Screening, I had the opportunity to dream up a project that would help educate my community about newborn screening.  This project was supported through Baby's First Test by grant number UA8HP11070 from the Bureau of Health Professionals, Health Resources and Services Administration, U.S. Department of Health and Human Services.

The goal of my project was to develop a resource about newborn screening that could be used to educate expectant mothers about this life-saving test during pregnancy.  Right now, the vast majority of newborn screening education occurs in the hospital during the actual screening test, which takes place 24-48 hours after a baby is born.  As any new mother can attest, 24-48 hours after giving birth is a very busy time and certainly not the best time to adequately convey anything beyond the most basic information about newborn screening. 

With this project, I was hoping to give prenatal care providers (Obstetricians, Gynecologists, Midwives, etc.) a piece of literature that was relevant to their patients during pregnancy and introduced the topic of newborn screening at a less chaotic time.  After all, prenatal care proviers have 9 months of appointments with their patients, while the lab tech who performs the newborn screening usually only has a few minutes.  Thus, the idea to marry prenatal screening tests with newborn screening was born!

After months of work with some incredibly creative and talented design students at  Metropolitan State University of Denver, my prenatal and newborn screening timeline was developed.  It is a two-sided, tri-fold pamphlet that I hope many prenatal care providers will pass out during their initial appointments with expectant mothers.  It provides a checklist for pregnant women to navigate the various prenatal testing and includes the American Congress of Obstetrics and Gynecologists recommendations for what week of pregnancy certain tests can be expected to be performed. The newborn screening information is covered on the inside of the pamphlet along with a link to the Baby's First Test website for more information.  There is also a space for important contacts and appointment notes to be jotted down and I hope that lots of people will think to hang this on their refrigerator or bulletin board to refer to throughout pregnancy. 

If you or anyone you know would like a PDF of this literature, it can be downloaded from many places including the Baby's First Test website and the NewSTEPS website.  Please be sure to do a test print before setting your printer up for multiple copies. You might need to adjust the printing preferences to flip the pages on the short edge since the adobe default is to flip the pages on the long edge.

How I'm Celebrating Newborn Screening Month

I am ashamed to say that less than two years ago, I was blissfully ignorant of the test that would save my son's life.  My husband and I were both healthy and came from healthy families with great genes.  I had read all the books on pregnancy and taken all the classes.  I had already given birth to one healthy baby boy, yet somehow newborn screening took us by surprise.  This surprise didn't come while his screening was happening in the hospital, 24 hours after LB's birth, but 3 days later when we got a call from our pediatrician telling us our son's levels for MCADD were "off the charts" and he was a presumptive positive for this rare, random metabolic condition that we couldn't even pronounce.

We got a crash course in newborn screening as we were learning how to care for our adorable baby boy with a metabolic condition.  Once the shock of it all wore off, I felt an overabundance of gratitude for this system that I didn't even know existed and I vowed to make sure that more parents were aware of this lifesaving test.  I was selected to serve on the Baby's First Test 2013 Consumer Task Force on Newborn Screening and I knew that my project as part of this effort would somehow have to do with educating expectant parents about all the things I wish I knew about newborn screening:

1) I wish I knew that newborn screening was going to take place.  I'm glad my newly postpartum hormones didn't cause me to freak out on the poor technician who came into our room to take drops of blood from our son's heel, but I kind of wish I didn't miss it altogether with both of my boys, either.  Especially, now that we know what we know.  I wish I had a chance to say thank you to that technician.

2) I wish I knew why newborn screening was even necessary.  He had great APGAR scores.  He was a healthy weight.  He was latching well.  All the doctors who examined him in the hospital told us he was healthy.  Why would a perfectly healthy baby boy need to have his heel pricked?  Couldn't everyone see that he was perfect?!  Well...he was perfect on the outside, but we soon found out that there was something going on inside his body that no one would have been able to spot just by looking at him.  There was something invisible going on, an error in his genetic code that was putting him at risk of all kinds of scary things.  I wish I knew that there was a test like this to let us know that our healthy baby boy really was HEALTHY - inside AND out.

3)  I wish I knew that it could happen to me, to our family, a family with great genes and no history of anything like this.  I was the kind of person who didn't see the need to do any prenatal screenings either.  I figured that I was healthy, my husband was healthy and we came from healthy families, so something like this would never happen to us.  I wish I knew that we were not immune to this recessive genetic condition popping up in our son - a 1 in 15,000 chance.  For my husband and I, we just both happen to have the same silent genetic mutation and we just happened to fall in love and have a family.  We now know that it's a 1 in 4 chance that our children could have MCADD.   It can happen to us and it did.

4) I wish I knew that there is  system in place to support and educate families with positive screenings.  Not knowing that newborn screening even existed, I felt very alone and very scared in those first hours and during that long first night home with an MCADD diagnosis, unable to sit down and talk face-to-face with our pediatrician until the next morning.  I now know that I have a team of genetic counselors who explained autosomal recessive inheritance to us and can coach us through any future pregnancies with regard to MCADD and who personally worked with our pharmacy to ensure that the medication he needs can be supplied to them.  I now know that I have a team of metabolic specialists ready to answer my phone call 24 hours a day 7 days a week when my child is ill and a pediatrician who cared enough to give us his personal cell phone number so that we would never have to use his answering service.  There are also scores of online support groups for families and an endless array of resources for every possible need in our lives -- feeding tips, diet tips, educating our child's teachers, creating 504 plans, you name it.  I am not alone!

In thinking about the best way to spread this message, I was immediately confronted with the newborn screening conundrum -- obstetricians and midwives take care of the pregnant woman and newborn screening is a test done on infants, in many cases BEFORE they even see their regular pediatrician.  It happens during a transitional phase of care between the mom and the baby.  Not to mention the fact that it happens during one of the most chaotic times -- 24 hours after giving birth when you are exhausted and sore and trying to juggle excited family members and doctors and nurses and lactation specialists and phone calls and more excited family members and take care of this tiny little life that you are still absolutely breathless about (i.e. NOT the best time to educate anyone about anything). 

Considering a 24-72 hour hospital stay is such a short span of time compared to the 9 months that a woman is pregnant, it just made sense to me that newborn screening education should be performed by the obstetrician or midwife, yet I was never handed any brochure about newborn screening from my OB's office.  I guessed this was because they specialized in pamphlets that talked about pregnancy, not about babies.  In my research, I found only one piece of literature that married prenatal education with newborn screening education and it was from the U.K. - a timeline that described all the screening tests to expect from conception through to newborn screening and I knew that it was genius!  I wanted to do something like this for the U.S.!

Since I am graphic-design challenged, I decided I needed a designer to help me put this idea on paper.  I happened upon a graphic design program at a local university whose department chair was interested in working with me.  She paired me with a class and I became their "client."  I made several visits to them - first, to tell my story and then to see how their creativity brought my idea to life.  I was blown away by how thoughtful and creative they all were.  They brought such energy to this effort and I know that they will be giving me a very difficult job of selecting only one winning design that I will produce and distribute across the region.  I am so very excited to get started.

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/

The Gratitude Grows - Part 2

I mentioned that there were a lot of presentations at the NBSGTS meeting and I would be remiss to not mention at least some of them here because one of the most touching things about the entire conference was the passion of the presenters.  It was evident that babies and families are at the very heart of everything that they are doing - the research, the quality indicators, the treatment trials, everything!  There is an army of people out there who are working day-in and day-out to find these conditions before children become symptomatic so that they are never in harm's way. These same people are also working tirelessly to track these children to ensure that they are getting appropriate follow-up care throughout their lives so that they can stay healthy and asymptomatic and therefore, safe.  It was such an incredible comfort to me to know that so many people care so deeply about this topic and about the babies and families that are affected.  We, as families of those impacted by newborn screening, are certainly not alone.

Since I went to about a gazillion presentations, I won't mention all of them here (at least not right away!), but here are some of the highlights of a few presentations that made a big impact on me.  I'll post more in the weeks to come and I'll hopefully also be hunting down some of the journal articles that go into greater detail than the presentations did.

Quality Indicators for Newborn Screening Programs - How do states know how well their newborn screening program is doing and how they stack up against other newborn screening programs across the country and around the world?  They have quality indicators!  There are 8 main indicators that describe a quality newborn screening program including things like the percentage of newborn screening cards that arrive at the lab and are deemed invalid (due to issues with collection/saturation and/or transport), the number of cards that arrive which are missing essential information, the time it takes cards to get from the hospital to the lab, the time it takes for the lab to process screening cards and the time it takes for labs to initiate follow-up with individuals who screen positive, etc. 

This presentation was particularly poignant for me because it just so happens that the state where we used to live (we moved when we were pregnant) had one of the highest rates of invalid specimens. It was glaringly high (17%) compared to practically all other states (1-4%) in the study.  When specimens are invalid, it means that the newborn screening cannot take place until a new card is properly collected from that infant.  This can slow down the process by several days and could mean the difference between life and death for kids with metabolic disorders.  I'm thankful that LB's screening was done right the first time and that we had information about how to keep him safe when he was three days old, never allowing him to be in danger from fasting.

MCADD and Newborn Screening in Japan - MCADD is the most common fatty acid oxidation disorder in Japan and is detected at a rate of 1:110,000 individuals.  They did a study on infants born between 1997 and 2012 and found 18 cases of MCADD.  Of those 18 cases, 8 of the children were discovered through newborn screening programs before they became symptomatic and the other 10 were discovered clinically once they became symptomatic (i.e. they were not discovered through the screening program).  The age at onset for the symptomatic group was under 2 years old and hypoglycemia (low blood sugar) was observed in all 10 cases while hyperammonemia (metabolic crisis) was observed in half of those cases.  For this symptomatic group, 8 out of 10 children exhibited some form of developmental delay, 1 child was deceased and 1 child displayed normal development.  For the asymptomatic group discovered through newborn screening 100% of children were exhibiting normal development.

This presentation underscored the importance of finding children with metabolic disorders like MCADD early so that they can avoid episodes of metabolic crisis and live healthy, normal lives.  I'm thankful again that we know about LB's condition and that we found out about it early, before he had any symptoms that could have had a detrimental affect on his development.  He is perfectly healthy thanks to early intervention through newborn screening.

New Cystic Fibrosis Therapies - I know Cystic Fibrosis (CF) isn't a metabolic disorder, but it IS a disorder detected by newborn screening and this presentation made me jump for joy.  CF has an incidence rate of 1:3500 births (much more prevalent than MCADD) and there are currently about 35,000 people living with CF in the United States.  CF is a progressive lung disease and currently has a median predicted survival age of 37 years, while the median age at death is 26 years.  These statistics may seem grim, but only a decade ago, you could probably shave a decade off each of these numbers.  They are definitely going in the right direction.  One of the reasons for this is all of the new therapies that are being developed.  For example, there is currently a drug that is hitting a home run for CF patients with a particular gene mutation.  In four years on the drug, all of the patients saw a sustained and remarkable increase in lung function.  A similar drug is currently undergoing trials and is VERY exciting because this drug would target the gene mutation that causes 80-90% of CF cases.  So far, it looks like this drug will also be a home run. 

Wouldn't it be awesome if drug therapies like this could improve the lives of 95% of people with CF?  Maybe even 100% if they can figure out how to treat the remaining genetic cause of CF that impacts that final 5% of CF cases?  It is exciting to think about what those median survival ages might be only a decade from now!  These kids could be living well into adulthood, maybe even into retirement!  I'm amazed and grateful at what the scientific community has come up with here.  What a blessing for all of the CF families out there!

The Gratitude Grows - Part 1

This week, I had the awesome opportunity to attend the 2013 Joint meeting of the Newborn Screening and Genetic Testing Symposium (NBSGTS) and the International Society for Neonatal Screening in Atlanta, GA with my fellow Consumer Task Force Moms (and Dads!).  I am excited to report that it was one of the most powerful experiences of my life.  I learned so much about newborn screening and met countless people who have such an incredible passion for saving babies lives along with improving the lives of individuals who are living with the conditions detected by screening.  It was nothing short of phenomenal.  It was also very emotional, but I swear that I only cried a little.

Probably the coolest thing about this conference was meeting the other members of the Task Force and sharing our stories with one another face-to-face.  I was lucky enough to be paired up with the mother of a child with Very Long Chain Acyl CoA Dehydrogenase Deficiency (VLCADD) as my roommate and the two of us had so much in common - we both have two boys who are very similar in age with our youngest boys both being the ones who are affected by a metabolic disorder.  Although all of our family and friends have been nothing but supportive, there really is nothing that can match the power of being with someone else who has actually been through the things that you have with your child, with the hospital stays, with the sleep deprivation, with the worry and with all those crazy thoughts that pass through your head that you are oftentimes too scared/embarrassed to talk about with anyone else.  The two of us talked through it all and it was hugely comforting to know that we are not alone.

Not only was my roommate amazing, all of the other task force members were amazing, too.  Several of them spoke on a parent/patient panel on Wednesday and those of us in the audience were holding back tears at several points during their presentations.  Everyone was sharing their gratitude for what the newborn screening system accomplished in their lives.  A man with phenylketonuria (PKU) talked about how although he received early intervention and is completely healthy, he once met a girl who didn't get early intervention like he did and she was profoundly disabled.  He contemplated what his life would have been like if his story was her story and he was similarly disabled.  He also thought long and hard about what her life could have been like if her story was more like his story and she was also identified early and prevented from becoming symptomatic. 

Another woman on the panel was the mother of a child with LCHADD (Long Chain Acyl CoA Dehydrogenase Deficiency) and not only was she grateful that newborn screening saved her child's life, she was also grateful that it saved hers.  Apparently in the LCHADD and VLCADD metabolic disorders, the unborn child's metabolic disorder can impact the mother's health during pregnancy.  This mother was in a coma, in renal failure at the end of her pregnancy and the doctor's didn't know how to help her until they realized that her baby had LCHADD.  The diagnosis saved both of them.

Other moms talked about their experiences parenting children with Cystic Fibrosis (CF), Sickle Cell Disease and Critical Congenital Heart Disease (CCHD) - disorders that require huge amounts of intervention and frequent hospital stays.  One mom's child had been through 6 open heart surgeries and he was only 10 years old.  I say "only 10 years old," but the reality is that 10 is an incredible age for a child with CCHD.  They told his mom that he would be quite lucky to make it to his fifth birthday, but he is beating the odds!  They are absolutely kicking CCHD's butt (and helping lots of other families along the way).

Although we were attending presentations on our own during the day, we got together as a group during the lunches and breaks to touch base with one another.  It was cool to see us putting our heads together and decoding some of the technical/medical jargon with each other.  The metabolic moms had experience and vocabulary for the metabolic presentations, while the CF mom had all the lung lingo down and the CCHD moms had the heart lingo down.  We all helped each other understand different parts of the meeting and I know that my knowledge in certain areas was solidified by hearing the more technical information from the presentations and then helping to translate it to those around me who had questions.

While we were there, they filmed some interviews with all of us that they are going to weave into a video about newborn screening.  They asked us about how newborn screening has impacted our families, how important it is, what we tell or want to tell other families about it, etc.  My interview only took about 15 minutes, but it was definitely emotional.  I don't know if I'll ever be able to talk about newborn screening without getting emotional.  It saved my son's life.  I don't know if there's every anything that I'll be more grateful for!

We also had a few get-togethers during the meeting where we were discussing our up-coming projects.  Everyone had incredible ideas for things they wanted to do -- outreach to hospitals, doctors, pediatricians, expectant parents, plus ideas for books for children, webinars that would give CEUs to individuals in the medical community and much much more!  I had about 3 ideas for what I wanted to do for my project going into the meeting and I left with double that amount.  I'm going to need to spend the next couple months narrowing things down so that I can get something accomplished before the end of the year.  I do know that I left this meeting with a huge sense of motivation.  Everyone there was doing their part to keep babies like mine safe.  Now, I just need figure out how I can also help make a difference.

A Year of Gratitude - Consumer Task Force Post

I am very proud to announce my first blog post as part of the Baby's First Test 2013 Consumer Task Force on Newborn Screening!  Please visit http://www.babysfirsttest.org/newborn-screening/blog/a-year-of-gratitude to read about how newborn screening saved my baby's life...and prompted me to become an advocate.

Interesting Facts About Newborn Screening

We had another Consumer Task Force Call this week.  I love learning about the newborn screening system that saved my baby's life.  Here are some interesting facts that I wanted to pass on...

• Over 4.2 million infants are screened each year, making newborn screening the most commonly performed genetic testing in the United States.
• The Recommended Uniform Screening Panel (RUSP) included 29 core conditions when it was first recommended by a group of experts in December 2002.  All of these conditions have the potential to result in serious medical complications and/or death if not recognized early and all children benefit from treatment once the conditions are detected.
• By February 2005, the RUSP became national policy and by December 2008, nearly all states were screening for many of these core conditions.  To see which conditions are screened for in your state, visit Baby's First Test!

Learning About Newborn Screening

I had my first Consumer Task Force call this week and all I can say is that I am incredibly humbled and honored to be part of this amazing group of mothers.  All of us shared our personal stories about how our families have been affected by newborn screening and what compelled us to apply for this task force and/or become advocates.  Some members of the task force have been advocates for quite some time and have accomplished some very impressive things.  Some members, like me, are new to the world of newborn screening advocacy, but oh-so-anxious to do everything we can to help spread the word about the testing that saves babies lives each and every day.

We also talked a little about Genetic Alliance, the organization who is sponsoring the task force.  They are a non-profit whose goal is to bring people together and improve health through genetics.  This particular aspect of their work is supported by a grant funded through the Newborn Screening Saves Lives Act.  They are now the nation's educational resource center for newborn screening information and their mission with this work is to help improve the educational model for newborn screening by bringing a public voice to the newborn screening world.

I, for one, am INCREDIBLY excited to be one of those public voices.  My family has such a great newborn screening success story that I love sharing it with anyone who has a moment to listen because maybe, just maybe, I will be able to make a difference that will one day save other children.  I'm thrilled to get started and I can't wait to see all of the good things that this passionate and talented group of moms will accomplish in the next 12 months!

Welcome New Readers!

With the announcement of the 2013 Consumer Task Force on Newborn Screening, there may be some new readers visiting this blog.  Therefore, I wanted to take this opportunity to warmly welcome you to this space.  I hope you visit often and share your own stories.  It is my sincerest hope that this blog will become a resource and refuge for other families who are traveling the same road that we are.  I also want to give you a little bit of background on our journey as a family with an MCADD child and the reasoning behind starting this blog. 

We found out shortly after the birth of our second child that his newborn screening had come back positive for the genetic, metabolic condition called MCADD (Medium Chain Acyl co-A Dehydrogenase Deficiency).  We were literally sitting around our kitchen table eating cake and ice cream with all of the relatives who had come to welcome our new baby when our pediatrician called us with the news.  In the euphoria (and exhaustion) on our first night home from the hospital with our seemingly perfectly healthy baby, we were confronted with a diagnosis that honestly seemed pretty frightening.  I still remember the panic I felt as I heard my husband asking the doctor if our son would be able to live a long, normal and healthy life.  If he would be OK.  I also remember feeling somewhat defiant -- couldn't they see that I was holding an absolutely perfect baby in my arms?  He didn't look sick in the least bit and if anyone was going to tell us that he was anything less than perfect, they'd have to go through me first (perfectly normal, post-partum emotions talking here).

Thankfully, we were quickly educated about MCADD by both our pediatrician (who was familiar with metabolic conditions, but learning more about them alongside our family since our son was/is his first patient with MCADD) and some incredible genetic and metabolic specialists at Children's Hospital.  We learned that he was going to be OK.  He didn't need a special diet.  He wouldn't need any invasive procedures (other than some blood draws that he slept right through).  He was going to be able to grow up and be a perfectly normal kid...most of the time.  The only exceptions to that would be:

1. we needed to carefully monitor his food intake through his first year of life and delay letting him sleep through the night until his metabolism can withstand going that long without a meal
2. once he is able to sleep through the night, he will need a hearty bedtime snack (something we weren't doing with our older son, but really the only thing different diet-wise for our MCADD kid than any typical toddler or child)
3. throughout his life, he will never be permitted to "fast" (skip meals) because this can lead to serious health complications much more quickly in people with MCADD
4. we will always need to be very careful when he gets sick (notice I say "when" he gets sick and not "if" he gets sick because, let's face it, ALL kids get sick) because his doctors will have a very low threshold for just admitting him to the hospital for IV fluids and observation to ensure his well-being and prevent metabolic crisis

My husband and I quickly realized that this diagnosis was not something to fear; it was exactly the opposite.  It was a blessing! Everyone involved with his care for the rest of his life was going to know exactly how to keep him safe and healthy because they know that he has MCADD and his metabolism works a little differently than the ordinary person's does.  The diagnosis would save his life at some point because instead of trying to weather the flu on our couch with a cup of Pedialyte and everyone wondering why he was getting sicker instead of better, he would be in the hospital getting essential IV fluids that his body needs and he would never be permitted to get so sick that he would go into crisis. Before they started screening for disorders like MCADD as part of the newborn screening program, kids would die from this disorder.  Not our son.  He is going to be fine because everyone knows how his body works differently and can factor that knowledge into his care.  He is going to be fine -- hooray!

I am an optimist by nature and, as a mother of a child with a metabolic disorder, I know firsthand how difficult it can be to read some of the stuff out there on the internet about medical conditions like MCADD.  When you Google "MCADD" you often get scary statistics about how many of these kids perish or you get memorial sites for those families who are in mourning.The reality is that states haven't been screening for disorders like MCADD for very long and tragically, before they started screening for it, many people lost their children.  It is tremendously sad for me to think that something so treatable could have taken the lives of so many children.  If only the screening program could have included this disorder sooner.  If only these parents knew that keeping their kid safe was as easy as feeding them regularly, giving them a bedtime snack and getting them some IV assistance when they were ill.  It's no one's fault that these things didn't happen, but it still isn't easy to imagine life before MCADD screening.  

Thankfully, we were educated about MCADD before we had a chance to start Googling it (a practice I now discourage for any medical condition).  Although initially disappointed by the alarming nature of what Google produces for MCADD I have come to realize two things.  First, that the statistics are important for decision-makers to understand what is at stake.  Having those statistics out there will ensure that MCADD remains part of the newborn screening panel and, as more disorders like it are identified, ensure that they too are rapidly incorporated into the screening panels as an easy way to keep these kiddos safe.  There is nothing more important than that.  Second, that the memorial sites are an important component of the grieving process for families that have lost children.  My heart goes out to these families and I wish them an abundance of comfort in any and all forms that it may take. 

Which brings me to the reason I started this blog.  I wanted a place where families affected by MCADD could find a more balanced, non-alarmist, realistic perspective on the day-to-day experience of caring for a child with this condition.  Something that would be more positive.  Somewhere that we could form a community and support one another.  Something that hopefully would be found by that next set of parents who are coming to grips with an MCADD diagnosis that would help them realize that they don't have to be afraid and that they don't have to be defined by the diagnosis.  We have a child with MCADD and he's doing just fine!  With a few easy measures, your child will be fine, too!

Please realize that I am NOT a medical professional.  I am a college-educated, working mother of two young boys.  The information that I share here is based on what our doctors and specialists are instructing us to do and what has worked for our family.  Your doctors may tell you something different and your family may make different decisions based on your own personal values, beliefs and desires.  I welcome you to participate in this community and share your thoughts and experiences, no matter how different they may be.  When we share information with one another in an open-minded way, everyone is strengthened by the knowledge. 

Thus far, this blog has been a way to update family and friends on the things we are learning about MCADD.  In the coming months, I will be concentrating on expanding the information and resources provided here in an effort to make this site a more complete resource for families like ours.  I hope that you will become a regular reader (and commenter!).  Thanks for visiting!

2013 Consumer Task Force on Newborn Screening

I am very excited to announce that I have been selected to serve on a national task force on newborn screening! I applied at the end of October and found out last week that I was picked. I get to spend the next year learning more about newborn screening and developing a project to expand information and awareness about the newborn screening system. Most importantly, I get to travel to Washington, DC in May to talk to the Secretary of Health and Human Services Advisory Panel on Heritable Disorders in Newborns and Children to advocate for the infant screening system. What an honor! I hope that my participation helps other families in our situation.