Wednesday, May 15, 2013


While I'm in DC for work this week (yep, you're counting correctly, I was out of town last week AND I'm out of town again this week), the boys enjoyed playing in our new tent.  We got it for free and so far it has been a huge hit.  I'm excited for when we can start family camping trips.  LB is starting to sleep through the night here and there, so I'm encouraged that camping trips will start feeling manageable very soon.

...and don't you just love little boys wearing superman shirts with capes?  He really is our little superman!

Sunday, May 12, 2013

Happy Mother's Day!

I wanted to take this opportunity to wish all of the MCADD Moms out there a very happy day!  Being a Mom is a tough job and I'd argue that it's just a little bit tougher for the Moms of children with metabolic disorders.  There's just a little more worry, a little more hovering, a bit more meal planning, quite a bit more medical appointments, all combined with lots of interrupted sleep.  That said, there's just as much love and, for me at least, a whole lot more gratitude.  Here's a peak at how we celebrated Mother's Day with our two wonderful boys!

We decided to go hiking as our big Mother's Day activity.  It's one of our favorite pastimes. 

Here is LB, our navigator, showing us which direction we should hike.

I might add that he got into a small disagreement with the other navigator (his shadow) on this topic.

We stopped and ate snacks. We poked sticks in the dirt. We pondered pinecones and (to Mom's horror), stuck our hands into a snake burrow (yikes!).  We picked up lots of rocks and thankfully none were swallowed.
And these two little boys were certainly the cutest ones on the trail.

Happy Mother's Day to me!  They've definitely made me earn the title, but I sure do love these little guys.  They make me oh so very happy!

Saturday, May 11, 2013

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.