Saturday, May 11, 2013

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.

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