Sunday, January 20, 2013

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!

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