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.



 

MCADD Children's Book!

Yes, you read that correctly!  There is now a children's book about MCADD available on Amazon!! - Max the Monkey Has MCADD!

Nearly a year ago, we were very stressed out and struggling to get our two-year old with MCADD to eat much of anything. Every meal was a challenge,.  Nearly all of our plates were hurled off our dining room table and broken - it was just awful! It went beyond simple two-year-old pickiness for us because we knew how important regular meals were to managing our son's MCADD. I tried reading lots of children's books I found at the library about why our bodies need good food, but was really longing for something that started a conversation with him about why his body is special and REALLY needs food. I approached Laurie Bernstein and Joanna Helm (just two of the many amazing staff members in the metabolic clinic at Children's Hospital Colorado) about writing a children's book about MCADD to help my family and others like us. They loved the idea and last spring/summer, we wrote Max the Monkey has MCADD.

We started reading the book (an early draft printed out at home and stapled together) with our son last summer just after he had turned three and it instantly made a difference. He now has words that help him understand MCADD on his level and he seems to have a much better understanding of why he needs to eat often in order to have enough energy, just like Max does in the book. Our five-year old son (unaffected) has also really benefited from the book. We no longer have the argument at bedtime about why his little brother gets a snack and he doesn't. He knows that his brother needs it because he has MCADD. Now he helps us make his brother's snack and encourages him to eat right along with my husband and me!

Fast forward to today and we have completed the publication process! Now any family can buy a book that explains MCADD in kid-friendly terms, written in engaging verse and accompanied by beautiful illustrations and yummy recipes. It can be delivered to your door in as little as one day and hopefully you can be spared the months of mealtime stress we had when we were struggling to explain a wildly complicated condition to our toddler. Words cannot express how exciting this is to me and how proud I am to have been part of this!

Thank you to Laurie, Joanna, Children's Colorado and The Gene Team who supported this project (The Gene Team bikes hundreds of miles through the Rocky Mountains every summer to raise money to support projects that help the families in the Genetics and Inherited Metabolic Diseases Clinic at Children's Hospital Colorado and beyond). The book is beautiful in so many ways and would not have been possible without you!

Please consider ordering one for your family and maybe even order an extra copy to take along to your next metabolic appointment that can be passed on to a family just receiving an MCADD diagnosis with their infant. How cool would that be if every new MCADD baby got to bring home a book!

Back at the Keyboard!

All I can say is Wow!  I can't believe I haven't blogged here in an entire year!  I have many reasons for being absent.  Some are good reasons and, unfortunately, others are just lame excuses.  For the most part, I will blame my absence squarely on the statement that my life as the working, married, home-owning, full-time Mommy of two active and healthy little boys is busy and that's a good thing. 

I have admittedly struggled a lot over the past year with determining the appropriate content and direction for this blog. The older my son gets, the more concerned I have become about his privacy (both now and as he gets old enough to want his own online identity) and the less inclined I am to talk about the details of his day-to-day life on my blog.

In so many ways, his MCADD has moved into the background with each passing year.  Yes, we are still keenly aware that he has it and we never let down our guard when he is ill or acting out-of-the-ordinary, it just doesn't consume my thoughts day-in and day-out like it used to when we were sleep-deprived and feeding him every two hours.  These days, he is really just a normal little boy doing normal little boy things -- going to school, playing sports, climbing trees and rough-housing with his big brother.  He looks and acts like all the other little boys in his class -- skinned knees, dirty fingernails, superhero t-shirts and all!  In the absence of talking about all of the cute little-boy antics and the infrequent bouts of illness (that have become FAR more manageable than they were when he was a baby), I have wondered whether I should discontinue this blog altogether or whether I should simply come up with a new angle.

The good news is that I'm writing something today so I will not be discontinuing the blog.  In all honesty, the thing that has motivated me to continue writing here is your emails.  In the past weeks and months, I have gotten dozens of emails from other MCADD Moms from around the world who have happened upon my blog and reached out to me.  Some are just saying hello. Some are asking for advice.  But I can tell that for some of them, finding this blog is something they are truly and incredibly grateful for.  It gives them hope and helps them understand that they are not alone in this journey that can seem so scary and uncertain in the early days of a diagnosis. 

I will keep writing because that hope is exactly what I was searching for more than three years ago when I first got the news that my beautiful newborn had screened positive for MCADD.  My search for hope with this curious and rare diagnosis was why I started this blog and why I will continue it. Writing here was my therapy and I hope that maybe this blog will inspire you to blog about your experience with MCADD for others to find someday, too.  Then, we can spread hope together.  In the meantime, reading here might become part of your refuge and hopefully part of our collective mission to raise happy and healthy kids (who just happen to have this really rare metabolic condition).

Please bear with me as I try to figure out how best to keep blogging while keeping my son out of the spotlight.  He really just wants to be a little boy Superman and I love being his Mommy!

When Social Media Finds the Answers to Medical Quandaries

What happens when your child has a condition so unusual that the medical community doesn't even know what it is?   What happens when genetic sequencing reveals an answer, but the medical community tells you there's no hope for further research or treatments because no one else in the world has this condition?  What happens when parents don't accept that answer? READ THIS ARTICLE.    All I can say is WOW!

New MCADD Resource

I was super excited to find this one-stop-shop resource for all things MCADD on the new Reg4All website created by Genetic Alliance.  The disease info search has a wealth of information on all the latest scientific literature and clinical trials underway for hundreds of genetic conditions.  And Reg4All is a groundbreaking new way to share medical information (however much you are comfortable sharing) in a community of researchers for the benefit of everyone with that same condition.  Check it out!

Newborn Screening Saves Lives Act Passes the House!

The Newborn Screening Saves Lives Act is making a march through Congress, finally!  The latest incarnation of the reauthorization includes some measure that will improve timeliness of screening.  It was passed by the House and is now headed to the Senate. Contact your Senator to show your support!

TIP - How MCADD Parents Can Better Work With Their Primary Care Physician

I read this interview with Dr. Beaudet from Baylor College of Medicine and was thrilled to see his comment about how well-educated the parents of children with rare disorders can be about their children's condition.  He also gives some good advice on how you can use that knowledge to work WITH your primary care physician.

It's definitely important to note that the physicians who study rare conditions like MCADD are fairly rare themselves.  Therefore, when a primary care physician caring for a child with a rare condition calls that specialist to ask a question, they are usually more than happy to have a conversation.  We should all use this advice to our advantage.