Hi There!

 

Yet another smile from a healthy and happy little boy.

 

Yet another day that we are thankful for the newborn screening that saved his life! 

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!

Eleven Months

Here are some pictures of our very busy 11-month-old boy! The sign for this month was pretty much obliterated in the first 30 seconds of picture-taking. He has discovered that crumpling paper is lots of fun.

In the last month, we have hit some major milestones including standing and walking. He is, in fact, quite proficient at walking already since he started experimenting in earnest with it about 3 weeks ago.

 

 

There are also some new teeth to brag about. He has six now -- four on top and two on bottom -- which is excellent because he has completely sworn off baby food and only wants to eat food that he can mash between his teeth. He also thoroughly enjoys brushing his teeth, or at least chewing on the toothbrush.

 

 

We're starting to see much more of his personality, too. He is definitely an easy-going kid and he can sit for long stretches of time playing with toys and trying to figure out how things work. I'm always amazed at how kids learn by doing -- this ball fits inside this box, but Mommy's shoe doesn't; when I drop this toy from my highchair it makes lots of noise; when I try to eat the dogfood, Mommy comes running; etc.

 

 

Health-wise, it has been a great month. We have managed to stay healthy and avoid hospitals and doctors offices.  LB is still taking a daily probiotic supplement that I really think is helping him ward off the stomach bugs which so many of my friends are still battling with their kiddos. We're also still on a sort of self-imposed house arrest and have been avoiding crowds and otherwise germy places as much as we can so I'm sure that's helping us stay healthy, too.

 

 

We're curious what the next month will bring, especially considering that we are approaching the one-year mark where we will likely be switching off formula and onto milk, but he is still drinking quite a bit of formula daily (and jotting down ounces of formula is one of the easiest ways for us to track his food intake). We'll also be transitioning away from bottles, but again, he's still drinking a lot of bottles, especially at bedtime and during the night. I'm sure the metabolic clinic and our pediatrician will have lots of good advice for us when we visit them next month.

 

 

In the meantime, we are just as thrilled as can be with our handsome and happy little boy.





Tracking Food Intake and Transitioning to the Next Stage

We have a notebook that lives on our kitchen counter.  It is filled with dates and times and ounces.  We know and have recorded every ounce of formula that LB has eaten ever since he was born. They pretty much make you keep track of feeding times (and dirty diapers) in the hospital and considering we found out about his MCADD on our first night home from the hospital, we never stopped tracking his feedings.  For awhile, we were writing them on a white board in our kitchen, but after a bunch of traveling this summer (sans whiteboard), we shifted to the notebook method. 

At times, I've felt like this is a bit over the top and that maybe we were being too rigid, but we also felt like it was important for us to track his food intake like this so that we could know for certain if he was falling below that "rule of thirds" (where the metabolic specialists say that eating one third less than he normally does in a day could indicate the onset of a problem).  When illness strikes, one quick look at the trusty notebook and it is very easy to tell his specialists that he typically eats 30 ounces per day and today he's only eaten 18, as opposed to wracking our brain and trying to piece it together during an already stressful time. 

Now, I fear that we've become a little too accustomed to it.  With the end of formula and bottles and easily measured food intake on the horizon, losing the notebook method has me a bit apprehensive.  Granted, we do not track his solid food consumption in the notebook, but we still have a sense of his intake for the day by tracking his formula intake.  Without that, will we know when he's not eating enough?  Anyone have any good advice for navigating this transition?

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!

Processing the Last Few Weeks

Wow, what a month!  Due to an unprecedented number of viruses "going around" and the fact that so many people were out and about during the holiday season, our family got crushed with illness this last month.  I was sick with a cold/allergies, Husband had a cold and both boys had two bouts of stomach illness.  There were a lot of families that were going through the same thing that we were.  Practically everyone that I've spoken with in recent weeks has had a horror story of sick kids, sick kids at relatives houses for the holidays, sick kids on airplanes, sick kids missing breakfast with Santa...you get the idea. 

Our sick kids story was a little bit different than many other stories, though.  This is because we have a child with MCADD.  Food intake is so critical with MCADD kids, especially when they are already vulnerable because they are so young (LB was 9 months old during this spell of illness).  When they stop eating because of a tummy ache or when they lose nutrients in large quantities through diarrhea or vomiting, it is a medical emergency.  We have some methods that we can take at home to help him along, namely feeding him a glucose solution called polycose and a medicine called carnitine, but when that isn't enough, we head for the hospital so that he can have IV support to help him safely weather the illness and prevent metabolic crisis.

If LB was unaffected by MCADD, like our older son, he would have had a spot on the couch next to his big brother these last few weeks.  They would both have been drinking pedialyte, eating toast, vomiting in a bucket and waiting for the illness to run its course.  That method is just a little too risky for LB, though.  His body doesn't work the same way that his older brother's body does.  Pedialyte isn't enough to keep him hydrated and nourished during illness.  It doesn't have the sugar he needs.  It doesn't have the carnitine he needs.  His body would become hypoglycemic, his blood would become acidic and he would become very, very ill if he just sat on the couch with his big brother drinking pedialyte.  We know this thanks to the newborn screening that identified his MCADD.  His doctors know this thanks to the newborn screening that identified his MCADD.  No one takes any risks with his health. 

Every doctor we work with has said that it is safer for him to go to the hospital for IV support when he is sick than to risk him suffering a metabolic crisis which can have serious mental and physical side-effects, some of which could be irreversible.  So, when LB is sick, we call the metabolic clinic, we heed the advice of our specialists and we head for the hospital.  We stay in the hospital for a day or two until LB is eating well and no longer suffering from the vomiting and/or diarrhea that robs his body of essential nutrients.  Then, we come home.  LB goes on with his busy life of playing with toys, following his big brother around and making everyone smile.  We are so grateful that we know how to keep him safe in this manner.

Sometimes people tell me that they can't imagine how difficult it is to have to go to the hospital everytime your kid is sick.  While it is true that we have to juggle a lot of things (childcare, work, pets, household chores, meals, etc.) when we are in the hospital with LB, it is difficult to juggle all of those same things when any child is sick.  Sick kids are tough no matter if they are sitting on your couch vomiting in a bucket or sitting in a hospital room with an IV.  Sick kids are tough no matter if they have MCADD or are unaffected.  I'm slowly learning that the divide and conquer strategy of me in the hospital with LB and Husband at home with our older son is just going to be the new normal for us whenever we get this kind of illness in our family. 

In closing, we are thankful for:

1. LB, our sweet, happy baby
2. the newborn screening that identified LB's MCADD
3. the doctors and specialists who have taught us how to keep him safe
4. the hospital staff who have cared for LB during illness
5. the strong network of friends and neighbors who have supported us during his recent illnesses