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.

Any Michigan Families?

As a proud alumna of the University of Michigan, I was excited to see that they have been awarded a Challenge Grant from Genetic Alliance to do awareness work for newborn screening!  They are on a quest to catalog family stories about newborn screening for their project and if you live in Southeast Michigan, they'd love for you to participate!  Find out more here!  They need to hear from you by June 15th if you're interested.

The Challenging World of FODs

A fellow Consumer Task Force on Newborn Screening Mom recently wrote an article for CoSozo about her family's experience raising three children with MCADD.

I would love for everyone to take the time to read her article.  I really love everything she has to say!  Thanks Kelly for sharing this with the world!

In case you missed that link, here it is again -- The Challenging World of FODs.

Colorado Vaccination Legislation

Colorado House Bill 1288 was signed into law this week.  This is the update from Children's Hospital Colorado on the legislation:

Under Colorado law today, all children enrolled in licensed child care and schools (public and private) must be immunized against a series of vaccine-preventable diseases like measles and pertussis. Parents can elect to exempt their children from these requirements for medical, religious, or personal belief reasons. This bill requires schools and child care centers to disclose their immunization and exemption rates, and also directs the Public Health Department to create an online, evidence-based education module about the benefits and risks of vaccines.
 

Why it’s good for kids: Requiring schools to disclose their immunization and exemption rates will arm parents with good information about choosing the right child care center or school for their child, which is especially important for medically fragile kids who are at higher risk for vaccine preventable diseases.

Why it still needs more work: Currently, a one-time parent signature is the only requirement to elect a personal belief exemption. This bill initially included a provision that would have required parents electing a personal belief exemption to either get a medical provider’s signature or complete an online education module addressing the risks and benefits of vaccines. This requirement would help spread knowledge in our communities and ensure our children don’t get sick from preventable diseases. The hospital and a strong coalition of advocates will continue to work with parents, health experts, educators, and lawmakers to improve Colorado’s vaccine requirements. This is important policy at any time, but it is especially vital now, as Colorado is in the midst of a serious outbreak of pertussis (whooping cough).

I'm excited that by the time the law goes into effect, I will be able to know the vaccination rates of the preschool that LB will attend, but I'm with Children's Hospital on wishing the law went just a little further in requiring parents to have a documented conversation with a medical provider or view scientific information about vaccinations before putting their child (and those that come into contact with their child) at risk of vaccine preventable illness.  Maybe next year?

Editing Our Genes?

A study published in Nature Biotechnology and also described in this article from The Independent, seems very exciting for genetic disorders!

Scientists used a genome-editing technology called Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) to cure adult laboratory mice of an inherited liver disease called type 1 tyrosinemia.  This condition can be found in both animals and humans (it affects about 1 in 100,000 people and is part of newborn screening panels in some states) and is related to liver metabolism.  Affected individuals are unable to break down the amino acid tyrosine and require a special diet and medication to prevent liver, kidney and brain damage.

The CRISPR technique enables researchers to snip out a mutated piece of DNA and replace it with the correct sequence.  In this instance, the researchers were able to correct a single “letter” of the genetic alphabet which had been mutated in the gene involved in liver metabolism.  They altered the genetic make-up of about a third of the liver cells in the mice through a high pressure intravenous injection and the researchers effectively cured the mice.

The fact that this technique can be used successfully in an adult animal could lead to the ability to use the technique in humans (probably after lots of ethics committees and institutional research boards weigh in on it and, of course, oodles of clinical trials are performed).  It might be a long wait, but it sure is exciting to think about how a future gene therapy might fix the genetic defect in people with MCADD that prevents them from making the enzyme that allows them to break down medium chain fats.

Science is amazing!

Dietary Fats Explained!

While skimming through my alumni e-newsletter this weekend, I happened upon an interesting article about dietary fats.  While the main point of the article was to inform generally healthy people about the role of fats in their diet and which fats are healthy, there were some interesting facts in the article that helped me understand my son's MCADD a little bit more.

Some things that I learned:

First, I learned that fats have 4 main roles in our bodies...

1. Energy source and reserve–Fat provides 80-90 percent of the energy requirement at rest. One gram of pure lipid contains about 9 calories of energy, more than twice the energy available from carbohydrate or protein.
2. Protection of vital organs– The body’s internal fat (about 4 percent of the total) protects against trauma to vital organs like the heart, liver, kidneys, spleen, brain, and spinal cord.
3. Thermal insulation–Fat keeps us warm!
4. Vitamin carrier and hunger suppressor–Approximately 20g of daily dietary fat provides a sufficient source and transport medium for the four fat-soluble vitamins: A, D, E, and K. Severely reducing lipid intake depresses the body’s level of these vitamins and may lead to a deficiency.

Although we aren't on a low-fat diet, #4 on the list makes me wonder whether MCADD kids on the low-fat diet may have vitamin deficiencies as a result of not having enough fat to transport vitamins and fully reap their benefits?

Second, I learned that fatty acids have a chain length categorized as short to very long.  This becomes important since the different chain lengths undergo different metabolic fates.  Short-chain and medium-chain fatty acids are quickly available for use as energy. Long-chain fatty acids, in contrast, undergo more complex processes and are deposited as fat in the liver and other body fat cells. Thus, the short- and medium-chain fatty acids often are considered “good” fats since they are easily metabolized and don’t necessarily contribute to fatty livers.

The four different types of fatty acids include: 

1. Short-chain fatty acids = <6 carbons. These are typically found in butter and some tropical fats.
2. Medium-chain fatty acids = 6-12 carbons.  You’ll find these in coconut oil, palm kernel oil, and breast milk.
3. Long-chain fatty acids = 13-21 carbons. These are found in animal, fish, cocoa, seeds, nuts, and vegetable oils. (Chain lengths of 16-18 carbons are most common)
4. Very-long-chain fatty acids = >22 carbons. Examples include omega-3 and omega-6 fatty acids found in fatty fish (omega-3) and some processed vegetable oils

This explains the common information in the MCADD community about avoiding coconut oil and avocado, the only food regularly mentioned to be high in medium chain fats.

Anyway, if you're interested in a deeper dive into fats, I'd encourage you to read the article and, of course, GO BLUE!

To Immunize or Not to Immunize - Part 3

When I talk to people who choose not to vaccinate, one of the things they often cite as a reason for their decision is that they don't want to risk their child having an adverse reaction to the vaccination.  The CDC has one more infographic that puts the risk of vaccine reactioin.  Did you know that your child is far more likely to be struck by lightning, be a member of the U.S. Olympic team or get elected to Congress than have a vaccine reaction?

To Immunize or Not to Immunize - Part 2

As I mentioned yesterday, our entire family gets regular immunizations.  I should also mention that, without us even asking, our extended families and our child care provider have also been receiving annual flu shots and other vaccine boosters before they come into contact with our children.  Everyone knows what illness can lead to for LB and the stress that a hospitalization can place on our family.  We sincerely appreciate their decision to protect our family by immunizing themselves.  This is the concept of "herd immunity" -- protecting the weakest members of a community by immunizing those with whom they come into contact.  It is how vaccination works!  

This graphic from the Centers for Disease Control helps put into perspective the risks of NOT vaccinating your child.  Not only could your child get sick, they could also put those around them at risk.  Those around them could possibly include children or adults who cannot be immunized for authentic, medical reasons and who rely on herd immunity to keep them safe.

While all families will choose what is best for them, I urge parents to 1) consult trusted, peer-reviewed resources about vaccinations and 2) talk to your pediatrician about vaccinations before making a decision.

To Immunize or Not to Immunize - Part 1

Immunizations have been a hot topic in Colorado lately due to pending state legislation (Colorado House Bill 1288) that would tighten the rules for how parents exercise the "personal belief" exemption from immunizing their children. 

When it comes to vaccinations, our family is all in.  We fully immunized our oldest son according to the standard schedule from the American Academy of Pediatrics and he has never had so much as a fever from a vaccine.  He has also been a really healthy kid, in general and does not have MCADD.  We felt that immunizations for our MCADD kid were even more important and he has also been fully immunized according to schedule.  Since entering our parenting years, my husband and I have been regular recipients of annual flu shots and also have gone in for the whooping cough booster shots (tdap).


I was curious whether there was any specific guidance on immunizations for children with fatty acid oxidation disorders and was pleased to find a study in the Journal Pediatrics from 2006.  The basic outcome of the study for MCADD patients was that "because patients with these disorders can become extremely ill with infections in general, but particularly with those that are associated with nausea and vomiting, it is obvious that these children should not be permitted to confront wild-type infections.  Immunizations are an essential part of the health care maintenance of this patient population."

In addition, the study asserted that "contraindications against immunizations were not found in the available infectious disease and metabolic disease databases for inborn errors of metabolism. However, there are some inborn errors with associated impaired immune functions or tendency for rapid decompensation that may require caution and close follow-up after administration of immunizations. The purpose of these follow-up evaluations is to not only monitor for metabolic decompensation but also assess for suboptimal immune responses to the vaccinations that could potentially leave these patients susceptible to major vaccine-preventable diseases."  In other words, definitely immunize, but always observe your child closely after immunizations.

Although there definitely needs to be more research to ensure that our kids are actually getting appropriate immunity from vaccinations, I take comfort in the meantime knowing that my kiddo has some degree of immunity from a vaccine.  That comfort definitely outweighs the unknown of what he might encounter from the actual virus he could contract without that immunity. I know when a vaccine is administered and what side effects to watch for.  We carefully monitor him after immunizations to make sure that he is eating and drinking well and that his system isn't stressed by fever or illness, so it is definitely a far more controlled situation than him catching a random infectious disease, which I think we can all agree that we dread!!

Privacy Versus Poster Child

From the very beginning of our MCADD journey and my subsequent quest to increase awareness of newborn screening and metabolic conditions through this blog and elsewhere, I've been very careful to keep our son's name private.  He didn't ask for this and he's too young to tell us that he wants to be an advocate for it.  For all we know, he might want to live his life with a metabolic condition quietly and out of the spotlight, so who am I to make him a poster child without his permission.

A recent blog post from a fellow Consumer Task Force on Newborn Screening Mom renewed my commitment to privacy for our son.  Amanda's son is older than our LB and her experience gives me a preview of what young adulthood may be like for our son if every detail of his medical odyssey is chronicled for everyone in his school or soccer team or scout troop to Google.  Like Amanda, I hope to continue to share relevant general information about MCADD on this site, but my son will remain out of the spotlight until such time as he can make that choice on his own.

I encourage you to read Amanda's incredible post about her poster child growing up.  She is a beautiful person who is deeply thoughtful and generous, not to mention an incredible writer.

TIP - Medical Alert Bracelet

LB's metabolic physicians have recommended that he wear a medic alert bracelet nearly since his diagnosis (at 3 days old when a car seat sticker is about as good as you can do in the medic alert department), but we honestly had trouble finding something that was appropriate for a little kid for a very long time.  Always wanting to be prepared for a situation where others need to be aware of LB's medical condition and when we may not be able to speak on his behalf, we kept looking and ended up settling on something that I have used for a long time as a marathon runner and triathlete (don't be too impressed, I haven't done much training in ages, but it was a fun hobby pre-kids)  -- Road ID!  Although they are made primarily for athletes, the selection and sizing has been great for our purposes, too.

There are a couple options that work well for little kids and there are a lot of options for older kids and adults:

Option 1 - A Shoe ID - you just Velcro it onto their shoe and you don't have to worry about it irritating their wrist or being much of a distraction to them.  Hopefully they manage to keep their shoes on, but not a bad option for a toddler all things considered.

Option 2 - A Wrist ID Slim - it's made out of silicone and resembles the bracelets that a lot of people wear for fun, but it is available in sizes as small as 5" to fit the wrist of a toddler.

The laser-engraved tags can be modular with different items and larger sizes of bracelets as your child grows.  You can also order just the tag and not the whole bracelet/shoe clip/etc. for times when your emergency contact information might need to be tweaked, but the bracelet/shoe clip/etc. is still in fine shape.  I actually still have my original shoe ID Velcro bit even though I have ordered at least 3 new tags as I've moved from place to place.

The metabolic clinic suggested that the bracelet read - "Metabolic Disorder, MCADD, Needs Glucose, Metabolic Dr. On-Call ###-###-####" and we got the color red to make sure it was very visible.

The best news of all?  They are having a HUGE SALE THIS WEEK!  If you're wanting to check this important item off your to-do list, there's no time like today!

Happy Birthday LB!

Guess who turned two??

 

 

LB did!! (see how excited he is for birthday cake?)

 

 

And here he is digging into his presents.  He got a great set of tools, some new books, a ball and mitt and bongo drums!

 

Over the weekend, we had his friends over to celebrate with us.  We had a wild idea for a digging in the dirt party and we waited until the last minute to send out the invitations because we weren't sure the weather would cooperate.

 

Lo and behold, we had a beautiful day for an outdoor party, so the construction site was erected!  Some cones, a big tarp and five bags of topsoil (that we were going to need to add to our garden anyway this season) later, we had a party!

 

 

The cupcakes were chocolate/chocolate and topped with crushed Oreos to look like dirt and all the kids were issued a cupcake and a construction hat before getting turned loose in the dirt pile.

 

They dug and played with gusto.

 

And I'm happy to report that there wasn't any dirt throwing or dirt eating to speak of.

 

And most of the dirt stayed on the tarp, too.

 

He got some fun presents from his friends - a Star Wars t-shirt, lots of cool bubble wands, a set of golf clubs, some books and a John Deere Tractor.

 

After a couple hours, kids started to head home by way of the wash station...

 

...and our boys spent the rest of the evening playing in the dirt and helping us put away the party stuff (LB spent a lot of time climbing on the coolers).

 

What a great way to celebrate a great two-year-old!  Happy Birthday LB - we had a great year!!!

Newborn Screening Saves Lives Act - UPDATE!!

This afternoon, the House Energy & Commerce committee passed H.R. 1281, the Newborn Screening Saves Lives Reauthorization Act of 2014.  It has strong bi-partisan support and is now one step closer to being signed into law!  Next steps are a vote by the full House of Representative and a vote by the full Senate before it ends up on the President's desk for signature. 

Read more details about the bill in the Milwaukee Journal Sentinel.

And kudos to APHL, the March of Dimes and the Milwaukee Journal Sentinel, among countless others who have been advocating tirelessly to reauthorize the Newborn Screening Saves Lives Act.  The work you are doing will help newborn screening continue to save lives.  THANK YOU!

Sick Day

We've been really fortunate to stay so healthy this last year.  Other than a mild cold that worked its way through the family in the fall, we haven't had any illness to speak of since LB's string of hospital stays last year around the holidays.  Unfortunately, our luck ran out this week when LB came down with a mild stomach bug. 

 

He woke up around 4 a.m. on Wednesday morning with a stinky, leaky diaper and after we got him (and his bed) all cleaned up, we immediately launched into his sick day protocol of hourly calorie-rich polycose mixed in Pedialyte and carnitine supplements.  Not sure where this illness would land us and for how long, both my husband and I stayed home with him on Wednesday. We packed a hospital bag expecting to end up there at some point that day, but after being in touch with his specialists throughout the day and carefully monitoring his intake, we were pleasantly surprised to be permitted to weather this illness at home.  They said things would get easier as he got older and although it was pretty stressful to stay on top of his feeding regimen, we were super excited to be able to manage him at home for once.

 

By Thursday, he was doing a lot better, but he still wasn't ready to go back to the sitter. I had some out of town guests visiting the office for a meeting, so my husband took sick day duty with LB.  They had a good day and he continued to keep his intake within the guidelines, so all was well.

 

By Friday, he was still doing fine, but we wanted to keep him home one more day and through the weekend to be doubly sure he was going to stay on track.  I stayed home with him today and we had tons of fun.

 

Pretty much as soon as my husband and our older son closed the garage door to head to work and preschool, LB wanted to wear his big brother's Iron Man costume. 

 

 

Then, he wanted to paint.

 

Then he wanted to play outside.

 

I could get used to this staying home with the kiddos thing.  I had a blast!  I think LB was a little tuckered out, though.  Shortly after this photo, he went down for a much deserved nap.

 

We're very grateful that he got well so quickly and managed to stay out of the hospital.  It DOES get easier!!

Snack Time!

 

Cheese and Crackers!

Award-Winning!

The Milwaukee Journal Sentinel's investigative report about newborn screening timeliness has won the prestigious Selden Ring award for the top piece of investigative reporting for the year!  Although I'm definitely biased because our family was featured in the story, I think this series was profoundly important and well-deserving of all accolades that it receives.  I spent nearly six months talking to the reporters and was able to witness first-hand how much work went into telling this story.  The video on their article from last week about the win, also describes the reporting process. 

Grateful for Sleep!

I've been sitting on this blog post for awhile, almost afraid to post it because I don't want to jinx the unqualified success of LB's transition to the big boy bed.  Now that it has been nearly 3 months and he's still sleeping through the night -- yes you read that right -- HE IS SLEEPING THROUGH THE NIGHT!!!! -- I thought it would be safe to post this.

Just two nights before Thanksgiving, LB figured out how to climb out of his crib.  He was 20 months old at the time, a few months younger than when his big brother accomplished this feat, but in our house, once the baby can climb out of the crib, the big boy bed becomes a necessity.  I'd rather throw some pillows on the floor next to the twin bed than have any crib-climbing related injuries on my conscience.

We weren't exactly prepared for this to happen so quickly, but we decided to roll with it.  Thankfully, we already had the twin bed and mattress he would be using.  We just needed to move that into his room, do some rearranging and get him a new dresser.  The process started first thing in the morning.

LB was pretty excited about the whole thing, especially the disassembly of his crib... 

He helped us carry the crib pieces out of his room.

He cuddled up with his big brother for a little snuggling on his new mattress.

And he was the first one to climb into his bed once the new sheets were on (I wanted to decorate his room in a sports theme and I hit the jackpot when I got the very last set of twin-sized flannel sports sheets at Kohl's).

He immediately snuggled onto his pillow and smiled. 

That night, we put him to bed and he did great.  He was anxious to sleep in his new bed and he slept all night long. Didn't wake up once and didn't get out of bed at all.  I woke up refreshed and rested and only a little bit nervous about how long he had slept (11 hours, which is totally within his 10-12 hour limit).  He has proceeded to sleep through the night just about every night since. 

Sometimes he'll stir at night and yell out for me.  I'll go in and untangle him from his sheets or re-tuck him in and he'll drift right back to sleep.  Usually, he says "thank you, Mommy" when I do.  Most nights, he just sleeps, though.  It's incredible. 

We've waited nearly two years for this to happen and now that it has, I feel like we've reached another milestone in our MCADD journey.  It is nice to know that he's getting a good night of rest because I know his body needs it.  It's nice to be able to put him to sleep and not worry about sleeping through a feeding alarm because I'm so tired that my body won't listen to them anymore.  The whole family is getting rest and we are one happy household now that we are meeting our sleep quotient.  We're even making up for the lost sleep of the last two years.  Hooray!!

Guest Lecture

I have always been profoundly grateful for what newborn screening has given our family (the ability to know our son, the ability to see him grow up healthy and the information to keep him safe, among other things).  In many ways, I feel like I owe this enormous debt of gratitude back to the universe for the gift that LB has been to our family.  Whenever I am presented with an opportunity to help raise awareness about newborn screening or about MCADD, I always say yes.  It is my way of saying thank you to everyone throughout the years and from across the world who have brought newborn screening to the level it exists at today. 

Tonight was yet another joyful payment on that debt of gratitude.  I was given the opportunity to talk to a public health genetics class at the University of Colorado.  It is a graduate level class which has been looking at newborn screening from a systems perspective and I was asked to provide a family perspective on screening -- what I knew about screening before, what emotions I had when we were told our son had an abnormal screen, finding out his diagnosis, learning to live with MCADD and how it has affected our lives.  The quick answers to these questions are as follows:

• I knew nothing about newborn screening until we got the phone call saying our youngest son's screening was abnormal.  I didn't even realize our older son had been screened until the lab looked up his results from 2 years earlier and told us he was ok.
• I covered just about every emotion in the book in the first 24 hours after getting that phone call.  I was confused, scared, sad and grateful all at the same time.  I eventually landed on being grateful pretty much all the time. 
• Learning he had MCADD was not what we wanted to hear, but we have accepted that this is who he is and have embraced the opportunity to care for him because we are cognizant of the fact that families didn't used to be so lucky.  The information we gained through newborn screening saves his life each and every day because we know he needs to eat frequently and we have to be extra cautious when he is sick.
• Living with MCADD was pretty challenging in LB's first year mainly because everything is a little more challenging when you're running on so little sleep.  As he grew and required less frequent feedings and as he has started sleeping through the night, we're finding that our ability to cope with common stressors has greatly improved.  Sleep does a weary mommy's body good!
• MCADD has affected our lives in a mainly positive way.  Sure, we'd rather he didn't have it, but we can't change the fact that he does.  All we can do is follow his doctor's guidelines (which we've found aren't all that hard), love him like crazy and appreciate each and every day we get to spend with him. 

The students in the class were wonderful.  They asked great questions and I left feeling grateful for the opportunity to give them a glimpse of what families experience in newborn screening.  I hope that they will remember my presentation when they are contributing to and/or managing screening programs in the future.  In addition, I hope that they will continue to raise the bar for improving and expanding not only screening programs, but also the emotional support that these programs should provide to families traveling this road. 

Playtime with LB

As we were getting ready for baths tonight, LB was playing in the bathroom sink with Thomas the Train.  He was driving Thomas around the lip of the sink and saying "Hello Thomas! Go Thomas!".  Then the train would slide into the sink and he would say "Uh-oh! Thomas in hole! Help Thomas!"  Then, his toothbrush would appear to scoop him out of the sink and he would say "Toothbrush SAVE Thomas!  Yay toothbrush!"

It was incredibly cute.  The same scene also played out with the bottle of handsoap saving Thomas - "Soap SAVE Thomas!  Yay Soap!"

Proof that kids don't really need that many toys in order to have fun.  It's pretty cool how he's already starting to use his imagination. 

LB Speak

LB is talking up a storm lately.  I've heard of kids with MCADD having speech delays, but this definitely hasn't been the case with him.  He's saying new things every day and is surprisingly understandable, even to people who don't spend much time with him.  He's getting so good at talking, in fact, that he's starting to create his own words.  For example:

M'uice (a portmanteau of More and Juice)
Pronounced:  Moose
Used in a sentence:  "Mommy, M'uice please!"

Y'o (a portmanteau of Yes and No) and sometimes N'yes
Pronounced:  Yo and Ni-yes
Used in a sentence:  Although he was cold, he was definitely having a lot of fun playing in the snow.  When I asked LB if he was ready to go inside, he was torn about how to answer, so he told me "Y'o." ("N'yes")

My favorite thing that he says (which he said for the very first time tonight as I was tucking him into bed) is "I love you Mommy."

An Ordinary Day

Watching Curious George.

 

 

Smiling for the camera.

 

Eating popcorn and watching Planes while Daddy watches the AFC Championship game.

Vacuum Cleaning Robots and Cute Little Boys

My husband (aka the best husband in the WORLD!), got me a vacuum cleaning robot for Christmas.  It has been the most wonderful gift because in addition to never having to vacuum ever again, I have suddenly realized that I have at least an hour more of free time each week.  Instead of lugging the vacuum through all three floors of the house at least twice a week (we have a dog and a cat and anything less than that has the whole family walking around covered in fur), I can work on my hobbies, squeeze in a workout, relax with a good book or (what I've been doing a little too much lately) following my little robot around while giggling and drinking a glass of wine. 

I have been running my vacuuming robot nearly daily since I got her, but I realized today that she's usually only vacuuming when the boys aren't around (when I'm working from home or after the boys go to bed).  Since this week was extra busy, I had forgotten to run her for a few days and I decided a Saturday was as good a day as any to put the robot to work.  I set her up to clean the upstairs pretty much as soon as the boys got up in the morning since they hardly ever play upstairs during the day.

We went about our day and I forgot that she had been cleaning upstairs until it was time for bed and the boys found her sitting in her charging base.  LB was attracted to the glowing green "CLEAN" button on her middle and he decided to push it.  She gives a little chime once her button is pushed and he thought that was pretty funny, so he kept pushing the button to hear it again and again.  When he got tired of pushing the button, he stepped away and since she was in the "ON" position at this point, she proceeded to back out of her docking station, spin around and start to vacuum.  This scared him to death!  He started wailing immediately, but was paralyzed in place, unable to run away from her.  I obviously went to rescue him, turned off the robot and he decided that he didn't want to push the button any more.

Then, his big brother appeared and was also attracted to the glowing green "CLEAN" button.  He pushed it and smiled as it started zooming around the room, already grilling me in only the way a preschooler can about what it was doing and how it was doing it and why it was doing it.  LB meanwhile made a beeline for the closet, yelling "Mommy, HIDE!!"

I went into the closet with him where he was alternating between crying and yelling - "Brother stop push buttons!" and "No push buttons!"

We turned off the robot and reassured LB that she wouldn't do any more vacuuming tonight.  Then, he proceeded to grab her virtual wall (it's a little do-dad that lets you break up large areas of the house to tell her where to stop cleaning) and throw it down the stairs where it sprang open and spilled the batteries into the foyer. 

I guess I'll continue to vacuum with LB isn't around.  His older brother meanwhile is begging me to take the robot to show and tell.  =)

Talking About Timeliness

I had the opportunity to talk to the Secretary's Discretional Advisory Committee on Heritable Disorders in Newborns and Children today in an effort to continue advocating for timely newborn screening and follow-up.  It was the most important two minutes of my day, probably my whole week.  Here are my remarks:

Thank you.  I’m here to share with you what timely screening and follow-up has meant to my family.

Our son was born on a Tuesday morning after a healthy and uneventful pregnancy.  We were discharged from the hospital on a Friday afternoon when he was three days old.  As far as we knew, he was a perfectly healthy little boy.  We received a call from our pediatrician later that evening as we were getting our son ready for bed telling us that his newborn screening was “off the charts” for MCADD.

It didn’t take us long to realize how fortunate we were to have received our son’s results so quickly, before he was allowed to sleep for too long and risk serious health consequences.  Thanks to his rapid newborn screening, we had information that was saving his life and it was as simple as setting an alarm, waking him up and feeding him.  If only every family were so lucky. 

Our story was included in the recent Milwaukee Journal-Sentinel feature on newborn screening.  We were a happy story amid the stories of too many other families who did not receive this life-saving information about their babies until it was too late. 

I urge this committee to fix these issues that are endangering babies across the country.  In particular, I am advocating for:

·         Improved education for hospitals about the dangers of batching samples,

·         Mandated use of courier services to ensure that samples make it to the labs in a timely and traceable manner even on weekends and holidays, and

·         Assistance for state laboratories to help them identify any technologies or resources that will allow them to process samples 7 days a week because babies are born each and every day and days matter.  

I’m proud to say that our son is now a happy, active 22-month old thanks to newborn screening.  We have cheered his first smiles, first steps, first words and every milestone has been celebrated with an extra measure of gratitude.  For although every child is a blessing and a joy beyond words, our son gives us a little extra reason to know we have been blessed. 

From the bottom of my heart, THANK YOU for all you have done to advance newborn screening.  Thank you for giving us the opportunity to know our son and for the knowledge to keep him healthy each and every day.  Newborn screening saves lives.  All families deserve a happy newborn screening story like ours and the action of this committee to ensure timely screening and follow-up is crucial to achieving that goal.

Thank you for your time and consideration.

Prenatal and Newborn Screening Timeline

During my tenure on the 2013 Consumer Task Force on Newborn Screening, I had the opportunity to dream up a project that would help educate my community about newborn screening.  This project was supported through Baby's First Test by grant number UA8HP11070 from the Bureau of Health Professionals, Health Resources and Services Administration, U.S. Department of Health and Human Services.

The goal of my project was to develop a resource about newborn screening that could be used to educate expectant mothers about this life-saving test during pregnancy.  Right now, the vast majority of newborn screening education occurs in the hospital during the actual screening test, which takes place 24-48 hours after a baby is born.  As any new mother can attest, 24-48 hours after giving birth is a very busy time and certainly not the best time to adequately convey anything beyond the most basic information about newborn screening. 

With this project, I was hoping to give prenatal care providers (Obstetricians, Gynecologists, Midwives, etc.) a piece of literature that was relevant to their patients during pregnancy and introduced the topic of newborn screening at a less chaotic time.  After all, prenatal care proviers have 9 months of appointments with their patients, while the lab tech who performs the newborn screening usually only has a few minutes.  Thus, the idea to marry prenatal screening tests with newborn screening was born!

After months of work with some incredibly creative and talented design students at  Metropolitan State University of Denver, my prenatal and newborn screening timeline was developed.  It is a two-sided, tri-fold pamphlet that I hope many prenatal care providers will pass out during their initial appointments with expectant mothers.  It provides a checklist for pregnant women to navigate the various prenatal testing and includes the American Congress of Obstetrics and Gynecologists recommendations for what week of pregnancy certain tests can be expected to be performed. The newborn screening information is covered on the inside of the pamphlet along with a link to the Baby's First Test website for more information.  There is also a space for important contacts and appointment notes to be jotted down and I hope that lots of people will think to hang this on their refrigerator or bulletin board to refer to throughout pregnancy. 

If you or anyone you know would like a PDF of this literature, it can be downloaded from many places including the Baby's First Test website and the NewSTEPS website.  Please be sure to do a test print before setting your printer up for multiple copies. You might need to adjust the printing preferences to flip the pages on the short edge since the adobe default is to flip the pages on the long edge.

Happy New Year!

What better way to start a new year than with a new year's hike for the whole family!

 

 

yes, the dog even got to come along.