Wednesday, December 18, 2013

Making a Difference!

As I mentioned last month, our family's newborn screening story was featured in a medical feature piece on the importance of timely newborn screening.  It's always hard for me to put my family out in the spotlight and trust me there were MANY conversations between my husband and I about whether we should allow journalists into our home and into our life.  In the end, we wanted to make sure that people know that newborn screening works and can be life-saving.  Our desire to raise awareness outweighed our desire for privacy, so we went ahead with the story.

Even though our story was the happy one, it was still a very difficult article to read and the video brought tears to my eyes every single time I watched it.  The pain of the other family and for every family that has suffered due to delayed screening is palatable.  It is hard to think about how easily our story could have been the same as theirs if only one aspect of his newborn screening had been delayed.  Thankfully, our hospital sent our son's screening card to the lab soon after it was performed, it was processed quickly at the lab and we were notified immediately with instructions on how to care for him through the night to keep him safe.  Every child and every family deserves the happy story.  Every child and every family deserves to have the peace of mind knowing that there are guidelines and best practices in place at every hospital and every laboratory that will make this happy story possible.

I was THRILLED when I read the Journal's follow-up story.  The Senate's health committee is talking about newborn screening and they are moving to reauthorize the Newborn Screening Saves Lives Act while also making some important changes to address the timeliness issues identified in the Journal Sentinel articles from last month!!  Telling our story, along with the many other families who were brave enough to share their stories with the Journal Sentinel reporters, is making a difference!



Thursday, November 28, 2013

A Thankful Thursday

If you had asked me a year ago about gratitude, I would have gushed about our newborn screening story and how thankful I was that LB's metabolic condition was detected quickly.  About how we were notified immediately, before he was ever in any danger.

I would have told you about the nursing assistant in the hospital who urged me to put some drops of formula on my breast to encourage LB to nurse during those early days when my milk was not yet in.  About how I was certain that repeating this practice during each and every nursing session in his first few days of life contributed to him being able to remain adequately nourished before we knew about his MCADD.

I also would have told you about our pediatrician who, after hanging up the phone with the newborn screening coordinator who notified him of LB's presumptive positive for MCADD, was literally driving to our house so that if we didn't answer the phone, he could knock on out door and personally give us the instructions to wake and feed him every two hours to keep him healthy through the night.  This same pediatrician gave us his home phone number so that we could always get in touch with him quickly and has been the most wonderful partner in LB's care ever since.

I definitely would have told you how grateful I was that I could hold my son in my arms and see him reach milestones and see him smile at his mommy, daddy and big brother.  I would have told you how everyone in our families offers prayers of thanks for his life and for those who contributed to saving his life.

Although I am most certainly still grateful beyond words for all of that, I am amazed at how my gratitude for newborn screening continues to grow.  I have met some incredible people in the last year.  Some of these incredible people studied public health and genetics and science and now work day in and day out to save babies lives as a part of their job. I learn from them every time I talk to them and I have a tremendous amount of respect for the work that they do.

I have also met other incredible people who have walked a similar road to mine, as concerned parents learning about the wonders of newborn screening only after it touched their lives in some way.  Some of these parents have healthy children like our LB, who only require just a little more loving care and attentiveness than any other child.  Some of them are mourning children that they have lost due to delays in testing or the absence of a test for a particular condition in a particular state. Still others of them have children that are fighting for their life every day with conditions detected too late or conditions that don't have a complete cure.  We are all a little different, yet all of us have united in a singular mission to increase awareness of the lifesaving and life-altering gift of newborn screening.  Meeting these other moms has given me both camaraderie and strength.  Knowing them and having the ability to share our journey with one another has expanded my passion and given me a never-ending energy to keep newborn screening advocacy at the forefront of my mind.

So this year at Thanksgiving, when we go around the table to share what we are most thankful for, I will once again say that I am thankful for newborn screening because it allowed me to know my child and for us to be a family.  In my heart, I know that this statement will be shared at every Thanksgiving meal for a very long time and that it will have a deeper meaning to me each and every year.

Thank you for reading my blog and sharing this journey with us.  May you also have a happy Thanksgiving with the ones you love!

Saturday, November 23, 2013

Family Pictures

We have a wonderful photographer who does a great job of catching kids with their happiest faces.  Here are some of my favorites from our recent photo shoot where LB was especially cute for the camera...
 





Sunday, November 17, 2013

Brothers

Even though we have plenty of seats to sit in, these two always seem to want to sit in the same one.  Even though they can argue sometimes, these are the times that I know they love each other.
 
 

Saturday, November 16, 2013

A Powerful Story

I mentioned a few weeks ago that we had been working with a journalist to tell our newborn screening story.  I knew that the Milwaukee Journal Sentinel was working on something big for newborn screening, but I didn't realize exactly how big until I saw the spread in the paper tonight.  Our story is one of many stories that were researched and written over the course of more than 6 months by an incredible team of journalists. Our video made me cry and our story will run in Tuesday's paper. We are so very blessed to be the happy side of this story and we are still grateful each and every day for the newborn screening that saved our son's life.

For those of you visiting this site for the first time because of the coverage in the Milwaukee Journal Sentinel, I urge you to learn about the life-saving potential of newborn screening and support the state public health programs who oversee it. I have yet to meet a single person in public health who has anything but the best intentions to do their part in saving babies.  They do the best they can with the resources they have, yet many of them need additional resources, funding and staff to do it differently than how they are able to now. 

If you are an expectant parent, I urge you to ask your doctors about newborn screening and to thank the hospital staff who perform this very important test to ensure the health and safety of your newborn.  You might also want to check out this post for all the things I wish I knew when I was in your shoes.  There is no more important test in your baby's life than newborn screening. It gave us critical information about how to keep our precious baby safe and healthy and for that, I will always be grateful.

Saturday, October 26, 2013

One Tired Boy

We have a little boy who is starting to resist taking naps.  Unfortunately, this is what usually ends up happening.  So very, very tired!
 

Friday, October 25, 2013

Nineteen Months

 
We have lots of trees and more than our fair share of leaves.  We dedicated a good portion of this weekend to jumping in them and here is our champion leaf-jumper.  He was like the energizer bunny running from pile to pile, throwing them in the air, burying himself in them, etc.  Fall has got to be one of the funnest seasons for 19 month old!
 
And, speaking of being 19 months old, here are some of his talents:
  • We have made great strides in the food throwing department.  Took his plate away when he started throwing food and viola!  Problem solved!
  • He is talking up a storm!  We are getting multiple new words each day and he is so pleased with himself when he realizes that he is saying the right word to get what he wants.
  • He can jump -- literally feet leaving the floor jumping already.  Incredibly cute.
  • He loves sports.  If you give him a round object and a stick-like object, he can do just about anything - baseball, golf, tennis.  I predict that he's going to be our athlete.
  • He is starting to ask for specific books by name and he remembers which pictures are in which books.  He'll say "baby," go get a book off the shelf and turn to the page with the picture of the baby. 
  • He knows our routines and thrives on them.  In the morning, he gets up, gets dressed, eats breakfast and as soon as he gets out of his booster seat, he's running for the stairs saying "teeth, teeth" because he brushes his teeth upstairs after breakfast.  He also know that when I pick him up from the sitter, we head to his brother's school to pick him up.  The whole car ride, he's saying his brother's name and "school."
  • He is starting to develop favorite clothing.  He loves his fleece pajamas and often refuses to take them off in the mornings.  He also has a shirt with a gorilla on it that he will dig through his drawer to find or extract from his dirty clothes hamper and beg to wear again.
  • He still loves to snuggle, especially in the middle of the night with mommy.  He isn't eating at night very often (although we keep some boxes of shelf-safe milk in our room in case he does get hungry at night), but I think he still likes the familiar and comfortable snuggling of nighttime.  Although I never thought I'd say this during those early months when we were waking up every two hours around the clock, by the time we got to the stage where we are now where he may not wake up at night looking for you anymore, I'm realizing that I'm really going to miss those snuggly middle-of-the-night moments with him.  That was when we really bonded and I'm going to miss waking up with him now that he's big enough to sleep through the night.

Sunday, October 13, 2013

Spreading the Word

I got a phone call from a journalist back in June asking if I'd like to share our newborn screening experience as part of a medical feature piece they were doing on newborn screening.  I talked to the reporter for about an hour, sent him a few pictures and talked to him off and on throughout the summer.  A few weeks ago, he called and asked if he could send out a photographer to take some photos and video of our family that they could use for the story.  We agreed and the photojournalist came out to spend some time with us this weekend.

Although I love telling our newborn screening story because it is has such a happy ending, it is always very emotional for me to talk about it.  I know other families who have not had happy outcomes like ours and I seem to meet more of them all the time in my advocacy work.  It is palatable to me that their story could be our story and we could be grieving the loss of our son.  It is also palatable to me that our story could be their story and they could be experiencing the joy of their child if only this thing or that thing could have happened differently. 

I would like nothing more than for every newborn screening story to be a happy one.  Families deserve a system that detects disorders rapidly and notifies parents immediately before their child can experience any harm.  I hope that this story conveys that message.

Saturday, October 5, 2013

Metabolic Clinic Appointment

As promised, here is our metabolic clinic update from Thursday's visit.  LB is doing great!  Developmentally, he is right on target and he's staying on his growth curve, which has consistently been between 15th to 20th percentile for weight and around 60th percentile for height.  He delighted the doctors and genetic counselors as he played with his toys, rolled a ball and talked up a storm to them.  He really is doing great.

A few things that we talked about with the doctor:
  • We always seem to feel like LB is smaller than he should be and we've kind of been attributing that to the MCADD.  After you have a kid like our older son who has never been below 95th percentile for anything, you wonder how you can have such a little guy as his brother.  They assure us that LB being 20th percentile for weight is just LB.  It has nothing to do with his metabolic condition.  I guess when I think about it, he is a completely different kid in so many ways from his big brother (personality, temperament, timing of milestones, etc.), so it's not that hard to fathom that this is just another way that he's being his own person.  They also said that it's good that he's staying on his growth curve because they often have trouble with obesity in kids with MCADD.  Parents are understandably terrified to let their kids fast and tend to overfeed them, which can lead to unnecessary weight gain.  So far, we are doing great with LB, though. 
  • We brought up our table manners issues (how he throws a lot of food at meals and we just give the plate right back to him to throw more) and we got some very good advice from the metabolic physician.  She told us that just because he has MCADD doesn't mean he has to eat more food than his stomach can hold.  If he's throwing food, he's probably not hungry and it's ok to take the plate away and excuse him from the table.  She stressed that we should discipline him in the same way we did our older son (when our older son threw food at this stage of development, we took his plate away and ended his meal -- the throwing stopped within weeks whereas the throwing with LB has been going on FOREVER it seems).  She also gave us some sage advice to not let food be a trigger for our family on any front.  We are going to have times that we absolutely need LB to eat to keep his metabolism out of trouble and if we use up all of our food capital on this kind of stuff, it's going to be a harder road to convince him to eat when he really really needs to.
  • They previewed that in future appointments when LB is able to speak for himself that the physicians will be interacting more directly with him while we are more in the background.  They have a philosophy of empowering the children in their clinic to be able to speak for themselves about their health and how they're feeling and it will give him practice to role play this while in the clinic.  This makes me feel very good about the care that he's receiving here.  I know that there will be a lot of times that my husband or I won't be with him in his future (going to school, going to sports practices, even just playing at a friend's house) and he needs to be able to go talk to a teacher, a coach, an adult and tell them if he's having a problem, if he needs to eat/drink something and what he needs to eat/drink in order to feel better.  The sooner he gets to start practicing that, the better. 

They also checked his carnitine levels with some lab work and we'll get those results in a few days.  We keep carnitine in the cupboard for when he's ill, but his labs have never shown carnitine deficiency, so we don't need to give it to him on a regular basis.  They said they typically don't see low carnitine in kids this young, but that eventually, he may need to be supplemented and they always check, just in case.

We also talked briefly about the impending discontinuance of polycose.  Abbott labs announced that they will no longer be making polycose, so we will have to switch LB to something else for his sick-day sugar-beverage protocol.  The physicians assured us that there are a lot of substitute products on the market and that they will be making a recommendation on one once the polycose supply is gone.  They also said that as he gets older, he can get away with drinking Gatorade or he can add sugar to any number of beverages and he won't necessarily need a prescription sugar solution.

We go back to see them in 6 months and we'll continue to see them twice a year until he gets to be school-aged, at which time going annually will likely be sufficient.

Thursday, October 3, 2013

The Greatest News!

Big day today - spent most of it at Children's Hospital for LB's (planned) semi-annual checkup with his metabolic team and a (unexpected) visit to the Pediatric Heart Institute. After lots of wiggling through an echocardiogram and EKG, he got a clean bill of health from the cardiologist! Thrilled and thankful for this great, great news!. It has been a stressful and uncertain few weeks, so it's a HUGE relief to put this one in the win column. He has two completely benign heart murmurs.  And I can exhale.

I'll update on the metabolic appointment later.  The cliff's notes version is that it went really well, too. 

Thursday, September 26, 2013

A Small Victory and a Tiny Bit of Relief

I forgot to take the cardiology referral with me to work today, but the minute I walked in the door after picking up the boys, I made that phone call.  I was dreading having to take LB to yet another specialist (mostly because I didn't want him to have a heart problem in addition to his metabolic condition), but at the same time, I was anxious to have some clarity and some answers about the murmurs and what they meant.  I was also dreading calling them and hearing that they could squeeze us in for an appointment in November and that we would have to wait more than a month to get those answers.

To my pleasant PLEASANT surprise, after taking all of the basic information on LB, they asked if we could make an appointment on MONDAY.  Really?  You mean Monday as in 4 short days from now?  Why yes, Monday...in four days.  I was floored.  Unfortunately, the appointment time was right in the middle of our oldest son's first preschool field trip, which we had volunteered to chaperone, so I pressed my luck and asked what their next opening was.  It was on Thursday, exactly a week from today and I took it. 

I hung up the phone and exhaled.  I was nauseous with worry and had seriously been on the verge of tears all day because I was so upset by the thought of LB having something else on his medical resume.  Knowing that we would have answers in one week was a small measure of relief.  I can deal with these feelings of anxiety and uncertainty for a week.  We wouldn't have to wait for a month to figure this out.  At this time next week, we'll know what we're dealing with.  We're hoping for another innocent murmur.  If it turns out to be one of the other possibilities (hole in the heart, heart valve problem), we'll just need to get to that place of peace again (similar to what we had to do when we found out he had MCADD) and just do what we need to do.

Wednesday, September 25, 2013

18 Month Check-Up (The Well Visit that Wasn't)

LB had his 18 month check up today.  As usual, we were looking forward to seeing how much he weighed, how tall he was and how he was progressing in physical/motor/social/verbal skills via the developmental questionnaire we fill out at each well appointment.  The visit started great.  He weighs 22 lbs (19th percentile) and is 33 inches tall (61st percentile) and we got through about 20 more developmental questions that put him solidly ahead of the curve (running, talking, picking up small objects, stacking blocks, etc., etc., etc.).  Then the pediatrician came in and told us how great he looked and how well he was doing.  Fabulous! 

Then, he started his physical exam.  LB was cooperative, as usual, and at the point that the doctor started listening to his heart, I could tell that he was taking extra time and listening extra carefully. Initially, I was not concerned at all.  We had seen another pediatrician at the last appointment because we just needed to get him in quickly (since I -ahem- missed his 15 month appointment - doh!!), so I assumed our regular pediatrician was just taking some extra time to hear the innocent Still's murmur that was found last month.  Well, turns out he heard the Still's murmur AND another one.  He was concerned about the other one.

He explained that murmurs are just noises that the bloodflow of the heart makes and that certain noises can indicate certain things.  The new murmur that he was hearing could be a few things -- it could be something else that is innocent OR it could be two other things that were far from innocent.  He told us that murmurs sometimes indicate blood flowing through a hole in the heart that isn't supposed to be there and that murmurs sometimes indicate problems with heart valves, which are supposed to have three flaps (called a tricuspid valve), but can sometimes have only have two flaps (called a bicuspid valve).  Those final two scenarios were concern enough based on the specific sounds he was hearing, to refer him to a pediatric cardiologist.  The pediatrician was reassuring and did a great job of delivering the news and I definitely put on my game face and told him I understood and appreciated the need to be thorough, to get it checked out, etc., but on the inside, I was crushed. 

Really?  Our sweet little boy who already has one medical condition to contend with and now he has to go see a cardiologist because he might need heart surgery?!  Really?  Do we have to add this to his plate, too? 

I also started to blame myself.  What the heck was I doing while I was pregnant to cause him to have a heart problem on top of the faulty genes I passed onto him?  Did I somehow cause this?   Could this one be my fault?

It was a pretty silent ride home from the pediatrician and it took us awhile to call Grandparents and siblings with the appointment stats (which are usually happy phone calls) considering there was also this rather crummy news to report, as well.

Luckily, the pediatrician recommended two pediatric cardiology groups in our metro area and I have a Task Force friend that is the world's most knowledgeable parent resource on pediatric hearts who was able to point me to the cardiology group that she trusts the most (Amanda Rose Adams, check out her book Heart Warriors, she is amazing!) so at least it will be easy to schedule an appointment, which we are anxious to do.  I'm worried that this uncertainty hanging over us will quickly become oppressive.  I know specialists are sometimes hard to get in to see, and I can't imagine needing to wait a month to find out what's going on.  I'm already feeling in a funk over this whole thing.  LB is too cute of a kid to be sick!!

Tuesday, September 24, 2013

How I'm Celebrating Newborn Screening Month

I am ashamed to say that less than two years ago, I was blissfully ignorant of the test that would save my son's life.  My husband and I were both healthy and came from healthy families with great genes.  I had read all the books on pregnancy and taken all the classes.  I had already given birth to one healthy baby boy, yet somehow newborn screening took us by surprise.  This surprise didn't come while his screening was happening in the hospital, 24 hours after LB's birth, but 3 days later when we got a call from our pediatrician telling us our son's levels for MCADD were "off the charts" and he was a presumptive positive for this rare, random metabolic condition that we couldn't even pronounce.

We got a crash course in newborn screening as we were learning how to care for our adorable baby boy with a metabolic condition.  Once the shock of it all wore off, I felt an overabundance of gratitude for this system that I didn't even know existed and I vowed to make sure that more parents were aware of this lifesaving test.  I was selected to serve on the Baby's First Test 2013 Consumer Task Force on Newborn Screening and I knew that my project as part of this effort would somehow have to do with educating expectant parents about all the things I wish I knew about newborn screening:

1) I wish I knew that newborn screening was going to take place.  I'm glad my newly postpartum hormones didn't cause me to freak out on the poor technician who came into our room to take drops of blood from our son's heel, but I kind of wish I didn't miss it altogether with both of my boys, either.  Especially, now that we know what we know.  I wish I had a chance to say thank you to that technician.

2) I wish I knew why newborn screening was even necessary.  He had great APGAR scores.  He was a healthy weight.  He was latching well.  All the doctors who examined him in the hospital told us he was healthy.  Why would a perfectly healthy baby boy need to have his heel pricked?  Couldn't everyone see that he was perfect?!  Well...he was perfect on the outside, but we soon found out that there was something going on inside his body that no one would have been able to spot just by looking at him.  There was something invisible going on, an error in his genetic code that was putting him at risk of all kinds of scary things.  I wish I knew that there was a test like this to let us know that our healthy baby boy really was HEALTHY - inside AND out.

3)  I wish I knew that it could happen to me, to our family, a family with great genes and no history of anything like this.  I was the kind of person who didn't see the need to do any prenatal screenings either.  I figured that I was healthy, my husband was healthy and we came from healthy families, so something like this would never happen to us.  I wish I knew that we were not immune to this recessive genetic condition popping up in our son - a 1 in 15,000 chance.  For my husband and I, we just both happen to have the same silent genetic mutation and we just happened to fall in love and have a family.  We now know that it's a 1 in 4 chance that our children could have MCADD.   It can happen to us and it did.

4) I wish I knew that there is  system in place to support and educate families with positive screenings.  Not knowing that newborn screening even existed, I felt very alone and very scared in those first hours and during that long first night home with an MCADD diagnosis, unable to sit down and talk face-to-face with our pediatrician until the next morning.  I now know that I have a team of genetic counselors who explained autosomal recessive inheritance to us and can coach us through any future pregnancies with regard to MCADD and who personally worked with our pharmacy to ensure that the medication he needs can be supplied to them.  I now know that I have a team of metabolic specialists ready to answer my phone call 24 hours a day 7 days a week when my child is ill and a pediatrician who cared enough to give us his personal cell phone number so that we would never have to use his answering service.  There are also scores of online support groups for families and an endless array of resources for every possible need in our lives -- feeding tips, diet tips, educating our child's teachers, creating 504 plans, you name it.  I am not alone!

In thinking about the best way to spread this message, I was immediately confronted with the newborn screening conundrum -- obstetricians and midwives take care of the pregnant woman and newborn screening is a test done on infants, in many cases BEFORE they even see their regular pediatrician.  It happens during a transitional phase of care between the mom and the baby.  Not to mention the fact that it happens during one of the most chaotic times -- 24 hours after giving birth when you are exhausted and sore and trying to juggle excited family members and doctors and nurses and lactation specialists and phone calls and more excited family members and take care of this tiny little life that you are still absolutely breathless about (i.e. NOT the best time to educate anyone about anything). 

Considering a 24-72 hour hospital stay is such a short span of time compared to the 9 months that a woman is pregnant, it just made sense to me that newborn screening education should be performed by the obstetrician or midwife, yet I was never handed any brochure about newborn screening from my OB's office.  I guessed this was because they specialized in pamphlets that talked about pregnancy, not about babies.  In my research, I found only one piece of literature that married prenatal education with newborn screening education and it was from the U.K. - a timeline that described all the screening tests to expect from conception through to newborn screening and I knew that it was genius!  I wanted to do something like this for the U.S.!

Since I am graphic-design challenged, I decided I needed a designer to help me put this idea on paper.  I happened upon a graphic design program at a local university whose department chair was interested in working with me.  She paired me with a class and I became their "client."  I made several visits to them - first, to tell my story and then to see how their creativity brought my idea to life.  I was blown away by how thoughtful and creative they all were.  They brought such energy to this effort and I know that they will be giving me a very difficult job of selecting only one winning design that I will produce and distribute across the region.  I am so very excited to get started.

Monday, September 23, 2013

Toddler Talk


Me:  LB, what do you want to eat for breakfast this morning?

LB:  THIS! (pointing to the snack area of the counter where we have various crackers, chips, fruit, etc. stacked about)

Me:  You want animal crackers for breakfast?

LB:  NO!  THIS!  (still pointing)

Me:  What are you pointing at?

LB:  THIS!

Me:  You want potato chips for breakfast?!

LB:  Yes.

Me:  Sorry, buddy.  We don't eat potato chips for breakfast.

LB:  PLEASE?


I love that we can hold a conversation with him now  =)

Saturday, September 14, 2013

Business Travels

I used to love traveling for work, but now I almost dread it.  I really hate being away from my boys and coming home has turned into my absolute favorite part of a business trip -- I love unpacking my suitcase and turning around to find my two favorite little boys stowed away in it.
 
 
It was a nice trip -- flew out on Monday, flew home on Friday and logged a few hundred miles on a rental car between two states in between.  I arrived home just in time to snuggle my boys and tuck them into bed, ready to start the weekend. 
 
I managed to miss a pretty spectacular week here in Colorado with all the rain and flooding.  We are soggy, but not flooded.  It's ironic how we have been praying for rain to end the drought (which was causing all these really devastating wildfires for the last two years and sidling us with watering restrictions and enormous water bills despite our efforts at conservation) and Mother Nature thought it would be nice to pay up in  three days time with enough rain to last a whole season.   Be careful what you wish for, I guess.

Sunday, September 8, 2013

Three Peas in a Pod

What started off as ONE boy drinking from the sprinkler...
 
 
quickly turned into TWO boys drinking from the sprinkler...


 
and then THREE boys drinking from the sprinkler.

 
Best backyard sprinkler picture ever!

Sunday, September 1, 2013

Happy Newborn Screening Month!

It has been an excellent year to get involved in newborn screening advocacy for so many reasons, but probably one of the biggest reasons this year has been so exciting is that the whole newborn screening community has been gearing up for September 2013 for quite some time now.  Welcome to the 50th anniversary of newborn screening in the United States!

In honor of newborn screening month, there are a number of awareness campaigns underway and I hope to introduce you to many of them over the next 30 days.  The first campaign is from Associated Public Health Laboratories (www.50yearssavingbabies.org).  They have an awesome brochure that is perfect for expectant parents and an incredible book recounting the detailed story of this simple test and how it became ubiquitous in newborn nurseries across the country and around the globe.  The book is chock full with family stories and I admit that I have read the entire thing cover to cover. To someone who tears up every time I think about the depth of my gratitude for newborn screening, the book was a bit of a tear-jerker, but also deeply, deeply inspiring.  They are still working to make the system better, to do it faster, to do it more accurately, to include more conditions, to save more lives.  I am thankful for the work that they are doing each and every day. 

Newborn screening saved my son's life and the next life it saves could be that of a baby close to your heart!

Friday, August 30, 2013

A Reminder in Kindness

 
2013-08-23-SuzannePerryman.jpg


I found this blog both infuriating and touching at the same time.  I am infuriated that this mother had to deal with such ignorance.  Not all medical conditions are visible from the outside, but that doesn't make them any less real.  It certainly doesn't make this mother's life any less challenging.  I'm also touched by her response to the note of someone so ignorant: 

I am a kinder woman who lives in a world that is no longer black and white. Sometimes gray is good, a salvation, a retreat from something that could be much worse. My priorities were reshuffled for me, and now I would never think to judge another.

I am always in motion and I am grateful. Grateful for the touch of my child who needs my hands to steady her, grateful for my child who craves my words to calm her, my child who needs my hugs to soothe her. I am even grateful, that I no longer live in your black-and-white world.

http://www.huffingtonpost.com/suzanne-perryman-/to-the-author-of-the-anonymous-note-left-on-my-car-window_b_3806012.html?utm_hp_ref=fb&src=sp&comm_ref=false

I urge everyone to be a human being, not a vigilante parking cop.  You have no idea what other people go through until you walk a mile in their shoes.  Being the parent of a child with a medical condition is challenging enough.  Don't hurt their feelings on top of everything they already deal with.

Tuesday, August 27, 2013

Back to the Pediatrician

I mentioned LB's recent check-up a few posts ago, but I wanted to mention one other thing of note that actually happened a week after his checkup.  He had a reaction to the Measles, Mumps and Rubella (MMR) vaccine.  The pediatrician warned us that he might spike a fever 7-10 days after the vaccine (which he actually didn’t do), but they didn’t say anything about any little marble-sized lumps that might start appearing on his head and neck.  Thankfully, with my brain already prepared for a fever in 7-10 days, I thought to check the vaccine info sheet for other reactions before panicking about whether this might be tumors or cysts or other scary things and I saw that this lumpiness was one of the common reactions.  It actually happens in 1 out of 75 children. 
It was the weekend when it happened, so we called the pediatrician on Monday morning to ask if there was anything we should do.  They wanted to see him, so I took him in for a quick visit and they confirmed that he has swollen lymph nodes all over his body (neck, head, armpits, groin) and those big lumps that we noticed were probably just the most pronounced.  The lymph nodes have a role in immunity so the fact that they got all swollen after the vaccination likely means that he’s having a good immune response to the vaccine and will develop solid immunity to the MMR diseases.  She reassured us that there was no reason to be concerned unless they become red, hot or uncomfortable which could indicate that they are infected (which she said is very uncommon for lymph nodes that are activated by vaccinations).  The best thing to do is to ignore them and not prod at them too much because that will only prolong their immune response reaction.  If they are still very pronounced in a month (right around when we’ll go back for his 18 month appointment anyway), it might be a reason for concern.  They will likely just fade away between now and then, though. 

The lumps don’t seem to bother LB at all, so that’s good and they seem to already be fading a bit, which is great.  I just wish that these medical statistics would give the poor kid a bit of a break – 1 in 17,000 babies in the U.S. have MCADD, 1 in 75 kids can get lumpy reactions to the MMR vaccine…does that mean that LB’s now 1 in 1,275,000 kids with MCADD who gets a lumpy reaction to the MMR vaccine?  Really now, let’s not do this to him!  He’s too busy of a kid to have time for all of this.  =)
Seriously, though - we definitely believe in vaccinating our children and that was the plan for our kiddos before we ever knew anything about MCADD.  Even with this reaction, we still believe it is best to give our kids (especially our kid who ends up the hospital with possible life-threatening consequences when he's sick!) the best line of defense against disease.  I know this is a hot topic and everyone is entitled to their own opinion on this, but from my point of view, vaccination helps not only your own kids, but also provides an extra line of defense for the weakest children in the community.  Luckily, we have kids who can benefit directly from vaccinations, but some children legitimately cannot get them due to various health conditions.  These families depend on the indirect protection their children get from these ugly diseases by living in a vaccinated community.  I'm happy to know that having my kids vaccinated is helping protect those children, as well. 

Sunday, August 25, 2013

The Hospital Bag Unused

LB threw up this morning.  Fun stuff.  I had just taken him for a haircut (which he sat very still and quietly for, I might add) and I was buckling him into his car seat when he started to gag a bit.  I asked if he was ok and then he vomited.  Three times.  Once on himself and twice in projectile form into my car and my hair.  He hasn't been sick so my suspicion was that maybe he had a piece of hair from his haircut in his throat and gagged on it enough that it made him throw up. Let's hope that's what it was.  Having it be a flu or a virus would be much more of a worry.

I fetched the roll of paper towels out of the trunk and tried to clean the two of us up the best I could.  I didn't bother with the car.  That could wait for later.  I called my husband on the way home to tell him what had happened and so that he would be prepared for us to come home covered in vomit with a car that needed to be cleaned and aired out.  He agreed that he probably just had some hair in his throat and agreed to meet us in the driveway when we got home.  When we arrived, my husband launched into the car and car seat cleaning, while I handled the cleaning of the boy (and myself -- my hair was pretty stinky by then). 

Our plan for the day was to take LB for his haircut and then head out to a birthday party for my friend's boys at lunchtime.  We had been looking forward to the party for awhile now and although I really wanted everyone to be able to go, we were worried about LB and whether this vomiting incident would repeat itself.  Probably the worst place to be with a vomiting kid is at someone's birthday party, right?  We decided to try to feed LB a good snack and see how he did.  If he kept it down, we could probably go to the party.  If he didn't, we talked through a couple scenarios of who would stay and who would go. 

An hour later, he was fine.  No more vomiting. No signs of illness whatsoever, so we decided to go to the party as a family and just keep a close eye on LB.  We also decided to pack a hospital bag, just in case, so that we wouldn't have to backtrack all the way to our house if he did need to go to the hospital.  Thankfully, he did great at the party and that hospital bag went unused.  I'm glad we were prepared, but I'm also really glad this was just another "kid thing" as opposed to an "MCADD thing."  We've been very fortunate that he's been so healthy lately!

Saturday, August 17, 2013

Seventeen Months


I’m a little embarrassed to admit this, but I somehow managed to forget to take my MCADD kid in for his 15 month check-up.  Oops!!  I realized this as I was gearing up to make his 18 month appointments with both the pediatrician and the metabolic clinic.  I knew that metabolics wanted him back at 18 months.  I missed that the pediatrician needed to see him at 15 AND 18 months.  I blame the sleep deprivation…or the concussion I got at the end of May (long story).  In any event, the scheduler at the pediatrician’s office was very nice about the whole thing and volunteered that a lot of parents forget about the 15 month appointment.  It only made me feel slightly better, but whatever.  The important thing is that we got him in for his check-up and immunizations and he’ll be right back on track with the pediatrician next month for his 18 month check-up, which is already scheduled!
At seventeen months, LB weighed in at 22 lbs, 4 oz (29th percentile) and 32 1/4 inches tall (54th percentile).  He’s always been our little guy, even though I guess 29th and 54th percentile isn’t that little, but when we were used to our older son never being lower than 90th percentile on anything, LB is a bit of an adjustment.  We’re definitely seeing this in the hand-me-down clothes, too.  A lot of them are falling right off LB.
One thing of note at his checkup was that the doctor noticed a Still’s murmur with his heart.  He described it as an innocent murmur and insisted that it is nothing to be concerned about.  Lots of children have them.  It is often easier to hear on thinner children and LB was being really cooperative as they listened to his heart, so they said it’s possible that he’s always had it and this is just the first time they’ve heard it.  It’s good to note in his medical record at a time when he’s healthy because if it is heard in the future at a time when he’s sick, they’ll know that it’s a pre-existing thing.  He will outgrow it in time.

Developmentally, he's doing great - walking, talking, climbing, you name it!

 

Saturday, August 10, 2013

Meal Stress

I have a confession to make...my MCADD kid has terrible table manners!  I blame myself.  Really, it's all my fault.  When my older (non-affected) son was this age and he would start throwing food off his plate or dropping his plate on the floor, I would just take it away.  If he's playing with his food, he must not be hungry enough to eat it.  Wipe off the child and set him loose to play.  Issue closed.  Food throwing situation solved in relatively short order.

With LB, I haven't been able to do that.  Even if he's throwing his food or throwing his plate, cup, fork, etc., I haven't been simply wiping him up and setting him loose.  I've been attempting to have him continue his meal because after all, he needs to eat, right?  So, meal after meal, we are enduring chunks of food flying past our heads and utensils landing on our plates and oodles and oodles of food wasted on the dog (who may very well need to be put on a diet soon). 

For the longest time, we tried to ignore it thinking no reaction from us would make him think food throwing wasn't much fun.  Or we would take his plate away for a minute, remind him that we don't throw our food and then give it back to him only to have him go right back to throwing.  Needless to say, mealtimes have gotten very stressful.  It's a dangerous spiral -- he throws food because he isn't hungry, we want him to eat any morsel of food possible so we let him continue to throw food and then we get stressed that he's not eating the food, he's only throwing the food and we stack more food onto his plate in an attempt to get him to eat something, anything and he just keeps throwing food anyway.   

Thankfully, if he doesn't eat a good dinner, we always have the bedtime snack to fall back on, but even then it's a matter of chasing him down and popping graham crackers in his mouth anytime he slips out of perpetual motion. He's constantly busy zooming through the house and really can't stop and be bothered to sit down and concentrate on eating.

We know that he's healthy and developing appropriately, so he must be getting plenty of calories, but this mealtime madness thing is really getting hard (and rather embarrassing when we eat in places other than our own home). Does anyone have any good tips for getting through it?  We are all ears!

Wednesday, July 31, 2013

Mischief

Didn't I just mention how fearless this little boy is?
 
Although slightly paranoid about him falling and hurting himself, mostly I'm just grateful that he's a normal little boy (most of whom are part monkey anyway!). 

Monday, July 29, 2013

Summer Vacation!

We embarked on our annual summer road trip this week.  It's 3200 miles roundtrip across 7 states and one foreign country and includes stops to visit both sets of grandparents.  We were a little worried about how LB would do in the car for so long, but he did great.  We sang a lot of songs and read a lot of books together.  He also spent a fair amount of time snoozing in his car seat or looking out the window and waving at the corn and the cows.   Here are some trip highlights...
 
Playing on the beach in Canada...   


 Fishing with his uncle...
 
Trying to convinces someone, anyone, in the ice cream shop to give him a gumball (no one did)...
 
Enjoying his first ketchup flavored potato chips (a Canadian favorite)... 
 
Devouring his first ear of corn on the cob (he ate nearly an entire ear all by himself)...

Squirting Mommy with water toys... 

 
Although it was a wonderful vacation, we are happy to be home sweet home again.  We enjoyed lovely weather and some really special time with our families where the kids made some great memories, but driving cross country with two kids under the age of three is still a pretty big production. 
 

Friday, July 12, 2013

Sixteen Months

A few fun stories about our favorite 16 month old big boy...
 
He loves to "help" in the kitchen.  We drag a kitchen chair over to the counter and he will gladly help make a mess with any recipe I am concocting.

Speaking of messes, he is likely one of the world's messiest eaters.  We got his Highlights Hello magazine a few weeks ago with a story that goes something like this..."When Teddy eats, he feeds the cat.  He drops spaghetti on the mat.  He squishes veggies.  He smears grape jelly.  Does any food get in his belly?"  This kind of sums up our eating experiences.  Well, that and the fact that he uses his hair as a napkin.  We regularly hold him over the sink to remove the banana treatment from his blond locks.

He loves ketchup!  I had the refrigerator open to pour him some juice, but instead, he removed the ketchup from the bottom shelf of the refrigerator door and climbed up into his seat (while carrying the ketchup...which was quite a production for a boy of his size I might add) and proceeded to give me this puppy dog look.  He really wanted to eat ketchup.  

He is still excellent at climbing onto and into things.  The picture of him in the diaper box was particularly amusing.
 
In other updates...
  • he has a few words now including juice, cheese, up, down, yes, dog, ball, along with Mama and Dada, of course.  We still can't pick out his word for his big brother, but he can point him out or chase him down whenever we ask him where his big brother is.
  • he wants to do everything his brother does and play with the same things his brother plays with.
  • he is at a phase where he wants to do everything and climb everything, but he has no fear of the consequences of falling.  Needless to say, we are nearly always within arms reach to keep him out of the danger that he creates for himself.  I'm always happy when this stage of child development passes.
  • we have cut a bunch of molars (I say "we" because after many nights up rocking him through teething discomfort, I feel as if I am also part of the process although he was the one doing all the hard work).  He is now sporting the full set of 1-year molars along with all 8 teeth in front.  Next up are eye teeth and the 2-year molars before he has his full set of baby teeth.
  • he is sleeping well, although he tends to still wake up to eat once a night at least 3-4 nights a week. When he does, we give him a 4 oz bottle of toddler formula and he is quickly back to sleep.  His sleeping does get disturbed with teething, though.  I think that's pretty normal, though. 

Friday, July 5, 2013

A Vacation for Mom and Dad

My wonderful husband and I are celebrating 5 years of marriage this summer.  As a gift to us, my husband's parents (a.k.a. the world's greatest in-laws!), offered to come watch the boys for us so that we could enjoy a long weekend in the mountains.  The plans for this weekend have been in the works for quite some time, 6 months or more.  I admit that the idea of leaving LB with anyone other than us was terrifying a year ago.  He was eating every four hours and waking up several times a night.  We were tracking his food intake in notebooks to make sure he made it to within 1/3 of his average food intake for the day.   He was doing great and all, but we were, like all new metabolic families, a bit jittery...me especially.
 
As months have passed, we've gotten more comfortable with the feeding requirements associated with MCADD and the many interrupted nights of sleep.  That said, we had still never left LB with a sitter (other than his daycare provider and she only watches him during the day) up to this point and we had certainly never let him out of our sight for a meal. 
 
My husband's parents came out to visit us a couple times in the month leading up to our weekend.  During that time, they paid attention to his eating schedule and asked questions about the things they should watch for.  They understood the importance of his bedtime snack and his need for adequate hydration and rest periods while out playing in the summer heat.  They assured us that everything would be ok and I became more comfortable with the thought of leaving him not only for a meal, but for three days worth of meals in their capable hands.
 
As the vacation approached, the only thing that I remained worried about was the nighttime feedings.  LB is still waking up 3-4 nights a week expecting a bottle, which we oblige him in and he quickly snuggles back to sleep.  I was worried about my in-laws having to get up in the night with him and having their sleep disturbed possibly several nights in a row.  I mentioned this to my mother-in-law and she said the sweetest thing to calm my fears.  She said that some of her favorite times with all three of her children were during the quiet hours of the night.  She recalled that when her youngest finally started to sleep through the night, she was sad that she would no longer have that special one-on-one time with her because as a mother of three young children, her days were quite full, especially managing the two older boys (my husband included!) and she didn't get much one-on-one time with her youngest.  Not only was my mother-in-law not bothered by the thought of night feedings, she was looking forward to them.  What a relief! 
 
On the morning of our departure for our trip, I was a bit nervous, but mostly I was excited for a getaway with my husband and an opportunity for the boys to spend some special bonding time with their grandparents. I knew the boys would be more than fine with their grandparents and that they would have a lot of fun.  We also knew that if anything catastrophic happened, we would only be a couple hours away and could easily be home lickety-split.  Thankfully, nothing happened...but, in fact a whole lot happened.  The boys went to the zoo, visited several different parks in the neighborhood, went hiking, swam in the pool, etc. 
 
 
And we had a lovely vacation, complete with 3 nights in a row without a night feeding (something neither of us has had in about 16 months).  Happy Anniversary!
 
 

Monday, July 1, 2013

July is FOD Awareness Month!



Welcome to July, which is FOD Awareness Month!  Can you believe it's already July?  I know I can't!
 
 

Wednesday, June 26, 2013

Face to Face with the Group That Saved My Son's Life

While I was in Atlanta at the Joint Newborn Screening and Genetic Testing Symposium with the Consumer Task Force, I had the opportunity to meet many of the people who are involved with the newborn screening program in Colorado.  I already knew some of them from our interactions with the Inherited Metabolic Disease Clinic at Colorado Children's Hospital, but I was also introduced to some other influential folks from the public health side. 

Like always, the first thing I did was to thank them for the work that they do because my family is still grateful each and every day for the life-saving information we gained from LB's newborn screening.  The next thing I did was to ask how I can help them in their work.  Their answer was for me to join the State Newborn Screening Advisory Committee, which was in need of some parent representation.  Last night, I attended my very first meeting!

The Newborn Screening Advisory Committee exists to advise and make recommendations to the Colorado Department of Public Health and Environment's Laboratory Services Division and Prevention Services Division on issues in newborn screening.  It is comprised of experts from across the region in various medical, genetics, research, laboratory and public health disciplines.  From my understanding, there are similar groups in most states who help advise state-level policy on newborn screening.

The focus of last night's meeting was three-fold...

1) To discuss the state's implementation plan to begin screening for Pompe Disease, a lysosomal storage disorder recently recommended for inclusion in the national Recommended Uniform Screening Panel (RUSP) by the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children.  I was surprised to learn that there are several laboratory methodologies that can be used to screen for this particular condition.  The committee wanted to be sure to use the methodology that would be most conducive to integrating other lysosomal storage disorders that are also expected to be included in the RUSP in the near future, particularly MPS I (aka Hurler Syndrome).  Since Pompe is a condition that has both an infantile-onset and a late-onset form, there was also a good deal of discussion on how to be sure that the individuals with infantile onset are caught before 1 month of age so that treatment can begin immediately and late-onset individuals are identified so that they can be monitored for symptoms that will signal when treatment should begin.  In both instances, there would be huge gains through early diagnosis via newborn screening, in particular with the late-onset group that is currently experiencing a 6-10 year diagnostic odyssey to even learn they have Pompe.

2) To update the committee on plans to implement Critical Congenital Heart Defect (CCHD) screening in Colorado.  There is national debate about whether pulse oximetry monitoring for CCHD should be a standard of care screening performed within the hospital or a state-mandated newborn screening.  Colorado is moving toward implementation of mandatory CCHD screening; however, they are concerned about how altitude can affect the cut-offs for what is considered a normal or abnormal screening.  There are several Colorado hospitals that are beginning pulse oximetry screening on their own as a standard of care in their newborn nurseries this summer and the hope is that soon all hospitals in the metro area will be doing it (and the metro area is where the majority of the births in the state occur).  With all the data from these hospitals in the coming months, the researchers and the advisory committee are confident that they will be able to make an informed decision about where cut-offs should be established and move forward with officially adding CCHD screening to the state's newborn screening panel.  Once it is included on the newborn screening panel, the Department of Public Health can begin a tracking and follow-up program to monitor this population and the CCHD screenings taking place statewide, which is important for Quality Assurance and Quality Control measures.

3) To discuss a recently published journal article on Congenital Adrenal Hyperplasia (CAH) that was authored by several committee members.  Colorado is one of only nine states that perform a mandatory second newborn screening.  The first screening typically takes place in the hospital, while the second one typically takes place during a baby's first visit to the pediatrician at approximately 1-2 weeks of age.  This study showed that nearly 30% of CAH cases were picked up on the SECOND newborn screening, meaning they were missed during the initial screening.  This is a particularly important finding for boys with CAH (the gender most often missed) because babies born with CAH need to be detected early and put on medication to prevent salt-wasting which can lead to dehydration and even death.

Although the meeting was quite technical, it was also very reassuring for me as a parent.  For Pompe, I was comforted to know that the committee is not rushing to implement screening in a manner that isn't mindful of additional screenings that could be added in the future.  They are sizing the program for maximum benefit to babies born today AND in the future, while also being mindful of the taxpayers and maximizing what they can do with their limited funds.  The fact that individuals with Pompe will soon have the benefit of early screening is also very exciting.  The current status quo of living for a decade with this condition, but not being able to get a diagnosis sounds incredibly frustrating.

For CCHD, I was pleased to hear that they are being careful to assign informed cut-offs so that they can minimize false-negatives and false-positives, both of which can be traumatic for families.  The cooperation and initiative taken by the hospitals is also a huge boost for CCHD screening here in the state.  Although many of these hospitals compete for a piece of the lucrative childbirth business (all the fancy birthing suites, TV commercials and various amenities for new moms), on this subject they will all be coming together to share pulse oximetry data and do what is best for ALL babies born in the state, not just the ones born at their hospital.  They know when to compete and when to cooperate. 

The meeting was a living, breathing ethics lessons with many competing priorities to be sorted through.  In the end, it was evident to me that everyone in the room was steadfastly committed to doing everything they can to ensure that the Colorado screening program continues to save lives and improve the lives of those with conditions detected by screening.   It was very much an honor for me to be part of it.   It was also very palpable in my heart that the people in that room each played a role in saving my son's life.  It meant the world to me that I could thank them, in person, for the work that they do.  They save babies lives every single day and I couldn't be more grateful that this group exists and that they do their jobs so passionately.

Monday, June 24, 2013

Spreading the Word!

I was recently interviewed by my graduate school about the work that I'm doing for newborn screening advocacy.  Although I earned a degree from a Public Policy school, my focus was always on environmental and energy policy.  I never took a single course on health policy.  However, after my son was born with a condition detected through a Public Health program, I found that policy is policy is policy.  It doesn't matter that my day job is in transportation and energy policy, those same skills translate very well to any field of policy.  The same may be true for you.  If you're thinking of becoming an advocate for newborn screening, I'd encourage you to just think about the things that you already do well and figure out how to do those same things to benefit the world of newborn screening.  We need you!

Visit the Ford School website for the original article or read below...

Kay Kelly works in transportation policy. So how did she become an advocate for this important public health program?

Kay Kelly and family
Kay Kelly and family
Wednesday, June 19, 2013
It was a scene that began like so many others: Kay (Milewski) Kelly (MPA '05) and her husband had just brought home their three-day-old son from the hospital. Waiting to welcome the newest member of the family, along with a homemade birthday cake, was Kay's oldest son and a house full of relatives. But as everyone sat down to dinner and a round of "Happy Birthday," the phone rang. It was the pediatrician: not fully seventy-two hours old and her newborn had tested "off the charts" for what Kay and her family now know is MCADD.

Newborn screening: What it is and why you may not have heard of it
Medium-chain Acyl-CoA dehydrogenase deficiency (MCADD) is a genetic metabolic disorder found in 1 out of 15,000 newborns. In babies with MCADD, a broken or missing enzyme renders the body unable to oxidize fatty acids—turn fat into energy—and can cause severe hypoglycemia if the body goes without food for long periods or isn't properly hydrated during illness.

"His body treats them [fatty acids] like toxins and gets rid of them, so he can't rely on stored fats for energy like we do," says Kay of her son, whom she describes as a healthy, happy 15-month-old. "He's going to be fine, and it's all because we found out. The first week of life can be very dangerous, illnesses can be very dangerous. And if we hadn't known better, we could have lost him. It's something that we're really thankful we know about."

Kay is talking about newborn screening, which tests every baby born in the United States for serious but treatable health disorders and conditions. While all states perform newborn screenings, the specific conditions screened vary from state to state. Most states screen for 29 of the 31 conditions on the Recommended Uniform Screening Panel, developed by the Secretary of Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) in 2006. There are thirty-one disorders in the screening panel to date, says Kay, and every one of them is treatable if identified early. "All children who screen positive for a condition benefit from treatment and learning that they have the condition," she explains.

Screening tests exist for nearly sixty conditions, but less than a decade ago, some states tested for as few as four. "I think [newborn screening] is one of the greatest public health advancements of the century, but it's a largely unknown program," says Kay.

The screening process is simple: between twenty-four and forty-eight hours after an infant is born, a hospital technician pricks the heel of the newborn and blots the emerging drops of blood with filter paper. The blood spots are then sent to a state laboratory for testing. If the results come back abnormal, or outside of the normal range, the parents are asked to follow-up with a healthcare professional or specialist.

Screening also includes a hearing test and, in some states, pulse oximetry for heart defects. The screenings, and knowledge about potential diagnoses, can be lifesaving. Yet newborn screening isn't on the radar of many parents. "Parents receive so much information during pregnancy that newborn screening often falls to the bottom of the list," says Kay. "Most prenatal classes don't even cover newborn screening and hospitals tend to just hand you a brochure while they're performing the screening. Like many other public health programs, people only learn about newborn screening if there's a problem."

On a mission
Kay and other dedicated parents and organizations are working to change that. Kay blogs regularly at MCADD for Moms external link, a resource she created for families who have children with the same metabolic disorder as her son. She also applied to become, and was appointed, a member of the 2013 Consumer Task Force on Newborn Screening, which is a program of Baby's First Test external link, a federally funded clearinghouse that provides extensive information and resources about newborn screening at the local, state, and national levels for parents and health care professionals.

Active and passionate about child health advocacy issues like newborn screening, the Consumer Task Force comprises parents from across the country. Most task force members have or had children with conditions either detected or that could have been detected through newborn screening. In May 2013, Consumer Task Force members participated in a panel at an international meeting to share the family experience of newborn screening with scientists, medical professionals, and policy makers. In addition to increasing their relationships in the newborn screening and health community during a one-year term, each member also develops and executes a project in her or his home community to raise awareness. Kay constantly educates herself and others about MCADD, newborn screening, and the issues that affect them. She is currently urging her state representatives to reauthorize the newly expired "Newborn Screening Saves Lives Act," which would expand state-level screening programs and keep testing safe.

Kay works as a project manager for the Clean Cities program at the U.S. Department of Energy, focused on transportation policy and the future of alternative fuels. She likes her work and it remains important to her.

But newborn screening advocacy—and educating parents, citizens, and decision makers—has become a full-on mission, and her skills negotiating time constraints, multiple stakeholders, and often complicated information translate seamlessly from one policy issue to the other. So does her desire to make a difference.

"The motivation to get involved comes—a lot—from the Ford School," Kay explains. "I can't just sit back and be thankful about this; I need to go tell everybody about it. I need to talk to the decision makers and express to them how grateful I am and do everything I can to see to it that the progress that's been made in newborn screening continues to help other families like mine."mcaddformoms.blogspot.com/ external link

Saturday, June 22, 2013

From the APHL Blog...

This blog definitely touched my heart.  A woman who works in newborn screening has a niece who screened positive for PKU (a metabolic disorder).  She writes about her family's experience, their gratitude and how she will never view her job the same way again.  Many of her sentiments are familiar to me and our family's experience with newborn screening.

Association of Public Health Laboratories Blog - Newborn Screening Gets Personal

Tuesday, June 18, 2013

Talking About Teeth

LB had his first visit with the dentist last week.  I was more anxious to take him to the dentist than I was with our older son because, let's face it, LB eats and drinks all the time and we don't stop to brush his teeth any more often than we do with his older brother. We like to make sure LB's getting the calories he needs, so during the day he snacks a lot and his drinking cup is usually filled with milk or juice instead of plain water.  At night, we brush his teeth before bed, but he can sometimes wake up and eat once or even twice during the night and we don't really want to get him all agitated and keep him awake any longer than necessary by brushing his teeth after each feeding.  I was honestly worried about all that sugar sitting on his teeth throughout the day and during the night.  I was convinced that the dentist would take one look and scold us for not taking better care of those little teeth.

Before our appointment, I visited the FOD Support website and printed out the MCADD Information for Clinicians because I wanted to be able to hand something to the dentist to explain LB's metabolic disorder so that he would understand the feeding system we've been working with for the last 15 months and the importance of making sure he eats often, even if it's in the middle of the night and even if we can't immediately brush his teeth afterwards.  I really like this resource because I've been told that in 8 years of medical education, metabolic disorders are covered in only about a paragraph.  If that is true for doctors, I imagine it may be even less for dentists and I wanted him to have a piece of reference material for LB's chart and his own education.

I was very pleased with the dentist's reaction to LB's teeth -- they are fine!  He did a regular cleaning and brushed them with a fluoride treatment that he assured us would help keep the enamel strong despite his feeding needs.  I was also pleased that he asked a lot of questions about MCADD and LB's medical history and seemed genuinely interested in learning more.  He even asked his assistant to leave LB's chart on his desk so that he could read over the clinician information sheet later that day.  I'm not sure that MCADD can have any detrimental effects on teeth, other than the concern about keeping them clean despite the need for frequent feedings I guess, but I told him that if he had any questions, he could contact our metabolic team for additional resources.  In all, I think it was a great (and very reassuring) visit.

The big news in teeth now is that LB has managed to sprout 3 new ones in the last week!  He was standing at 7 for a couple months, but his gums were definitely lumpy at his dental appointment so we were sure more would be popping through soon.  Sure enough, he finished out the last of the front bottom teeth and got two molars shortly after his appointment bringing his tooth total to a whopping 10!  We are officially half way through teething - hooray!  Now that's something to smile about =)