Saturday, January 26, 2013

Learning About Newborn Screening

I had my first Consumer Task Force call this week and all I can say is that I am incredibly humbled and honored to be part of this amazing group of mothers.  All of us shared our personal stories about how our families have been affected by newborn screening and what compelled us to apply for this task force and/or become advocates.  Some members of the task force have been advocates for quite some time and have accomplished some very impressive things.  Some members, like me, are new to the world of newborn screening advocacy, but oh-so-anxious to do everything we can to help spread the word about the testing that saves babies lives each and every day.

We also talked a little about Genetic Alliance, the organization who is sponsoring the task force.  They are a non-profit whose goal is to bring people together and improve health through genetics.  This particular aspect of their work is supported by a grant funded through the Newborn Screening Saves Lives Act.  They are now the nation's educational resource center for newborn screening information and their mission with this work is to help improve the educational model for newborn screening by bringing a public voice to the newborn screening world.

I, for one, am INCREDIBLY excited to be one of those public voices.  My family has such a great newborn screening success story that I love sharing it with anyone who has a moment to listen because maybe, just maybe, I will be able to make a difference that will one day save other children.  I'm thrilled to get started and I can't wait to see all of the good things that this passionate and talented group of moms will accomplish in the next 12 months!

Sunday, January 20, 2013

Welcome New Readers!

With the announcement of the 2013 Consumer Task Force on Newborn Screening, there may be some new readers visiting this blog.  Therefore, I wanted to take this opportunity to warmly welcome you to this space.  I hope you visit often and share your own stories.  It is my sincerest hope that this blog will become a resource and refuge for other families who are traveling the same road that we are.  I also want to give you a little bit of background on our journey as a family with an MCADD child and the reasoning behind starting this blog. 

We found out shortly after the birth of our second child that his newborn screening had come back positive for the genetic, metabolic condition called MCADD (Medium Chain Acyl co-A Dehydrogenase Deficiency).  We were literally sitting around our kitchen table eating cake and ice cream with all of the relatives who had come to welcome our new baby when our pediatrician called us with the news.  In the euphoria (and exhaustion) on our first night home from the hospital with our seemingly perfectly healthy baby, we were confronted with a diagnosis that honestly seemed pretty frightening.  I still remember the panic I felt as I heard my husband asking the doctor if our son would be able to live a long, normal and healthy life.  If he would be OK.  I also remember feeling somewhat defiant -- couldn't they see that I was holding an absolutely perfect baby in my arms?  He didn't look sick in the least bit and if anyone was going to tell us that he was anything less than perfect, they'd have to go through me first (perfectly normal, post-partum emotions talking here).

Thankfully, we were quickly educated about MCADD by both our pediatrician (who was familiar with metabolic conditions, but learning more about them alongside our family since our son was/is his first patient with MCADD) and some incredible genetic and metabolic specialists at Children's Hospital.  We learned that he was going to be OK.  He didn't need a special diet.  He wouldn't need any invasive procedures (other than some blood draws that he slept right through).  He was going to be able to grow up and be a perfectly normal kid...most of the time.  The only exceptions to that would be:
  1. we needed to carefully monitor his food intake through his first year of life and delay letting him sleep through the night until his metabolism can withstand going that long without a meal
  2. once he is able to sleep through the night, he will need a hearty bedtime snack (something we weren't doing with our older son, but really the only thing different diet-wise for our MCADD kid than any typical toddler or child)
  3. throughout his life, he will never be permitted to "fast" (skip meals) because this can lead to serious health complications much more quickly in people with MCADD
  4. we will always need to be very careful when he gets sick (notice I say "when" he gets sick and not "if" he gets sick because, let's face it, ALL kids get sick) because his doctors will have a very low threshold for just admitting him to the hospital for IV fluids and observation to ensure his well-being and prevent metabolic crisis
My husband and I quickly realized that this diagnosis was not something to fear; it was exactly the opposite.  It was a blessing! Everyone involved with his care for the rest of his life was going to know exactly how to keep him safe and healthy because they know that he has MCADD and his metabolism works a little differently than the ordinary person's does.  The diagnosis would save his life at some point because instead of trying to weather the flu on our couch with a cup of Pedialyte and everyone wondering why he was getting sicker instead of better, he would be in the hospital getting essential IV fluids that his body needs and he would never be permitted to get so sick that he would go into crisis. Before they started screening for disorders like MCADD as part of the newborn screening program, kids would die from this disorder.  Not our son.  He is going to be fine because everyone knows how his body works differently and can factor that knowledge into his care.  He is going to be fine -- hooray!

I am an optimist by nature and, as a mother of a child with a metabolic disorder, I know firsthand how difficult it can be to read some of the stuff out there on the internet about medical conditions like MCADD.  When you Google "MCADD" you often get scary statistics about how many of these kids perish or you get memorial sites for those families who are in mourning.The reality is that states haven't been screening for disorders like MCADD for very long and tragically, before they started screening for it, many people lost their children.  It is tremendously sad for me to think that something so treatable could have taken the lives of so many children.  If only the screening program could have included this disorder sooner.  If only these parents knew that keeping their kid safe was as easy as feeding them regularly, giving them a bedtime snack and getting them some IV assistance when they were ill.  It's no one's fault that these things didn't happen, but it still isn't easy to imagine life before MCADD screening.  

Thankfully, we were educated about MCADD before we had a chance to start Googling it (a practice I now discourage for any medical condition).  Although initially disappointed by the alarming nature of what Google produces for MCADD I have come to realize two things.  First, that the statistics are important for decision-makers to understand what is at stake.  Having those statistics out there will ensure that MCADD remains part of the newborn screening panel and, as more disorders like it are identified, ensure that they too are rapidly incorporated into the screening panels as an easy way to keep these kiddos safe.  There is nothing more important than that.  Second, that the memorial sites are an important component of the grieving process for families that have lost children.  My heart goes out to these families and I wish them an abundance of comfort in any and all forms that it may take. 

Which brings me to the reason I started this blog.  I wanted a place where families affected by MCADD could find a more balanced, non-alarmist, realistic perspective on the day-to-day experience of caring for a child with this condition.  Something that would be more positive.  Somewhere that we could form a community and support one another.  Something that hopefully would be found by that next set of parents who are coming to grips with an MCADD diagnosis that would help them realize that they don't have to be afraid and that they don't have to be defined by the diagnosis.  We have a child with MCADD and he's doing just fine!  With a few easy measures, your child will be fine, too!

Please realize that I am NOT a medical professional.  I am a college-educated, working mother of two young boys.  The information that I share here is based on what our doctors and specialists are instructing us to do and what has worked for our family.  Your doctors may tell you something different and your family may make different decisions based on your own personal values, beliefs and desires.  I welcome you to participate in this community and share your thoughts and experiences, no matter how different they may be.  When we share information with one another in an open-minded way, everyone is strengthened by the knowledge. 

Thus far, this blog has been a way to update family and friends on the things we are learning about MCADD.  In the coming months, I will be concentrating on expanding the information and resources provided here in an effort to make this site a more complete resource for families like ours.  I hope that you will become a regular reader (and commenter!).  Thanks for visiting!

Thursday, January 17, 2013

Processing the Last Few Weeks

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

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

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

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

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

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

Sunday, January 13, 2013

Ten Months

Here is our happy, 10-month old boy!
Despite a trying few weeks, he is still having fun and doing great.

Although I must say that it is getting much more interesting to take these monthly photos now that he is so interested in my signs...
Here are some milestones from the last month:
  • He is learning to communicate with gestures and body language. He can shake his head from side to side for no (as in "no, Mommy, I don't want you to spoon any more peas into my mouth"). He can also bob up and down for yes (as in, "yes, Mommy, you are quite silly and entertaining trying to get me to eat my dinner"). 
  • He is working really hard on forming words. We get a lot of "lalalala" noises now (accompanied by sticking out his tongue) plus he is also trying very hard to say either Daddy, down or dog. We're not quite sure yet, but it is a definite word attempt.
  • Food has been a bit of a battle recently. The pediatrician recommended we keep him on soy formula in case the gastrointestinal upsets of late have a milk allergy linkage (he still thinks it's viral, but just in case) and we're avoiding all dairy for a bit until allergies are ruled out. He is OK with the soy formula, but turning down pretty much anything that comes on a spoon. He would much rather feed himself with his fingers, thank you very much. So, we've been doing lots of steamed butternut squash, steamed broccoli and cauliflower, steamed carrots, noodles, canned fruit, bananas, some avocado and even some very finely chopped chicken breast and fish. Dinners are a messy, messy affair, but sometimes learning how to feed yourself isn't pretty, I guess. Good thing we have the dog to keep the floor under the high chair clean.
  • It's also a good thing he has more teeth to chew all of these new foods. He sprouted the two top left ones just before the new year and has the two top right teeth on their way shortly. One of them is just starting to poke through. We're noticing that he's always feeling around his mouth with his tongue, so I'm guessing that he's pretty intrigued by this whole teeth thing, too. 
  • He is quite stellar at getting from place to place. He crawls as fast as can be and is also very proficient at cruising. He can navigate an entire room with just barely one hand holding onto the furniture or walls. Put him behind a walking toy or a laundry basket and away he goes on two feet without batting an eye. He will even walk with us holding onto only one hand, although he prefers when we let him hold both hands. He is experimenting with taking steps on his own without holding onto anything, but so far we've only caught him doing this a handful of times -- once he forgot to hang onto the couch and took two steps toward me before realizing he wasn't hanging on (once he realized this it was like a looney toons cartoon where the character realizes he's run off a cliff and immediately starts the plummet - in this case, he dropped to his bum to crawl the rest of the way). The other time, he wanted to get from the couch to the loveseat and made the 2 ft stretch between the furniture after calculating in his mind whether he could do it. He was quite pleased when he did. 
  • One of his best movement-related stories is his love for tackling his big brother and his Daddy whenever he catches them laying on the floor. We'll hear him giggle and then it's off to the races before he's crashing onto someone with an enormous smile on his face. He even tackled the dog a couple days ago (she got up and moved to the other side of the room).
  • He can stand on his own for about 10 seconds at a time, but doesn't seem inclined to stand for much longer. I think it's just that he's too impatient and wants to get onto the next thing instead of standing still.
  • I'm getting a little worried about his weight gain since he is essentially the same weight now as he was at his 9 month appointment, but with two major stomach bugs and 5 days in the hospital this month, it was probably inevitable that he would lose a little weight. Fingers crossed that we stay well for awhile and can get him moving in a good direction again quickly.
  • We are finally getting some relief on the sleeping front. I don't know if it was the comfort of having me lay next to him every night while we were in the hospital that taught him that sleeping was actually pretty nice or if it was the cozy new flannel crib sheets we bought for his bed or if he's just been too tired to stay up all night protesting sleep after all that he's been through these last few weeks, but we have actually been getting rather consistent 6 and 8 hour stretches of sleep at night - which is incredible compared to where we were about 6 weeks ago when he couldn't sleep for an hour at a time without needing someone to come comfort him. Fingers crossed that this continues on a good trajectory, too!

Saturday, January 12, 2013

TIP - Packing Your Hospital Bag

I have learned a thing or two about what to bring with me when we are sent to the ER, which has ultimately turned into a hospital admission 3 out of 3 times for us.  Obviously, if it is a dire emergency, don't spend time meticulously packing a bag -- just get yourself to the hospital!!  However, if you have time to throw a few things in a bag or have a friend meet you at the hospital with a bag, here are some tips on what to bring based on our experience:

  • A Couple Changes of Clothing for Your Baby:  Hanging out for a few hours or a few days in clothes that are soiled by the various bodily fluids that spew from a sick child can be pretty gross.
  • A Couple Different Styles of Clothing for Your Baby: Depending on where they put the IV, it may be better to have short sleeves or long sleeves, short pants or long pants, onesies or t-shirts.  I've also found that it is not desirable to have the baby dressed in footie pants/jammies since they often need access to toes for pulse oximetry meters.  Best to have feet baby's free and bring warm socks.
  • Bibs:  You can usually always get a box of Cheerios or a container of applesauce along with spoons, napkins, etc.  You aren't usually offered a bib.  Seeing as how your access to clothing is at a premium, it's best to protect the clothes you brought from meal messes.  I have managed to fashion a bib out of a hand towel that was in our room, but bibs are easier.  Throw one or two in your bag.
  • A Change of Clothes for Yourself:  Let's face it, the vomit is always going to land on you, the diapers are always going to explode on you and the sticky food-stained fingers are always going to be pulling at your shirtsleeve.  You will feel grimy enough after a day or two without a shower.  At least you can have some clean clothes on hand.
  • A Toiletry Bag for Yourself:  Pack a toothbrush, toothpaste, contact lens accoutrements, glasses, hand lotion, whatever you need to stay comfortable and at least mildly presentable for a couple days.  I'd also recommend packing some Tylenol/Advil or whatever your preferred over-the-counter pain reliever is.  There are lots of uncomfortable chairs and lots of stress to deal with and headaches can come with the territory.
  • Cell Phone & Charger:  The battery will run low with all the updates flying around between family and friends on your little one's condition.  Be sure to bring a charger so that you aren't disconnected from your support system because your phone is dead.
  • Easy to Clean Toys, Books and Distractions for Baby:  Even though he was sick, he was still a busy baby the whole time we were hospitalized.  Having a stash of distractions can be critical to keeping your kid from pulling out an IV for lack of anything else to play with.  I brought only toys and board books that were easy to clean/sanitize later so that I didn't worry about bringing any hospital germs home with us.  If your child has comfort objects like pacifiers or soothers, bring those along, too.  For older kids, all of the hospital rooms that we've been in (and even some of the ER cubicles) have had TVs and DVD players, so toss in a favorite movie, too.
  • Distractions for You:  I spent a lot of time quietly holding LB while he napped and, since I'm not much of a TV person, I was glad that I brought along my eReader (and charger!) so that I could read, do email, browse the web, etc. during quiet times.
  • Medications for You and Your Baby:  Some hospitals don't have specialized MCADD things like polycose and carnitine on hand readily.  If your kid takes it regularly or is being supplemented by it due to illness, bring it along.  Same goes for your medications.  If you have allergies and you spend two days without your allergy meds, you're going to start getting pretty miserable during a time that you need to be at your best.
Things you probably don't have to bring (or bring in large supply):
  • Formula:  Once you're admitted to a room, formula is usually the first thing they bring to you.  They have most of the popular brands (Enfamil, Similac, Gerber) and most variations (regular, soy, gentle, etc.). Bring enough for the ER, but after that, you'll be covered.
  • Diapers/Wipes:  Ditto here.  Once you're admitted to a room, the nurses will bring you whatever size diapers you need along with wipes.  Bring enough for the ER, but the pediatric floors of the hospital will have you covered.
  • Food/Snacks:  The ER can bring your baby Cheerios/Crackers/etc.  Once admitted to the floor, unless your child has diet restrictions, you can usually order anything you want off the food service menu for him/her.  For kiddos not on finger-foods yet, pediatric floors have jars of baby food at the ready, too.  In terms of food for yourself, parents can usually order guest trays (at a cost) from the food service menu during their posted hours.  There are also vending machines and sometimes even pre-made food available from the nurses that you can access after hours, if necessary.  Bringing a snack for yourself probably isn't a bad idea, but it's certainly not a necessity.
  • Blankets:  Someone will always bring you a blanket if you or your baby are cold.  That said, it doesn't hurt to dress both yourself and your baby in layers so that you can shed/add clothing as conditions dictate.
What is your experience with hospitalizations?  What would you add to the list or delete?

Saturday, January 5, 2013

Yet Another Trip to the Hospital

Yes, you read that correctly.  We were in the hospital with LB.  Again.  That's twice in two weeks if you're keeping track.  No fun at all.  We are very ready for cold/flu/gastrointestinal nastiness season to be O.V.E.R!

This bug started on Thursday afternoon.  LB had been doing just fine all day.  I picked him up from the sitter.  She told me he ate well, napped well and had just finished a 4 oz bottle at 3:30.  We loaded into the car, drove 5 minutes home, unloaded from the car and were taking off jackets when Husband announces that LB just threw up in the hallway.  He has never vomited before, but he spits up a lot (just like our older son did when he was a baby...hence why all of the baby pictures of our boys have them wearing bibs...usually wet ones), so I was surprised.  Sure enough, there was LB sitting in a pool of vomit.  Gross.

Vomiting is something that's very dangerous with MCADD because the food doesn't get digested and he is essentially fasting (which is bad).  I called the sitter to double check when his last meal was before 3:30 because now we couldn't count the 3:30 feeding since it had just puddled in our hallway.  She said he ate his last bottle at 11:15, just before he ate some solid food for lunch.  It had now been a little over 5 hours since his last meal.  We were good for another 3 hours, but that meant he had to keep down his next feeding.

Thinking it may have been a fluke, we made a bottle for him and he prompty threw it up.  We waited another 30 minutes, tried again and he threw that up so we called the metabolic clinic.  They told us to start his polycose solution.  He needed to eat 0.5 ounces of polycose every 15 minutes for the next hour in order to stay in the clear and we needed to call them back in an hour to let them know how he was doing.

In the next hour, he drank a whopping total of 0.25 ounces of polycose and threw up 3 more times.  We were already packing our hospital bag when we called the metabolic clinic back.  It was about 7 pm when we got everyone into the car.  We left a key with the neighbors to let the dog out in the morning and we changed our older son into his jammies and dropped him off for a sleepover night with his sitter (at his choice -- we asked him if he wanted her to come over to sit with him for awhile or if he wanted to go sleep at her house and he wanted to go there).  This ended up working out nicely because this meant Husband could stay the night with us and since our plan was to go directly to Children's Hospital to avoid another IV incident like we had at the other, closer hospital, it was going to be about twice as far for Husband to run back and forth from the hospital to home.

When we got to the hospital, I was a little worried because there was a waiting room FULL of sick kids waiting to be seen.  Thankfully, as we were getting checked in with the desk, they already had LB's file ready and the metabolic clinic had already called ahead to let them know we were on our way.  After getting checked in and giving them our emergency letter, we sat in the waiting room for less than 5 minutes before we were called back.  This was good because it was already after 8 pm and it was rapidly approaching 8 hours since LB's last feeding (and he can only go 8 hours without eating when he's well anyway). 

We were seen by the doctor quickly and the IV situation was much improved at this hospital.  The nurses were able to draw bloodwork with the first poke (his inner elbow), but weren't able to advance the catheter to start the IV at that site.  They poked him a second time (left hand) and the IV was flowing.  Not bad.  Now, LB just had to keep up his end of the deal -- stop vomiting and start eating. 

Unfortunately, the second part proved a bit more difficult.  He was still vomiting in the ER and he wasn't very excited about drinking anything (do you blame him?).  So, within a couple hours of walking through the door, we were admitted.  It's a good thing I packed extra clothes this time because all of the vomit was landing right on me.  The vomit was all polycose (which is essentially sugar water), so as it dried, it was like I had patches of heavily starched clothing that was stiff as a board.

Overnight was a bit better.  The anti-nausea drugs they were giving him through the IV quelled the vomiting and he was eating a little bit every couple of hours.  I sat holding LB in a recliner.  Husband stretched out on a very uncomfortable couch.  The nurses woke us every couple hours, but that was a good thing.  We were both so tired, I'm sure I would have slept through any alarm I would have set.

In the morning, we were seen by a gaggle of pediatric residents (they literally have 8 people on a team since it is a teaching hospital and all 8 of them crammed into our room to chat with us) and a doctor from LB's metabolic clinic.  They all agreed that as long as he was eating 2/3 of what he normally does and didn't have anymore vomiting or start having any diarrhea, we would be going home that day.  He had likely caught another gastrointestinal illness and it would work its way though his system just like the others had done.  As long as he was eating, he would be fine.

By mid-day, LB was going about 100 mph.  He wanted to play.  He wanted to crawl (which he couldn't do on the hospital floor -- ick!).  He wanted to pull on that thing that was attached to his left hand.  Keeping him from tugging on the IV was very difficult this time because it was so accessible by being in his hand.  He was chewing on it, tugging on it, trying to use that hand even though it was splinted...  Needless to say, at about 1 p.m. I noticed his splint was sopping wet. It was too wet for it to be just from him sucking on it when we weren't looking (trust me, we were looking about 99.9% of the time), so I called in the nurses to take a look at it.  Sure enough, he had dislodged something and as they were attempting to salvage it, he was squirming around so much that they lost it.  No more IV. 

However, when the docs came back to check on us they were unconcerned about the IV.  They wanted to see him eating solely on his own at this point anyway and we were on target to get out of there by dinnertime.  We stopped at the pharmacy to fill his prescription for more anti-nausea drugs (just in case he started vomiting again) and were on our way home.

We picked up our older son first thing and he was very happy to see us and he told us about how much fun he had sleeping at his sitters house.  We had forgotten to pack his toothpaste, so he told us about how her toothpaste tasted different.  That was the extent of his "trauma" from this experience.  He was fine...until he wasnt.

Last night, he started vomiting.  LB was on the mend and now his big brother was just getting started.  Oh well, back to toast and gatorade for us again.  At least we're home.

Husband and I have been wracking our brains trying to figure out how the kids keep getting sick like this. Sure there has been a lot of talk on the news lately about flu and nora-virus outbreaks in the area, but we literally haven't left the house since Christmas.  We have been to ZERO public places...except for church.  We went to church the Sunday before each illness started.  As much as it pains me to say it, in the interest of keeping ourselves AWAY from the hospital for the rest of this unprecendented season of viruses, we are going to start avoiding all crowds for the foreseeable future, including church.  Two hospitalizations in two weeks and three in the last three months is plenty.  I have no plans of adding to that total anytime soon.