MCADD Children's Book!

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

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

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

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

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

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

Back at the Keyboard!

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

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

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

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

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

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

The Challenging World of FODs

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

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

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

A Year of Gratitude - Consumer Task Force Post

I am very proud to announce my first blog post as part of the Baby's First Test 2013 Consumer Task Force on Newborn Screening!  Please visit http://www.babysfirsttest.org/newborn-screening/blog/a-year-of-gratitude to read about how newborn screening saved my baby's life...and prompted me to become an advocate.

Metabolic Appointment

We had an appointment scheduled with LB's specialists at Children's Hospital for the last week of October. It had been on the calendar since August, but it just so happened that it ended up being the day after he was released from the hospital, so the timing was pretty good.

We talked to his doctors briefly about his recent illness and how things were going (very well, by the way). They assured us that whenever he isn't feeling well and not eating, the safest thing to do is to give him IV fluids. His weight was down a bit (16 lbs, 8 oz) from where it normally is in the 50th percentile, but they said it was likely due to the illness and that they would expect him to make up for lost ground rather quickly.

The real purpose of the appointment was to get our next set of feeding instructions for him. Up until this point, we had been feeding him every 3-4 hours throughout the day (sometimes forcing him to eat if we looked at the clock and felt it had been too long) and giving him one longer 6-hour stretch of sleep at night before setting the alarm to wake and feed him. Based on his weight of almost 8 kg, we could now let him sleep for 8 hours at night and they told us that we should start treating him more like a "normal" kid during the day (i.e. feed him when he's hungry, not based on the clock). The goal by the time he is a year old is for him to eat like any other kid during the day (breakfast, snack, lunch, snack and dinner) with the addition of a hearty bedtime snack and for him to be able to sleep for 12 hour stretches at night.

Although that sounds simple, it will definitely be a mindset shift for us. I feel like we'll always be looking at our watches and trying to keep track of when and how much he's eating just because we know that he needs to eat consistently in order to stay healthy.

The 8 hour stretch at night will also probably be tough at first. He hasn't been a great sleeper at all lately with the whole teething thing, then the illness, then the hospitalization. Add to that our forced middle of the night wakings that we've been doing his whole life and I'm starting to wonder if we're conditioning him to wake and eat throughout the night instead of conditioning him to sleep for progressively longer stetches on his own. I know that lately I spend more of my nights in the rocking chair in our nursery than in my own bed. I don't say that because I'm complaining. I just say it because it is fact. I don't mind it one bit. From the day that we found out about his MCADD, I feel like it is a privilege to wake him and hold him in the middle of the night as I feed him. We are so very lucky to have him and so very lucky that the hardest thing we have to do to keep him safe is set an alarm and feed him every few hours at night. There are plenty of kids who require far bigger health interventions than he does and I never lose sight of how fortunate we are that 1) we know he has MCADD, 2) we know how to keep him safe and 3) that we have him in our lives at all. Before newborn screening, kids with this deficiency were in grave danger because they were outwardly healthy and there was no way to know about this problem until it was too late. In any event, sleeping for 8 hours sounds great, it's just going to be a bit of training for ourselves and for him to get to that point.

So, the visit went well. The doctors are very pleased with how well he is doing and how well he is recovering from his illness. We go back to see them when he is a year old!

Our First Hospitalization

We have had a bit of a rough week...

LB has been cutting his first teeth. This has made him fussy and cranky, especially at night. He has also had some seriously messy diapers (a teething side effect that I remember from our older son, too). It also started to affect his food intake, which with his MCADD is very bad. We were on the verge of calling his specialists at Children's Hospital on Friday night because his intake was down about a third from where it normally is, plus those awful messy diapers. Thankfully, at 2 a.m. when we were contemplating the call, he magically sucked down a full bottle and we thought things were getting better.

On Saturday, his second tooth appeared and he seemed happier. He was having hourly diaper blowouts, but was eating just fine (slightly less than normal, but nowhere near a third less than normal where we start getting concerned) and playing happily. Then, by the end of the day, he was very mad. The diaper issues had caused some pretty angry diaper rash and his tummy was very hard. I could tell he was uncomfortable, so we called the pediatrician who suggested we switch him to the "gentle" version of his formula to help with the gassiness and do some baking soda baths along with a seriously thick coating of diaper rash cream to make him more comfotrable. A quick run to the store before bedtime for the necessary supplies and we were on our way to feeling good again.

On Sunday, the rash was much improved, the diaper messiness had subsided considerably (2 blow outs for the entire day instead of 8!), and his food intake was up a couple ounces from the day before. We definitely thought we were out of the woods.

On Monday, we took the boys to the sitter, but picked them up an hour and a half early so we could take them to the flu shot clinic at the pediatrician's office. Usually when I pick up the boys, their sitter proudly tells me that LB ate 12 ounces and had a great day (she considers it her personal mission to feed the child at least 12 ounces regardless if he's hungry of not...did I mention she is a grandmother? =). Our regular sitter was actually out of town, so her friend was substituting for her for the day. When she came to the door, she looked worried and LB looked terrible -- he had red circles around his eyes and wasn't as happy and smiley as he normally is when I pick him up. She said he didn't have a great day, kept turning away from the bottle on her and had been having messy diapers again. She said he had only eaten 5.5 ounces while he was there.

It was as if someone sucked the air out of my lungs. I rationalized that it was probably just because she was an unfamiliar face and he didn't want to take the bottle from her (even though she is a Grandma of 15 and has plenty of experience with babies!). I made a bottle for him in the car and as soon as we got to the pediatrician, he ate all 4 ounces for me. Both boys got their flu vaccinations and as we were leaving, I asked if our pediatrician was in the office today. The receptionist said he wasn't so I just left it at that. He had eaten, so he was probably ok.

On the way home, I started adding up all the messy diapers, the decreased formula intake and the telling red circles around LB's eyes. My gut told me we needed to call his specialists, just to be sure he didn't need to start on his special sugar-solution formula for a little boost while he was getting over this teething thing (or was it a stomach bug now? how could you tell?).  Husband agreed with me, so we called them as soon as we got home.

We reached our genetic counselor first, told her what was happening and she said she would talk to the doctor and get right back to us with a plan for what we should do. The phone rang not five minutes later. She said the doctor was concerned and that we should go to the ER. LB was probably getting dehydrated from all the diarrhea and the decreased food intake wasn't helping. She said he would probably just need to be on some IV fluids for a few hours and they might be able to send us home again.

I gathered a supply of diapers and formula, called a friend to stay with the little man and headed for the ER. Our friend couldn't get to the house right away, so Husband could meet me at the ER after she arrived to play with our older son for the evening. The ER experience wasn't the best, but wasn't the worst either. Our emergency letter that was supposed to get us to the front of the line and into a room with an IV running as quickly as possible didn't quite work out as expected. The guy at the desk and the triage nurse both refused to look at it, instead telling me to show it to the doctor once we were in our room. We were sitting in a curtained room within about 20 minutes (which isn't too bad) and saw the doctor almost immediately thereafter. She looked at LB, read his letter and ordered his special dextrose IV fluid (liquid sugar) along with some lab work. The doctor told me he was slightly dehydrated and that after running fluid for a few hours, he'd probably be able to go home. The unfortunate thing was that the IV fluid didn't arrive until TWO HOURS after we had arrived at the ER. It was a good thing he was only slightly dehydrated. Things could have gotten really dangerous if he was really in metabolic crisis and his IV was slightly delayed by two hours!

LB was a real trooper in the ER. He snuggled with me and took a couple nice naps. He was slightly annoyed by the IV because they had to put it in the crook of his arm (the best vein they could find) and placing it there meant that they needed to strap his arm to a little board to keep it straight. His overwhelming desire to suck on that particular hand got the best of him from time to time and he would get mad, but I was usually able to quickly distract him with a toy or a lullaby. All of his labs came back within normal range, so the ER doc assured us that this treatment would really give him the boost he needed to get well.

Things were going fine and after a couple hours of IV fluids, he was already looking much more alert, with the circles around his eyes disappearing, BUT he still wasn't very interested in eating and then he had this wildly impressive diaper explosion (that we were happy to have happen in the ER instead of in our house where we would have had to clean it up). At that point, they said they were admitting us for the night.

We got to our room around 10:30 p.m. Most of the other kids on the floor must have already been sleeping for the night because the nurses were focused exclusively on us for the next couple hours. I filled out a bunch more paperwork, they set us up with a stockpile of diapers, wipes, blankets, formula and toys. They also asked me if I was hungry, which I was (I had the foresight to pack a PB&J, but had been at the hospital since 4:00 p.m. with only that sandwich to eat since lunchtime), so they brought me a deli sandwich, some fruit and a bag of potato chips which I happily gobbled up.

We slept curled up on the pullout couch since LB wasn't happy in the hospital crib and by sleeping on the couch with me, I could help keep his arm straight so that the IV could continue to flow unobstructed (he could bend his arm slightly even with the arm board, so everytime he did, his IV would stop flowing and start beeping). It was a restless night of sleep for me, but LB slept rather peacefully despite all the nursing checks every half hour or so. He woke up bright eyed and bushy tailed at around 5:30 a.m. and he was literally a brand new kid -- alert, happy, playing, drooling, flirting with the nurses. It was amazing to see the difference from the night before.

Once he was awake, the IV beeping became incessant as he kept trying to use his arm so the nurses made the executive decision to disconnect it. The doctor came in to see us and said that his morning labwork had shown improvements from the night before (he referred to his numbers as "stone cold normal" now) and as long as he ate well and didn't have any more diaper explosions, we could go home after lunch. We stuck to that plan, LB happily drank his bottles as well as munching some cheerios and applesauce (photo below) and sure enough, were headed home around 1 p.m. -- hooray!

I took a little nap that afternoon while Husband watched LB. By the time it was time to go pick up his big brother from the sitter, I felt like our life was pretty much back to normal.

LB was acting fine again on Wednesday, but I didn't want to send him back to the sitter quite yet -- I needed to keep him in my sight until I was absolutely sure he was ok. It was a good thing I did because the messy diapers returned after his morning nap, so we followed up with a visit to the pediatrician who told us that the stomach bug that is going around typically lasts for 10-14 days. The dirty diapers would last a little while longer, but as long as his food intake stayed up, his labs from the hospital indicated that he was getting enough nutrients from his formula (before it was violently expelled from the other end) that he would likely not have to go back to the hospital. His advice was good and the diapers gradually returned to normal over the next couple days. His food intake continued to gain ground until we were back to normal by the weekend. What a relief!

So, our first hospitalization turned out fine. I sure would rather have not had to take him there, but the blessing of his diagnosis is that we know that we have to catch things like this early and act aggressively to prevent him from getting sicker. That's exactly what we did and he bounced back extraordinarily quickly. Honestly, the whole experience was probably harder on his Mommy than it was on him! 

4 Month Immunizations & 1 Mad Baby

We had a bit of a scare with LB this weekend. He went for his 4 month check-up on Friday and all was well, but AFTER he came home from the doctor, he wasn't quite himself. He was mad and crying (he's usually super happy and he hardly ever cries unless he's hungry or needs a new diaper). We suspected he was a bit fussy from the shots, so we gave him some Tylenol, but that didn't help either. He also started coughing and his nose started running. He was so mad that he would barely eat anything.

We weren't sure if the coughing and stuffiness was from all the crying or if he might have picked up a virus while he was at the peditrician, but the fact that he was barely eating was really concerning. Our instructions from the metabolic clinic are that if he eats 1/3 less than he normally does (they call this "the rule of thirds"), it is cause for concern and we should give them a call. All weekend long, we were practically force feeding the poor kid and he was within an ounce or two of the rule of thirds. I got nervous and called the clinic on Saturday night. They reassured me that he would be ok as long as he didn't drop below 20 ounces for the day (he normally eats 30-32 ounces). They also suspected the shots combined with a possible cold were to blame. We kept him dosed with Tylenol and reverted to our routine of waking him every 3-4 hours during the night instead of every 6, just to make sure he had enough nutrition in his system.

We had a couple of tough nights, but by today, he was right back on schedule. It's amazing how quickly kids bounce back from illnesses.

Failure and Acceptance

LB turned six weeks old yesterday. As I write this, I am thawing the final serving of breastmilk that he will receive. It has already been more than two weeks since he last nursed. Despite what I believe were my best efforts, breastfeeding lasted a mere four weeks and my freezer supply only another two. Writing these words pains me. I REALLY wanted breastfeeding to work. I tried VERY hard and I failed. I'm still working on being OK with it.

We seemed to do just fine in the first few days of LB's life, but things deterioriated very quickly. The MCADD diagnosis on Day 3 with instructions to feed, feed, feed him every 2-3 hours sent us into a panic. I erred on the side of caution and had the boy at my breast every 2 hours for the next 4 days not caring the slightest bit about the quality of his latch or the condition of my body so long as he was eating. That lasted until Day 7 when my nipples were so raw and painful that I could barely hold him close to me, let alone provide one more feeding. This is when the first case of mastitis set in, likely because of some combination of 1) the ugly condition of my nipples, 2) the stress of his diagnosis, 3) the sleep deprivation and/or 4) the stress of his delivery, in general.

We resorted to pumping and botttle feeding him with breastmilk exclusively until my nipples healed and that took about a week. At the point that I was gradually reintroducing him to the breast, I was still in quite a bit of pain as he nursed. It felt like I was dispensing shards of glass through my nipples instead of milk. After a consultation with a lactation specialist at the hospital, we discovered that I had a secondary yeast infection called thrush (likely caused by the antibiotics I was on for the mastitis). Subsequently, both LB and I went on medication to clear that up. It had only been two days since we finished the mastitis antibiotic and here we were -- already back at the pharmacy for more drugs...and yes, I was still doing a lot more feedings by pumping and bottling than I was by straight nursing which seemed such an institutional way to feed a newborn baby to someone who was used to nursing (I nursed my older son until he was 7 months old).

The first weekend of April was glorious. Not only did we have beautiful weather outside, I felt like the metaphorical clouds that were hanging over the nursing situation were also lifting.  LB and I were both a week into the thrush recovery and I was able to breastfeed him without biting my lip or curling my toes in pain. Finally! We achieved a healthy nursing relationship. Finally! I was able to conduct a night feeding in less than an hour and a half (how long it takes when you have to add the steps of pumping, sanitizing the pump stuff, bottling the milk, and sanitizing the finished bottle to the usual steps of changing a couple diapers, feeding, burping and rocking the baby back to sleep). I was SO happy. I thought we had made it out of the woods. After another week of finishing the thrush medication, we would be home free.

I was wrong. The mastitis came back the very next day.

As I was pacing through the house, holding LB akwardly away from me to prevent him from touching my very sore breasts, the reality of my situation hit me like a ton of bricks. I was spending so much effort trying to make breastfeeding work that I was missing everything else. My typical day consisted of pumping every 3 hours and feeding LB the pumped milk every 2-3 hours. This meant 20 minutes to prep, pump, store milk and clean my pump parts every three hours around the clock, followed by at least 20 minutes to prep a bottle, feed, burp and give LB his thrush medicine every two to three hours around the clock. In addition to that, there was a daily load of laundry to gather, wash, fold and put away and a twice daily regimen of sanitizing bottles -- both aimed at eliminating the yeast that was causing the thrush from our clothing and his eating vessels. In a single 24-hour period, I was devoting at least 8 hours just to trying (in vain, it seemed) to make this breastfeeding thing work.

The rest of my days were spent attempting to spend at least a little bit of time paying attention to my older son and my husband while also putting breakfast, lunch and dinner on the table for the family, keeping up with other necessary household chores (laundry, grocery shopping, dishes, etc) -- the other stuff like vacuuming and general tidying up were already out the window -- and getting a couple hours of sleep. In short, I was exhausted and that made me grumpy. That led to me feeling even more crummy and also quite guilty for not having the time or energy to spend any "quality" time with my boys or to really step back and enjoy the early days of LB's life. I was either missing it entirely or I was walking through the day as too much of a zombie to appreciate it.

I saw myslef holding LB at that moment (in my forearms, as far away from my breast as I could) and realized just how broken this situation was. The best part of breastfeeding for me last time (with my older son) was the physical closeness we had. We snuggled, we bonded and it was so rewarding. I knew that I wasn't establishing that same bond with LB because the breastfeeding itself was so physically painful that not only did I not want to nurse him, here I was holding him as far away from my chest and the beating heart that he undoubtedly found so comforting, as I could. The psychological guilt that I felt at that moment -- wanting to hold my beautiful, warm, snuggly baby and at the same time not wanting him or anyone else to touch me was THE WORST -- a dagger straight through my heart. I realized that I wasn't hugging my older son or husband tightly to me anymore either. This was all wrong!

Walking through the house that night, I was crying because I wanted breastfeeding to work so badly, but I was also crying because I knew that it wasn't working and that I needed to move on before it consumed me, threw me into depression and/or damaged the establishment/maintenance of a bond between me and my boys. In some respects, it was the hardest decision to make, but at the same time, I knew it was the only decision I could make. So much more was on the line here than just the uncomfortable stares I would start receiving from other moms as I mixed up a bottle of formula instead of donning a nursing wrap. This was my family and I needed to start feeling like a Mom again, not just like a walking advertisement for La Leche League. I needed to let go of breastfeeding and start hugging my kids and my husband again.

I visited the doctor the next morning for yet another course of antibiotics to clear up yet another bout of mastitis and I called the lactation nurses for instructions on how to taper off my milk supply. I was finished with breastfeeding.

It's still hard for me sometimes to admit that I failed at breastfeeding. It seems like such a natural thing, like something that automatically works unless you do something to break it and I must have somehow broken it for it to have been such an epic failure, but I know that I did everything I could. Every single doctor and nurse and lactation consultant that I worked with over the course of those 4 weeks told me that I was doing everything right and that they couldn't explain why I kept getting infections. They also all told me that no one would fault me for quitting if that's what I chose to do. They assured me that millions of babies eat formula and turn out just fine.

I wanted to believe them and I did believe them, but I also knew that I had to give myself permission to quit before I could move past the failure of it all and into acceptance. That's where I am now. I haven't pumped in nearly a week and my last trip to the grocery store included a sizable purchase of powdered infant formula. I have removed the nursing wrap from the diaper bag and packed away the breastpump.

LB takes the bottle happily and is thriving in every way. For the last two nights, he has woken up at around 4 a.m., not because he's hungry, just because he wants to be snuggled in my arms. I hold him close and he squeaks his little infant squeaks before closing his eyes and drifting off to dreamland snuggled against my chest and the comforting sounds of my heartbeat. We are bonding and I know that he loves me. I am happy.

My older son has returned to running headlong into me when I pick him up from the sitter and whenever the mood strikes him to come hug his Mommy. I can snuggle in bed next to him to read him his bedtime story without worrying about whether he is going to bump me in the wrong place during the unpredictable and exuberant wiggling as we get to his favorite parts of the book. We are back in a comfortable and affectionate place and I can return his love for me with great big hugs of my own. I am happy.

Of course, Husband has been uber-supportive of me on this from day one. He supported me in my efforts to make it work and he supported me in my decision to call it quits. He is getting his happy wife back because I am happy. Deep down I know that this is the right decision

Breastfeeding this time around may not have turned out the way I was expecting/anticipating, but it is what it is. As long as LB gets fed and snuggled, everything will be just fine.

MCADD - It's Genetic!

So I mentioned yesterday that LB has MCADD because his MCAD enzyme isn't working. What exactly causes that to happen? The answer is genetics. Your body has genes that tell it to make enzymes and his genes that make the MCAD enzyme are what isn't working.

Having errors in your genes isn't all that unusual. Our genetic counselor told us that everyone has errors in their genome, typically around 20. Genetic errors aren't usually problematic because you have two copies of each gene and most of the time, at least one of those copies is fine. The body uses the "good" copy to do what it needs to do. Unfortunately, BOTH of LB's genes that tell his body how to make MCAD either aren't there or are broken, so his body honestly doesn't know how to make the MCAD enzyme. It's kind of like his body's recipe book has that page ripped out or somebody spilled something all over it and it's illegible. As much as he may want to make that enzyme, he just doesn't know how.

How did he end up with two bad copies of the same gene? It's his parents' fault!!  Husband and I just happen to have the same errors in our genetic code and we both passed the "bad" copy of the MCAD gene onto LB. It's likely that Husband and I are both just carriers of the condition. We have one good copy of the MCAD gene and one bad copy, but our bodies can use the good copy to make the enzyme and we are fine. Unfortunately, between the two of us, we didn't give LB a single good copy to work with. With both of us being carriers, the chances of us having a baby with MCADD are 1 in 4. The process looks something like this...

We know through newborn screening that LB has MCADD. That is, he has two bad copies of the gene. We now know that both Husband and I are at least carriers of the condition (Rr) since we produced offspring with one bad copy from each of us (rr). If we are both carriers, then there is a chance that our older son, LM, may also have inherited a copy of our bad gene. He could also be a carrier (Rr) and there is a 50% chance of that. The best case scenario would be that he inherited only our good gene (RR) and there is a 25% chance of that. Since the state was screening for MCADD two years ago when he was born, it is unlikely that the LM has MCADD, but they suggested we re-test him just to be sure -- his sample card may have been mishandled or the wrong test done on the wrong blood spot. Again, it is unlikely that he has it, but we're going to go for "better safe than sorry."

Our genetic counselor told us that in some situations, infant screening has identified the condition in a parent (since testing for it has been only relatively recent). With MCADD, the parent happens to be lucky enough to not have ever been very ill to where their life was in danger due to fasting, but knowing they have the condition going forward can be very helpful for future illnesses, surgeries, etc. Knowing that there is also a possibility that one or both of us could have MCADD (although unlikely), we are both going to be tested to be sure. If one of us ends up testing positive for MCADD, our genetic situation changes slightly...

If one of us were affected with MCADD, that person could only pass a bad copy of the gene onto our child. The unaffected parent could pass on either a good copy or a bad copy. Thus, this would give us a 50-50 chance of having a child with MCADD and all of our children would at least be carriers of the condition.

I doubt either of us has MCADD, but it's also so statistically rare that two people with the same genetic errors have children together, so I guess anything is possible. I'm still really thankful for newborn screening, though. Without it, we would never have known LB had this condition and we certainly wouldn't have know that we were carriers of it either.

MCADD Explained

As promised, here is a little more information about LB's medical condition, MCADD.

MCADD is a fatty acid oxidation disorder found in about 1 in 15,000 babies. Fatty acid oxidation is the process your body uses to turn fats into energy and fatty acid oxidation disorders occur when certain enzymes that break down these fats into energy are either missing or broken. In MCADD, the Medium Chain Acyl-CoA Dehydrogenase enzyme is affected and individuals with MCADD are unable to break down medium chain fats from foods they eat and are also unable to break down medium chain fats stored as body fat. The process looks something like this...

So, if the body can't use the fats, what does it do with them? Basically, it treats them as toxins. Our bodies have substances called carnitines that serve to get rid of waste products.  LB's body is going to end up making a lot of carnitines because not only will they have to get rid of all the "normal" toxins that our bodies need to get rid of, they also have to get rid of the fats that he can't metabolize into energy that his body "thinks" are toxins. The doctors will monitor his carnitine levels periodically and may need to supplement his carnitine levels if he's not making enough.

MCADD can cause bouts of illness called Metabolic Crisis which can include sleepiness, irritability and poor appetite. These can be followed by fever, diarrhea, vomiting and hypoglycemia. Anytime that he is losing nutrients and unable to replenish them, he is in trouble and needs to go to the hospital for a glucose IV, which is, in essence, readily accessible energy for his body to sustain metabolism. If he is not treated quickly for metabolic crisis, he can have breathing problems, seizures and possibly even slip into a coma or die (scary!). Thankfully, metabolic crisis can be avoided simply by not allowing him to fast OR if he is fasting (because he can't keep food down due to illness, etc), we have a can of special formula to feed him. It is called polycose and is basically just pedialyte with HUGE amounts of sugar that his body can immediately use for energy, thus maintaining his metabolism.

Finding Out

Last night during dinner, Husband's phone rang and he excused himself from the table to answer it. I was only half hearing Husband's half of the conversation because of the conversations already underway at the dinner table with my Mom, Husband's parents and our older son, "LM." I gathered that it was someone in the medical profession that had called, but I assumed it was just the hospital phoning us with their discharge survey since they warned us that we would get a call in the next few days. At the point that I heard Husband ask "will he be able to live a long, normal healthy life?" my heart started to race. Something was wrong. Something was very wrong. I started to have trouble catching my breath and even though everyone else at the table continued talking, the only thing I could hear was Husband continuing this phone conversation in the hallway outside our kitchen.

The phone call was from our pediatrician's office.  "LB's" newborn screening had come back abnormal for a metabolic disorder called MCADD (Medium Chain Acyl-CoA Dehydrogenase Deficiency). It is a recessive genetic disorder where the MCAD enzyme is either missing or not working properly. The job of this enzyme is to break down medium chain fats. Since the enzyme doesn't work, medium chain fats cannot be broken down and the affected person cannot derive any energy from those foods/fats. This is problematic because energy from fats keeps us going when our bodies run low on their main source of energy (glucose) on occassions when we don't eat for a stretch of time (like when we miss a meal or when we sleep). In a person with MCAD, once the glucose is used up, there is no energy reserve in the form of fat and a metabolic crisis can occur.

The pediatrician was calling to check on LB's well-being, to make sure that my milk had come in, that he was eating regularly and to instruct us that he has to eat every 2-3 hours or he could become very very sick. He told us to come to the office when they opened at 9 a.m. and he would go over more of the specifics with us.

Needless to say, we were panicking. We were keeping track of when he ate already (force of habit since they make you do it at the hospital), but we were even more intent on monitoring his feedings now that we knew this. All through the night, we set our alarms and woke him every 2 hours to make him eat.

The doctor's appointment confirmed that he was gaining weight since he had left the hospital and provided us with some additional information on what our next steps would be.  LB would need to come back on Monday for his standard first visit to the pediatrician and for a blood draw that would help them to confirm the diagnosis from the newborn screening. We were told that sometimes if a newborn screening (done with drops of dried blood) came back abnormal, the follow up test (done on liquid blood) would come back just fine, but since LB's test results were 30 times the normal level, it was unlikely that this was a fluke. They were expecting a confirmation of the diagnosis. We would also need to schedule an appointment with the metabolic specialists at Children's Hospital to get further information on what we should be doing. For the time being, our main job was to make sure that he ate at least every 2-3 hours and if he went longer than 4 hours without eating to take him to an emergency room to get an IV.

We were also advised that we would have to watch him very closely when he gets sick so that he doesn't run out of energy due to vomiting, lack of eating, etc. The doctor actually said that in a way, LB would be easier to treat than an average child because with an average child, doctors always have to weigh the benefits of sending them to the ER for fluids to rehydrate versus using a wait and see approach at home with popsicles and pedialyte. With LB, there would be no threshold. He would be sent for fluids immediately. No questions. No delays.

Although it was initially all very scary, we were reassured that this was a very treatable condition and that knowing he had it was the most important thing. If we hadn't known, we could very well have let him sleep longer than he should have and the consequences could have been tragic. The most dangerous time for kids with this disorder are the first few days of life (when breastfeeding is not well established or mom's milk isn't yet in) and during times of illness (when parents waffle about whether they should seek medical attention or attempt to treat an illness at home with fluids and TLC).

In less than 24 hours, my emotions had gone from blissful love of our newborn to fear and uncertainty and panic to largely thankfulness (and more blissful love, of course). I was thankful that the lab technician who fed those little drops of dried blood through the machine spotted the abnormality late on a Friday night and called the metabolic specialist to report it. I was thankful that the metabolic clinic contacted our pediatrician with information that could save LB's life and that our pediatrician called us after hours on a Friday night to relay all this information. He told us that he had trouble locating our contact information and had to call the postpartum unit at the hospital to get our contact info off of my chart (and convince them that the situation was urgent enough that they should ignore the HIPAA laws that would ordinarily prevent them from sharing this information without a signed consent form from us -- something they could only get if they had our contact info in the first place). When he got off the phone with the hospital, he had multiple phone numbers for us and our home address and he said he was prepared to show up on our doorstep, if necesary, to check on LB's welfare that night to make sure he was ok. What a great pediatrician!

While we certainly would rather this not have happened to LB, it seems like it will be manageable and he will live a healthy, normal life. We will just need to be extra attentive to him during his first year (delaying the holy grail of parenthood -- having your kid sleep through the night -- for a little while longer) and keeping an eagle eye on him to make sure he's getting enough nutrients when he has an illness.

We want to make sure that LB remains healthy and happy and we will do everything in our power to make that possible. We also want to make sure that he lives a normal life. We don't want this diagnosis to dominate his existence. He is not a "sick" kid. He's our adorable little boy, who may very well need an extra snack now and then. That's all.