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!

Fifteen Months

It has been a few months since I've done a monthly update, but there's so much going on in LB's life right now, I couldn't help but give a little update.

Other than a couple typical toddler runny-nose incidents that were snotty and messy, but didn't seem to bother him one bit, he has remained 100% healthy.  Hooray!

We're starting to get a lot more words.  I read a few articles that mentioned children with MCADD can have speech delays and since LB wasn't really talking at all, I was starting to wonder whether I should ask the pediatrician about it.  Then, all of a sudden, we went from a vocabulary of "this," "that," "yes," and "daddy" to a whole lot more words -- ball, catch, dog, juice, night-night, mommy (hooray!!), kiss, and probably a few others I'm not remembering right now.  In any event, I'm a whole lot less concerned about his speech than I was a month ago. 

He is definitely a boy on the move!  He has been walking since January, but is very adept at it now.  He can walk/run easily on all surfaces and doesn't trip and fall all that often anymore (this makes me happy because one of my least favorite things is when my boys face-plant on the concrete - it just makes me cringe to watch it and not be able to stop it).  He is also discovering climbing and can successfully work his way up onto all sorts of high furniture - the kitchen table, the couch, the beds.  He has also figured out that if he can't get up onto something, he can always go grab the step stool from the bathroom (the one his older brother uses to reach the sink) and set it beside the item he'd like to climb -- voila! 

His favorite toys right now are all things sports. He loves all types of balls -soccer, foot, basket, base, bowling, golf, etc. - along with all the long sticks that accompany them.  He can swing a mean golf club with pinpoint accuracy on your shin.  He can play catch with us for 15 minutes at a time and not tire of it one bit.We are convinced that he is going to be our sporty kid because he is literally obsessed with this stuff.  Thankfully, I've been very encouraged by stories of families with older MCADD kids who are successfully able to participate in sports, so the thought of him playing a sport doesn't make me as uneasy as it used to.

He also loves dancing and will bop along to music.  He loves books and brings them to us one after another, happily pointing at the pictures and nodding along to the parts of the story that he apparently agrees with most.  He gives the most wonderful drooly open-mouth kisses while saying "muuuuaaa!" that absolutely melt my heart.

With all of his activity, I'm very grateful that he is eating well and enjoying a wide variety of food. One of his favorite meals is our family's tradition of Saturday morning oatmeal pancakes. He also loves things like cottage cheese, apples, PB&J, pineapple, macaroni and cheese, butternut squash, meatballs, just about any recipe for chicken, tortillas, hummus and lots of other fruits, veggies and grains.  

We've figured out a good bedtime snack system that's working pretty well.  Since our dinnertime is usually pretty close to bedtime, it was hard for us to get him back into the highchair for a sit-down snack so soon after dinner at a time when he'd much rather be romping around with his big brother.  So, now we're giving him a sippy cup of whole milk and a snack cup about a half hour before his bath that he can carry along with him during the romping. The snack cup contents vary, but it's usually some kind of whole-grain cereal or crackers (cheerios, graham crackers, peanut butter sandwich crackers, belvita breakfast wafers, etc.).  He'll drink and snack pretty happily, but at the point that he starts spitting the crackers out, we know that he's full to the brim and we don't force him to eat any more. However, we will hold onto the sippy cup of milk and let him drink that as we're reading his bedtime stories (the last step of our bedtime routine before lights out). 

We have officially weaned him off of the bottle during the waking hours, but he will sometimes have a small 4 oz bottle of toddler formula when he wakes up hungry at night.  During most night wakings, he will soothe himself back to sleep within a minute or two, but on the nights where our evening routine was a bit off (which happens to every family from time to time), or nights that we know he didn't eat as much of his dinner and/or bedtime snack as he normally does, we'll happily mix him up a quick bottle when he wakes (we keep the can of formula in our room along with a pre-filled bottle of water). If his fussing lasts longer than a minute or two, it's usually cured quickly with a small bottle. Sometimes he'll drink it all and be satisfied and sometimes, he'll only drink a few ounces before pushing it away and snuggling back into sleep.

Sleeping has really improved in the last few weeks, too.  About a month ago, he had slept through the night a total of 5 times, but now he's sleeping through the night much more often - at least 2-3 nights per week.  He's been working on cutting some molars, so that might actually be factoring into the sleep disturbances more so than the poor sleep habits we've established through his first year MCADD feeding schedule.  I have friends with children of similar age (not affected by MCADD) who are experiencing similar night restlessness due to teething, so it makes LB's sleep seem much more "normal."   

All in all, things are going great and we're excited for all the fun we'll have this summer!

TIP - Hearty and Healthy Snacks for Bedtime or Anytime

As I mentioned, we got an excellent list of snacks from our metabolic clinic at LB’s last appointment.  These snacks were recommended by a dietician as a healthy way to keep filling and nutritious food in the system of someone with a metabolic disorder like MCADD.  As always, you should check with your doctors before feeding anything new to your little one…and you should only feed age-appropriate items.

A snack can be thought of as a little meal, rather than a treat.  Healthy, balanced snacks should include a source of protein and a source of carbohydrate. 

Example Proteins (can be fat free or low fat):

• ¼ cup cottage cheese
• 1 oz cheese
• 4 oz low sugar/carbohydrate yogurt
• 4 oz milk
• 4 oz infant formula
• ¼ cup beans
• ¼ cup hummus
• 1 slice lunch meat
• 4 oz pudding (made with milk)
• ½ egg or 1 egg white
• 1 oz tofu
• 1 Tablespoon peanut butter
• ¼ cup nuts (non-sweetened, not honey roasted)

Example Carbohydrates:

• 1/3 – ½ cup unsweetened cereal
• ½ - 1 mini bagel
• ½ banana
• 1/3 cup oatmeal
• 1/3 cup porridge
• 3-5 whole wheat crackers
• 2-3 rye crisps
• ½ whole wheat pita bread
• 1 slice whole grain bread
• 2 graham cracker squares (not sugar or cinnamon)

 
Put it all together and you get some great snack ideas, especially for the much-needed bedtime snack:

• Unsweetened cereal (like Cheerios) and milk
• Unsweetened cereal and yogurt
• Graham crackers and milk
• Whole wheat crackers and cheese
• 3 graham cracker squares with 1 tablespoon peanut butter
• 1-2 slices low fat cheese and/or lunchmeat and 4-5 crackers
• ½ sandwich (1 slice whole wheat bread with 2 tablespoons peanut butter or 1 slice deli meat and 1 slice cheese)
• ½ English muffin with light cream cheese or peanut butter
• Mini bagel with light cream cheese or peanut butter
• Pizza bagel or pizza English muffin (1 tablespoon of tomato or pizza sauce and 1 oz low fat mozzarella cheese on half a bagel or English muffin, warmed or toasted)
• Celery sticks and 2 tablespoons peanut butter
• ¼ cup cottage cheese plus ½ cup pineapple or 2 pear halves or 2 peach halves
• ½ small banana with 1 tablespoon peanut butter
• Granola bar that contains fiber and protein

Happy snacking kiddos!

Metabolic Appointment

We just had our one-year appointment with the metabolic clinic and in many ways, it felt like a victory celebration.  I remember at our very first appointment, they told us that the first year would be the most difficult, but that LB would be more and more like a "normal" kid once he reached that milestone.  He would be able to go longer between meals as his body grew and matured.  He would be able to sleep through the night.  He would be able to eat on a more normal schedule (instead of every few hours around the clock). All of this is true now.  When he is ill, we still might need to wake and feed him, but when he is well, we were given the green light to let him sleep for 10-12 hours at night (provided he eats well during the day and has a hearty bedtime snack).

His metabolic specialists are not recommending any special diet for LB.  They did give us a great list of healthy bedtime snacks that I will post later, but other than that, we were told to feed him a normal, age-appropriate diet.  Apparently, they used to recommend a low fat diet for children with MCADD and refer them to a dietician, but they don't see a need to anymore. They said he could transition from formula to milk and didn't need to move into a toddler formula for any period of time beforehand. 

I have read a lot about children with MCADD being given cornstarch in milk as a way to maintain blood sugar, but when I asked about it, they also said it was unnecessary for LB.  They mentioned that cornstarch is often recommended for something called "brittle MCADD" where children with MCADD also have an on-going issue with low blood sugar.  LB doesn't seem to have any issues with blood sugar, so as long as he's eating normally, there wouldn't be a need to dose him up with cornstarch for a blood sugar boost.  We also, of course, still have the polycose in the cupboard which we can use to introduce additional sugar to his diet during times of illness.

They are doing some bloodwork to check his carnitine levels (which they do at every appointment) and they will let us know the results.  If it is low, we may need to supplement him with oral carnitine, which we already have on hand to use during times of illness.  We should know that within the next week.

Speaking of bloodwork, we finally got around to talking about my acylcarnitine profile results, too. Everyone in the family had a acylcarnitine profile performed shortly after LB's birth to confirm that no one else in the family has MCADD. My husband's bloodwork and our older son's bloodwork came back stone-cold normal. Mine came back with two abnormal results - an elevated C4 and C8. They told us that it wasn't MCADD, but I kept forgetting to ask at our other appointments and I was still curious what it might be (it just seems strange that such an unusual bloodwork panel would come back abnormal for someone who is seemingly healthy, but who has a child with MCADD). They surmised that it may be indicative of my carrier status, but that it wasn't anything to be concerned about. It definitely wasn't MCADD.

We spent quite a bit of time talking about genetics at this appointment, too.  The doctors inquired whether we were planning to have more children and at this point, we're just not sure.  We think we may be done, but there is what we keep referring to as "that nagging 1%" chance that we might try for #3.  They told us that there were a few options for pre-natal testing to diagnose MCADD.  We could opt to do in-vitro fertilization and select only the embryos that are not carriers of MCADD for implantation or we could conceive naturally and take our 1 in 4 chance that our next child would be affected by MCADD (and 2 in 4 chance they would be a carrier or 1 in 4 chance that they would be neither affected nor a carrier).  If we conceived naturally, we would be able to test for MCADD using an amniocentesis or we could wait until after birth to conduct a blood screening.  If we waited until after the baby was born, they would recommend that we feed formula and do the blood test immediately to make sure that the baby would be safe until we knew his/her MCADD status for sure.  We would not have to wait for the traditional newborn screening test results to find out, although the screening would still be conducted.

We also got the results of LB's DNA analysis.  They screened for only the common mutations and found that LB has one common mutation and one uncommon mutation that they were unable to locate within the bounds of the DNA mapping that they performed.  We would need to talk to our insurance company to discuss the cost of a full DNA analysis to find LB's other gene mutation and it could be pretty expensive.  Apparently, insurance companies tend to balk at paying for this level of testing since it doesn't change the course of treatment, so it would likely be a hefty out-of-pocket expense for us.  We agreed that we would not pursue the full DNA analysis at this time, but that maybe in 20 years when our kids might start thinking about kids of their own, they may choose to pursue that more extensive testing to determine 1) whether our oldest son is a carrier and if so, of which mutation and 2) what the uncommon mutation is for LB.  At that point, DNA mapping will probably be a whole lot less expensive, too.

In all, it was a great appointment.  It's always great to hear that your child is doing well and developing completely on schedule.  Considering how worried we were the first time we set foot in the metabolic clinic one year ago, this appointment was a breeze.  We'll only need to be seen every six months going forward (another benefit of LB getting bigger and out of the critical and worrisome first year).