The incredible edible egg

Everly loves hard boiled eggs. 

And they are a perfect snack for her, they have protein and are pretty lean, especially when she tosses the yolk after one bite. Alot of her snacks tend to be low fat but high sugar...which is a good and bad thing. 

So I am happy to boil up a batch of eggs.

And whip out my limited artistic skills, just for a little extra fun.

And for the record, the vampire started out as an owl that went very very wrong.

MCADD testing day

One sunny Saturday we took all the kids in to get tested for MCADD.

I was feeling stressed and overwhelmed with the prospect of having every single one of my children poked with needles.  And with the idea that we had 5 more possible disorders to worry about in our future.

But there is something to be said for not really grasping the gravity of what we were doing.

And there's something to be said for the baby that slept through the entire event.

There is something to be said for the fantastic Dad that took each one of them in and helped them to be brave and coached them to cheer on their siblings. I seriously love him.

And there is something to be said for sharing the experience with your best friends.

And there can't be enough said about driving behind coordinated arm flapping....all the way home.

The waiting room

It's been 3 months since Everly's diagnosis.  Last time we were here, I was crying and feeling very unsure about the future. 

Now we are feeling like we can manage this disorder and we will learn and do anything we need to to help Ever live a happy life and feel as normal as possible. 

We are feeling grateful.

And we are done crying.

MCADD

On Tuesday, 8 days after Everly showed up, I made myself put her tiny little body in that carseat and I took her to her 1 week check up with the pediatrician. Admittedly, I was a little freaked out because of Anna's awful experience with getting sick at such a young age. And doctor's offices are a germfest.

So I kept her in her carseat, covered by a think blanket and I nervously scanned the waiting room, visually identifying any possible threats...flu, coughing children, facemasks, the plague.  I was fully prepared to bolt.

I tell you, motherhood does thing to you.

It makes you a freak.

We wait FOREVER, as we always do, and we finally see the doctor. She looks her over. Messes with her hips. Makes her cry. You know how it is. Then she declares her perfectly perfect. And we are on our way.

We return home and back to the safety and care of Grandma Kathleen. The real mom.

All is right with the world.

The next day the pediatrician calls early in the morning. She says a whole bunch of things and I fail to process 95% of it. The 5% I did get was that there was something wrong. And I needed to take Everly to see a geneticist.

I said, "Okay, thank you for calling."

And then I hung up and I stared at the countertop and I realized that I had no idea what she had just told me. I had to call her back and ask her to tell me one more time. I knew I would need to tell Mark and I wanted to be able to give him the details and I also knew full well that I had every intention of googling the heck out of whatever it was.

It was MCADD.

And I googled it.

And I bawled. I called Mark and he told me that it would be okay and I'd bet a million dollars he hung up and googled it.

Then I bawled again and I told my mom.

And then I sat on my bed and nursed Everly and poured over everything I could find about MCADD.

In a nutshell, having MCADD means that she cannot breakdown medium-chain fats. So, she can't use her own body fat for energy. And she would have a hard time processing food that is high in fat. Most importantly, she always needs to have food in her stomach or she could have a metabolic crisis (fatigue,  fever, vomiting, coma, death). If she gets sick and refuses or is unable to eat, she could have a metabolic crisis as well, since the body burns energy faster when fighting off germs. To avoid this, when a child with MCADD gets sick and can't eat, they need to be hospitalized and put on a glucuse IV until they are able to eat again.

We went to the geneticist the next morning, under the impression that we were simply retesting to rule out or confirm the original diagnosis from her newborn screening. Instead, we were plunged right into appointments with a genetic counselor, and geneticist, and  a dietician. My head was spinning and I felt confused. Finally Mark said, "I'm sorry. I thought we were here to retest and find out if she even has this."  The genetic counselor, Kaitlin, looked at us with compassion and let us know that Everly's numbers were such that put her in the "high risk" category and it was very likely that she had the disorder. I don't remember too much after that.  I had been hanging on to the possibility that it was a false positive.

We made it though the appointment. And then we made it through the awful process of getting a reasonable blood sample from our tiny 9 day old baby girl.

I'm not used to crying in front of people.

And then we waited. For 7 long days.

We prayed like crazy and our wonderful families put her name on Temple prayer rolls and fasted for her. My sweet Ethan fasted for her on his own on a school day. I read a ridiculous amount of personal stories of children that have MCADD and I began to hope again that it might turn out to be a false positive. Maybe her numbers were due to my liver problems during the pregnancy? Maybe the machine was broken? Maybe her sample was switched? Anything.

Finally Friday came and we got the results. She has MCADD. I admit I fell apart on the phone. That poor genetic counselor. She must deal with a lot of crying mothers.

Once I got off the phone, and I had a good cry. (My mom was here. I can't tell you how much that helped.) And the something weird happened.

I felt at peace.  All of those prayers caught up to me and I recognized the blessings that we have received in all of this. Mainly that MCADD can be an awful, devastating, tragic thing....when you don't know about it. But we do! She was born in a state that does expanded newborn screening. Because of that, we have all the knowledge and tools to keep her safe and healthy and alive!

So now we are feeding her every 3 hours. And let's be honest...this is nothing new for us. My babies are voracious eaters and I nurse round the clock for....forever. So this isn't really a practical change for us. It's just a change in the way I think about it. I set my alarm for 3 hours after she eats at night just in case she sleeps longer than that....which would be a first. Instead of being resentful of waking up at all hours, I feel relieved that I am able to give her what she needs to have toher here with me and in my arms.

Things will get easier as she gets older. But, hey, that's really true of all kids.

Since then, we have had all the other kids tested. MCADD is a genetic disorder, so there is a 25% chance that they have two functioning genes, a 50% chance that they are carriers (which Mark and I obviously are) and a 25% chance that they have the disorder.

It was weird going into the hospital and having my entire family get their blood samples taken one at a time. They were amazing. They made me ridiculous proud. The older ones were brave for the little ones and the little ones didn't shed a tear. Anna came out and cheered, "I DID IT!" and everybody clapped! You can bet there was ice cream for everyone on the way home.

The tests all came back negative. Although I got the feeling that Mathew was a little disappointed that he missed out on a chance to have a medical excuse to never fast again.

When all is said and done, I am grateful for Everly. She is our last little pup. She is soft and warm and squeazy. I am so grateful that we know about her disorder and that she can live a normal life. I am so glad that I know how to keep her healthy. Life is good and I know God hears our prayers.