Molly

3-MCC

My husband and I welcomed Molly Addison at 3:11am on Mother’s Day 2015. She weighed 6 pounds and 14 ounces. Molly did so well after delivery that we were on our way home two days later.
At Molly’s 5 day old check up with her pediatrician, we were told she was absolutely perfect! Later that afternoon, the pediatrician personally called and asked for us to come back in because Molly’s newborn screening results had come back abnormal for 3-MCC. I immediately asked, “What?! Is it something serious?” All she could say was she would have to research it more and hopefully have answers for us by tomorrow.

We rushed to the doctor’s office and they attempted to take blood and urine samples from both me and Molly. After 3 hours of trying unsuccessfully to draw Molly’s blood from multiple locations, we were sent home with directions to go to the local children’s hospital in the morning. I will never forget looking into Dr. Ford’s eyes and hysterically crying. She immediately responded with a hug and told me she was going to take excellent care of Molly and that we had no reason to worry yet because Molly was doing absolutely amazing and thriving so well. She did not want to tell me anything about 3-MCC until she knew exactly what to expect and what to tell us.

I can’t say this enough, but Dr. Ford and her nurse, Ashley, are two of the greatest people in this world that I have the privilege of knowing. After we returned home from Molly’s blood draw, Dr. Ford called and said, “When we hang up the phone, I want you to go to this website and read the very first line.” I went to the website and the very first line read, “Children diagnosed with 3-MCC at birth never need any special treatment and can live healthy lives with typical growth and development.” I knew at that moment Molly was going to be okay and that we had chosen the best pediatrician for Molly.

Two weeks later, we received a call from the Emory University Genetics Department. They confirmed Molly has 3-MCC. Three days later, my husband and I drove to Atlanta to meet with Dr. Gambello at Emory Genetics. Dr. Gambello said “Yes, Molly has 3-MCC and I do not think she will ever have problems with it, but we like to keep an eye on kids with 3-MCC so you will come in for checkups with me every 6 months, then once a year, then once every 2 years, and so on. She needs no special diet, she has no special needs, just keep an eye out for anything abnormal.” I remember looking at my husband and we both had tears in our eyes while smiling. Our baby girl was going to be okay.

Molly continued to thrive and was a happy, bubbly baby. We followed up with Emory Genetics at 6 months and again at 12 months. At each appointment we were told Molly was doing amazing. She was hitting all her milestones and eating like a champ. A year flew by and before we knew it Molly was eighteen months old!

On December 12, 2016, I woke Molly up as usual and gave her whole milk in her cup. I sat with her on the couch while she was fully waking up. I went into the kitchen to start her breakfast and Molly came into the kitchen not long after. When I turned around to look at her, she vomited all over the kitchen. I remember thinking, “oh goodness, our first stomach bug!” Less than 5 minutes later Molly became OVERLY silly. It almost reminded me of a drunk person who can’t stop laughing and being goofy. Molly was 19 months at this point, and all of a sudden, she had trouble walking. After she would stumble, she would become very irritated and cry non-stop. It was a cycle that kept repeating. I didn’t initially think it was her 3-MCC. I immediately called Molly’s pediatrician and she wanted to see Molly. While I waited for Molly’s appointment, something told me to look at the paperwork we received on 3-MCC.

As I read the symptoms, tears filled my eyes because she was exhibiting every symptom. I got her to Dr. Ford and she checked Molly out and I showed her the paper I read. She told us to get to the ER and take Molly’s emergency protocol letter with us. She told us she would call her fellows and give them a heads up since most ERs are not familiar with metabolic disorders.

When we got to the ER Molly’s blood sugar was 54. They started her protocol immediately and she was on D10 before I could blink. Within hours, Molly started to perk up. The ER doctor came into the room and told us Molly had metabolic acidosis and that she would be admitted. They called and spoke with Emory Genetics, and they all agreed Molly needed to be on D10 overnight. We were told 3-MCC generally presents problems when there is an illness involved or when the patient is not eating well. I did notice Molly’s appetite decreased a couple of days before, but I was also told, “toddlers have days like that.” I didn’t think anything of it and I certainly wasn’t aware Molly had an illness. Her white blood cell count was elevated, but she presented no physical symptoms other than a high fever, so the doctors at the hospital concluded she likely had some kind of virus. Molly threw up a couple more times after we were admitted and they gave her Zofran and she finally stopped. By 3pm the next day, Molly was back to her wild toddler self! She was back to eating and bouncing around everywhere! They discharged us that evening and we went back to our normal life. It was amazing to me how quickly that D10 helped Molly bounce back so quickly! Both Molly’s pediatrician and geneticist were pleased with her quick recovery and thankful it was nothing worse. After all, she does have 3-MCC so this was sort of an expected occurrence.

We continued on with life until February 11. Molly presented almost exactly the same as she did in December with vomiting, lethargy, muscle weakness, and irritability. I took her to the pediatrician and we both agreed we needed to take Molly to the ER again. Sure enough, Molly’s blood sugar had dropped, and her white blood cell count was elevated again. She had metabolic acidosis. We were admitted overnight again. Thankfully she was back to her usual self by the following afternoon and we were discharged late in the evening after she started to eat.

After this hospital visit I decided to start tracking her illnesses. Something didn’t seem right to me, and as a nurse I found it odd that she was having these fevers with no physical symptoms other than high white blood cell counts.
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When I took Molly for her hospital follow up with her pediatrician, Dr. Ford, Ashley, and I discussed Molly’s 3-MCC and went over exactly what we knew about it. At that point, we all agreed that Molly’s blood sugar needed to be measured when she is sick. We thought that was our sure way of knowing if Molly was going to become sick or not. Like I stated before, for a pediatrician who was not familiar with this metabolic disorder, she was always helping me figure out what we could do to prevent a hospital stay. At this time, we were just trying to put together a plan that would keep Molly out of the hospital.

That next month, March 14, Molly became sick again. She had a high fever, just like previous times. She started vomiting, but I took her blood sugar, and it was 94. Perfect blood sugar, actually. Molly stayed sick for 5 days after that. Nothing but a high fever. She did continue to throw up, but I thought since her blood sugar was stable, she was fine. We never went into the ER, but we probably should have. Lesson learned. I want to also note that around this time, I noticed Molly becoming extremely picky about her food. She used to eat everything under the sun, but from about 18 months on, she really became unwilling to eat the things she used to.

A few weeks later, on April 9th, I documented that Molly had a high fever. No other symptoms, just a high fever.

The next month at Molly’s 2 year well check, I brought up to Molly’s pediatrician the possibility of Molly having periodic fever syndrome. These fevers were happening every 4-6 weeks. Dr. Ford never questioned my thoughts, and we both agreed that we would start treating her with a steroid at the first sign of fevers. Periodic fever syndrome has absolutely nothing to do with her 3-MCC, I think it just complicated the 3-MCC part because it brought on the high fever and appetite decrease.

By late May, Molly was in the hospital with vomiting and a high fever. We took her as soon as she woke up and started vomiting in hopes of getting the D10 going and getting a late-night discharge. She was not acidotic and we all felt she would eat better at home. We were discharged around 10pm that day. Three days later, Molly was admitted again for acidosis. We stayed a couple of days, and we all agreed, we should have never gone home on the first day. We started realizing at this point that Molly becomes acidotic quickly after she begins vomiting and her blood sugar has trouble stabilizing while sick without the help of D10. The geneticist explained to us that this is a typical and expected part of 3-MCC.

Molly continued to be admitted to the hospital about every 6 weeks until November 2017. Each time was either from an ear infection or her periodic fever syndrome. She stopped eating and we could not get her to eat or drink any carbs. Each admittance she had metabolic acidosis and our geneticist told us each of her hospital stays were related to her 3-MCC. Molly’s biggest complication is she isn’t a fan of food. She will eat some sweets, but she only likes them in small amounts. I truly feel that if Molly had not been such a picky eater, we could have avoided a lot of her hospital visits.

Molly got tubes her ears in November 2017, and as I write this, we are officially 4 months hospital free. This is the longest we have stayed out of the hospital since she was 19 months old. 2017 was a long, hard year for my girl. I want every parent to know that even though 3-MCC is a mild disorder in comparison to other metabolic disorders, it still is very serious and it’s so important to be the advocate for your child. We had a long road with Molly, but I feel so much better as she gets older because she’s close to understanding how important her eating and drinking are and how important it is to stay well.

Find a pediatrician who truly advocates for your child. You need someone who takes you seriously, even if your child just has a common cold. Dr. Ford, Molly’s pediatrician has always taken me seriously, especially after Molly’s first metabolic crisis. She didn’t look at me like I was crazy when I brought up periodic fever syndrome. I remember her taking an hour with me one time after Molly’s 4th or 5th admittance where we tried to come up with every plan possible to keep Molly out of the hospital. I know I say it a lot, but there will never be enough good things to say about Molly’s pediatrician. She has truly blessed our lives with her care for Molly. I also credit Dr. Pavaluri, Molly’s hospitalist, for her amazing efforts to learning about 3-MCC and how it directly effects Molly. She read up on 3-MCC from asymptomatic kids to kids who had experiences like Molly. She also was the one who noticed Molly’s CRP levels and high liver enzymes. Because of her hard work and dedication to Molly, we were able to take a lot of information and questions to Molly’s geneticist and dietitian to get answers. We now have a new emergency protocol that was made specifically for Molly since we know how her body works when she doesn’t eat and is fighting an illness. Molly’s care team is just as important to us as Molly is to them, and our family is so appreciative of Molly’s medical care team.

Molly is completely on track development wise. She walks, talks, and plays just like a little girl her age should. We’re so relieved all of Molly’s hospitalizations have not had an impact on her development. I truly believe it is because of the quick and swift action of both her pediatrician getting us admitted and her hospitalist wasting no time getting Molly started on her D10.

I hope our story, while intimidating and a little scary, gives any other 3-MCC parent a sense of relief and a sense of what to expect and when to know to get immediate care for your child.
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Brittany
Bonaire, GA
bhlister@comcast.net

From the Spring 2018 OAA Newsletter
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