Evan’s Greatest Gift

By Michelle Forman, Senior Specialist, Media, APHL

Teddi and I were able to catch up one Monday afternoon while Evan, her almost-two year old napped.  I asked how they were, “Well, Evan has a little bug that’s been going around… luckily he seems to be normal-sick. No hospitalizations this time!” She laughed. Evan is immunosuppressed following a liver transplant so any little bug could be a very big deal.

When Teddi was pregnant, she and her husband went through genetic testing. “If there was something we just wanted to know so we could learn everything we needed to learn before the baby came,” she explained. Everything was normal.

Evan was born on March 19, 2011 – a Saturday.  From the beginning, Teddi had trouble nursing Evan. “He fell asleep every time. Every single time.” Lactation consultants came to try to help and told her to keep trying to nurse. Eventually Evan lost so much weight they had to begin supplementing with formula. Once he began gaining weight again, they sent them home to begin their lives as a family. But something still didn’t seem right – Evan was sleeping more than a typical newborn. “When he was awake, he was very out of it.”

The following Friday Teddi got a call from the New Mexico Department of Health asking for her pediatrician’s name because something was abnormal with Evan’s newborn screening results. About twenty minutes later the pediatrician called to explain that Evan’s results were positive for Maple Syrup Urine Disease (MSUD), a metabolic condition that keeps a person from being able to process the amino acids leucine, isoleucine and valine. Teddi already had a sense that something wasn’t right because Evan was so sleepy all the time. Could this be it?

The pediatrician wanted to see Evan the next day; during the appointment she didn’t notice the primary tell-tale-sign of MSUD: a maple syrup-like odor in the baby’s urine. Evan needed additional blood work, but because it was the weekend they needed to wait until Monday. Teddi was told what symptoms to watch for, and they were sent home.

An hour later the pediatrician called Teddi and told her to take Evan to see a geneticist in the emergency room that day. “The geneticist smelled his diaper, he smelled his ear, he smelled everything and there was no maple syrup odor. Nothing.” But the newborn screen was positive, and Evan was experiencing some of the symptoms – lethargy and trouble feeding – so the geneticist decided to admit him and began feeding him the therapeutic MSUD formula just in case.

The following day Teddi and her husband learned that Evan did in fact have MSUD. He was nine days old. “I was at the hospital with a friend, actually someone I barely knew but who is now a close friend. We’re a military family so the community is close. I stood by Evan’s crib as the doctor told me he was definitely positive for MSUD. My friend walked up and took my hand. She didn’t say anything and she didn’t have to. I knew everything would be ok. We finally had an answer and, although things may be hard, we knew what to do.” The doctor explained that Evan would need his blood levels tested weekly, and a nutritionist explained about the special MSUD formula.

“The doctor told me that a normal person’s leucine levels are generally around 230. Evan’s level was 3,600 when he was diagnosed. I was poisoning my baby by feeding him.”

Evan was essentially in a coma, although Teddi told me that none of the medical staff ever used that term. He would not wake up. He was being fed through tubes. The geneticist said, “I promise you your son will wake up, but I can’t promise you anything else.” Teddi explained to me that MSUD can cause severe brain damage very quickly if untreated. At that point, neither Teddi nor the doctors knew if Evan had sustained any brain damage.  Shortly after that conversation, a scan of Evan’s brain revealed no damage. His MSUD had been caught and treated in time.

Still in the hospital, Evan was 11 days old when he stopped breathing. His tiny body was so full of the proteins it was incapable of processing that it began to shut down. “Watching four or five nurses run in as alarms were going off – that was crazy. That was the first time I cried.” They were able to give Evan rescue breaths to save his life, and moved him immediately to the ICU where he stopped breathing a second time. Rescue breaths saved him once more, and Evan never stopped breathing again.

Slowly, Evan began to improve; he started to wake up a little bit. Eventually Teddi and her husband were able to begin bottle feeding, but Evan didn’t know how to eat from a bottle so they had to teach him. The nutritionist visited regularly and showed them how to weigh his formula – everything had to be precise. He needed a perfect balance of Enfamil (regular formula with the amino acids necessary for children to grow) and the MSUD formula (formula without amino acids that provided both nutrition and helped Evan’s body process the amino acids from the Enfamil).

Finally Evan was able to go home. “It was scary. Here we were at home – we didn’t know how to care for this child with such special needs.” Every Monday Evan had his weight checked and his blood drawn. Because of the testing Evan required, his blood work had to be sent to Utah and took 3-7 days for results to be returned. The delay meant that they never knew his current levels; they were constantly watching for signs that his levels might be too high.

In addition, feeding became very difficult. With a healthy baby, it is ok if they don’t complete a feeding or if their feeding is a bit late. Evan didn’t have that luxury. He had to eat a certain amount of both formulas every day, something he wasn’t very happy about. By three months Evan decided he didn’t like the MSUD formula. “We were force feeding him. It was awful. Every feeding was a battle.” During his first year, Evan was hospitalized three times – two of those times were simply because he refused to eat so his doctors intervened with feeding tubes.

Teddi and her husband were struggling. Life was hard. Because they were military, they moved a lot and lived far from their families. And Evan was the only baby born in New Mexico with MSUD in 2011, so there was no one else nearby who truly understood what they were going through. Teddi found support in online MSUD communities. “Thank goodness for the internet!”

They were also constantly reading and researching about MSUD – that’s when she learned about how a liver transplant could help Evan live a more normal life. While the medical community does not refer to a transplant as a cure for MSUD, it is absolutely a long-term life changing treatment. A new liver would create the enzymes needed to break down amino acids.

After discussing the possibility with their doctor, they thought it made sense to wait until Evan was a bit older. But as feedings became increasingly difficult and blood work was taking longer to come back, the transplant began to seem like a more immediate option for them. Teddi understood the risks associated with the transplant. She knew that there was a lifetime risk of rejection. “As a parent it was more appealing to know that if my son got sick from transplant complications, there was a protocol in place to make him better. There is a system; there are medications. That doesn’t exist for MSUD because it is always changing within his body,” explained Teddi.

Once the wheels were in motion to move Evan closer to a transplant, it was only a three month wait for a liver. Evan received his new liver the day before his first birthday. “It was the greatest birthday gift he could have gotten. He’ll never get a better gift than that.”

Teddi recalls watching the doctor put Pediasure, a protein packed nutritional shake to help infants and young children gain weight, into Evan’s feeding tube just after the transplant. It was the antithesis of the MSUD formula. “I was so scared! But he did fine. His levels were perfect.”

Evan had some relatively minor complications following his transplant: the worst were a virus that warranted heavy medication and a hematoma that required opening his belly again. His medication suppresses his immune system which is why Teddi gets a bit nervous every time he gets sick, and why she was so relieved this time that he was “normal sick.” Almost a year after Evan’s transplant he is a typical toddler.

Evan and his family live in New Mexico where his dad, a flight engineer for search and rescue helicopters in the Air Force, is stationed. He has served two tours in Iraq. Teddi is a school teacher by trade. They know that having a second child could mean another baby with MSUD so they plan to do extensive genetic testing before the next pregnancy.

Teddi and I spent the last half-hour of our call talking about our kids. They are only three-months apart and remarkably similar – rambunctious and curious with strong opinions of their own, and both are picky eaters. Evan loves chicken nuggets and Nutri-grain bars, two things he never would’ve been able to eat before the transplant. We joked about how our two kids seem to be the only two kids who don’t like fruit! Newborn screening has allowed our children to be so similar at this point in their lives. Without it, Evan could be severely brain damaged or dead. Instead he is developing on schedule just like my daughter.

I asked Teddi if she thinks about newborn screening often. Without pause she firmly replied, “Newborn screening saved my son’s life.” If that simple test had not been done, she said Evan would have ended up in the hospital and no one would have known what was wrong.  “I don’t know if he would be here.” Luckily she doesn’t have to worry about that.