MINSTER — With a twinkle in his eye and a quick smile, Eli Monnier, 2, of Minster, is capturing hearts throughout his community.
Eli, the son of Lindsay and Alex Monnier, is a miracle baby for his family. And they’re hoping a miracle will happen when he goes to Minnesota for a bone marrow transplant this week.
His birth was the beginning of a journey that his family never expected.
“Eli was born with recessive dystrophic epidermolysis bullosa (EB),” said his mom, Lindsay. “Recessive means he has two genetic mutations. Dystrophic means his is a scarring type of condition.”
Epidermolysis, she said, means the epi affects the top layer of his skin and the dermolysis affects his bottom layer of skin. Bullosa causes his skin to blister.
“He’s missing his collagen VII protein, which is one of the protein collagens needed to keep the connective tissues together,” said Lindsay. “Collagen VII binds the skin and connective tissues together. There are several forms of EB and his is the most severe form of it. He was born with two different mutations in the collagen VII gene.”
Eli received one of the gene defects from his dad and the other from his mom’s side of the family.
“My sister was my egg donor, and she’s a carrier. We also found out later that I’m also a carrier,” said Lindsay.
The journey to Eli’s birth
The path to having a child wasn’t an easy one for the Monniers. In 2008, Lindsay gave birth to a stillborn daughter. The cord was wrapped around the infant’s neck twice. She delivered her at 24 weeks into her pregnancy.
“One and half years later, I had a miscarriage,” said Lindsay. “A few years later, the doctors found out I had a rare disorder called homocystinuria, which is a recessive genetic disorder. I was 25 when I was diagnosed with it, but I was born with the disorder.”
Homocystinuria keeps the body from processing amino acid methhionine. Without the amino acid, proteins are not metabolized correctly in a person’s body.
“There’s a test for it at birth, but they missed the diagnosis when I was born,” said Lindsay.
In July 2012, Lindsay and Alex were married. They decided to try for “another baby after we got married.”
Because of the domocystinuria, Lindsay was on blood thinners. During her pregnancy, the baby’s heartbeat was heard at seven and nine weeks. At her 11-week check up, the doctor made the decision to call Lindsay’s a high risk pregnancy. But when they checked for a heartbeat, none was heard.
“I had a DNC, and they tested the baby and it had Down syndrome,” she said. “This was because of another genetic problem with me. The baby had two chromosomes fused together and would have been born severely handicapped.”
The couple decided to see a fertility specialist at the Kettering Reproductive Center.
“They recommended in vitro fertilization (IVF),” said Lindsay. “During the preimplantation, they would do a genetic screening on the embryo. The sperm and the egg would be fertilized in the lab and then tested. It would cost us $25,000, and we couldn’t afford it.”
At the time, the couple were living in Columbus. They had moved in with Alex’s parents until they purchased their home in Minster in July 2013.
“We decided to try to get pregnant one more time,” said Lindsay. The pregnancy resulted in another miscarriage for the couple.
“This baby also had Down syndrome,” she said. “I think the first baby I had also had it but because the cord was wrapped around her neck, they didn’t check for anything else.”
A grant from the Baby Quest Foundation in California helped the couple cover one-third of the costs of an IVF cycle, as they decided to try in vitro fertilization. After beginning the IVF cycle, Lindsay’s eggs were harvested.
“It was so painful, and they only got half my eggs that were available,” said Lindsay. “They got 12 gets and there were only four of them that they could biopsy (for genetic disorders). Three came back genetically abnormal. The fourth one had unconfirmed results.
“We took another leap of faith and had it transferred back into me,” she said. “But there was no pregnancy from the IVF.”
After years of heartbreak, a ray of hope was delivered by Lindsay’s younger sister.
“My sister called me up and said, ‘I’m tired of seeing you hurting. I want to help you guys.”
She volunteered to be an egg donor for Lindsay and Alex.
“The fertility specialist at Bethesda Fertility in Cincinnati has a 70 percent success rate for pregnancies with a donor egg,” said Lindsay. “We were able to get five viable embryos, and they transferred two to me in November 2014.”
Eli’s on his way
The couple received the news they were praying for — Lindsay was pregnant.
“It was the best nine months of my entire life,” said Lindsay. “I was happy, but I was also anxious.”
At her 20-week ultrasound, they discovered Eli had velamentous cord insertion.
“The techs don’t hide it very well if something is wrong,” said Lindsay. “His umbilical cord was attached to the side of the placenta instead of to the center of it. This happens in 1 percent of all pregnancies. It can result in a stillbirth, and it prevents nutrients from getting to the baby. But neither of those things happened with Eli.”
During her pregnancy, Lindsay was on blood thinners and was undergoing immune treatment to maintain the pregnancy.
“I was induced a week early,” said Lindsay. “I went into the hospital on Aug. 7, 2015, when I was 39 weeks pregnant. We were expecting a healthy baby because we had done everything we could to have a healthy baby.”
After being induced, and receiving an epidural, the labor didn’t progress, and the baby’s heart rate dropped. Doctors decided to do a Cesarean section.
Eli was born Aug. 8, 2015, at Kettering Medical Center.
“After they pulled him out, they took him to an incubator, and they wouldn’t let me see him right away,” said Lindsay. “My husband, who could see more than I could, saw that there was no skin on his feet. They called him over to the incubator and showed him everything.
“He told me they were taking Eli to the NICU because there was something wrong with his skin,” she said. “I was so happy because he was here alive and screaming. After all these tries, we had a baby.”
Life with Eli
Eli was two hours old when Lindsay made her first visit to the NICU.
“They wanted me to do some skin-to-skin bonding with Eli,” said Lindsay. “The doctor thought he had EB but he wasn’t 100 percent sure.”
The doctors contacted Cincinnati Children’s Hospital, which has physicians who treat EB. The Cincinnati doctors asked for blood work so genetic testing could be done. They also requested photographs of Eli so they could see what his skin looked like.
“They confirmed that, yes, it was probably (EB),” said Lindsay. “They gave the Kettering doctors a protocol to follow. Eli had no skin on his feet and when they suctioned him after his birth, that took the skin out of his mouth. This affected his gastro tract also. He couldn’t eat via a bottle. They were putting a total protein nutrient in an IV in his umbilical cord.”
Lindsay said the first three days of Eli’s life were scary for her and Alex.
“My husband, for the first three days, didn’t go home. He was afraid to touch Eli. Even the blanket covering Eli caused blisters to be produced.”
Lindsay said the couple didn’t announce Eli’s birth until he was three days old.
“We had to soak in the diagnosis first,” said Lindsay. “Alex spent hours looking up the condition on the Internet. After he left for a while, I got on the iPad and saw the websites he had pulled up. One was a blog of another parent who lost their child when it was three months old.
“That’s when I lost it,” said Lindsay. “I asked myself why God was punishing us. It hit me emotionally on day three. That same day an OB nurse at Kettering and her son, who worked in transport, came to see me. They both have EB, but it’s very mild. They came and talked to us and showed us how they live a semi-normal life.”
Next stop: Cincinnati Children’s Hospital
Lindsay and Eli stayed at Kettering Medical Center for four days.
“On the fourth night, the nurse got frustrated because he kept kicking the bandages off,” said Lindsay. “They changed everything in a sterile environment and we got to watch. She didn’t know what she was doing. The next morning, the NICU doctor transferred Eli to Cincinnati. (Kettering doctors) realized they weren’t equipped to deal with him. He was in Cincinnati from Aug. 13 to Aug. 31.
“When we got there, they were familiar with his condition,” she said. “It felt like you were being taken care of.”
Eli’s team of doctors was led by Dr. Luckey, who is a dermotologist.
“The team came up and saw us,” said Lindsay. “Her outlook on things was one I loved. She was more positive and it was not as a gloomy future for Eli.”
The doctors told them they didn’t now how severe Eli’s EB was at that point in his hospital stay. He had blisters all over his body and some places lacked skin entirely.
“At Cincinnati, we learned how to do the bandages ourselves,” said Lindsay. “He did get one severe infection because the nurses left his toes uncovered. His toes were raw, and he pooped out the side of his diaper. He pooped and kicked, and the poop got into his toe and it got infected. That extended our NICU stay by 10 days.”
Eli spent his time in the hospital with no clothes on, wrapped in bandages.
“He used a Huberman bottle to drink from,” said Linday. “Most EB kids use it if they don’t have a G-tube. The nipple is longer and softer. It was Vaseline-coated to minimize friction in his mouth.”
The friction, she said, causes blisters to form. When they burst and heal, there’s lots of scarring in the area.
“His tongue and gums are fusing to his mouth,” said Lindsay. “The movement of his mouth is restricted because of the scarring. As he gets older, his dental cleanings will have to be done under sedation. The dentist will also remove some of his teeth because his mouth is small because it’s becoming restricted by the scarring.”
Eli comes home
“It’s been a learning process for us,” said Lindsay. “There’s been lots of trial and error. If his clothes touch his skin, or the bandages aren’t in the right place, he can blister. The seams of his clothing tear up his skin. He’s got a wound at the bottom of his back that comes and goes. He’s had it since birth. He had on a nightgown that caused the large blister on his back.”
They also had to learn how to pick him up.
“We had to use a scoop method when picking him up so we didn’t tear his skin,” she said.
By the time Eli came home, Lindsay had used up half of her six-week maternity leave.
“I had three weeks with him at home to find a babysitter. I was not comfortable with sending him to a sitter,” she said.
Her maternity leave was extended by two weeks by her employer, Kettering Medical Center.
“We got Eli approved for home care through a waiver that is based on necessity. He qualified for Medicaid, which pays for the home health care,” she said.
The Monniers spend $20,000 to $30,000 a month on bandages. They spend $17 for a jar of cream, and they use one jar a week.
“We are trying to keep him as wound-free and infection-free as possible, which is impossible to do,” said Lindsay. “My husband and I bandage him very differently. He’s fast and furious and I’m low and very particular.”
Changing Eli’s bandages can take anywhere from one to three hours. And some days, the bandages have to be changed multiple times.
“Eli was a terrible sleeper. He would wake up screaming every 1 to 2 hours until he was 2,” said Lindsay. “Then we found some night medication to help him sleep.”
Lindsay said when Eli was a baby, he wasn’t as fully covered in bandages as he is now that he’s a toddler.
“If he gets a blister, we lance it,” she said. “He had a feeding schedule and diaper changes. He began to have problems with his bowel movements when he was five months old when different foods were being introduced to him. He was hording it and refused to poop. He’d hold his butt cheeks together. Then he started tearing when he did have bowel movements.
“We all had anxiety about his bowel movements. We give him Mirolax to make it soft, but not too soft,” she said. “His legs have been fully bandaged since he was four months old. And it’s not just once a day. It’s multiple times a day and hours out of our day.”
When he started crawling and scooting around, they wrapped his forehead to protect it.
“Two months ago, he sheared off half of his forehead,” said Lindsay. “It took a month to heal and it’s left scarring.”
A happy little boy
Despite all his medical issues, Eli is a happy boy.
“He’s started saying hi to everybody who walks by us when we’re in a store,” said Lindsay. “He makes them look at him. In the stores, we sometimes get shocked looks from people. Kids will blurt out what they’re thinking. Adults don’t say anything. I hope and pray the kids see beyond Eli’s sores and scars. When he goes on play dates, he doesn’t steal toys. He just wants to play with other kids.”
Eli, she said, is very smart.
“People think he’s older than he is because he’s with adults all day long,” she said. “We’re teaching him to enunciate his words and speak clearly. He has a small mouth opening and can’t use his jaws like we can.”
EB, said Lindsay, can cause many different things to happen to Eli’s body.
“He’s had his cornea split apart,” she said. “His scream when that happened could make someone jump out of a grave.”
He’s had a cornea tear three times over a four-month period. When it happens, he is unable to open his eye for six hours to 17 hours. It then takes about a week for the abrasion on his eye to heal. He has to see an eye specialist in Cincinnati every day to make sure it’s healing properly.
“At times, he just wants to be cuddled,” said Lindsay. “He wants the lights dim and me to be there. This is the chronic part of his life until there’s a cure for EB.”
Last June, she said, he had a blister which caused his esophagus to erupt.
“He was vomiting blood for three weeks straight,” she said. “I heard him choke and there was blood on the hands of his nurse. We were in the ER in Cincinnati and his esophagus lining tore out and it was hanging out of his mouth. I was screaming at the doctor to give me a pair of scissors so I could cut it off. I snatched the scissors from the doctor’s hand and cut it. That stopped his vomiting for a few hours. It took three weeks for his esophagus to heal.”
Over time, she said, with his esophagus, because of the cycle of blistering and healing, will begin to close up and Eli won’t be able to swallow.
“Then he’ll have dilations done to his esophagus,” said Lindsay. “The doctor will go in with a balloon to stretch it out. He might have to have it done two to three times a year so he can swallow fluids.”
He now has a feeding tube because he had stopped eating and lost weight. With the tube, he has regained the weight he lost and added a few pounds.
The family has also faced the challenge of making sure Eli has the pain medication that he needs. He usually takes Tylenol for pain but there are times when a stronger medicine is needed, especially when a bandage has attached itself to a wound that’s healing. When the bandage is removed, the wound is reopened, causing more pain.
“The doctor thought I had lost my mind,” she said. “He needed something on an as-needed basis. The doctor finally gave it to us and that got us through a rough period. I didn’t have to give it to him everyday during a bandage change.”
After using the medicine for a short period of time, she said, they stopped using it as it was causing other problems for Eli.
Experiences a toddler faces daily are something that most parents don’t give a second thought to. For the Monniers, everything Eli does is something they have to watch to make sure he doesn’t hurt himself.
“He’s decided he’s ready to be potty trained,” said Lindsay. “The padding on the potty seat caused bruising on him. Simple things other kids can do cause my son damage.
“He can roll over in the bed and suddenly at midnight we’re changing sheets and bandages because he’s started bleeding,” she said. “I’m thankful he has such a good personality. He sometimes gets whiny and gets mad, just like any other kid.”
Life’s new challenge
As the Monniers looked at Eli’s health, they began researching things that — while they won’t cure the disease — will help slow it down and improve the healing process when he gets blisters or open wounds.
To spend more time with Eli, Lindsay changed jobs a year ago and took a part-time position at Upper Valley Medical Center. She continued as a casual worker at Kettering. In the past week, she has quit both jobs as the family prepares to travel to Minnesota where Eli will undergo a bone marrow transplant from his dad, Alex. The transplant will be done at the Masonic Children’s Hospital in Minneapolis.
“In July 2017, we went to Minnesota to discuss a bone marrow transplant,” said Lindsey. “I went there with the intention that there would be no transplant. We just wanted a second opinion.” They met with Dr. Jakub Tolar and they left meeting with a positive feeling.
A bone marrow transplant is the only treatment for EB. It will treat both internal and external symptoms of the disease. Other treatments treat only the external symptoms.
The goal of the transplant is to put the Collagen VII gene into Eli’s bone marrow.
“My husband will be the donor,” said Lindsay. “His bone marrow has the Collagen VII in it. Once it’s in Eli, it will send the collagen to the areas of Eli’s body that need it to assist with the healing process.”
Eli has never had a chronic wound last more than three weeks. Some people with EB have had a chronic wound for up to eight years.
“He’s always healed within three weeks,” said Lindsay. “Any area with a wound will rewound a few days after he heals. With Collagen VII, it will help make his skin stronger and the wound can heal better.
“He’s never going to outgrow (EB),” she added. But the transplant could lessen its effects. Scarring can cause complications, including the fusing together of fingers and toes. Because the marrow transplant may reduce scarring, Eli may suffer less fusing.
The transplant timeline
Eli is currently undergoing treatment in Minnesota. The family recently learned that Eli has no antibodies in his system that might reject his dad’s bone marrow.
Eli will undergo a CT scan, a bone desity scan, an EKG, an echocardiogram and labs. Alex will have labs, a CT scan and an EKG.
“We’ll meet with a specalist and talk about the risks and benefits of the transplant,” said Lindsay. “Then we’ll sign our life over to them.”
If everything goes as planned, Eli will start a chemotherapy regimen on April 3 for nine days. He’ll also undergo a full body radiation treatment.
“This will kill his own bone marrow,” said Lindsay. “During the process, his skin will get worse. He won’t have the ability to fight anything.”
The bone marrow transplant is tentatively scheduled for April 12.
“They’ll take my husband to the operating room, harvest his bone marrow, treat it and then insert it into Eli,” said Lindsay. “It will be inserted into his heart. Then Eli’s body will let the bone marrow cells do its work. His white blood cell counts should get back up to a safe level.
“Then we have to see how the blood donor cells are grafting into him,” she said. “If it works, we will see a difference in his wounds’ healing. They will be healing quicker. Hopefully we won’t have to cover every inch of his body with gauze.”
Once he’s discharged from the hospital, Eli and Lindsay will have to stay in Minnesota for 100 days.
“We’ll have to go to the clinic every day to check in,” she said. “If he has a fever, he’ll be readmitted to the hospital. He has to be fever-free for 48 hours before they discharge him. If he has a fever, the risk of infection goes up.”
They will stay at a Ronald McDonald House, which is five miles from Children’s Hospital.
“They provide two meals a day,” said Lindsay. “And cleaning supplies. They bill insurance for the lodging and we have a $10,000 lodging allowance with our insurance. We’re blessed that there’s a Ronald McDonald House there. But I’m not leaving his side once Eli is in the hospital.”
United Health Care has approved the transplant, said Lindsay. Ohio Medicaid was also approved for payment at the hospital.
“We were concerned about the Medicaid waiver since he won’t be receiving home health care while he’s in the hospital,” said Lindsay. “They (Medicaid) made an exception for us. I have to call his case manager every week to update her on his treatment. Otherwise we’ll be kicked off Medicaid.”
Alex, she said, has been approved for family leave from work. He’ll be taking time off on an as-needed basis from his job with First National Bank of New Bremen.
Helping the family
Various fundraisers have helped the family, said Lindsay.
“We still have to pay our bills while we’re in Minnesota,” said Lindsay. “We have student loans, car payments, house, utility bills and fertility cycle bills to pay. I’ll also have to buy food while I’m staying with Eli in the hospital. And pay for parking the car at the hospital. My niece is going to stay the summer with me to help out. She’s quitting her job and we need to pay her for helping us.
“We’re also going to pay one of the home health nurses to cut the bandages in the sizes we need while we’re gone. Then when Alex comes out, he’ll bring them with him,” she said. “We have life expenses that must be paid. And we want to give back to the people who are helping us.”
Eli has his own Facebook page where his life’s journey is shared. The page is https://www.facebook.com/rainbowbabybutterflyboy/ .
“Butterflies are the symbol of Eli’s disease because his skin is as fragile as a butterfly’s wings,” said Lindsay. “He’s also a rainbow baby because he was born after I suffered a miscarriage.”
There’s only one cure for EB, said Lindsay, and that’s gene editing.
“They would snap out the bad part of the gene and then put it back (into the person),” said Lindsay. “But that’s six years away. We do know that even with the transplant, he would still be able to have the gene editing done. Even with this transplant, he will still have EB. We just hope it helps his healing process and makes his skin stronger.”
Eli, she said, has never worn shoes, even though they have tried to find a pair that fits him.
“He has four layers of bandages on his feet,” she said. “It’s too thick for him to wear shoes because it hurts him.”
Lindsay feels gene editing will provide the answers to a lot of people’s prayers.
“Once they cure EB, we’re hoping they will be able to cure any genetic condition,” she said.
To learn more about EB, visit Debra.org.