‘The chances were 1 in 1,000,000.’: Mom shares journey to son’s extremely rare Trichohepatoenteric Syndrome diagnosis

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“March 30, 2021 was the second best day of our lives. The first best day was the day his big brother Graham Was born . He was our rainbow baby .Wellston Hayes Varney was born at 37 weeks, exactly weighing a BIG ole’ 4 pounds 4 ounces and 18 inches long.

You see, Wellston’s story from the beginning has always been frightening and scary. At 24 weeks, I was diagnosed with a severe case of IUGR. Intrauterine growth restriction, or IUGR, is when a baby in the womb (a fetus) does not grow as expected. The baby is not as big as expected for the mother’s gestation. The main complications are due to placenta issues or genetic issues.

We shortly after did genetic testing and it ruled everything out. No one really understood why this was happening because I had a perfectly normal pregnancy a year before. They had told us maybe it was because my body didn’t heal from his brother and having short interval pregnancies .

Starting at 28 weeks, we were told Wellston could come any moment if they felt the need to take him. He stayed in the negative 1 percentile for his gestation until 37 weeks. From 28 weeks and on, a roller coaster of emotions started. I would go to 2-3 appointments a week to monitor Wellston to make sure he could make it to 37 weeks. Every time going into those appointments I was prepared to be ready of the possibility of delivering him. By the grace of God he made it to 37 weeks exactly.

Couple expecting their second son together take a photo while showing off the woman's baby bump
Courtesy of Molly Varney

March 30, 2021, Wellston made his grand entrance to the world. Oh boy, was it an entrance too! When I tell you this little man has always been on his own agenda, he has. I remember hearing our amazing nurse tell us, ‘Molly, Wellston is here’ as she was frantically calling my doctor who was on special call for us. Wellston had his own plan and didn’t want to wait on our doctor and decided to come when he was ready. The emotions I felt seeing the NICU team come in and doctors rushing in was scary. We didn’t know what to expect from our little baby. We didn’t know if he was going to have to be rushed off to the NICU or I would get to actually hold him in my arms and by the grace of God we got to meet him right away. It was a truly blissful moment.

Young mom of 2 holds her newborn preemie son after giving birth
Courtesy of Molly Varney

Hearing your baby cry is always a moment a parent cannot wait to hear. Seeing his daddy crying because our son made it here and healthy was the moment I needed. He did great for the first few days and we were so shocked and so were all the nurses around us. He was holding his temps and sugars well and was doing just great! By day 3, we ended up having to go to NICU due to Wellston starting to drop his temperatures. We landed almost a week and half in the NICU and he did great, then we headed off to home! How amazing, right?! I remember crying and thanking God I got to take our son home to meet his big brother who at the time was 1. I craved that moment to have my whole family together for the first time. With being born in a pandemic, having a baby isn’t ideal right now due to all the restrictions, so his brother couldn’t come meet him when he was born. This moment was everything for me.

Mom holds her newborn son, a preemie and NICU warrior, in the hospital wearing matching "tiny & mighty warrior" shirts
Courtesy of Molly Varney

Remember when I said Wellston is always on his own agenda?! Fast forward to a couple days later at home, Wellston started acting lethargic and having severe diarrhea and not waking or wanting to eat. He also presented severe acidosis. He was almost grey in color. We rushed him to the ER. When we got to the ER, it was all a blur to me a little. The nurses up front asked to see Wellston. When I removed his car seat cover, someone had said, ‘Someone get this back to trauma now.’ They rushed my baby away.

In a moment like that, I can’t tell you how it feels as a parent. My husband was out parking and getting our son to our family, so I was alone. The moment will forever be instilled in my brain. The nurse said, ‘Mam, I’m going to need you to sit in this wheelchair.’ ‘Mam, are you okay?’ ‘Mam, hold on honey, just sit here and I’ll take you there.’ Writing those words makes my blood go cold. I couldn’t stand, I couldn’t think, I couldn’t talk. They wheeled me into the room where my 3-pound, 11-ounce baby boy was laying with doctors all around. Looking back at the memory, I can’t even piece it all together because I was so frantic and out of it. I wish that moment on no one. As a parent you feel helpless. You truly feel like you are in a living hell.

On April 14, 2021, Wellston was admitted to Nationwide Children’s hospital with severe acidosis, severe dehydration, failure to thrive, acute kidney damage, a blood infection, coronavirus (not COVID-19), and hypothermia due to low body weight and not being able to keep his temperatures up. We were soon admitted down into NICU, where we stayed a long two months treating Wellston for his blood infection and virus. He was placed in a isolate to help him keep his temperatures up and to help him grow. During our NICU stay, Wellston still presented severe diarrhea. We tried so many things and no one could seem to figure out what was going on. Something in my mama gut told me something was seriously wrong. The doctors thought it was more than likely a post infection diarrhea that was taking a long time.

Little boy battling an unknown illness looks grey and sickly while in an isolate in the NICU
Courtesy of Molly Varney

We soon after got transferred to the GI service and moved floors. We spent another month and a half there of the unknown again. At one point we had eventually been on about 5 formulas. We had so many ups and downs. When I say we were heartbroken of the unknown and seeing our son so sick is a understatement. When you have a sick child and you have no clue what is going on, you feel helpless. My husband and I many nights would come home and cry because we didn’t know why this was happening or why couldn’t we figure out what was going on. The doctors had told us it had to be something rare going on and this doesn’t happen often where all the common things help. But this case was so different, everything we had tried was not helping. We were so frustrated, we felt like we were never going to get a diagnosis.

On August 2, 2021 our lives changed. Trichohepatoenteric syndrome (THES) is a congenital rare and severe Mendelian autosomal recessive inherited genetic disease with an estimated prevalence of 1:1,000,000. That means you line up a million people and Wellston is only ONE out of those million people who has THES. There is less than a 100 cases reported globally.

Little boy with rare Trichohepatoenteric syndrome sits in a car seat while attached to oxygen tube
Eden Photography, LLC

Trichohepatoenteric syndrome is characterized enteropathy, presenting mainly with early-onset of life threatening severe diarrhea of infancy beginning in the first month of life, usually leading to failure to thrive and requiring total parenteral nutrition (TPN), facial dysmorphism characterized by prominent forehead and cheeks, broad nasal root and hypertelorism. Hair abnormalities described as woolly and easily removable. Immune disorders resulting from defective antibody production and intrauterine growth restriction. Wellston’s mutation of this is SKIV2L . The SKIV2L gene mutation has been shown to be the more rare and severe end of THES, with immune deficiencies which cause Wellston to be resistant to vaccines and have infusions of IGG for his immune system. This gene also has been shown to have more liver issues that can result into severe liver disease.

The main complications are liver disease and infections, which in some cases can be very serious or life threatening. There is no cure for THES. Most children like Wellston are treated with TPN (total parenteral nutrition) and IGG infusions. We don’t know the severity of Wellston’s case because there is not a lot of literature on THES since it is so rare. Like we said, 1 in a million. Wellston is the FIRST child diagnosed at Nationwide Children’s Hospital of Columbus, Ohio with THES. Wellston’s immune system is also so delicate, he is so high risk for viruses and infection, so for a while we will be protecting him. We ask no visitors until we are ready. RNA viruses are very BIG and SERIOUS to Wellston’s immune system. The common cold to you is nothing, but to him it’s life threatening. Hearing that during a pandemic is the most freighting thing for your child who is immune compromised.

Little boy battling rare Trichohepatoenteric syndrome looks very sickly while connected to a bunch of wires in the hospital
Courtesy of Molly Varney

Wellston’s doctor last week told me how he has seen a lot of moms in his career and I have been one of the best moms he’s seen in a long time. I swear there is a point to this, I’m not bragging I promise, BUT hearing that from a doctor and not your family and friends (which thank you for always cheering me on) who sees so many families means so much to me because it gives me the strength to keep going. But honestly, I couldn’t be the mom I strive to be for our boys if it was not for their dad being by our side. We love you Elijah so much! We take on this challenge hand in hand because having a sick child is not easy or for the faint heart. Having a sweet, healthy 2-year-old and balancing his sick brother is hard – I mean HARD. You know I often hear from our nurses and doctors how truthfully Wellston wouldn’t have made it much longer if we didn’t get to the hospital in time and it shakes my soul. My son truly is a warrior. He has fought for his life since the womb. If you’re not amazed or moved by this little boy, I don’t know what else could possibly do that to you. He is such an inspiration and a miracle.

I was lucky to have met some moms with children with THES and they have been a God send. They had told me it’s okay to mourn the life of what we had thought it was going to look like with our two boys. I imagined our life with two healthy boys, not life with multiple doctor’s appointments and someone so delicate or a child who has to have a broviac and has constant nutrition running through his body to survive. Even a simple bath he cannot do because of the risk of water getting into his central line . He can’t just run and jump in a baby pool with his brother if he wanted to . Those are normal things for a child. But you know what? What I always imagined was being a mom. I know it is one thing that will never change. I may be a mom in a different way or maybe my boys look at me as a superhero (how awesome would that be?!), but the one thing that didn’t change was being their mama no matter what happens.

I often ask God, ‘Why me?!’ It’s been a lot to process and take in, but honestly I am more than grateful to be a momma to these two boys. They are both incredible. I know we are going to raise them to never judge anyone and to never take advantage of the small things in life. Money and looks and all these things our culture nowadays puts into our brains of ‘normal and awesome’ is not the truth. The truth is life is so precious and so fragile and really the most valuable things in life is our family. We often take advantage of the smallest things in life and Wellston has thought us that those small little things we do take advantage of are big things to us. We try to always celebrate even the littlest thing with him. I pray Graham will always stick up for his brother and they always have a bond. I pray I raise my boys to believe in the good man above and to pray and thank Him for every single blessing we have encountered. Our life is not the same as others and that’s okay. We were given this path and we are going to kick ass doing it.

We waited a long four months for a diagnosis and so much unknown and honestly it could have costed him his life. I NEVER stopped advocating for my son EVER. I cannot tell you how many nights I would sit and research and research, writing things down and educating myself to help figure out what was going on. You know they do say a worried mom does better research than the FBI. Kidding, but not really. I even had this written down in my notebook THREE days before we got our diagnosis, but I scratched it out and threw it away. Now you can’t tell me a mamas instinct isn’t right.

There is nothing possibly in this world as a parent to have you prepared to face things like this . This a whole new world I feel like I’m exploring but with my eyes closed. It’s like walking in a room full of people and feeling like your all alone . You feel lost and confused. What to expect when your expecting doesn’t have a chapter in it for medically complex children. There is no written hand book on how to handle these kind of life changes.

As much as I have gone through those feelings over and over again I also feel like I’m learning so much every day to better myself as human. Our son  has taught us so much about life. He has taught us to never take advantage of little things anymore and that even in bad moment we have to take it in and try to find the good in the bad. Having a medically complex child has made me so humble and shown me a mother’s love is so incredibly powerful. You find a way to keep going no matter the circumstances. It’s taught us as a family that we are a strong unit. We never go on without each other.

No Matter how many big steps we take back during this process there is going to be leaps of big exciting moments and maybe in the ‘big’ moments they may seem so little but we will always jump up and down and cheer him on. We will always be at the finish line waiting on him. We will always make sure he is no different than the next person.

Having a child with medical issues is honestly the best honor i have ever had. Crazy right?! It’s like a you are their super hero. Every battle you get through is a mission you completed using your big sur super hero powers, all while having one cute tiny super sidekick with you.

Many people have told me I saved my son’s life on April 14, 2021, but truthfully Wellston, you saved my life. You have and will save so many others’ lives. You are so special and I know you were here to make a difference because you already have. On August 2, 2021 our lives changed. But it changed for the better. Our journey is not over and God’s not done with us.

Special needs mom holds her young son with rare disease in the hospital he spent months in waiting for a diagnosis
Eden Photography, LLC

As long as THES is a rare syndrome, it can be easily missed ending up with the wrong diagnosis. Delaying the diagnosis will result in receiving the wrong management, which will affect quality of life or wrong treatment plans. There is no cure for THES and truly we are still in a world of unknown with Wellston. I want to raise awareness not only for Wellston but for others. We plan to have shirts made for our awareness and have everyone #wellstonthewarrior and wear them the day he gets released.

To the mom reading this late a night because she had a moment to herself, I hope Wellston made an impact. To the parents sitting in a hospital with a sick child of unknown or even with a diagnosis but still going through the trials, I have been there before. I hope Wellston made an impact. To whoever you are reading this, I hope Wellston made an impact. The internet is a powerful tool. If we can change just one life then we did something right. Do this for Wellston and all the others out there. I don’t care if you know us or not – save a life.”

Courtesy of Molly Varney
Special needs mom of two boys takes a family photo with her husband and medically complex child
Eden Photography, LLC

This story was submitted to Love What Matters by Molly Varney. Submit your own story here and be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.

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