MWS Family of the Month – The Stegg Family

Released March 1, 2022

By Ashley Stegg

Pregnancy loss after pregnancy loss is hard. Really hard. The kind of hard that makes you take multiple tests to make sure you’re still pregnant. The kind of hard that requires you to see a specialist from the very beginning and requires you to have 7 different ultrasounds. The kind of hard that makes you count every single one of your blessings. Sophie is that blessing. From the very beginning, Sophie was perfect. Every ultrasound, every appointment, everything! At 38.5 weeks, the doctors decided to induce labor because I had a lot of extra fluid. I was adamant that I didn’t want to have my baby on April Fool’s Day, so we chose to induce on March 31, 2011. From start to finish, it took ten hours and twenty-one minutes of pushing for Sophie to enter this world. She was 7 pounds, 11oz and 21 inches long. Sophie was welcomed by all of her family, but there wasn’t anyone anticipating her birth more than her brother, who had been asking for a sister. Shane was 10 when Sophie was born, and he was instantly smitten.

When the on-call Pediatrician evaluated Sophie, we were informed that she had a heart murmur, but it wasn’t anything to be too concerned about and we could follow up with her doctor later, once we left the hospital. That first day Sophie would not eat; she hadn’t passed any stool and seemed to be uncomfortable. Sophie spent her first night in the nursery so her tired mama could sleep, even if it was only for a little bit. The nurses had to give Sophie formula because her blood sugar dropped so low. The next morning, she had an x-ray because her abdomen was swollen. As I was sitting on the couch pumping breastmilk, Nurse Linda walked in. Linda was the same nurse I had when I delivered my twins, who passed away shortly after they were born. She had seen me go through the most unimaginable pain that has ever existed. She had held my hand as I said goodbye to my boys. When Linda walked in, her words “Things are going to get scary, but it will be ok” echoed from across the room. Linda explained to me that Sophie had a bowel obstruction and was going to be rushed to the Children’s Hospital. Sophie spent 6 days in the NICU. We found out that not only did Sophie have a heart murmur, but she had two. Sophie also had a PDA, ASD and Pulmonary Stenosis. The doctors thought that Sophie did not have a normal bowel movement because she had a bowel obstruction, then they thought it might be Cystic Fibrosis, then later, Hirschsprung’s Disease, which was confirmed a few weeks. Sophie ended up having her endorectal pull-through surgery when she was only 8 weeks old!

Thankfully, Sophie’s heart conditions did not require immediate surgery. The doctors wanted to give her time to gain weight. She needed to be at least 10 pounds before they would perform any heart procedure. Once a month, Sophie had to see her cardiologist. Not once did the cardiologist suggest anything more could be going on with Sophie. This time in Sophie’s life was hard. We had to give Sophie irrigations and dilations of her rectum because she had Hirschsprung’s Disease and surgery to remove six inches of her colon. Sophie would scream for hours and hours. Passing gas was painful for her. We tried laying her on her belly for short periods, but Sophie hated it. We tried giving her back rubs, but she hated that too. I tried a chiropractor, but Sophie didn’t improve. Nothing would soothe our sweet Sophie. My husband was working the 3rd shift, so I had to care for Sophie through the night and early mornings. I was exhausted. When Sophie was feeling good, she would smile and laugh. She was an overall happy baby unless her belly was hurting. Because I was a first-time mom, I had no idea what to look for developmentally. I knew Sophie was progressing slower than other children but chalked it up to her heart conditions and having to work harder just to live.

Sophie finally gained enough weight to have her first heart catheter when she was 5 months old. Her cardiologist was able to open her pulmonary valve with a balloon and put a coil in to correct her PDA. The surgery was a success, and Sophie was able to go back home that evening.

I went back to work and was lucky enough to have a family friend, Capri, who could watch Sophie for us. It was such a blessing knowing that she was in good hands. Capri was the first to notice that Sophie wasn’t tracking or making eye contact. Thankfully, Capri had a son and knew what to look for. We took Sophie to a specialist and the specialist wanted to do an MRI to check her eyes to see if there was a medical reason that she was not tracking properly. This specialist worked out of a children’s hospital that was bigger than the one where Sophie’s cardiologist was. Sophie’s cardiologist sent over her latest echo and EKGs so that her Ophthalmologist could have everything needed to proceed with an MRI. The MRI was scheduled. Sophie and I were kept in pre-op for 12 hours – and she was not allowed to have any food or drink – NOTHING! – because her new team wasn’t confident her heart could withstand going under for her MRI even though her cardiologist had cleared her. Unfortunately, we never had her MRI that day. One week later, I took Sophie to the children’s hospital where her cardiologist was located and they performed the MRI without hesitation!

Holding Our Breath

At the Children’s Hospital that performed Sophie’s MRI, we were met by an angel disguised as a doctor. This doctor, I don’t even know his name, was assigned to check on Sophie while we were waiting for her MRI. He came to our area and asked me if we had ever considered DNA testing. I was shocked by his question and told him “No, why would we?” He explained that when a child has all the different medical conditions that Sophie has, it is usually an indication of something bigger going on. In that moment, my entire thought process shifted. What I thought I knew, I didn’t. What I thought was ok, wasn’t.

The phone calls started on November 1, 2011. I called two different Children’s hospitals to get Sophie an appointment with a geneticist. The first hospital scheduled Sophie to be seen April 2012. I called the second one and they scheduled Sophie for May 2012. I didn’t want to wait that long, but I didn’t have a choice. I sat at my work desk and prayed that Sophie would be seen sooner so she would not have to wait 5-6 months. The very next day, I received a phone call from the children’s hospital that said they had an opening the NEXT WEEK! We took the appointment. We were asked to send pictures to the geneticist’s office before her appointment. The pictures they asked for were very specific: Profile, eyes, hands, feet, head. It was all a little overwhelming. During the appointment, the doctor had a list of different syndromes written down. Nothing on that list matched anything I had researched. Mowat-Wilson Syndrome was on the top of his list. He was confident that this was exactly what Sophie had and he wasn’t going to test for anything different. This doctor studied and worked under the lead research doctor out of Seattle. To say we got lucky is an understatement. Getting insurance to approve Sophie’s genetic testing went smoothly and we were able to get the approval and her blood drawn the same day as Sophie’s appointment. Then, we waited and waited. We tried to go on with life as normal, but there was this lingering feeling that all we were doing was holding our breath, waiting for the ball to drop!

Day of Diagnosis

On January 2nd, 2012, I was driving to a sales call when my phone rang. I saw who it was, and I wasn’t sure I wanted to answer the phone, but I did. It was Sophie’s geneticist. His voice was calm but sad. He chose his words very carefully and asked me to schedule an appointment, so he could review the results of Sophie’s testing. I said no. I asked him if he recalled the day we were in his office and I said that I needed to get the information as soon as he had it and I needed to hear it over the phone. Reluctantly he agreed. I can still hear his voice saying the words “Sophie is missing her ZEB2 gene, which means she positively has Mowat-Wilson Syndrome.” I responded sarcastically saying “Awesome, great. Just what we wanted to hear!”! He asked if I knew what he was saying, and I said yes and hung up the phone. I turned my vehicle around and drove to my 10-month-old baby girl. I held her and sobbed. I felt numb. Once the numbness wore off, I started to grieve for my child. I had already grieved the loss of my twin boys, but this was an entirely different type of grief. My husband Dan was also grieving, but men do it differently. Thankfully, we drew closer instead of pushing each other away.

We both felt that this meant the death of our dreams. We felt that we were in an alternate reality, but it was our new, complicated life. Were we prepared for what all of this meant? Could we handle the challenges and demands of raising a child with disabilities? Where did we need to start? How did we need to start?  We had so many questions and very few answers. We started receiving services from Early On, which is an agency that provides early intervention services for infants and young children. In home therapies were now part of our daily life. Relationships were formed, bonds were made, and information was gained. Through the in-home therapists, we were connected with another family, just five miles from our home, who also had a child with Mowat-Wilson Syndrome. I wasn’t sure how this was possible since it was so rare, but it was. Maggie and I connected. She came over to meet Sophie and I was able to meet Logan. Instantly, we bonded and became friends, family really. Maggie was able to give us information about resources we didn’t know about. The only reason she did was because she had a few years on us with her son Logan!

During this time, our family had to navigate life differently than we had ever imagined. We also had to wait for Sophie to gain enough weight, again, so she could have her second heart catheter to repair her ASD hole. We celebrated Sophie’s 1st birthday with tons of family and friends. I decided that we were going to do big birthdays because we would never be guaranteed a tomorrow with her. So many people love Sophie so much, and for that, we are extremely grateful.

Sophie’s heart catheter was scheduled to be inserted in June of 2012. I remember coming home from work and walking into the living room. My husband was napping, but Sophie wasn’t; instead, she was having a seizure. Her left arm and leg were twitching. My husband did not know how long she had been having a seizure because he thought she had been asleep. We rushed Sophie to the hospital, which was only 4 minutes away, but I was terrified sitting in the backseat holding my baby girl. It took more than half an hour in the ER for the seizures to stop. We knew seizures were a part of having MWS, but we were hopeful that maybe somehow Sophie would be different! This all happened the day before Sophie was scheduled to have her 2nd heart catheter. Again, I felt like our dreams were fluttering away and I was stuck in an altered reality. Sophie didn’t have a neurology team at the Children’s Hospital until that day. But after this, our local, community hospital was able to call them and put a plan in place.

Meeting with Sophie’s neurologist was overwhelming and heartbreaking. It just seemed to be one more thing added to the list of Sophie’s ailments, as if living wasn’t hard enough for her already. EEG’s were scheduled, diagnoses were made and follow up appointments were on the books every 2 months unless there was an emergency. Sophie was first diagnosed with infantile spasms, and the steroids didn’t help. She was prescribed Keppra after another ER visit due to seizures. Many of us know how awful that medication is. It is even more awful when you go to a local pharmacy late at night and they fill your daughter’s prescription wrong. We unknowingly gave Sophie too much medicine for an entire month before it was caught. Yes, that really happened! During that time Sophie was still having seizures, so the Keppra wasn’t working, even at the higher dose. Next, we tried Topamax, which worked for years to help lessen her seizures. Over this time, Sophie was also diagnosed with Tonic-Clonic seizures.

Hope on the Horizon

Sophie’s seizures were pretty much controlled by Topamax. Not completely, but enough that Sophie was able to have her heart catheter inserted to help control her ASD. Her cardiologist went into the surgery intending to fix Sophie’s ASD. Unfortunately, Sophie’s ASD has gotten bigger and could no longer be fixed through a catheter, so she needed open heart surgery. Sophie’s cardiologist recommended that we go to the larger Children’s hospital (the one that refused to give her an MRI). It took some convincing but because her cardiologist said this was the best there was, we went with his recommendation and transferred Sophie’s care to the larger hospital. This was definitely the best decision ever! An amazing medical team was created for Sophie, and her ASD was repaired with a Gortex patch. She has the smallest, most delicate scar, which made her part of the zipper club! After her surgery, Sophie seemed like a completely different kid! Sophie was awake more, and she was happier. She was moving and interacting more and then all of a sudden, she could see and had zero vision problems other than astigmatism. Just a few months later, Sophie started crawling. She was 2.5 years old. Open heart surgery gave us the hope we needed.

Sophie continued to grow and change. She would have bouts of seizures and then months of being seizure free. Sophie would make great progress and then have many setbacks. Sophie’s seizures changed over time, and she was diagnosed with Lennox-Gastaut Syndrome, which is an epilepsy syndrome that basically means your child has multiple types of seizures that don’t respond to medication. This diagnosis was so very disheartening. Thankfully, today, Sophie has been seizure free for 4 months after a new type of seizure appeared. We now know that Sophie can be seizure free, even if only for short periods, and that gives us hope.

Sophie has said “mom” only a few times, but this has been one of the best blessings I have been given. Currently she cannot use words, but we know she has them, deep inside. Hopefully, we will hear them again! In the meantime, to communicate, Sophie uses her Tobii Dynovox speech-generating device, which is equipped with eye gaze technology.

Sophie’s preferred method of moving is crawling. She can crawl circles around anyone! She has a walker that she uses at school, but she tires easily when she uses it. Her AFO’s make a huge difference as well as her Benken protective vest. We are hopeful that one day, Sophie will walk unassisted because she is fortunate to have so many tools, therapists and different types of equipment.

Be a Light

It is so easy to dwell on the dark days – the ER visits, the long hospital stays, the life-flight helicopter that flew over your house with your daughter in it, the seizures, the setbacks, the crying in pain and you don’t know what is wrong. It is OK to have those days, but we refuse to make camp in that dark place.

Sophie is a light to everyone around her. Her smile is mischievous, and her laughter is contagious. My sour patch kid will sweeten you up just to give you a taste of sour!

Sophie loves her people, and she recognizes them when she sees them. She will sometimes play hard to get. She might give you a hard time with a smile on her face and then just when you think she is all sour, she will wrap those arms around your neck and give you the best hug or a headlock!

Sophie is joyful. She is happy 99% of the time. When she isn’t happy, something is wrong. She is proof that true joy comes from within!

Sophie is a force! She is the reason ALL the Meijer grocery stores have Caroline’s Carts, which were created specifically for children with special needs. It took us 3 years to make it happen, but it was totally worth all the work.

Sophie is the face of a new barrier-free playground that will be opening in the spring. Her cuteness, her smile, and her sass were all captured on video to help raise the funds needed to make this playground a reality.

I often think about what it means to be Sophie’s mom. Yes, it means I am here for the hard days, but the true gift is that I will always get to be here for the really good stuff too! It means I get to be her biggest cheerleader in everything she does. With the help of Sophie’s daddy, I get to advocate for all the things that she needs. I am the one that gets to feed her, hold her when she isn’t feeling well, cuddle her when she’s tired and put her to bed when it’s time. Although this life is exhausting at times, being Sophie’s favorite person in the world has lit a light in my life that I never knew I needed until she shined upon me.

From the beginning, we have told everyone that Sophie was going to change this world, one heart at a time. Being her mom has given me a front row seat to watch it all happen!