MWS Family of the Month – The Rodriguez Family

Released April 1, 2022

By Kaylee Rodriguez

I thought I had the perfect pregnancy – no morning sickness, no food aversions, and no complications. Every test came back perfect, and the doctors always told us that our baby was healthy. As a first-time mom, I kept thinking “there’s no way this could all be that easy. There has to be a catch here.” At the same time, I knew I was blessed. On April 6, 2021, I was induced at 40+2 weeks and Emmanuel was born on April 7.

All the doctors predicted that Emmanuel would weigh 8lbs or less, but he was 9lbs 3.4oz when he was born. When I was able to finally hold my baby, I didn’t want to let go. I remember thinking he had the cutest little ears and I didn’t know who he got them from. I was having a hard time trying to figure it out because it wasn’t a feature I recognized from his dad or myself. Little did I know that this was actually a key facial feature that would help our genetic counselor predict that Emmanuel had Mowat-Wilson Syndrome.

While I was being rolled to my room after giving birth, the nurses took Emmanuel for his routine check-. A couple hours passed by, and I saw the door open- a nurse was pushing Emmanuel in his bassinet. The nurse came up to me and told me she noticed Emmanuel showing seizure-like activity. His arms were going stiff and he had jerky movements. My heart sank. It wasn’t something that I wanted to hear. I was in so much disbelief that I had to ask the nurse twice, “Emmanuel did that? No. Really?”. She told me that “so far” it wasn’t anything to worry about but told me what to watch for and to notify my nurse right away if I saw anything that concerned me.

The nurses and doctors kept a very close eye on Emmanuel. As the day went on, they started noticing more things – a droop on the right side of his face, a heart murmur, and a straight line on his palm. Around 5pm, one of the NICU doctors came to see us and let us know that with everything going on they thought it would be best to monitor Emmanuel in the NICU. We agreed. Emmanuel stayed in the NICU for a week and during this time, we learned that it was a high possibility that Emmanuel had Mowat-Wilson Syndrome and Hirschsprung’s Disease.

Emmanuel was finally able to go home, and we had to wait for the genetic test results to come back. After being home for two weeks, we noticed that Emmanuel wasn’t doing well with his feedings and he wasn’t having bowel movements as often as he should. After each feeding, Emmanuel would just throw everything up. His pediatrician recommended we try suppositories, but it was a temporary fix. He would eat a lot and then throw it all up after he finished the bottle. We went to the ER for the first time to see what was wrong. After expressing our concerns, we were told that Emmanuel was fine and that we could continue feedings as normal. We were so frustrated because we knew something wasn’t right but were told that everything was normal.

Emmanuel finally got a referral to see a pediatric surgeon for his bowel issues. At the appointment, we were told that he did not have Hirschsprung’s Disease, but they would do some testing later in the month. We left that appointment feeling a little disappointed. That same night, Emmanuel would not eat, and he was really tired, more than usual. We went back to the ER and this time they did some tests. They saw in the X-rays that Emmanuel’s digestive system was extremely backed up. He was admitted to the hospital and we started doing irrigations to clear his intestines. A biopsy was done while he was in the hospital, and we learned that he in fact had Hirschsprung’s Disease. Emmanuel’s first surgery was scheduled for the following week.
Emmanuel’s pull-through surgery went really well. A couple days after surgery he was able to go home. For a couple weeks, Emmanuel did great – he was having regular bowel movements and eating well again. One day, he just did a complete 180, not eating well, throwing up after eating, and not having any bowel movements or if he did, it didn’t look right. We contacted his surgeon and were told to start doing irrigations again. We started doing irrigations for a couple days and it looked like he was improving, but then things just got worse. We went to the ER and Emmanuel was admitted to the hospital for enterocolitis. He was there for about 5 days, getting irrigations 3 times a day and taking MiraLAX. Emmanuel ended up being discharged, but in a couple weeks, he had to go back because he had enterocolitis again. He ended up being admitted to the hospital 3 times for enterocolitis.

This was a very scary time, as it was hard to see our baby in pain and we could not do much but hope the medicine and treatments were working. By Emmanuel’s third admission to the hospital, his surgeon said that he would do a myectomy where they had done the original pull through. This final surgery was exactly what Emmanuel needed! We noticed major improvements in his bowel movements and he was starting to gain weight again. Emmanuel was in the clear.

While Emmanuel was going in and out of the hospital, we got the genetic results back. We learned he has Mowat-Wilson Syndrome. When we got the results, I immediately went on Facebook and started looking for support groups and found other families with children with MWS. I didn’t realize how rare the syndrome was until I found out that we were the only family in Hawaii with a child with MWS. Honestly, it was a relief to finally have a diagnosis but at the same time, I was scared to know what all this meant for Emmanuel’s future.

When we met with our genetic counselor, we found out that MWS affected many parts of Emmanuel’s body – both mentally and physically. My first thought was that it was my fault. The genetic counselor reassured us that it was something that we couldn’t control. Yes, it was a genetic mutation, but it wasn’t something that we passed on to him. My husband and I were both tested to be sure and our results both came back negative – we didn’t have the gene. We went back home to do our own research and try to find programs for Emmanuel to help with his development.

Emmanuel has started receiving Early Intervention Services and they have been the best thing for him. His therapists help with his development and give us advice when we need it. Emmanuel will turn one soon, and I have been able to reflect on the past year with him. He is one of the happiest babies that I have ever met. He never fails to put a smile on my face and has shown me what true strength is. We’re so grateful to have been blessed with such an amazing son. We love him more and more every day. If I have learned anything this past year, it is this: don’t lose sight of the bigger picture. Despite all the hardships our children may face, we always have each other!