© Mowat-Wilson Syndrome Foundation
This is my story about my beautiful son Samuel, born 10-19-2004, who has Mowat-Wilson Syndrome. My pregnancy with Sam was the easiest pregnancy that I had out of my three children (Sam has a sister, Heather who is 12 years older than he is and a brother, Austin who is 4 and a half years older) hardly any sickness, no signs of probable miscarriage, no severe headaches and so on. We went in to have an ultrasound at 22 weeks pregnant, to check Sam’s feet (our other son had club feet) and his overall health, I remember before that appointment I kept praying that his feet were ok, at that point that was the hardest thing I had to watch one of my children go through. We were very happy when we heard they looked great but knew something was being looked at too long. At the end of that appointment we were told our son had a VSD, borderline nuchal thickening and marked right pelviectasis (enlarged kidney) these were some soft markers for Down syndrome. We started having regular fetal echos and regular ultrasounds and always walked away hearing even worse news every time. We decided not to have an amnio; we felt it was not worth the risk. As we got closer to delivery we had to change plans from a birth center (comfortable, very little medical intrusions friends and family close by) to a very closely watched extremely medically involved delivery thinking we probably would not even get to hold our son when he was born. Delivery day came with just under 12 hours of induced labor (fast for me) and we were scared when he was born. Sam was extremely blue and would not cry or breathe for a few and the NICU team had to work with him aggressively. They finally got our Sam to cry and let me hold him for just a moment (thanks to his dad, he felt it was important that we get a sec) before they took him in an incubator to the NICU. He was the biggest baby there at 8lbs 13ozs.
The days following Sam’s birth were so intense, there was Dr. after Dr., people I had never met telling me horrible things. Sam went from the NICU to the PICU then was able to come home when he was 9 days old. At that point we knew our son did not have Downs nor did he have the hydrocephalus they suspected. We also knew Sam had a muscular VSD, pulmonary valvular stenosis, pulmonary artery sling, complete agenesis of the corpus callosum, he did not appear to be able to see, slightly enlarged right kidney with a right renal collecting system, a very pronounced pectus excavatum, a large hemangioma on his sack as well as undescended testes, and finally low muscle tone and strength. I was so thankful for the wonderful nurses that gave us comfort and helped us so much, and for the most part some of the Drs. knew they were giving us bad news and were very kind about it. For some though it seemed we just had an interesting baby. I have learned it is not always good to be interesting, especially when it comes to Drs. In November we had an eye Drs. appt and had to once again try to accept that our son could not see, and had septo-optic dysplasia. That same night at home Sam had his first episode of fighting to try and breathe and unfortunately his sister was the one holding him when it happened. I don’t think she will ever forget it. We rushed to the ER where unfortunately we had our first experience with Drs. that had no clue about our son and thought we were over reactive nervous parents and at least had put him on a monitor and oxygen. Until I stood in front of him and called Sam’s cardiologist on call and told him what was happening. He then asked me to put the ER Dr. on the phone and was promptly told what was up and that he needed to transfer Sam to Seattle by an ambulance that is capable of handling the issues at hand. We did not know at that time that there were different types of ambulances. It was a scary ride because Sam kept having moments that his airway suddenly seemed to get cut off. It was so distressing watching him fight for air. Over the next couple days in the PICU we learned Sam would need to have surgery to repair his sling before it did permanent damage to his airway or else we would need to do reconstructive surgery on that as well. Surgery was set for less than a month later and we were able to go home with a sat monitor and oxygen and a prescription of caffeine. Surgery day came and we checked in, about 15 minutes or so after they took him from us we got a page to check in at the surgery waiting desk, we were met by a child life specialist and told they decided not to do the surgery that day and she took us to the PICU to wait for the surgeon. We knew something went wrong. Finally we saw the team go by with our son unconscious with a lot of monitors and Drs. watching everything. The surgeon came in and told us that Sam had gone into cardiac arrest immediately upon being sedated, that they had to perform CPR for approx. 2 min. and we were now waiting to find out if there was any brain damage. Fortunately there were no signs of damage. The surgery was moved to another hospital that had a piece of equipment that they thought would be necessary if we had the same thing happen. This time though surgery took a long time, everything went well, thank you to God and wonderful Drs., and we were able to take him home three days later. Sam finally started to put on weight and he did not have to work so hard at eating. Due to Sam’s other heart problems most colds sent him back to the PICU with either respiratory distress or dehydration, other than that things were stable for a bit. We had already been to see the geneticist and knew they felt Sam had Mowat-Wilson Syndrome but they also felt he fit in to other syndromes somewhat. We sent off blood samples and everything came back negative. It was not until three tests and three years later, 12-2007, that we received a positive result for MWS using MPLA analysis that identified a deletion in the ZEB2 gene. He also has microcephaly, development delay and some of the facial and physical features common to MWS. Sam had surgery for his testicles 03-06 and cardiac catheterization with pulmonic valve balloon dilation in the spring of 06, I believe that was his second one, had to remove tonsils in 11-06 and in 01-07 he had VSD repair and also repair of his pulmonary valve using a donor patch. He had some difficulty after that surgery and had to remain on a breathing tube and intubated for just over a week, as things tried to stabilize. Once again though he pulled through after a few scares and two weeks later we got to go home. Recently Sam had casting done of his left ankle and will eventually have to have surgery on that but for now he continues to wear braces and does just fine. Sam has frequent sudden bloody noses and it is scary when he has them while sleeping, we did not think it was possible to bleed that much. Sam started having seizures just before the age of two, some have been really bad. Up until the last six months they were able to be controlled by medication but now it seems we cannot get it back under control. Some days he can easily have over 30. We are never without Diastat or Lorazepam. Now, about Sam the child. He is a very happy boy 90 percent of the time, can make anyone smile no matter what kind of a mood they are in. Sam gained vision at 3 months and though it was not good vision it was something and it continued to get better. Sam is delayed significantly, started rolling over at 13 months, hated being on his tummy, really did good babbling and sat by himself about 18 months if placed in the sitting position, and army crawled at about two years. He could sit himself up around 3, about 3 and a half Sam started crawling, he can now also pull himself to stand and do some walking with a lot of assistance. Sam is unable to feed himself or hold his bottle. He has severe food allergies which include dairy, soy, wheat, gluten and bananas and needs his food pureed to a soft consistency. Samuel loves to throw anything he can and enjoys turning pages in books, looking at pictures, (not animated) is also a favorite. He has some words and we also work on picture choices and signing. He loves to play with our dogs and his siblings and some favorite people, it can be hard though because Samuel hits and head bangs a lot. We do not believe he understands exactly what he is doing but that does not change the fact that it hurts. He also hits himself and will slam his head into hard objects. He does wear a helmet at times to protect him. We have a special bed for Sam now. He had broken his arm twice in his crib due to banging we think and fell out head first, so the insurance company finally said ok. I swear if Sam wants something, especially at the dinner table, his arms just stretch about 6 inches it is amazing. He has been in therapies since about 6 months old and is now in preschool. All his therapists and teachers have been incredible and Sam easily becomes a favorite to those he sees often. We are fortunate that he only had severe constipation but not Hirschsprung’s disease and that we also have insurance that although slow at times has provided some very important equipment that has helped him, and therapists that know what he needs and have always been willing to go the extra mile. Drs. that look out for his best interest and family that adores him. His dad and I separated when he was 6 months, and I met someone who loves Sam as does his children and Sam’s dad married someone who adores Sam also as does her children. I do think Sam’s favorite people are Heather and Austin though. He has extended friends and family that adore him and he loves also. No one walks away from him untouched, I don’t mean only from him hitting, everyone loves Sam….did I already mention that….. We thank God for Sam and for the people He has put in his life to help him all the time. We do know that without all the prayer and love Sam would not be where he is today.