Mooresville boy is only child in world with this genetic disease
CHARLOTTE, N.C. (WBTV) - Christine Patterson said she worked on sending the letter below for six months. So much happened in the course of that time, her words had to keep getting updated. It’s long. It’s powerful. It makes you want to hug the kids in your life tightly.
I encourage you to read it as a reminder of how you just never know.
”It was hard to explain what we’ve experienced,” she said. “I’ve gone through every emotion possibly, but now – as I hit send – I’m finally ready to share our story. I’ve met many parents of medically complex children and if Silas can make them feel a little less alone, that makes it worth it to me. Plus, maybe someone out there who reads this will have an idea for us.”
Silas, Christine’s gorgeous son, instantly grabs attention in photos. What the pictures don’t show is that he’s living with a condition so rare he is literally the only child in the world with it as the diagnosis.
Christine said that’s what’s so hard: Rare illnesses and genetic conditions make you feel isolated. They’re RARE. By definition, there aren’t many like you.It seemed most authentic to post Christine’s words directly. It’s quite a story. Guaranteed, she’ll be reading comments (if you feel compelled to leave one), or if after going through her letter if you want to write her a personal note, feel free to email it to me and I can forward to her and connect you both.
Thank you, Christine, for writing. Hopefully, this shines some light.
Dear Molly, You and I have actually met. I contacted you to be the keynote speaker at the Professional Women’s Network Annual Conference in Mooresville, NC a few years ago. It was a great talk and I still refer back to your book sometimes during our meetings. After that meeting, I started following along and reading about amazing #MollysKids in our area. My heart hurt for the families being shared. I remember thinking to myself, “I don’t know if I could handle that sort of situation.”If someone had told me then that I’d later be in one of those situations, I wouldn’t have believed them.
For one, I didn’t plan on having more children. Fate is weird like that. Well, last year my husband and I conceived another child. We already had a 12-year-old daughter together and an 18-year-old (his from a previous relationship that lives with us full time; I’ve been in his life since he was 2 and consider him mine). We were overjoyed to welcome a new baby boy to our family! My pregnancy was uneventful until about 26 weeks. Because I was high risk due to my age (36), I had regular appointments and ultrasounds every week. The doctor noticed a heart difference during a routine ultrasound and referred us to have a fetal echocardiogram. The echocardiogram showed a small heart defect called an “Interrupted Inferior Vena Cava with Azygous Continuation.”
She said it shouldn’t cause my son any issues and often goes undiagnosed. She said no intervention was required and no need for follow-up. We were relieved but, understandably, still nervous. Fast forward to my due date. Silas was born on August 4th, 2021 at 8:30 pm. We immediately fell in love. He had a strong will and was just so beautiful.
He was also swollen. He looked like Rocky Balboa after a fight, so the medical team transferred him to NICU to observe him for a few days and give him Flonase to bring down the swelling. They thought since I carried so low in my pelvis, it caused the swelling. He was also breathing a little rapidly. Other than that though, he seemed to be overall healthy. We were discharged after 5 days (two days in NICU and three days in our room). We spent our first week at home adjusting to newborn-hood. We were in awe of this baby and enjoyed taking care of him. I was young (23) when I had my daughter and had more maturity this go-round. I wanted to savor every moment of baby bliss with Silas.
You know... I wanted to do it right.Although we were enjoying time with Silas, we were becoming increasingly concerned that his swelling and rapid breathing weren’t improving. By our two-week pediatrician appointment, we’d been at home a total of six days and I had that gut mom feeling something wasn’t right. We didn’t make it very far into the pediatrician appointment when our doctor suggested we take Silas straight to the ER at Levine Children’s Hospital. She called an ambulance and on August 17th we were admitted. It would be a very long-time before we left. Silas was admitted due to respiratory distress, but after a few days of scans, tests, etc. we knew it was much more. That’s when our entire world changed. Silas was diagnosed with a list of rare conditions that seemed to have nothing to do with each other. This is the list we got two days into that hospital stay:
HETEROTAXY: A rare birth defect that involves a “different” arrangement of the heart and other organs. (In Silas’s case, his liver and spleen were reversed, his Interior Vena Cava had missing portions and he had some small differences in his heart and vascular system).
POLYSPLENIA: A congenital disease manifested by multiple small spleens, rather than one full-sized, normal spleen. (Silas has 8-12 small spleens instead of one at normal size.)
BILIARY ATRESIA: A blockage in the tubes that carry bile from the liver to the gallbladder. Those born with this condition typically need one or more liver transplants. (Silas was born with a rare version of Biliary Atresia in which his bile ducts never formed at all. His gallbladder was also absent, instead of partially formed.)
MALROTATION: A birth defect link that occurs when the intestines do not correctly or completely rotate into their final position.
VENTRICAL SEPTAL DEFECT (VSD): A birth defect of the heart. There is a hole in the wall that separates the two lower chambers.
ATRIAL SEPTAL DEFECT (ASD): A birth defect of the heart. There is a hole in the wall that divides the upper chambers of the heart.
Quite a list. We were floored. How could our precious baby boy have all these problems and we not know until now? He was feeding well, sleeping, and seemed okay other than the rapid breathing and swelling. And despite all the diagnoses, there was still no explanation for his respiratory distress.
None of the conditions he had should have caused breathing issues. While we wondered about that mystery and tried to get a plan together, Silas’s condition was quickly deteriorating. He was transferred to PICU. We were there less than 12-hours when Silas coded. Cardiac arrest. I remember one of the nurses (who I now know by name and consider almost family), looked me in the eyes and said “There are about to be a lot of people coming in the room, okay? Can I get you all anything? Do you want to step into the hallway?”
I couldn’t figure out why she was saying this at first. I didn’t even realize he’d stopped breathing until everyone started rushing in. It happened so fast. After two rounds of Epinephrine, chest compressions, and using the ambu bag, Silas regained a sinus rhythm. But he had coded for four minutes. That meant a risk of brain damage. I can’t express what I felt during those longest four minutes of my life, but I can tell you I hope no parent ever has to know those feelings.
Only as I write you, I know that many families go through similar experiences with their children. We’ve met many of them during our stay, and many of them are stories you tell. Our children are living miracles, braver than they should ever have to be, and children inside these hospital walls win and lose battles every day. Us parents see each other in the elevator frequently and exchange knowing glances, simply exhausted from this alternate universe we live in. After Silas’s code, we settled in on the PICU floor where he was intubated. He stayed that way off-and-on for months. He was on heavy sedation and my husband and I never left his side. I was on FMLA leave from work and our 12-year-old daughter went to stay with my mother in Virginia and did virtual learning.
My husband had taken an (indefinite) leave of absence from his job to care for our son. Ultimately, we knew I’d have to return to work as I was the one with the better insurance benefits (I worked for the Town of Mooresville NC). During Silas’s PICU stay he underwent a surgery called the Kasai Procedure to address the Biliary Atresia. This procedure had a 33% chance of working to help jumpstart his liver into draining properly, though Silas’s chances of it working were even less because of his rare version of Biliary Atresia. He had the procedure on August 31st, 2021. Dr. Bambini gave him a rainbow-shaped scar on his abdomen that we talk about to Silas and tell him where it came from.
It can take up to 3 months to know if a Kasai Procedure worked or not, so we waited anxiously, obsessing over every lab result. We’d feel hope when it trended up and disappointment when it’d trend down. Ultimately, it was deemed a “failed Kasai”. This meant Silas would need a liver transplant sooner rather than later, and open heart surgery to repair his heart defect. If you’re still reading this -- and I hope you are -- please know that we were determined to fight. We were hopeful Silas would live a long life, though his breathing still complicated everything. Doctors had ruled out every cause of respiratory issues. It was hanging over our heads with no answers.
At the end of September, we finally figured out the respiratory problem: Silas was diagnosed with a “competitive abdomen.” Basically, due to his anatomical issues (organs not in the correct place, enlarged liver due to Biliary Atresia, multiple spleens, etc.), Silas’s liver and other organs were pushing up against his diaphragm and didn’t allow his lungs to fully expand to take a breath. Our son was an anomaly. The doctors at Levine said they had never seen a baby like him. You know how I like to refer to that? I like to say, and I am borrowing this from a doctor who said it first, but I like to say that “Silas is writing his own story.” He isn’t following any textbook case. Still at this point, though we thought everything going on inside him was unrelated. That felt wrong to me. Just seemed something was tying it all together.
Last September we got news that made sense. Results from genetic testing done during his first weeks of life finally came back. I remember the day we got them: September 26th, 2021. Up until that day, we thought we could get Silas better. But when the genetic counselor said they had found a chromosome abnormality, we knew that meant our son wouldn’t ever become fully healthy. Silas had 18 p- Deletion Syndrome, a rare chromosome abnormality that can cause a broad scale of issues. Silas was the fifth baby in the world ever reported to have one of the versions of the abnormality, and the only baby ever reported to have this specific type of condition.Our special son, Silas. He was truly one-of-a-kind. We were understandably devastated. Our hopeful future for Silas came crashing down, though with time we’ve built it back up.
The new information re-focused us on his breathing. The medical team tried a new strategy with Silas, that eventually got him off intubation, but wasn’t a sole solution. After much heart-searching and research, we made the decision to get Silas a tracheostomy. Within two weeks, our baby started to flourish. The trach allowed him to be a baby and experience the world. He began to be more alert and interactive. Since Silas now had a secure airway, we were able to move out of the intensive care unit to the 8th floor. Although we were scared, we would come to know this floor as our second home and the medical staff as our family.
There we learned how to take care of our “trach baby” and got trained on his equipment. I don’t know how, but eventually, we became comfortable enough to begin envisioning life at home with our son with us as his caregivers. We’d been watching as families got released and rang the “golden bell,” a rite of passage before discharge. We clapped and cried and cheered for other families on their happy day, and yet, we still remained. For six months total, we stayed hospitalized. In December, Silas’s medical team said he was ready to go home. They felt confident we were experienced enough to care for him... only by then we were in a nationwide nursing shortage. It meant we’d have to stay another month in the hospital waiting for home nursing. Silas was required to have nursing 16-hours per day.
Finally, finally, finally: Discharge Day came. January 19th, 2022. We rang that golden bell. The first few weeks at home were sheer terror, crying, and wanting to go back to the hospital… it was hard to leave our little bubble of safety on the eighth floor of the hospital. But we loved our time at home. We had our family back together. Unfortunately, we knew hard times were coming. We knew Silas’s still needed that liver transplant and open-heart surgery. Levine Children’s recommended we call Children’s Hospital of Philadelphia (CHOP) because Silas was just so complex.
We packed Silas and all his equipment in the car and drove to Philly to see six different specialists over a period of a week… but ultimately the hospital declined to take his case and perform his surgery. It was just, they said, “too risky.” When I found out my son was medically complex, I never thought getting turned down by a hospital was something we’d face. We always thought that if your baby is sick, doctors will help. I have found out that’s not always the case, especially if your baby is the only diagnosis known in the whole wide world. Our next try was Duke Children’s Hospital. The team seemed open to helping Silas… but eventually they also declined his case. We were devasted. Duke also informed us that no other hospitals in NC would consider Silas.
They said we needed to try a larger hospital with more resources. So again, we were on our own. We reached out to probably eight different facilities, all the largest centers in the US that take on complex cases involving the heart and liver. I started receiving calls from a few hospitals declining, a few that were interested, and then one hospital that stood out: UPMC Children’s Hospital of Pittsburgh. The doctor said they took a case similar to Silas’s and they’d love to help him if possible. I broke down crying. Happy tears. Relieved tears. Finally, help. Again, we packed up Silas and all his equipment and drove to Pennsylvania, this time the opposite part of the state. We checked in on June 6th, 2022. We are still here. Silas had his open-heart surgery on June 23rd… that same heart surgery that multiple hospitals turned down. He recovered beautifully! There have been some complications along the way – he developed pneumonia and two other infections – but he is past those now and on the other side.
Our baby boy is so strong.Our next step is to focus on getting him a liver transplant. It’s coming just in time too, because Silas is in end-stage liver disease. He is getting sicker as his liver function declines. It’s hard to watch your baby go through this horrible experience. We are hoping Silas’s heart pressures will be stable enough for him to be listed on a donor list very soon. In the meantime, we are exploring the live donor option and our family and friends are getting tested to see if they are a match.
Fortunately, the liver regenerates, so Silas can (hopefully) accept a portion of a live donor’s liver. We continue to hear that because Silas has “so many complicated issues” there is more risk involved with this procedure. We understand, but to us, it doesn’t matter. He is our son. This little boy deserves a chance. We are ready to see him get past these large mountains. We want him to reach his full potential, whatever that might look like.I can’t imagine my life without Silas.
He amazes us every day. We are in awe of him as a child and a fighter. I realize now that Silas’s condition is perspective to us on how to always live a beautiful, unscripted, appreciative-of-the-moment life. Thank you for reading. For sharing these stories of amazing kids in our area with, as you say, “uphill medical battles.” I say with conviction, ours is very uphill, but our family continues the climb.
- Christine Patterson
As I said on the front end of this post, if you’d like to write Christine directly either comment below – I’m sure she’ll read every word – or email me at email@example.com with a note you want me to send her. Just put in the subject line, “For Christine.” I won’t ever share anyone’s personal information but if you send one to me, I can forward to her and if she wants to connect with you directly, she then can. As always, the Good, the Bad, and the Always Real.#MollysKids
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