The life of caring and advocating for children with special needs and rare diseases is worth the fight
By Jillian Morris
I had a completely normal pregnancy. In fact, I think my doctor said it was “perfect.” Looking back, the only indicators that Vaughan was different was the incredible amount of hair visible on the ultrasound (a key feature of babies with Bohring-Opitz Syndrome) and the fact that he kept his hands clenched with his thumbs tucked (a sign of possible neurological problems) while he remained in the womb.
He was born healthy and had a large heart-shaped birthmark on his forehead (also another sign of Bohring-Opitz Syndrome). After about four hours, he started having significant problems: he had severe reflux, trouble regulating his body temperature, he couldn’t pass his newborn hearing screening, and he had developed sepsis.
I had called the nursery three times before a NICU doctor came in and broke the news to me. She started telling me how he “looked different” and that he had “dysmorphic features.” Then she just came right out and said, “I think he has an underlying genetic syndrome.” I was in complete shock, as you can imagine. To me, he was just Vaughan. He was perfect to me!
We had tests completed to look for all the known alterations, additions, and deletions in genes, and they all came back totally normal. We were finally able to bring Vaughan home, but after four days we took him to the pediatrician and he had not gained enough weight. His pediatrician called Children’s Hospital in DC and talked to a geneticist who recommended admitting him. He was put in the NICU for three days while we saw every team of doctors: gastroenterologists, neurologists, geneticists, cardiologists, audiologists, and more. After having an MRI, they determined he had a complete agenesis of the corpus callosum (bundle of nerve fibers that allows the right side of your brain to communicate with the left side, and vice versa). We also were told he had hypoplasia of the cerebellum (which causes difficulty with motor skills).
The doctors couldn’t tell us what that meant, or how much it might affect him. I had a geneticist hold my hand and look me in the eyes and promise me we wouldn’t leave without an answer. Even so, four days later, after spending time on a regular children’s floor, we were discharged with more questions than answers.
When he was four months old we were told he had high myopia—extreme near sightedness. He cannot see further than six inches in front of his face without his glasses.
He also had surgery to stop his reflux when he was about 15 months old, after we had been pleading with his GI doctor to please help us since he was about three or four months old. He would vomit and spit up literally 80-100 times a day, sometimes whole bottles. I knew that wasn’t normal.
Vaughan wasn’t diagnosed until he was almost two years old. The geneticist told us they had found something. Vaughan’s condition was caused by a random genetic mutation that occurs on the ASXL1 gene on chromosome 20q11, which results in Bohring-Opitz Syndrome (BOS). The actual mutation was found in 2011 and Vaughan’s test was in 2014, so the fact that we had been diagnosed was incredible. If Vaughan had been born in 2011 or earlier and had had the whole exome sequence, they wouldn’t have found anything and it would have come back normal. The geneticist told us that it was extremely rare and that Vaughan has a more mild to moderate case. He proceeded to hand us five sheets of paper … it was the only study that had ever been published about BOS, since only 40 known cases had been diagnosed at that time. Today there are 84 and the number continues to grow as awareness becomes more prevalent.
While it was great to finally have an answer, there was no prognosis. After receiving the diagnosis, I rushed home that night and googled BOS. HUGE MISTAKE. While there was more information on the internet, the more I read, the more shocked and worried I became. All the stories I read about BOS were of children who had passed away, typically before the age of two because of respiratory infections or complications due to surgeries.
I remember turning to my then husband and asking, “Do they all die?” I was panicked and I couldn’t sleep for nights on end. By that time, though, Vaughan was already two and seemed like he was out of the “critical period,” so that was a huge blessing.
During the time we were getting diagnosed, we had been going to appointment after appointment since Vaughan had been out of the hospital to make sure he stayed healthy. He got glasses when he was four months old and his first set of hearing aids when he was about six months old. Later, he had ear tubes inserted and no longer needed hearing aids. Today, on average, we have between one and three specialist appointments per month in addition to other appointments, including durable equipment vendors, orthotists, and his pediatrician.
Looking back, the only way I think I survived the first two years was because of the help of my parents and my faith. I think a lot of people would agree that no one would ever choose to have a medically complex child, but for some reason I was chosen by a higher power to be the keeper of Vaughan’s soul for however long he is here with me. At first, I think it’s normal for people to think “why me?” but in my case, it’s more like “why NOT me?”
Our Lives Together
I literally try to take every day one step at a time. Finding caregivers to care for Vaughan when I am working is a constant struggle. My mom is such a blessing and assists me with his care. But because of regulations, my mom, and anyone else I hire, can only work 35 hours a week. I find we are constantly going over hours, and I cannot afford to pay for additional hours.
Going to the grocery store is even a difficult task. Because he is so small, he still fits in the front basket. He weighs 30 pounds, and the AFOs (foot/ankle braces) he needs to wear add additional weight, so when I lift him and take him from the car to the entrance, it is a workout. Then, when I get the cart, it’s tough for me to get him into it without the assistance of another person.
Stares and looks from other people are something I typically encounter at the store. Sometimes individuals come up and try to say hi to him, but faces are difficult for Vaughan and are actually very complex to him. Generally this challenge, coupled with his high myopia, results in Vaughan not looking at anyone speaking to him. It’s easier for me to tell people “he’s a very special five-year-old.” This allows me to let them know he has some challenges other children may not have. Usually that does the trick, and the quizzical looks change to looks of understanding. Occasionally, we experience the whispers of those who do not try to say hello.
There is one day I’ll never forget. Vaughan was in the shopping cart and two young girls were standing behind me in the checkout line. I heard one of them whisper, “I wonder what’s wrong with him?” I was stunned. To me, there’s nothing “wrong” with Vaughan. He just happens to have been born with a random genetic mutation that has given him lots of challenges most people never have to think about facing. He is who he is and he was made this way. I just wish instead of whispering and staring, people would smile and ask questions. I want people to ask me about his challenges or ask about HIM as a person. “What does your son like to do? What school does he go to? Where did you get his glasses?” are the type of questions I would love to answer. I’m like any other mom, and he is like any other little boy.
Since I don’t know what the future holds for Vaughan, I try to exercise and to eat right. I make a conscious effort to be as healthy as I can so I can be around longer to take care of him, since he will need to be cared for his entire life. That’s something most parents don’t have to worry about: what will happen to their children when they are gone.
Having Vaughan has made me a better person. I try very hard to not judge others because you never really know what other people are struggling with in their lives. I have learned to let go of trying to have a spotless house and to be perfect. Although difficult for me, I have also realized it is necessary to lean on others. I am an expert on my child, and if I don’t agree with what a doctor or specialist is saying I’m not afraid to express disagreement and take action to seek out a second opinion.
I have also learned to be more selfless, and to actively help other people. I feel comfortable being emotional because that’s my way of showing how much I care. Most of all, I’ve learned that I have an overwhelming capacity for patience and love. There’s nothing I wouldn’t do for Vaughan and the great thing is, I know there’s nothing he wouldn’t do for me.
Advocating For Vaughan
“Can I really make a difference?” That was the question I asked myself as I stood in the hallway outside of Senator Warner’s office during Rare Disease Week on Capitol Hill. I looked at the hopeful faces of the advocates around me, including parents who had lost children and those currently diagnosed with rare conditions. I looked down into my bag at the 8” x 10” picture I had been carrying with me for the past 24 hours and saw the sweet smiling face of my son. I touched his pink pudgy cheek through the glass and thought, “I have no choice. I am his mother and I am his voice. I was chosen, for a reason, to do this.”
Although I have lived in Virginia almost all my life and have seen the Capitol building and its many adjacent buildings dozens of times, I had never actually been a part of the lawmaking process. I have voted in the past three presidential elections and tried to keep up with politics as best as I can.
I work full time, am a single mom, and care for a child with multiple disabilities. These responsibilities take up the majority of my time. So when I was personally asked by the chair of the Bohring-Opitz Syndrome Foundation to attend Rare Disease Week on Capitol Hill and advocate during the lobby day, I was hesitant, but honored, by such a request. After all, this was a chance to meet others with rare diseases and be a part of something greater, so I said yes.
Fast forward to the first meeting I attended with Senator Warner—it didn’t go so well. While we didn’t get to meet Senator Warner in person, the 20 advocates did get to meet a member of his staff. As a first-timer on Capitol Hill, I learned quickly that this is the norm. Rarely does anyone ever get to meet their actual representative. Silly me!
The staffer didn’t seem genuinely interested in our particular “asks,” which included: more funding for the National Institute of Health and FDA to further advance research, therapy, and potentially lifesaving technology; support of the Open Act to successfully repurpose drugs; changes to the Affordable Care Act to make it better for all families; and an invitation to the Rare Disease Caucus being held the next day. I never actually spoke during the meeting, but I did find strength in the fact that we were one of the largest groups of people lobbying that day. However, I couldn’t help but feel a little deflated as well.
If there’s one thing I have learned as a mom of a child with special needs, it’s to not give up. So I marched the distance equivalent to the length of three or four football fields to the House of Representatives side of the Capitol with all the other advocates to continue on our quest.
Other functions during Rare Disease Week included a meeting with the staff of Congressman Garrett, Congressman McEachin, and Senator Tim Kaine. All of these meetings were much more successful. We were warmly invited into the offices for our meetings. The staffers themselves were much more personal and a lot less intimidating.
I openly shared the story of my son and how he is one of 84 children in the world currently diagnosed with BOS. I educated them on the fact that during the first two years of life, 50 percent of the children who have BOS pass away due to respiratory infections and pneumonia, and the oldest living person with this syndrome is 27 years old. Over the course of these meetings, I explained that the future is so uncertain without proper healthcare, and further research desperately needs to be conducted. I looked into the eyes of the young 20-somethings dressed in their suits and made them listen to my pleas for more, not just for my son, but for all those with rare diseases. To my amazement, they listened. I learned that two of the four staff members we met with were in one way or another affected by someone with a rare disease. The staffers were genuinely excited to take our stories to their bosses and make them listen, too.
I don’t know how far up the chain our requests will get, but I can’t help but feel that my story is part of a much greater whole. Looking back, yes, I advocated for change. Yes, I spread awareness about my son and his rare syndrome, but my favorite part wasn’t about having my voice heard or about potentially changing laws or legislation. My favorite part was talking to the people I was surrounded by and hearing their stories of strength and hope.
My fellow constituent and partner from district 5, Brian, is an amazing father and husband who has a rare, incurable tumor and cell disorder. Carolyn, a retired Army veteran and wounded warrior, has a rare disease that makes her skin blister. Amelia, the beautiful all-American girl who was misdiagnosed over the course of 15 years and is living with Lyme’s disease was also in attendance.
Meeting these individuals was the highlight of my whole experience. Their humor and fortitude is something I will always remember, and I will always keep their friendships close to my heart. While the future of those with rare diseases, especially in our current political climate, is uncertain, I do know one thing for sure. Rare disease is not just an issue affecting one person or one family. It’s not about Republicans versus Democrats. It’s an issue that may affect us all. In the words of my new friend Brian, “There is always hope and if we can slowly chip away at the problems we face today, our seemingly small efforts can and will pay off for future generations. Hope is on the horizon.”