Below is a compilation of stories told by parents of children with rare diseases to spotlight Rare Disease Day, Feb. 28. A disease is considered rare in the United States if it affects fewer than 200,000 people. One in 10 people in the U.S. suffers from a rare disease or disorder. Today’s designation is designed to raise awareness of rare diseases and to promote research to advance treatment and cures.
Rachel Scott, family support coordinator for the NICU Nest with Riley Children’s Health, invited families to talk about their journey with a rare disease. Following are some of their stories.
Charlotte Grace, as told by her mom, Tiffany Reuzenaar
Twenty weeks into pregnancy is supposed to be such an exciting time. You get to see how big your little peanut is, and if you choose, find out if you are having a boy or girl.
My husband and I went for that anatomy ultrasound on a Wednesday, my day off. It happened to be my OBGYN’s day off as well. Everything was exciting until I saw the facial expression of the ultrasound tech. I looked at the screen, and it was hard to differentiate things. She excused herself. It felt like a gut punch, not knowing why she left.
In comes one of the doctors I had seen previously. She let me know they were unable to tell me what I was having. That I had barely any amniotic fluid, and that they were not able to find kidneys. They wanted to send me to a prenatal diagnosis with one of Indianapolis’ hospital systems. They were able to get me in the next day.
After the ultrasound, a male doctor told us they could not find kidneys, and half of the heart was not working. It would just be a matter of time before our baby passed.
My OBGYN called me after the appointment to ask how it went, and I told her what they had said. She gave me my options. While we waited for the results of a genetics test, we would do weekly heartbeat checks with the doctor. Weeks went by, our baby girl was still with us, and eventually she started gaining a little more amniotic fluid with each ultrasound. My doctor decided to send me to see Dr. Sherrine Ibrahim with IU Health Maternal-Fetal Medicine.
We got in very quickly, but this experience was much different than before. Not only did we see Dr. Ibrahim, there was a whole care team for us. A cardiologist came over for an ultrasound and told us that our baby’s heart was working fine. All chambers were pumping as they should be. My husband and I were shocked. The experience was completely different. Every person we met was so kind, caring and empathetic. The doctors set up an MRI at Riley Hospital to check to see what the status of our sweet girl’s kidneys were and anything else they may find. At that later date for the MRI, there was a possible small functioning kidney. Her lungs were also underdeveloped from not having amniotic fluid for so long.
We had checks with both my primary OBGYN and Dr. Ibrahim and her team. Once we got close to my due date, we had a meeting with our baby’s entire care team. I had never heard of such a thing happening. It was incredible to have all these people who would be responsible for her around one table.
On Aug. 28, 2015, I went in for a non-stress test with my OBGYN. A C-section had been scheduled for the next week. Our baby failed the NST. I was sent to Methodist Hospital for them to monitor me. It did not seem like I was hooked up long before we decided it was time to get this sweet girl out. Dr. Lauren Dungy-Poythress got our girl out quickly. Charlotte Grace was born at 9:14 p.m., weighing a whopping 2 pounds, 12 ounces. It was a few minutes before we heard noises from our daughter, but when we finally did, it was such a sweet sound.
They took her quickly to be able to work on her. I sent my husband with them. He was able to hold our sweet girl before they intubated her. Once I had been taken back to my room, my husband came in and let me know they were going to bring her to see me before she was taken to Riley. I remember them bringing her in; she was so tiny, intubated, wires everywhere.
I was released from Methodist a day early due to how grave her prognosis was. We almost lost her the second night. The nurses let me hold her that entire night. Around 8 a.m., I met Dr. Gregory Sokol as he was rounding. We had some difficult conversations, but he was kind and understanding about it all. He took in what I was telling him, and we made a plan to basically help her the best we could.
Charlotte Grace lived for nine days. The time at Riley was the longest, quickest, biggest blur in my life. We had so many amazing nurses and doctors who came to check on us during our stay. The woman who would come in to straighten up our room every day was so kind. The child life specialist made sure we were able to navigate various programs, and they made sure we had toiletries. The nurses made sure I ate, made sure I occasionally left the room to get some sunshine, and reminded me frequently I just had a major surgery. We also made lifelong friends who were next door. There are so many good people, so many amazing Riley parents to lean on.
Charlotte Grace passed away early Sept. 7, 2015. I would not have had any of that time if it were not for Riley Hospital. They gave us every second with her. About a month after her passing, Dr. Sokol called me to let us know that testing came back and Charlotte had a chromosomal abnormality called Triploidy Syndrome. Instead of two sets of chromosomes, she had three total sets. Triploidy babies typically do not survive past the first trimester. He told me he had never seen a triploidy baby make it to term, let alone nine days of life. She is a miracle. I cannot thank Riley and the entire team for giving my family time with our sweet Charlotte Grace. Our lives are forever changed from our brief time with our sweet angel.
In 2016, Tiffany and her husband, Justin, started an annual toy drive honoring Charlotte’s birthday and benefiting the Riley Cheer Guild.
Kamdyn Weikel, as told by his mom, Kelsie Weikel
Hi, my name is Kamdyn, and I am 17 months old! I have something called Cornelia de Lange syndrome (CDLS). My mommy found out a little bit about my diagnosis when she was 20 weeks pregnant. She found out that I had something called micrognathia and a cleft palate. Micrognathia is a condition in which the lower jaw is undersized. She went to Riley Hospital once a week after to make sure I was growing the way I should be.
When I was born, I had to have a breathing tube because my jaw was small, and my tongue was covering my airway. I also had to have a feeding tube to make sure I had the nutrients I needed. All the doctors were so amazing and took great care of me.
When I was in the NICU, the genetic doctors came and took some blood from my umbilical cord after I was born. My parents waited anxiously after the blood draw for the results. Then the day finally came, and all the genetic doctors and nurse practitioners sat down with my mommy and daddy, and they got the news about Cornelia de Lange syndrome. Children with CDLS have lower birth weight and are smaller in size and height with a smaller head circumference. They may have moderate to severe intellectual disability, behavior problems and autism. Some children also have distinct features and hand, arm and finger abnormalities. At birth I had three fingers on one hand, a heart murmur, webbed feet, lung disease and cysts and fluid on my kidneys.
I had surgery to put mandibular distractors in my jaw. The surgeons came to my room twice a day to turn the distractors to help my jaw grow out. The distractors were a success, and I was able to get down to a half liter of oxygen. I was able to leave the NICU after 134 days.
I work with a lot of Riley doctors. I also do physical and occupational therapy. I see pulmonary for my lung disease and my central sleep apnea, and neurosurgery for the shape and size of my head. I also see plastic surgery for my hands and for my micrognathia. I have had several surgeries, and I am having surgery April 11 for my webbed toes and my hand. I am seeing cardiology for my pulmonary stenosis. Urology is for my kidneys. I also see audiology because I have severe hearing loss in both of my ears. I wear hearing aids but might wear cochlear implants in the future. I follow up with a developmental doctor to make sure my feeding is going well and I'm growing the way I should be. I also see immunology for my weak immune system.
I have been home since Feb. 10, 2022. Even though I have been in the hospital several times with pneumonia since my lungs aren’t as developed as they should be, I am a very happy baby. I have two older brothers and an older sister who absolutely adore me.
Archer Ruzic, as told by his mom, Olivia Ruzic
We chose our second son’s name when I was only two months pregnant. My husband, Jesse, is fascinated by both history and architecture. He loved the symbolism behind the gothic arch, which was designed to point up to God. We also had our first kiss under an arch in Chicago on the college campus we attended. So, he suggested the name Archer for a boy, and I liked it immediately. WIth one caveat, “I don’t want to call him Archie, just Arch.”
After my anatomy scan at 19 weeks, I was called back because Archer’s head was measuring too small. The follow-up ultrasound revealed no problems or concerns, except that he might be a smaller baby. My doctors were not concerned about his growth or any markers, so no additional testing was recommended. I still couldn’t shake the feeling something was off with my pregnancy, but I chalked it up to nerves.
He was born after a relatively easy delivery on March 8, 2020, when we were living in Michigan. He was nearly 9 pounds and beautiful with a thick head of dark hair. But he didn’t cry and as the moments went on, it became clear he wasn’t going to start crying on his own. He was rushed to the NICU and treated for severe pulmonary hypertension.
More and more issues were revealed over time. His diaphragm was in the wrong place, his kidneys were misshapen, and at 3 days old, he developed a life-threatening coarctation of the aorta that required an immediate open-heart operation. We were amazed as his heart surgeon sketched out the aortic arch – it looked like a tiny gothic arch. His surgery was called an “arch reconstruction,” and we joke that from that day on. our lives were reconstructed in powerful ways.
He came home and began to heal alongside us and his big brother, Jack, but he had to have multiple follow-up procedures, and he struggled to eat by mouth.
At nearly 6 months old, he was still using an NG tube, and pulling it out was becoming his favorite hobby. During surgery to place a G-tube, he suffered a thalamic hemorrhagic stroke.
People all over the globe prayed for him. He survived and by the next week, he was moving his arms and regaining strength in his face to smile. A few weeks later, the stroke specialist who looked at his imaging was amazed, “It's remarkable. Any adult who sustained a brain bleed this size would have gone into a coma. He should not be moving or interacting the way he is. Not only that but he doesn’t have any signs of swelling on the brain or spinal fluid leakage. Remarkable.”
After his stroke, we chose to relocate to Indiana to get to the bottom of Archer’s health issues. Specifically, to get him into Riley. The first month we lived in Indy, Archer developed infantile spasms, a serious progressive seizure disorder. He was quickly treated with ACTH, an aggressive steroid treatment.
While we were treating him for the spasms, Riley called with results from further genetic testing they’d done. Archer tested positive for both Kabuki Syndrome, a rare genetic syndrome that causes both developmental and medical challenges, and RYR1, a muscle mutation both Jesse and I were carriers of. We didn’t know we were carriers because our first son was both healthy. He was also discovered to have primary immune deficiency, so he gets plasma infusions weekly at home.
Archer lives up to his name. All the hardships he has overcome and his continued joy truly do point up to God. In spite of his struggles, he is truly a happy boy. He loves being tickled and playing with brightly colored toys. He gets a kick out of his high-energy brother, who loves to make him laugh. His laugh is the most beautiful sound in the world. We are truly thankful for him and all the ways he has reconstructed our lives.
Aurora Brown, as told by her mom, Samantha Hinman
After 11 months of trips in and out of doctor appointments, Aurora was referred to the genetics team at Riley Children’s Health.
The first time we met Dr. Mary Stuy, we felt like we had known her for years instead of minutes. By the end of the visit, Dr. Stuy had Aurora's diagnosis figured out, a diet change to best suit her, and labs drawn to verify that Aurora had Pyruvate Dehydrogenase Deficiency (PDH), a rare disease of carbohydrate metabolism that affects fewer than 1,000 people in the U.S.
Symptoms include poor feeding, rapid breathing and progressive neurological issues, including poor muscle tone, delays in motor development and poor eye tracking.
The genetics team at Riley was so supportive. Katie Schumacher, a genetic counselor, even reached out a few days later to check and make sure that we did not have any further questions. She did such an amazing job explaining Aurora's diagnosis and was extremely patient in answering all of my questions and concerns.
Nine years later, Aurora is still with us, strong as ever. I truly believe that without the genetics team at Riley, that may not have been the case. Their knowledge and quick response gave me back my daughter. I am truly grateful for them.
Compiled by IU Health senior writer Maureen Gilmer, firstname.lastname@example.org