To the Nurse Responsible for My Daughter's Rare Diagnosis


10850183_915548661789050_1688561760785653349_n Eva was born one month premature on Dec. 12, 2010. I had good prenatal care and several ultrasounds during my pregnancy, which led me to believe that I was going to have a healthy baby girl. When Eva was born, the first thing I noticed was the large heart-shaped birth mark on her forehead. Her long fingers that were tightly clenched in a fist. She had beautiful blue eyes and a gorgeous full head of hair. Due to mild husky breathing, she was sent to the neonatal intensive care unit (NICU) for observation. That first night I spent in the hospital without my baby, I worried about other things being wrong. Something didn’t seem right to me. I remember being reassured that everything was going to be OK. I was reminded that I was tired. The next day I tried to nurse Eva in the NICU, but upon attempting, we noticed Eva had a high-arched palate and a weak suck. We then resorted to bottle feeding, but Eva would vomit every time we fed her.

On Eva’s third day of life, the doctors discovered she had an intestinal obstruction. Eva’s pancreas had grown around her duodenum, which was strangling the intestine and preventing digestion. She was transported to a larger hospital with a bigger NICU and pediatric surgical staff.  While Eva recovered, the doctors recommended further genetic testing. But all the tests came back negative. Her chromosome karyotype was even normal. Upon discharge we were told that Eva could have some medical issue, but we were reassured it was most likely not going to be significant.   

My husband and I brought Eva home on Friday, Dec. 30, 2010. The first few days at home were rough. Eva still couldn’t latch and breastfeed. It took an unusually long time to feed her. I’d work with her for hours, but she wasn’t getting the milk.  She didn’t cry to be fed. Her breathing seemed noisy.  I was greatly concerned, but I kept moving forward, knowing we’d have a baby checkup to address our concerns in three days.

I explained to the pediatrician that I felt Eva had feeding troubles and I believed she was catching a cold. I wanted to see a geneticist. The doctor told me the noisy breathing was due to her high-arched palate. He reassured me Eva was fine and told me to just focus on getting Eva to grow for the time being. He didn’t feel there was anything wrong with her. In this doctor’s eyes I was a tired mother with unbalanced hormones. I left feeling empty-handed. We took Eva home and watched her closely.   Two days later, her breathing became labored, and we ended up in our local emergency room. We nearly lost Eva. Time stopped as we watched doctors and nurses working to get her breathe. Eva had RSV Bronchiolitis and ended up in the pediatric intensive care unit (PICU) for several weeks.  

We hoped this first respiratory infection and hospitalization was just going to be a little bump in the road, but it turned out to be the first of many. During the first six months of Eva’s life, she was hospitalized six times due to respiratory infections, extremely poor feeding, severe gastric reflux and choking. The pediatrician finally assisted us referrals to see several specialists — a gastroenterologist, an ear nose throat (ENT) doctor, and yes, a geneticist.

The gastroenterologist put Eva on special formulas, but she still was not growing. Eva also had another chromosome test (micro array), which was again negative. After several conversations with one research hospital, we were told that they suspected Eva had a very rare syndrome called Opitz C syndrome. But when I read about the clinical characteristics of the syndrome, I didn’t believe the potential diagnosis fit our daughter’s symptoms.  There wasn’t a DNA test available to confirm the indicated syndrome.   

Eva was still failing to thrive. At the age of 6 months, she weighed eight pounds. I decided we needed a second opinion. Instead of battling with our pediatrician for more referrals, we had our gastroenterologist help request a referral to see specialists at Children’s Hospital Los Angeles. 

It was there, during a pre-genetics appointment, that we met Sally Ward, a pulmonologist. She evaluated Eva, put her on oxygen and admitted her to the hospital.

During our five week stay, we learned a lot about Eva’s medical issues. We learned that Eva had obstructive sleep apnea and she was aspirating while feeding. An excellent dietician immediately discovered that we’d received incorrect formula mixing instructions and Eva was not getting enough calories. 

This was a turning point for me as a parent. I realized more than ever that my instincts were real and that I needed to be more persistent and involved in Eva’s medical care. I realized if I didn’t do my part by asking questions and learning as much as I could about Eva’s health, I wouldn’t be able to help her.

I was grateful that Eva’s health was improving and that she was finally getting the medical help she needed. I was grateful that we were beginning to understand Eva’s needs, but I still longed to have a diagnosis for her. It just seemed that if we had a diagnosis, I would be able understand her illness, possibly prevent complications and perhaps meet other mothers of children with similar stories who knew what I was experiencing.

During the first hospitalization, we met many excellent nurses. They were all truly dedicated to helping Eva. They kept my spirits up the entire stay. Eva’s LVN, Michele Luce McConnell, was extremely dedicated. She was truly a wonderful support to Eva and our family. She helped me understand why certain tests were being done and explained medical terms. She also told me not to give up. Every day I would tell her that I wish we could solve Eva’s syndrome mystery. Michele always gave me hope. She even offered to help me research syndromes online. I never expected Michele to use her personal time, but she did.

One Sunday night just before the nursing shift change, Michele came running into Eva’s room. She told me to look at two Facebook pages online. She carefully warned me that she was not trying to tell me what syndrome Eva had, but she insisted I take a look. The first Facebook page she showed me was dedicated to a little girl named Lauren Marie Graham from Alaska who passed away due to feeding intolerance when she was 20 months old. The other Facebook page was for a little boy named Okke Van Gemert from the Netherlands, who was 5 years old. I spent hours, actually the entire night, looking at pictures of these children and reading their stories. There were significant similarities between these children and our little Eva. The baby pictures of the children looked like our little Eva.  The facial appearances were astonishingly similar. I instinctively knew that night that Michele had found Eva’s diagnosis.

Both Lauren Marie Graham and Okke Van Gemert had a rare syndrome called Bohring-Opitz (C-like Syndrome). There are only approximately 35 diagnosed children in the world. Since Eva was expected to be discharged within days, I decided to keep the information to myself and learn more about the syndrome so I could be prepared with many questions to ask during our genetics outpatient follow-up appointment.  

I decided to contact the mothers of the children from the Facebook pages. I shared information about Eva with them, and they added me to the Bohring-Opitz Facebook group. Within that group, I met several other mothers online from around the world who had children whose stories were nearly identical to Eva’s. There were approximately six or seven families in the Bohring-Opitz syndrome Facebook  group in 2011.

When we finally made it to our outpatient appointment with the genetics division, I remember the doctor telling me to continue our research with UCLA since we’d originally started our genetic syndrome search there. I began to ask her questions about Bohring-Opitz syndrome, and as soon as I mentioned it, the physician went to her computer and pulled up a recently published medical article, “De Novo nonsense mutations in ASXL1 cause Bohring-Opitz Syndrome.” We read the publication together, and she agreed this was a possible diagnosis. It also turned out that a DNA test had just been discovered the month prior in the Netherlands. So, there was just one more thing to do… send Eva’s DNA abroad.

After five months of HMO hurdles, I decided to pay for the test out of pocket. Some people thought I was crazy since the syndrome was so rare. I was frequently asked, “What are the chances?” I would reply that there was a 99 percent chance. After several long months of waiting, Eva’s DNA tested positive for Bohring-Opitz in February 2012. The first person I called to share our news was the one and only, Michele Luce McConnell.

Bohring-Opitz (BOS) is a debilitating syndrome that has a poor prognosis due to severe feeding issues, susceptibility to frequent, unknown respiratory illnesses and obstructive sleep apnea. BOS children are developmentally delayed and have poor muscle tone. Medical journals indicate that these children have only a 50 percent chance of survival their first year. The literature, unfortunately, didn’t paint a hopeful picture. Therefore, my next goal was to learn as much as I could about this syndrome by writing the mothers abroad who had older children. Even today, these moms offer invaluable information, and we have a strong support group for our medically fragile children.

Eva’s first two years of life were extremely difficult because we nearly lived in the hospital.  There were also moments when we felt that doctors were ready to give up on her due to the syndrome’s poor prognosis.  Some doctors said hurtful things to me and questioned my ability as a mother. I learned quickly that parents of chronically ill children have to walk a tight rope when dealing with doctors.  Managing a child’s care with numerous specialists is a balancing act. When dealing with rare syndromes, there’s not any published medical information to help doctors with treatment plans.  Engaging physicians to participate in a family-centered care approach is not always easy. However, parents of children with rare diseases often have their ears closer to the ground about the syndrome from their own personal networking. 

It’s always been in those moments of despair that I somehow find tremendous energy to persevere.  I know more than ever that God has given me a special gift and that Eva’s purpose has not yet been fulfilled. Eva is now 4 years old. She’s disabled, but she’s an extremely happy, curious and playful child. She’s full of pure love. We’re also now well connected in the world of medical genetics. We share the medical treatment plans that worked for Eva with others in hope to help other BOS children. The BOS families across the world have an amazing bond. The sharing of our children through Facebook has helped others find their diagnosis. 

Eva has made my life whole, and I love sharing about her. I’m thankful for Michele Luce McConnell, the nurse who led us to Eva’s diagnosis. I don’t know if we would have Eva today if it hadn’t been for her love and dedication.

68935_869866599690590_6516201937902606043_n

Want to end the stigma around disability? Like us on Facebook.

And sign up for what we hope will be your favorite thing to read at night.

JOIN THE CONVERSATION

Related to Bohring-Opitz Syndrome

This Illustration Used To Make Me Break Down. Not Anymore.

The first letter I opened after returning home from three weeks in the hospital was from the Cystic Fibrosis Foundation, asking for the continued support of the organization. In the envelope was an illustrated picture of a little girl holding a bouquet of flowers. Sixty-five roses. “Sixty-five roses” is what children call the terminal illness [...]

When My Son Says He Wishes He Has Down Syndrome Like His Brother

There’s so much I don’t know about everything. Each year I learn a little more as I go — about life generally, about who I am, about my children, about living with Down syndrome. I can navigate pretty well through not knowing everything, but there’s something I haven’t figured out yet. When my youngest typical [...]

If I Could Go Back to the Day I Heard He Was Developmentally Delayed, I’d Remind Myself of This

He smiles. Every day. If I could go back to the day I heard, “your son is developmentally delayed; he may have autism,” I would tell myself that he smiles… every day. He’s happy. He’s so smart, and he loves. He may be delayed, but he’s progressing. I would tell myself all the positive things [...]

What Horses Taught Me About My Disability

I grew up in a stable home with loving parents. The one thing they couldn’t love away is my cerebral palsy, which mostly affects my fine motor skills, coordination, balance and movement. Failure has been a part of my life since I was a child. I had to go to therapy to learn how to skip, [...]