Our 21-month old baby girl, Eva Bermejo, is a frequent visitor to Children’s Hospital Los Angeles. When we first came to the hospital in June 2011, she was six months old, had severe feeding issues, was failing to thrive, had been experiencing numerous unknown respiratory infections and she was not breathing well. We had previously been in and out of other Southern California hospitals, and we had seen several pediatricians and specialists to try to find treatment and a diagnosis for our daughter. Some pediatricians felt that Eva was just fine and others agreed further testing was needed.
Eva was born one month premature. 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, long fingers that were tightly clenched in a fist, beautiful blue eyes and a gorgeous full head of hair. Due to mild husky breathing at birth 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 with Eva, other than just husky breathing. The next day I tried to nurse her in the NICU, but upon attempting we noticed that Eva had a high arched palate and a weak suck. We then resorted to feeding by bottle, but Eva would vomit every time we fed her.
On Eva’s third day of life the doctors discovered that she had an intestinal obstruction, which was caused by an annular pancreas. Eva’s pancreas had grown around her duodenum, which was strangling the intestine and preventing digestion. Eva was then transported to a larger hospital with a bigger NICU and a pediatric surgical staff. While Eva recovered in the NICU, the doctors recommended further genetic testing due to the very rare annular pancreas and other physical anomalies that Eva presented. Those anomalies included clenched hands and mild dysmorphic facial features (flattened nasal bridge, small mouth, small jaw, low set ears, mild bulging eyes, and a high arched palate). Upon discharge we were told Eva could have some rare medical issue and were reassured that it was most likely not going to be significant since her chromosome karyotype test was normal.
My husband and I brought Eva home on Friday, Dec. 30, 2010. We were excited for the New Year, and most importantly we were thrilled that our little girl was finally home. I was given the okay to breast feed on demand, and I was going to do everything in my ability to keep our precious girl healthy. However, the first few days at home were very rough. Eva still could not latch and breastfeed. I would work with her for hours, but she wasn’t getting the milk. I also noticed she had several tight frenula in her mouth, as well as very tight muscles in her cheeks. Her breathing also seemed very noisy. The breastfeeding dilemma was very unusual to me. I had nursed my first child for over a year, so I did not expect nursing a second baby to be so difficult. It concerned me greatly. We ended up using the bottle to feed her to make sure she received nutrition, and I kept moving forward knowing that we would have a well baby check-up to address our concerns in three days.
When we got to our well baby check-up, I explained to the pediatrician that I felt Eva had feeding troubles and that I believed she was catching a cold. I explained that she had noisy breathing. However, the doctor told me that the noisy breathing was due to her high arched palate. I also told him that I wanted to get a referral to see a geneticist. He reassured me that Eva was fine and told me to just focus on getting Eva to grow for the time being. Needless to say, I left feeling very empty handed and had fears about the health of my baby. We took Eva home and watched her very closely. Eva’s breathing became very labored and we ended up in our local emergency room two days later. Eva had RSV Bronchiolitis and ended up in the pediatric intensive care unit (PICU) for several weeks.
We were hoping that 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. It wasn’t until we had the major choking incident that the pediatrician finally assisted us with 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 was also not developing. She had poor muscle tone and could not even hold her head up. The ENT diagnosed Eva with mild laryngomalacia. Eva also had another chromosome test at UCLA, which was again negative. We were seeing specialists, but something was still not right. We were not learning enough about Eva’s condition to be able to help her thrive and grow.
After several conversations with UCLA Genetics Division, we were told that they suspected that Eva had a very rare syndrome called Opitz C Syndrome. However, when I read about the clinical characteristics of the syndrome, I did not believe the potential diagnosis fit our daughter’s symptoms. There was also not a DNA test available to confirm the indicated syndrome. It was at this point that I decided we needed a second opinion. Therefore, instead of battling with our pediatrician for more referrals, we had our Children’s Hospital Los Angeles gastroenterologist help request a referral to see specialists at Children’s Hospital Los Angeles. Due to the fact we had an HMO, I realized I would need to be patient for pending authorizations. I was willing to wait.
I will never forget the day we first came to Children’s Hospital Los Angeles. I was supposed to return to work after being on extended maternity leave to care for Eva, but she was still sick. My heart was broken, because I knew she still had many medical issues. The week prior I had taken Eva to see a pediatrician and begged him for a referral to see a pulmonologist because Eva’s breathing was not well. However, he kept reassuring me that her breathing pattern while she was asleep was due to the larygnomalacia. The night before I went back to work my mom spent the night at my house so that I could get a good night’s sleep. Just before I headed out the door in the morning, my mom told me that Eva’s breathing while asleep was poor. I knew we had to take her back to our local emergency room. However, in fear of losing my job, I decided to go into work just to let them know I needed more time off. While I was there, I received a miraculous phone call. The Children’s Hospital Los Angeles Genetics Cranial Facial team called me to schedule the second opinion appointment that we had been waiting for anxiously. After explaining that I would not be able to take Eva in due to our need to take her back to our local hospital emergency room for evaluation, they made immediate arrangements for us to bring her to their clinic that same day. I left work, packed bags quickly, and we were off to Children’s Hospital Los Angeles. We met Sally Ward, MD, 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 that she was aspirating while feeding. An excellent dietician, Natalie Eatadali, immediately discovered that we had received incorrect formula mixing instructions from the GI doctor and that Eva was not getting enough calories. I always suspected there could have been a formula recipe error. I had our local hospital double check the recipe and they told me it seemed fine. I had also called Enfamil, but they would not give me mixing instructions for a higher calorie formula diet since I was not a doctor or a dietician. When Eva began failing to thrive, I even called the GI clinic to confirm the mixing instructions. Yet, the nurse there told me that if the recipe instructions were written on a prescription form they had to be correct.
Learning about Eva’s obstructive sleep apnea and need for oxygen, her need for a gastronomy tube (G-tube) due to the fact that she was aspirating while feeding and that she was not growing due to a formula error 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. This became even clearer to me since doctors confirmed she had an undiagnosed syndrome, which was probably very rare. I realized if I did not do my part by asking questions and learning as much as I could about Eva’s health, I would not be able to help her or the doctors. We were told that many rare syndromes take years to diagnose, and some are never diagnosed.
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 at Children’s Hospital Los Angeles we met many excellent nurses on 5-East. 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 to research syndromes, 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 really insisted I take a look at these pages. 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 five 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 very rare syndrome called Bohring-Opitz (C-like Syndrome). The syndrome was so rare, that there are only approximately 30 diagnosed children in the world. As rare as this syndrome was, I knew Eva had Bohring-Opitz. 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.
As soon as we got Eva home, I decided to contact the mothers of these children. 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.
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 had originally started our genetic syndrome search there. I began to ask her questions about Bohring-Opitz Syndrome, and as soon as I mentioned Bohring-Opitz to the physician, she went to her computer and pulled up a recently published medical article on the syndrome, De Novo nonsense mutations in ASXL1 cause Bohring-Opitz Syndrome. We read the publication together, and she agreed that this was a very 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, specifically trying to get an HMO referral to be processed for a lab test abroad, 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% 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 very 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% chance of survival their first year. The literature, unfortunately, did not 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 still continues to be hospitalized very often due to feeding intolerance and frequent infections. Eva is now fed with a gastrostomy-jejunostomy tube (G-J tube) and receives parental nutrition. However, she is our little angel. She has taught me more about life than I could have learned in my 36 years. Eva has a tremendous amount of motivation. Some people would consider a special needs baby not normal, but we don’t. Our family embraces Eva, and despite her medical issues she is normal to us and we love her dearly. I am fortunate to have Eva. She has brought many special people into our lives.
Even though Eva’s condition is rare, I still wanted to see if we could find another family in California with a BOS child. The chances were slim, but that did not stop me from calling Dr. John Opitz one June, Monday morning. This world renowned geneticist returned my phone call within ten minutes. He offered very insightful information to me about the syndrome, gave me hope and referred to me to a geneticist who recently diagnosed a patient with the same syndrome. Sept. 7, 2012, was a very special day for us, as we met another family with a Bohring-Opitz child. This was probably the first time any two BOS children met in California.
You are more than welcome to read more about Eva: