Our daughter Rebecca was born with a tiny cleft lip, a mucosal tag, wide set eyes, a sacral dimple, and a basal encephalocele. The basal encephalocele, a very rare neural tube defect, went undetected until one week before her 5th birthday. In 2004, an unrelated symptom led to a brain scan, which revealed the existence of a basal encephalocele. Through Rebecca’s story, I painfully learned the lesson that things aren’t always as they appear. I also learned never to assume anything.
In the Beginning……….
Rebecca was born on June 12, 1999, ten days before her due date. My pregnancy was uneventful and labor was much easier the second time around. She arrived so fast, that my OB barely had time to change into her scrubs!
Delivery was easy and the surprise of having a girl was quite a pleasant one. The doctor cleaned her up and handed her to me. I held on tight and stared into the beautiful face of my sweet little girl as the doctor continued working on me. I reluctantly handed her over to my husband. As he was admiring her pretty little face he said, “Michele, did you notice that her lip looks funny? And what is that thing hanging down, in the middle of her gums?”
Hard to imagine now, but I had not noticed. I must have been blinded by love. It only took a moment after hearing his words, for that love and joy to be replaced with panic and fear. I will never forget the feeling of that paralyzing fear.
Soon, the pediatrician came in and explained that our daughter had a very small cleft lip and the little “thing” hanging down from the ridge of her mouth was called a “mucosal tag.” He reassured us that it was only a very small cleft lip- not a cleft palate and could easily be repaired. We had never met this doctor before. He was on call from our pediatrician’s practice. He presented her cleft lip as “no big deal,” so that’s how we felt about it. She seemed to be suckling fine so our fear and panic were put to rest, at least for a little while.
Our regular pediatrician confirmed Rebecca’s isolated cleft lip and the existence of the mucosal tag. She referred us to the Craniofacial Department at the Children’s Hospital in our area.
Our appointment with the craniofacial surgeon was reassuring. He informed us that the mucosal tag and her cleft lip could easily be repaired and to expect only a minimal scar. He then examined her entire body and discovered that she had a dimple in her lower portion of her spine which he referred to as a sacral dimple. He explained that the presence of a sacral dimple could indicate Spina Bifida so he called in a neurosurgeon to have a quick look, before we left.
The neurosurgeon walked in, said hello, then proceeded to stick his finger into the dimple. He explained that he was checking to see if he could feel her spine. (He called it an end point) Since he could not feel the end, he suggested that she have an MRI of this specific area of her spine. Rebecca’s cleft lip quickly took a back seat to the possibility of Spina Bifida. Fear again began to penetrate through my body.
We soon received the MRI results and the good news: Rebecca did not have Spina Bifida despite their inability to feel an end point in her sacral dimple.
At 4 months, Rebecca had her cleft lip repaired and mucosal tag removed. It was an outpatient procedure and uneventful. She recovered well. Rebecca had a sweet disposition, was an agreeable baby and started sleeping through the night very early on. We began calling her “our little angel.”
Something Is Not Quite Right……………
As she grew, I noticed that she was slower to move around compared to our son, who walked at 7 months. I began to get the “feeling” that something was not quite right but I just couldn’t put my finger on it. I also began to notice that one of her eyes seemed to “wander”. Others in my family couldn’t see the wandering eye and told me I was worrying for nothing. My husband was, however, able to see the strange line, I noticed, that ran down the middle of Rebecca’s nose.
Rebecca got her first cold early, had recurrent ear infections and had a chronic clear colored drip out her nose from about 6 months old. The drip from her nose lasted a few hours each morning then disappeared by lunchtime.
I scheduled an appointment with Rebecca’s pediatrician, after sharing my concerns with a different pediatrician, who was a close friend of mine from high school. She suggested that Rebecca have a complete battery of tests, which included an MRI of her head. She discussed possible syndromes associated with cleft lips and gave me a list of tests to ask my current pediatrician to consider.
It was somewhat of a struggle, but my pediatrician agreed to the following: a hearing test, a referral to a pediatric ophthalmologist, and a visit to a geneticist. She reassured me that second children often get back to back colds and the runny nose was most likely that. She calmed my fears about her slower development by saying that sometimes girls are slower to move than boys. She couldn’t explain the line down her nose so she just shrugged her shoulders and smiled. She did not agree to the MRI because she felt Rebecca was developing normally. She gave me the paper referrals that I needed, to schedule the tests. They all stated “mid-line facial defect” as the reason for referral. I was relieved that our pediatrician believed Rebecca was developing normally. I just didn’t know what “mid-line facial defect” meant. I assumed it was for insurance purposes only.
The ophthalmologist confirmed my suspicions that Rebecca’s eyes wandered a little and told me that Rebecca had an abnormal increased distance between her eyes called hypertelorism. She suggested we return in 6 months to check on her eye muscles. Rebecca’s hearing test returned a normal result.
The geneticist we visited took a history, measured Rebecca’s head, drew a blood sample, then told us our little girl had an isolated cleft. He said her measurements were normal and her wide-set eyes measured in the 95 percentile range of normal. He suggested that I take folic acid if I was planning on having more children.
Everyone breathed a sigh of relief, except me. My intuition told me, something was still not right. I watched my daughter like a hawk. Every morning, I wiped Rebecca’s nose and everyday I watched her eyes wander a little more and I stared at that strange line down the middle of her nose. I still felt that something was not right. About once every six months or so, I’d have a “mini-panic attack” that something horrible was going to happen to Rebecca. I’d have these little moments which came at unexpected times. I would calm myself quickly, with the knowledge that all her tests results came back fine. I told only my closest friend about my little bouts of panic. She reminded me to trust my intuition and always reassured me that I wasn’t losing my mind-especially since I had never had this feeling with my son, our first born.
Rebecca finally began walking at 15 months (the slower end of normal) I took her to her doctor what seemed like monthly for chronic recurrent ear infections and her always present, morning runny nose. She would get antibiotics, and I’d get reassured that now, at almost 3, her runny nose was either allergies or back to back colds. Anti-biotics became a regular part of her daily routine.
A few More Surgeries and a few Answers……..
When Rebecca was 3, we moved so we were able to switch pediatricians to join my high school friend’s practice. I knew that she would take me seriously, since she was the one who suggested the testing in the first place.
Rebecca’s eye muscles did indeed need surgical repair so at age three she had eye muscle surgery. Her surgery went well but she did get ill from the anesthesia. We spent the entire day at the hospital watching other families come and go.
She had her first set of ear tubes put in, via surgery, later that year. When they fell out before 6 months her ENT, suggested an x-ray of her adenoids to confirm that her adenoidal measurements were normal. Her x-ray came back fine so she had another set of ear tubes put in, during another surgery.
Rebecca continued to exhibit signs of slight lower extremity weakness. She fell more than her friends, but seemed to know her own limits, so didn’t attempt to do the things her friends were doing. In addition, she began to tell me that her feet were falling asleep - a lot. I brought my concerns to our pediatrician who referred us to an orthopedist and for physical therapy.
The orthopedist x-rayed her legs, watched her run down the hall a few times and suggested that we enjoy our sweet little girl, because her leg bones looked perfect. The physical therapists discovered that she was a bit weak in her lower extremities and noted some balance and coordination issues. They were puzzled by her sleeping feet and suggested she chart how often it occurred and that I should notice trends.
It became apparent that the only trend I noticed was that there were no identifiable trends; her feet just kept falling asleep in all different situations. Her pediatrician then suggested we see a neurosurgeon at Children’s Memorial Hospital in Chicago to re-evaluate her sacral dimple and spinal cord.
Our neurosurgeon was a woman, which I learned is quite extraordinary in the field of pediatric neurosurgery. I liked her from the moment we met. She examined Rebecca and asked in-depth questions about her development. She, as all our other doctors did, fell in love with our sweet little girl. She suggested that we schedule an MRI of her entire spine to rule out spinal cord abnormalities. Then, she stopped us as we were walking out the door and asked if Rebecca had ever had an MRI of her brain. As I uttered “no, never” I knew in my heart, we would find our answer to her little sleeping feet, in her brain. When I shared my thoughts with my family, they all began to think I was completely losing my mind. My gut told me differently.
Rebecca’s Hidden Birth Defect……….
Unfortunately, I was right. Her spinal MRI was normal but her brain MRI was not. Our neurosurgeon gave us the painful details that Rebecca had a basal encephalocele inside her head. We couldn’t even pronounce it, let alone understand it. Our doctor gently explained to us that during fetal development, Rebecca’s skull did not fully close, and as a result, part of her brain had actually slipped through the gap and was now outside of her skull. She compassionately explained the rarity of this condition (which is almost never seen in 5 year olds) and handed me a tissue as I began to cry. It then got even worse… She continued by saying that her pituitary gland, optic chiasm and optic nerves were all “involved”. She showed us the MRI pictures pinpointing exactly how our daughter’s brain had made adjustments to re-route the defect. In shock my husband and I stared at the picture of Rebecca’s brain on the computer screen, trying to comprehend the enormity of it all.
I quickly learned that encephaloceles occur in about 1 in 40,000 births. It is the rarest form of neural tube defects and basal encephaloceles are the rarest form of encephaloceles. Our surgeon explained it even simpler: Of the 4.1 million births in the United States, only a few dozen are born with basal encephaloceles. Usually, encephaloceles are discovered either in utero or immediately after birth and many of the children who actually live have some sort of disabling condition as a result. Miraculously, our little angel survived to age 5 with this secret defect in her brain.
Our summer of 2004 quickly turned into one filled with too many trips to the hospital, too many MRI’s and CT scans, too much anesthesia , too many IV’s, blood tests and not enough trips to the pool. They needed more information to better understand exactly what was going on “in there.” Then, finally the doctors began to really hear me as I told them about Rebecca’s morning runny nose.
Our new ENT surgeon asked detailed questions about her runny nose and explained to me that it might be cerebral spinal fluid (CSF). He thought it unlikely since she had never had a bout of meningitis. He explained that the biggest risk of having a CSF leak is contracting meningitis due to the direct access to the brain from the leak. Since Rebecca had never had a bout of meningitis it seemed unlikely to everyone - but me.
A myleogram (a spinal infusion test for CSF leaks) confirmed that CSF was, in fact, leaking from Rebecca’s brain, and out of her nose, for YES… ALL these years. I asked how it was possible that she had this leak without ever getting even one case of meningitis. The doctors shrugged their shoulders then gave us this answer: “sometimes our bodies know more than we do.” And then they added, “It does seem quite miraculous.”
Brain surgery was Rebecca’s only option and was confirmed by all the pediatric neurosurgeons at Children’s Memorial Hospital and throughout the pediatric neurosurgeon community. A neurosurgeon from Washington DC’s Children’s National Medical Center donated his time to assist our neurosurgeon with Rebecca’s surgery.
Our doctors told us that her surgery was not going to be easy and would involve even greater risks than just the regular risks associated with brain surgery. In Rebecca’s case, the encephalocele was located directly behind her eyes and her pituitary and optic chiasm and nerves had all gotten dragged into the gap in her skull. Surgery put her at risk for visual disturbances, pituitary gland damage and almost surely a loss of her sense of smell. Her doctors practiced on a cadaver due to the difficult location of the encephalocele.
On October 6, 2004, after 5 months of pre-surgical testing and planning, Rebecca’s surgery day arrived. Her surgical team spent almost 13 hours performing meticulous neurosurgery on our daughter’s brain. The outcome of her surgery was the best we could have hoped for. Once inside, the doctors learned that her basal encephalocele was bigger then they had thought and the encephalocele was stuck to the roof of her mouth. They couldn’t move it back inside her skull and close her skull because it would have created more damage to her functioning brain so they carefully lifted it from the roof of her mouth, and built a bony shelf, outside her skull, where it now rests. Her pituitary gland was unscathed and her vision remained intact. They repaired the CSF leak and through a difficult procedure saved Rebecca’s sense of smell. To add to the beauty of this wonderful outcome, our superhero-neurosurgeon performed Rebecca’s entire 13 hour operation while being eight months pregnant!
Due to the rarity of Rebecca’s diagnosis, we live with many unanswerable questions. I call this uncertainty and acceptance of the unknown our “new normal” And, for the record, I no longer have those “mini panic attacks”.
On August 15, 2005 the Associated Press ran a story on encephaloceles and used our little Rebecca as the success story of the dramatic surgery that was performed.
We have a Care Page dedicated to her encephalocele surgery, recovery and the future. It can be found at www.carepages.org . The title of her care page is Rebecca5.
Although Rebecca’s story is very rare, the feelings that we share as parents of children with special needs are very similar. Through Rebecca, I have learned so much about grief, fear, acceptance, trust, hope, and faith. I discovered how to advocate for my children and be patient at the same time. I also learned to trust my own instincts.
While neural tube defects aren’t always associated with cleft lips and/or palates we found out the hard way, they can be. In Rebecca’s case, the most serious of her mid-line defects, the encephalocele was invisible. The collection of traits and symptoms she was born with certainly gave us clues about what lurked inside her head. It just took us all a while to find it. As parents, we are our children’s best advocates and a collection of traits/symptoms can suggest other syndromes to consider. When in doubt ask your doctor and if still in doubt, ask another one. There are some very special doctors out there. Lucky for our family we found some.
Please feel free to contact me with any questions about our situation. I’d be honored to help you through your journey, in any way I can.