Elaney’s Story with Bohring-Opitz Syndrome, written by her mother when she first became acquainted with the BOS Support group 10 years ago. “Elaney’s life has been a long and winding road with many ups and downs, twists and turns.” A number of things have changed in that time, but with a view of today there is one that remains: “Now age 19, she is much the same as she has always been; forever our baby girl.”
Thank you, Gina, for sharing your story of Elaney with us today!
Elaney was born on December 2, 2001, full term, after a very uneventful, easy pregnancy. No concerns were seen at our routine ultrasound at 19 weeks. I even remember the tech saying, “no cleft here”, and thinking: well that’s good, but Elaney did have a cleft.
The doctor saw Elaney’s bilateral cleft lip and palate as soon as her head was delivered. She immediately called for the pediatrician on call, who happened to be our pediatrician. Elaney did not start breathing on her own after birth. They called a code on her and did artificial respirations on her with a bag and mask until she started breathing on her own. I don’t know how long that took. I didn’t realize what they were doing and was confused why the hospital chaplain asked me if we wanted to baptize her at that time. I must have been in shock. There were 18 people in the room at one point! I was counting people because I didn’t know what else to do. Elaney weighed 6# 0oz and was 18inches long.
Elaney was transferred to Children’s Hospital of Wisconsin soon after her birth due to “congenital anomalies”. It was a sad night in the maternity ward without our baby. The next day I was discharged and my husband and I headed to Milwaukee to see her. She had many syndromic features, including the bilateral cleft lip and palate, small jaw, flat nasal bridge, forehead hemangioma, low set ears, flexed wrists, tons of thick dark curly hair, low hairline, prominent eyes, low muscle tone, ASD (hole in her heart) and pulmonary stenosis. She stayed in neonatal intensive care for 11 days, mostly for feeding issues and evaluation of all of her defects.
Elaney’s first year of life was pretty miserable for all of us. We went to countless doctor appointments and every single time we found out more and more that was wrong with her. No one was able to put a name to her syndrome, so she just had an “undiagnosed genetic syndrome”.
We were feeding Elaney with the cleft nurser squeeze bottle until she tired of it, and then completing her feeding via nasogastric tube. It took about an hour to feed her, and we fed her every 2 hours around the clock. Just about as soon as we would finish feeding her she would throw up almost all of what she had eaten. When Elaney was about 7 weeks old we had an appointment with a speech/language pathologist for help with feeding. He immediately said we needed to do a swallow study, which revealed that Elaney was silently aspirating during feeding. She also had larygomalacia, which is floppiness at the top of the windpipe, so that every time she breathed in it kind of collapsed in on itself causing an obstruction and very noisy breathing. All of these things led to the first of her many surgeries. At 8 weeks of age she had a G-tube placed, partial repair of the larygomalacia and her first set of ear tubes.
The feeding tube actually alleviated some of our feeding struggles and allowed us all to sleep more, but Elaney continued to have severe reflux. Even with giving her a continuous drip-feeding almost around the clock she was vomiting so much she was not gaining weight. She was labeled FTT, failure to thrive.
Elaney’s second surgery was done at 4 mo old: cleft lip repair. They wanted to wait until she was 10 lbs to do this, but she just couldn’t get there. She was just over 9 lbs at 4 months old.
We continued to struggle with keeping enough food in her for her to grow and stay hydrated. Her GI doctor finally recommended that we try a Roux en Y jejunostomy, which is basically a gastric bypass surgery done in such a way that the food we were putting in her small intestine could back up into the stomach to be thrown up. That surgery was done when Elaney was 7 months old. After this she continued to gag and retch, but could not throw up her formula, so she started to very slowly gain weight.
At 9 months old, at a routine cardiology follow up for Elaney’s pulmonary stenosis, we found out that Elaney had a hole in her heart, an ASD, and also hypertrophic cardiomyopathy. She was started on a beta blocker medication for her cardiomyopathy and then slated for heart surgery a few months later. Once on the heart medicine she really started to gain weight. Apparently her heart conditions were causing her to use extra energy to compensate. She had her open heart surgery at 1 year old, and then her cleft palate surgery when she was 14 months.
In the mean time, we were doing therapies through the Birth to 3 program: OT, PT and speech/feeding, as well as vision therapy. Elaney did not track anything or respond to anything as a tiny baby. We took her to an ophthalmologist who told us that she couldn’t see, she may never see, but here is a prescription for glasses. That was a very sad day for me because up until that time (she was about 3 months old) I was thinking that we just had to fix all the things that were wrong with her, but then she could grow to have a “normal” life. During vision therapy a couple months later, she finally looked and tracked an item at about 5 months old. It turned out that she had “delayed visual maturation” and she really couldn’t see up until that time. She is extremely nearsighted, but she can see with her very thick glasses.
At some point in her first year Elaney was also diagnosed as having mild-moderate hearing loss in both ears. We tried hearing aids, but couldn’t keep them on due to her tiny little ears with glasses already resting behind them. In more recent hearing tests she has had mild hearing loss, so somehow it improved over time and we do not correct it now. She does have “delayed auditory response”, which has more to do with her brain than her ears.
Medically speaking, things calmed down after Elaney’s first 14 months of life. Before she was 3 years old we had seen 3 different geneticists, none of whom knew what syndrome Elaney had. Keep in mind that BOS was first named in 1999, just 2 years before Elaney was born. When Elaney was 3 years old we were invited to our geneticist’s office to be seen by a visiting geneticist, a dysmorphologist from Michigan. That doctor (unfortunately I don’t remember her name) walked into the room, looked at Elaney for a minute and said, “I have seen that face before” and she left the room. She came back a bit later with a journal article about Bohring-Optiz Syndrome. The pictures of the children on those pages brought me to tears. They were like looking at baby pictures of Elaney. Finally, we had a name for this madness!
Sometime after that Elaney’s case was presented to Dr. Bohring, who declined to include her in his current study because “she was doing too well”. I took that to mean that he didn’t really think she had BOS. He had not seen baby pictures of Elaney to compare to the other cases because unfortunately the digital images our genetics office had taken years prior had been lost or deleted. He did not want snapshot photos. So that was that, and we have carried on since then. Having nearly mistaken photos in the medical journal for photos of my own child, I am certain that she has Bohring-Opitz Syndrome, and so are Elaney’s geneticists. Thank you to Sunne, for finding us on Facebook somehow and for the information on the gene causing BOS. I have forwarded the information to our genetics counselor who said there is not a clinical test for that available right now, but we may be able to do this through Dr. Bohring’s research now.
In the last few years Elaney had done pretty well. She is multi-disabled and has had a couple more surgeries, including a Nissen Fundoplication for her reflux. She does not walk or talk, nor can she sit up on her own. She is still primarily tube-fed, but does enjoy eating small amounts of soft foods by mouth. She uses a wheel chair and goes to school full days. I went back to nursing school when Elaney was 18 months old and now I work 4 days per week in a pediatrics clinic. My mom is Elaney’s caregiver while I am working and she is also her aide at school.
Just before Elaney’s 5th birthday she became a big sister to baby brother Levi. He was a healthy bouncing baby boy of 9lbs and has been a joyful addition to our family. We had a level 4 ultrasound during my pregnancy with him to look for any of the birth defects that Elaney had and none were found.
Elaney is a very happy girl most of the time. She sleeps a lot and does not have a lot of endurance for activities. Just in the last year she has had two periods of 2-3 days each time of not sleeping at all. That is a new thing for her! Elaney has pretty significant scoliosis, which I guess is pretty expected for non-ambulatory children. We are planning to finally do surgery for her back this summer since the curve is now progressing quickly. Some of the other diagnoses that Elaney has are subluxed (not yet dislocated) hips, Cyclic Vomiting Syndrome, obstructive apnea, reactive airway disease, and precocious puberty.
Elaney really is a delightful girl who touches the lives of everyone who meets her. She makes lots of happy sounds and giggles a lot – sometimes at inappropriate times, but that’s ok! She is getting heavy and a little tougher to move around these days, at just about 50 lbs. She is still quite small for her age for weight and height. Something quite notable about Elaney is her tiny, tiny feet! Her shoe size is a 9 Toddler, at age 9! Her brother, who is 5 years younger than her wears bigger shoes!
I would be happy to share any more that I can about Elaney. I appreciate all of the information all of you have shared!
Fast forward 10 years! We are so grateful to have been part of the BOS Support Group since the very beginning!
So much has happened in the last 10 years with Elaney. Shortly after I first wrote Elaney’s story, we were contacted by our geneticist. They let us know that the gene mutation that causes BOS had been identified and that Dr. Axel Bohring tested Elaney’s blood sample that he had from years prior and found her to “positively” have Bohring-Opitz Syndrome. Of course we already knew this, but to have a genetic diagnosis somehow felt like a little bit of closure on that journey. Elaney’s life has been a long and winding road with many ups and downs, twists and turns. Now age 19, she is much the same as she has always been; forever our baby girl.
I am grateful to have gotten to know (virtually) some of the many BOS families. It is so heartening to know that we are not alone on this journey. It has been healing to not only receive support, information and love from the other families, but also to share some of what we have learned along the way to try to make the travels of Elaney’s BOS “siblings” a little less bumpy.
I mentioned in Elaney’s story from 10 years ago that she had a couple of episodes of insomnia. That actually turned into a 3 year struggle where she couldn’t sleep for many days in a row. It was terrible for all of us, as Elaney wanted to sleep and was so exhausted but just couldn’t settle down enough to rest. It kept the whole family awake, even our young son. When we finally found a resolution to this issue, I was not only grateful to our doctor, but also very happy to share what we learned with the other BOS families who may struggle with the same problems as we did. This support group has allowed us to share these types of supports, which makes us feel like everything we have learned through Elaney’s journey is able to ease the road for others.
Many thanks and much love to Sunne and Sheri for starting and fostering this BOS family all along the way.