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Entry #7:  The Neurologist

“It was a dark and stormy night…,” my English teacher, Mrs. Lindo, told the 14 year-old Anna-Lisa Fay. This was supposed to be a starter sentence for a dramatic tale showing as much imagery, personification and metaphor. There was one problem;  everyone else was beginning their story this way.  I had a different story to tell—evidently.  I knew my life would not follow a typical path and deciding to listen to my intuition was and still is a characteristic I try not to ignore.  If only I had listened to my inner voice from the years 1996-99. 😉

So, following the tradition of being atypical,  I put on my rose-colored glasses and big girl pants, to make “the call.”   Instead of Bonnie’s pediatrician telling me what to do, I felt it was time to find out what was really going on with my child.  Her doctor referred me to a local neurologist.  When we met, I was warned of his strange demeanor, distant personality and curt tone.  That said, we were reassured that if he couldn’t find out what was wrong, he would lead us to some specialists who could. So, as any good external optimist would do, Scott, Bonnie and I opened the office door to a lovely receptionist greeting.  Once escorted into the exam room,  the neurologist said a brief hello in the room and then examined Bonnie.  He looked at Bonnie, smiled, yes a smile.  (Bonnie does have that effect on people) and began the exam.   He measured her head circumference, the distance of her eyes, then to nose, and mouth.  Her lips, we were told, were thin, well at least the top one.  Her forehead was abnormally high and upon closer examination had non-existent eyebrows.  He said, “there’s something here.”  Pointing to her head, but I just don’t know what it is.” 

Is it autism? I asked. No, she makes excellent eye contact and is engaged with every word, gesture and emotion.  In fact, that was a common thread among physicians—no autism, even though she is non-verbal.  Was it brain damage during my extremely difficult labor and birth—40 hours to be exact.  He couldn’t answer that without an MRI.  What was it?  He could’ve speculated all day long, but chose to refer us to Dr. John Graham at Cedars-Sinai Los Angeles.  If he can’t tell you what this is (suspecting it’s a chromosome syndrome) then no one can.  He’s the leading expert in pediatric genetic craniofacial disorders.  We left with MRI appointment card in hand and a hole in my heart.  

Entry #6:  Redefining Support

“Only when all who surround you are different, will you truly belong.”  This line has been quoted in movies and in fortune cookies.  I always felt that when people were faced with seemingly insurmountable challenges, we lean on those who can relate to us the best.  Ironically enough, sometimes the people who helped us the most had never experienced or walked our path.  They were different from us and that was okay.  Even better than ok, it’s critical.  How will we grow as human beings if we constantly surround ourselves with people we already know and never reach outside our comfort zone?  The definition of growth is the act or process of development and advancement.  Bonnie gave us a gift to grow as her parents, as people and as a small contribution to this world.

As the days, weeks, months progressed,  we held on to her therapists: speech, OT, PT.  We surrounded ourselves with various medical specialists and counselors.  We sought solace and information from anyone who could get us closer to a diagnosis.  Most, if not, all of these people couldn’t relate to our situation at all.  They didn’t have a child with a rare syndrome, or hearing loss or limited mobility issues, nor were they non-verbal.  But, what they did offer us was understanding, hope, determination, resources and support.  Providing us with as much information as they could share and help us help Bonnie at her ability level.  That’s the tricky thing about not knowing or having a diagnosis.  How much is too much assistance or not enough?  We are constantly asking ourselves this question which contributes to a whole other level of stress.  When I think about how to best support our daughter, Scott and I always agreed that it is who you surround yourself with, that makes the world of a difference.  

Entry #5:  Holding On

“Something is wrong. Bonnie isn’t doing what other one-year olds are doing.” I hear a plane above zooming its engines in the distance and silence. Then, I stand up, walk towards the hallway and all I could hear was my voice saying…what? “Yes, I think there is a problem beyond her hearing loss. She isn’t sitting on her own, crawling, pulling up to stand or rolling over.” I am recommending that the regional center psychologist come in for an evaluation.”

Thump. My head hit the floor. My heart stopped. My world collapsed.

Simultaneously, Scott replied to the OT  “but she can turn pages in a book?”  True, we did tummy time every day and it never worked.  Well, maybe she won’t crawl or pull up.  She will just leap to walking.  The more she didn’t meet her goals—the more we held on to her turning pages in a book which she had been doing for a long time.  We held on to whatever we could—relying on older folks telling us that their child crawled, walked, spoke late.  We held on to the belief that everything would work out.  She was unique and an original.  We held on to each other through the tears, but also through strength and defying the odds.  We held on.

Entry #4:  Early Start

Although we received the confirmation that Bonnie had sensorineural hearing loss in both ears, the derivation of this diagnosis was unclear to many doctors.  It was not an accident, illness or injury.   I did have a very traumatic labor/delivery but in the end her APGAR scores were high.  No NICU needed.  So, the logical conclusion was that it was genetic. But what does that mean?  

At first, Bonnie seemed like a typical baby.  Aside from being the cutest baby that ever lived, she giggled, cooed, snacked, fed, cried and cuddled.  Her daddy and I adored her. 

Because Bonnie had hearing loss, we were automatically enrolled in a program called “Early Start”.  I resisted the services at first and said that there was some sort of mistake again.  My child isn’t deaf.  Not that there is anything wrong with this, but she has a slight hearing loss but I’m sure it’s nothing.   She will hear and everything will be fine.  We won’t need your services, thank you.

According to the Department of Developmental services:  “The Early Start Program is California’s response to federal legislation ensuring that early intervention services to infants and toddlers with disabilities and their families are provided in a coordinated, family-centered system of services that are available statewide.  Infants and toddlers from birth to age 36 months may be eligible for early intervention services through Early Start.  Based on the child’s assessed developmental needs and the families concerns and priorities as determined by each child’s Individualized Family Service Plan (IFSP) team, early intervention services may include:

•assistive technology

•audiology

•family training, counseling, and home visits

•health services

•medical services for diagnostic/evaluation purposes only

•nursing services

•nutrition services

•occupational therapy

•physical therapy

•psychological services

•service coordination (case management)

•social work services

•special instruction

•speech and language services

•transportation and related costs

•vision services

As articulated above, she ultimately needed the services.  Many evaluations from different professionals proved she could use the help.  What I didn’t know at the time was that it didn’t end with hearing evaluations.  When Bonnie was a year old, her Occupational Therapist announced something.  “I need to talk to you Anna-Lisa and Scott.”  I remember thinking to myself, oh what does she need to tell us—she’s quitting, services are over.  What was it? Nothing could have prepared me for what she was about to say.

“Something is wrong.  Bonnie isn’t doing what other one-year olds are doing.”  I hear a plane above zooming its engines in the distance and silence.  Then, I stand up, walk towards the hallway and all I could hear was my voice saying…what?  “Yes, I think there is a problem beyond her hearing loss.  She isn’t sitting on her own, crawling, pulling up to stand or rolling over.”  I am recommending that the regional center psychologist come in for an evaluation.

Thump.  My head hit the floor.  My heart stopped.  My world collapsed.

  Entry #3:  The Hearing Test

Denial.  Such a small word with a complex meaning.  So is the word, Hero.

It’s not that I wouldn’t acknowledge there was a problem.  It’s that in my mind, there wasn’t enough evidence to show me there was.  What’s one or two tests?  Doctors have been wrong before.  There was no history of deaf or hard of hearing individuals on either side of our families.  It just didn’t add up.  For the next several months,  we went to every conceivable doctor in Southern California, who specialized in hearing loss.  House Ear Institute, John Tracy Center, local audiologists and UCLA.  We had to keep testing and re-testing for many months and years to finally say—yes she has hearing loss.  

According to UCLA, she has high frequency hearing loss in both ears (2500- 3000 MHz right ear, 3000-4000 MHz left ear)  At this point, (although this has been debated) there is no need for hearing aids.  She needs to be addressed facing the person, loud places can be challenging as is the sensory overload and she cannot hear high frequency consonants such as “f” “s”.  Although, my husband and I debate whether or not she can hear, certain preferred items seem to get an immediate response.  Hmm…Do you think we should let her watch “Sesame Street” after dinner?  A small hand touches my shoulder and a remarkable, excitable shriek hits my ear.  Ah, the wonders of the human brain. 

Entry #2: A Bump in the Road

On day 5 of my hospital stay, Bonnie and I were released in to the wild.  Bonnie’s daddy pulled the car around and we tried to put Bonnie in her pristine carseat.   The operative word is tried. The car seat engulfed her and her head too floppy.  Scott acted quickly and placed blankets around her to stabilize her head for the careful ride home.  Every bump in the road made me wince.  Foreshadowing. 

A few days later with disbelief casting a shadow of doubt, she didn’t pass her hearing test at the local audiologist.  Of course we would do another hearing exam and clear this misunderstanding.  She was born three weeks early; so this had to be the explanation.  The audiologist recommended hearing aids right away.  I emphatically said NO!  I need a second, maybe third—ok fourth opinion.  We left the doctor’s office and before the office door shut, I felt a stream of tears running down my cheeks.  My world was pulling further and farther away from any first time mom expectations.  After some discussion about the results, I aggressively wiped the tears away with my sleeve.  The test results were wrong.  There was no other explanation.  

In the hope of finding another solution, I immediately called my dad.  He comforted me as best as he could.   Still grieving from the loss of my mom, he tried.  He really tried.  I needed my mom’s voice.  The closest and second choice was my older sister.  She was and is a mom of two beautiful little girls.  She would tell me  all would be fine.  Just like the nurse said.  The reality is, she didn’t know either.  Lending a sympathetic ear was crucial, but I wanted her to tell me the doctor was wrong in the hospital and so was the audiologist.  Denial is a powerful drug.  

Thanks for joining me!   Here you will find our families journey towards answers resulting in our daughter, Bonnie Bridget Odgers current diagnosis of HIST1HE syndrome.  As of 2018, we currently know about twelve individuals with this syndrome, including our daughter Bonnie. We will provide the latest updates on research, personal anecdotes and community outreach. Feel free to share any new information about this rare syndrome and encourage you to share this web site with other rare genetic disorders. Thank you for reading our story.  Scott, Anna-Lisa and Bonnie Odgers

Good company in a journey makes the way seem shorter. — Izaak Walton

Entry #1:  Her Story, My Words

Hurt. Frustration. Confusion. Joy. Courage. Love.
Six years ago, September 2010, we welcomed our tiny daughter, Bonnie Bridget Odgers. 5lbs, 9oz. She was perfect. Perfectly unique.
It was an incredibly long day and as I was taking a moment to lie on the couch and watch “Master Chef”, a sudden feeling in my belly came over me. I thought it was internal gas and I turned to my husband, “I just had the weirdest sensation. I feel like the baby farted or I did?” He turned to me and said, “let’s look it up.” It seemed kinda funny at the time.

As he approached the computer, I simultaneously stood up and immediately knew something was wrong. I was bleeding and cramping. I felt wetness, fear, concern and shock.  I’m not supposed to go into labor for a few more weeks. I just had an exam today and the doctor told me so. I panicked. “Am I going to lose the baby? Why is this happening to me? What’s wrong?  My husband looked up the possibilities. It could have been lots of problems: preeclampsia, early labor, internal bleeding. I couldn’t wait dammit! I wasn’t gonna wait to hear from the doctor and certainly wasn’t going to wait to “look this up”. With my mind already out the door and on the freeway, I yelled, “I NEED TO GO TO THE ER NOW!!!” Like any couple, we had to make fast decisions but they couldn’t come fast enough. Pain was flooding my lower extremities and I rushed back to the couch. My husband called the on-call doctor and left a message.

Within five minutes, the doctor called us back to say we better check Anna-Lisa out. It doesn’t sound like there is anything to be alarmed about, but just in case—bring her into the ER. If everything checks out, you will be released.
Quickly, we pack a bag which includes the bare essentials: toothbrush, toothpaste, socks, maternity underwear, sweats/sweatshirt, Ugg boots and the all important receiving blanket. I could barely think as I now had massive cramping which resulted in a hunch-back of Notre Dame walk. With cell phones charged, we leave our place at 10:20pm for Cottage Hospital in Santa Barbara, CA.

Every bump in the road (literally) hits me as if a prized fighter took another cheap shot. Breathing is labored and my anxiety increases. At 10:45pm we arrive at the ER. I tell the front desk what’s happening and they immediately grab a wheelchair. Within seconds, I am whisked away to the exam room with husband, Scott, in tow. Thankfully, he was by my side, holding my hand, telling me everything was going to be ok. (even if he didn’t know that to be true).
The emergency room doctor tells me to carefully get on the exam room bed so he can see what’s happening. Within a minute, he says, “Well, your water broke and you are in labor.” What? I said. That cannot be true! I just had my 37 week pre-natal exam and he said I was weeks away from delivering.”
“Well, all I can tell you is that you are now going to be admitted as you are in labor.”
Naturally, I was confused, but there was nothing I could do about this situation. Hoping the baby would be protected from any of this chaos going on in my head—I relented and was rolled into the maternity ward several floors up. This is not how I envisioned the labor process. I thought that I would have another couple weeks to prepare both mentally and physically for this joyous event. Just like life, you never can fully predict what’s in the future.

After many hours of horrific pain, sweating and exhaustion,  I  finally gave birth via unplanned C-section 40 plus hours later on September 9, 2010 at 4:05 pm.

It’s a GIRL! I was barely awake as my whole body was numb from the neck down. My husband brought this beautiful, tiny creature over and told me to turn my head. “It’s your daughter, honey. She’s beautiful—great job mommy!” Scott brought her back to the nurses for further tests and I was moved into the recovery room.
Bonnie and I spent four days in the hospital. Early. Exhausted. Exhilarated. Expensive? Broken thoughts circle my head, then some news.

A doctor (not mine) enters my recovery room. He introduces himself with a curt tone. “Mrs. Odgers?” Yes. I have been doing some tests on Bonnie before we release you. Yes. Your daughter failed her hearing test. It’s my belief that your daughter is hard of hearing, maybe even, deaf.

After that, I couldn’t hear him over my tears and audible cries. He dropped this bomb in front of me, then called for the nearest nurse to pick up the shrapnel. He left as quickly as he came in. Could I have imagined this? Was I in a waking nightmare? As if my traumatic labor lasting 40 hours wasn’t enough— I was devastated. Not only did my mom die suddenly just a few month before, but I had no family or friends surrounding me. Left alone with my wandering thoughts, my eyes swollen, red, blind.

The nurse rushed in, held me tight, wiped my never ending tears with an abrasive, hospital grade Kleenex. Rudolph the red-nosed reindeer would have been envious of my nose.

How could this be? I don’t understand? The worst was over I thought. The nurse just kept telling me not to listen to him, that many babies fail the hearing and are just fine with more testing outside the hospital. “You just make an appointment with an audiologist and you’ll see… She’ll be just fine.” It will all be fine.