Shivani Nazareth of Counsyl on Why Carrier Screening is Critical for Couples

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When our OB recommended an expanded carrier screening in the early weeks of my first pregnancy it was an annoying inconvenience. Today, I see it as the most important test of my life. Ten weeks into my first pregnancy, my husband and I learned that we were carriers of a non-syndromic hearing loss gene (GJB2). By the time my daughter was born and failed the newborn hearing screen we were of course devastated, but we were also prepared. Having genetic results gave us the confidence to get hearing aids for our daughter at one month of age, despite recommendations from established ENTs who suggested we hold off another month or two. It gave us the information necessary to advocate for our daughter her first week of life and because of this, we secured a cochlear implant surgery at just seven months of age. At three years old, our daughter is speaking and hearing on par or ahead of her hearing peers. Her successful outcome in our opinion is a direct result of us having had the expanded carrier screen. It gave us critical information earlier so that our daughter could hear earlier.

On that note, I recently had the pleasure to connect with Shivani Nazareth, MS CGC, Director of Medical Affairs at Counsyl, a DNA testing and genetic counseling service. For more than 15 years, Shivani has worked with thousands of couples to help them understand how genetic screening can help them make informed decisions when building a family.

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Can you talk a bit about what carrier screening entails for couples who are pregnant?

Sure! To clarify, it is ideal that carrier screening be performed before conception, rather than during pregnancy, as timing makes a huge difference in allowing couples to utilize the information to their benefit. It is performed on a sample of blood or saliva, from which DNA is analyzed to determine if an individual is a “carrier” of a genetic disease. Carriers are healthy people with an alteration, also known as a mutation, in their DNA. The test includes a wide range of conditions, from hearing loss to chronic or life-threatening illnesses. If a pregnant woman is found to be a carrier, the next step is usually to test her partner’s DNA. This is because both mom and dad would have to be carriers of the same gene (with few exceptions) in order to conceive a baby with the condition. While this may initially seem like unwanted information, the purpose of carrier screening is to identify potential health issues as early as possible, thereby giving couples time to research all options and improve the likelihood of having a healthy child.

What are the main misconceptions that prevent couples from doing carrier screening?

Lack of family history seems to be the most common misconception about carrier screening. In other words, people mistakenly believe that if they have “nothing in the family,” they do not need carrier screening. In reality, most babies (>80%) with rare inherited diseases are born to parents with absolutely no family history of the disease. Rather, there can be many generations of healthy carriers in a family who just never happened to pair up with another carrier. Parents are often surprised by the diagnosis, which is why carrier screening should be considered by all of couples of reproductive age.

Can any couple do carrier screening? Or, do you need a preexisting condition (or a heritage that warrants extra scrutiny – I.e. Ashkanazi Jewish)?

Yes, any couple can do carrier screening and every couple should consider it. While certain inherited diseases are more common in the Ashkenazi Jewish population, this doesn’t mean that they do not exist outside of that population. In fact, nowadays most babies with Tay-Sachs disease, a traditionally “Jewish” disease, are born to parents with no known Jewish ancestry. A study published by Counsyl in JAMA last year showed that expanded carrier screening is more effective than ethnicity-based screening at capturing at-risk couples. Expanded panels, like the Counsyl Foresight Screen, can include over 100 rare but serious diseases. Those who get the information upfront can better manage their risks and consider alternative reproductive options. For example, some pregnant women benefit from additional ultrasounds during pregnancy, fetal cardiac tests, consideration of diagnostic testing, or initiation of early intervention and/or treatment in the newborn period. Sometimes a simple dietary modification can prevent disease onset. For those who obtain the information prior to conception, there is also the option of pursuing fertility treatments and only using embryos that are unaffected. While all of this can seem overwhelming at first, we are fortunate to live in a world where we have access to such great advances in modern medicine— and ultimately some element of control over the outcome of our children’s health.

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What are some of the genetic causes for hearing loss that Counsyl tests for? 

As you’ve openly discussed, your daughter Sonya inherited GJB2-related DFNB1 nonsyndromic hearing loss. GJB2 encodes the protein connexin 26, which is needed for the proper formation of the cochlea, or the auditory portion of the inner ear. This type of hearing loss is recessively inherited, which means that both parents must be carriers of this gene in order to have a child with hearing loss. As you and Yan know, being a carrier does not impact your own hearing in any way. This is because genes are inherited in pairs, and you each have one copy of the gene without a mutation. Sonya, on the other hand, inherited two mutations—one from you and one from Yan—and therefore was born deaf. There are a few additional genes on our carrier screen panel that are associated with partial or complete hearing loss. They include Usher syndrome and Pendred syndrome. The word “syndrome” indicates that the hearing loss is one of a few different symptoms that are inherited together; for example, children with Usher syndrome have both hearing and vision loss. A full list of diseases included in the Counsyl panel can be found here.

How much does genetic testing typically cost and does it depend on the level of testing? How much is covered by insurance? Do you need a referral from another doctor?

Carrier screening is one of a few different genetic tests offered during pregnancy. It is covered by most health plans. At Counsyl, the test can only be ordered by your doctor, but it doesn’t require a referral to another specialist. Since insurance plans and deductibles vary, Counsyl offers a personalized out-of-pocket cost estimate within 48-hours of your doctor’s order. You can then use this estimate to determine whether you want to move forward. Counsyl also offers options for individuals that do not have or are not covered by insurance. To date, we have screened more than 850,000 patients and worked with more than 17,000 healthcare professionals. We strive to make our genetic screens as affordable as possible, so that anybody who wants the information can access it.

When is it best to speak to a genetic counselor rather an obstetrician, gynecologist or geneticist? What can a genetic counselor help me learn that my doctor cannot?

There are a few situations where it is best to speak with a genetic counselor in addition to your doctor. If you have a personal or family history of a rare disease and want to learn more about whether it can be passed to your children, a genetic counselor can help you understand the inheritance pattern and navigate the pros/cons of pursuing testing. Since even expanded carrier screening panels do not cover all mutations associated with rare diseases, a genetic counselor can also help you choose the right DNA test. When it comes to utilizing genetic information, there are no right or wrong decisions, as every situation is unique and personal. Genetic counselors are up-to-date on advances within the field and can help parents think through every decision path. As you know, some parents with deaf children choose to learn sign language and embed themselves within the deaf community; others do as you did and pursue cochlear implants to enable hearing. Both are valid options— different strokes for different folks. As such, when a couple is found to be at risk of passing on a genetic disease to future children, speaking with a counselor can ensure that they have fully explored every possible intervention and chosen one that is right for them. In this regard, Counsyl makes it easy to access professional guidance. They employ more than 50 board-certified genetic counselors who are available on demand via teleconsult once test results are available.

If my husband and I are both carriers, what are my options to ensure a healthy baby?

Two healthy carriers of the same disease gene have a 1 in 4 chance with each pregnancy of conceiving a child with the disease. There are a few exceptions to this rule, because certain genetic diseases are only inherited from mom to baby. Parents use this information in different ways, based on their personal values, the severity of the disease for which they are carriers and the availability of effective treatment. Some couples choose to conceive naturally and “wait and see,” since the odds are in their favor to conceive a baby without the disease. At 10 weeks of pregnancy, these couples might elect to pursue a chorionic villus sampling (CVS) to determine whether their pregnancy is affected. Having this information upfront equips parents with the information necessary to make the right decision for them. For some it allows them to either better prepare for the birth of a child with a chronic or terminal illness, or it may lead them to the difficult decision of ending the pregnancy. Other couples choose to conceive using a sperm or egg donor who is not a carrier of the same disease, thereby reducing their risks. Finally, some parents choose to adopt children, while others may elect fertility treatments (IVF) and test embryos prior to transfer. Where IVF is used, only unaffected embryos are implanted into mom’s uterus, a procedure known as preimplantation genetic diagnosis (PGD).

Shivani Nazareth is Director of Medical Affairs at Counsyl, a DNA testing and genetic counseling service. She worked as a clinical genetic counselor for over ten years in New York City, most recently at Weill Cornell Medical College. Shivani obtained her graduate degree from the Icahn School of Medicine at Mount Sinai and currently serves on the National Society of Genetic Counselors’ Public Policy Committee.

How has genetic testing changed since you started working in this field? Have new screens been added over time (which ones?) What are some of the most recent advances and most active areas of research?

I’ve been a genetic counselor for nearly two decades, and in that time, the field has advanced tremendously. We used to offer genetic screening for only a handful of diseases, like cystic fibrosis and Tay-Sachs disease, based on a patient’s ethnicity. The tests were ordered gene-by-gene, rather than in panels, and the mutations were pre-specified. This meant that most people did not learn they were carriers of rare diseases until they gave birth to a child with the disease. Today, we can test for hundreds of genes and thousands of mutations at approximately the same cost, if not cheaper, than previously used technologies. This gives parents-to-be many more options. If I were to think of an analogy, it would be akin to the way we listen to music. We used to purchase CDs and have access to only a few pre-selected songs. Today, we can download hundreds of songs in digital format, and the previous modality seems absurd. This shift in the way we access genetic information has allowed researchers to focus on treatments that are specific to a patient’s individual makeup, referred to as personalized medicine. It is an area of active research that has made DNA testing relevant to many common conditions, not just rare diseases. One day, we will balk at the idea that the same medications were used for all patients with a similar diagnosis. Instead, medications will be tailored to a person’s genetic makeup, increasing effectiveness and decreasing side effects. In short, a better understanding of an individual’s DNA will change the way we practice medicine. Counsyl has paved the way within the field of reproductive medicine, giving couples more options than ever before to conceive and sustain healthy families. Your family’s story is a great example of the impact that critical genetic information can have in improving the life of a child. Truthfully, this is the stuff that gets me up and going each morning, so I thank you for being brave enough to share your story with the world.  

Thank you, Shivani for sharing your time and insight with us! 
P.s. you may also be interested in checking out Five Takeaways After a Failed IVF Cycle and The Call (where I discuss obtaining the results from our Counsyl tests).

 

Preoccupations and Coincidences

Hours after our OB informed me that our unborn child had a 25 percent chance of deafness, Yan and I attended a piano concert at the Armory. The pianist, in a brief introduction before playing, explained why he had chosen to focus his concert exclusively on Beethoven’s works. Maybe it is the musician in me, but I knew this was a sign. Surely – the fact that we were listening to a concert of Beethoven’s works just hours after our genetic results had been communicated indicated that our child would be deaf.

Thinking back on it – I realize it was a preoccupation – but the coincidences didn’t seem to stop there. When I was 20 weeks pregnant, Yan and I decided to take a baby moon. I didn’t want to travel far, so we decided to take a road trip to the Berkshires. Knowing nothing but its Trip Advisor reviews, I made a reservation at the Birchwood Inn in Lenox, Massachusetts.

When we arrived, we were greeted by the inn keeper, a petite woman with short grey hair and glasses named Ellen Chenaux. Ellen helped with our luggage and gave us a tour of our room. She had gone all out for our baby moon, and provided us with a small basket of cookies, certificates for free ice cream at the town ice cream parlor, a stuffed dog (which Sonya now loves) and even a jar of pickles. It was too adorable. As she turned toward the door, I noticed she was wearing a cochlear implant.

The next morning as we entered the dining room, a white faced golden retriever brushed against the side of my leg, asking for a pet. The sweet animal sat at my feet near the fireplace as we enjoyed our breakfast, and I discreetly threw her a few scraps. Ellen must have noticed that we had connected with her dog, as she approached our table and explained that Quinn – like her – was also going deaf in her late age. Apparently, Quinn came to Ellen years earlier through a program called NEADS — Dogs for Deaf and Disabled Americans — after Ellen had developed late-onset-adult deafness. According to the Birchwood Inn’s website:

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Quinn — aka Molly Quinn McMuffin — is Ellen’s 14-year-old Golden Retriever and former Hearing Ear Dog…Quinn and Ellen — a late-deafened adult with miraculous cochlear implants — were a team for 12 years thanks to NEADS, the Princeton, MA-based association. Quinn, who is now retired, went from being an inmate, and alerted Ellen to sounds Ellen cannot hear by tapping Ellen’s leg with her paw.

Yan laughed as soon as Ellen returned to the kitchen. “Um…looks like all signs are pointing to deafness,” he joked. I tried to laugh it off – but couldn’t help but feel disturbed by the fact that out of every B&B, we chose the only one who had a deaf inn-keeper and dog.

Accepting a New Normal

While I realize it is petty, one of the most upsetting aspects of Sonya’s hearing loss was the fact that she would need to wear hearing aids, and eventually cochlear implants.

I love the way Sonya looks and couldn’t process the fact that she would need external devices in order to hear. Above all, I feared how she would be perceived by others. The implants and hearing aids are visible and will cause people to question whether she is “a normal child.” I am ashamed to admit that it took several audiological visits to convince me that her ability to hear far outweighed such aesthetic differences.

When Sonya was one month old, she received a pair of loaner hearing aids from NYU. Aside from the fact that they blinked red lights to indicate they were on, they were actually very cute. IMG_2387IMG_2384

I realized then that my underlying fear – that these aids would somehow define my daughter – was unrealized. Sonya’s personality continued to shine, and the hearing aids did not take away from that. In fact, people didn’t even notice them – or if they did – they were drawn to her inner and outer beauty and the aids were only a side fact.

 

The Surgery

At 1:50 a.m., this morning I woke Sonya up to feed. I know you are never supposed to wake a sleeping baby, but today was an exception. Today was Sonya’s surgery to receive bilateral cochlear implants at NYU, and she was not allowed to consume anything after 2 a.m. As I held her in my arms, I sang to her and promised her that everything would be okay. The calmer I was the calmer she would be. “Put your oxygen mask on first, before assisting others,” I repeated this mantra to myself.

We arrived at the hospital at 5:45 a.m. Sonya was to check in by 6 a.m. to ensure that she would go first (barring any unexpected surgeries). The entire process was seamless. We only had to wait 10 minutes before we were brought into triage. There we dressed Sonya in her hospital gown (the CUTEST thing ever!) and were greeted by a number of nurses as well as our anesthesiologist.

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Our anesthesiologist in particular made me feel at ease. She had been working with our surgeon, Dr. Roland, for more than 15 years. She reviewed Sonya’s file. Asked some questions and then walked us through the process of putting Sonya under. Her tone was direct but also caring. She kept stopping to gush at how cute Sonya looked.

Before we knew it, it was time to go. I sat in a wheel chair with Sonya in my arms as they wheeled us up to the surgical floor. Yan walked beside us. A nurse parked us behind a traffic jam of five other patients also waiting for surgery. Holding Sonya close I repeated my mantra while caressing her hand. I did everything in my power to remain calm. She looked at me and then at the lights above us. Way too soon a nurse asked me for Sonya. I stood up from the wheelchair and gave Sonya a quick kiss on the nose before turning away. I figured lingering would only make things worse. I heard no cry from her. It is possible she cried later, but I believe she remained calm as the nurse carried her into the operating room. A knot of anxiety tightened in my chest.

I suddenly felt light-headed so Yan and I went down to the cafe to have breakfast. I ordered a blueberry muffin and a coffee. We sat in the lounge area and talked about how well Sonya behaved so far. How proud we were. How adorable her hospital gown was…I wondered if we could we buy it after the fact? When we finally went back upstairs a nurse approached us.

Sonya is doing fine, she told us. The doctor did have issues with her IV. She is a chubby little thing – but the IV is in after about 30 minutes of trying. The surgery just started.

Yan squeezed my hand and looked at me with a grimace on his face. I knew what he was thinking. Our poor baby being had surely been poked numerous times by a needle. But I decided to keep things positive. “If that is her only complication – I’ll take it!”

Just an hour later and Dr. Roland himself came into the waiting room. I stood up and he gave us a two thumbs up sign of relief and signaled us to follow him back into a private room. Sonya was indeed fine. Everything went very well. We would see her very soon. I felt as if a huge weight had been lifted off my chest. I felt light and so very thankful.

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About 30 minutes later, we were told we could go see Sonya. We followed a nurse into a tiny curtained-off room. Sonya’s ears were covered in an ear-muff-like bandage. Yan said she looked like a Cheburashka – a Russian cartoon character. Sonya had awoken, but had fallen back to sleep by the time we arrived. oxygen was being blown into her face. She looked like she was having a good dream.

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When she woke up an hour later, the reality of the procedure set in. Sonya was frightened and in pain. She screamed while she nursed. It was upsetting. The doctor told the nurse to give her morphine. I hesitated before allowing it, but seeing the level of pain she was obviously in, I conceded. Within a few minutes, Sonya was fast asleep. She slept a good long while before waking in a much better mood. A wonderful nurse stayed with us the entire time. She checked Sonya’s vitals consistently and answered any questions that arose. When Yan left to grab us dinner, she sat with me and we talked about the amazing things that were to come when Sonya would be able to hear.

By 8 p.m., Sonya was doing great. She was eating every couple of hours and was pooping and peeing. All good signs. Her pain was now being managed by infant Tylenol. Her vitals were good as well. We decided she was ready to come home.

Asleep in her bed, I alter between states of relief and fear that she will develop an infection. But above all, I feel grateful. We had the most phenomenal medical care. I emailed our surgeon several times over the weekend with questions and he responded each time in under 10 minutes. Amazing. With the surgery behind us, we have so much to look forward to.

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Testing 1 2 3 – CT Scan FAIL

For the past two days, Sonya and I have been at NYU Langone Hospital in Murray Hill, attempting to get her a CT Scan. Her initial appointment was scheduled for Monday, but it turned out that our ENT had authorized the wrong type of exam – and thankfully, a radiologist noticed and canceled it. Had he not done so, Sonya would have been exposed to radiation for no reason…

We were able to secure an appointment for Thursday at 2:30 p.m. instead. Sonya slept in the UBER on the way over, but when we arrived, she was groggy and still waking up. Her sleep disrupted by the fact that it was 20 degree

One of many UBER rides with Sonya
One of many UBER rides with Sonya

s outside. We waited an hour for the appointment and finally made our way into the room.

The test – a temporal bone scan – would only work if Sonya was perfectly still – a feat that she would only accomplish if in deep sleep.

Of course, as soon as we entered the room, Sonya woke up immediately. Her big grey eyes mesmerized by the lights on the machines and the computers. The room had a glass wall through which you could see another room of technicians and computer screens.

The CT Scanner is about the size of a small car. It consists of a surface to lay upon beneath a circular structure that produced a light breeze. A screen on the scanner displayed Sonya’s name and birthday. Sonya looked so small lying on the base of the machine. I held her hand and stroked her eyebrows and cheeks, hoping to get her to sleep.

Sonya stared at the technicians and when she caught their eye, she smiled. There is just something about this child – she is always working to connect with people. It’s amazing. While Sonya was in a great mood, the technicians had looks of concern on their faces.

As a new mom, I am only getting to know my daughter. While I have cared for her for three and a half months, as she develops, her tastes and moods change. Typically, nursing will accomplish the goal of getting her to sleep, however, so I offered to try that. The technicians put me in a small room and turned the lights down. Sonya immediately took to the breast, sucking voraciously. She takes about 10-15 minutes per side, and every five minutes a technician would peak his or her head through the door – to see how I was doing.

When she had finally finished, Sonya looked up at me with tired red eyes, and milk dribbling down her chin. Were we at home, she would have gone to sleep immediately had I swaddled her and rocked her to sleep – singing Norwegian Wood (she is a Beatles fan!). But here, her eyes darted around the room. She yawned and then stretched – bending backward – her cue to me that she no longer wished to be held. As I continued to hold her in my arms, she kicked and struggled. Then, she pooped. A loud gas and then warmth! It had exploded up her back and onto my pants and sweater.

A technician poked her head back in, “everything okay in here?”

“Yep yep. We are fine. Just going to change the baby and then hopefully she will sleep,” I said. Although I knew that a diaper change was never followed by sleep. The cold baby wipes only disturbed her.

With Sonya changed and dressed (and with poop soaked through my own clothes hastily wiped off with a baby wipe) I held Sonya and walked toward the door as a technician simultaneously opened the door to check back in. She looked at Sonya and frowned.

“Still not sleeping, eh?”

Her disappointment was frustrating. I mean, here I was, covered in baby poop – doing my darndest.

“Nope…we might have to reschedule this test.” And at that minute, Sonya’s head dropped, she produced an enormous belch and a fountain of white curdled milk poured out of her mouth and on to her clothes and my arm.

The technician made a “yikes” face, and then offered us a bit more privacy again.

I sighed and looked at Sonya. She smiled.

Despite my grievances against the U.S. healthcare industry at large – and our ENT who made the earlier mistake, of course – the technicians at NYU were wonderful. They told me that I could come back tomorrow and as soon as Sonya is asleep – they would push other patients aside and attempt to scan her.

On Friday I rushed over to NYU as soon as possible – around noon. Sonya again fell asleep in the car ride, despite my efforts to avoid it. When I wheeled her in, the staff immediately made way for us. Yet, as soon as I put her on the table, her eyes popped back open.

Three hours later I was still struggling to get her to sleep. We returned home in defeat – as Sonya slept happily in the car.

The ABR Test

While I knew Sonya had hearing loss, I didn’t know how profound it was until she did an Auditory Brainstem Response (ABR) test. This test uses a special computer to measure the way Sonya’s hearing nerve responds to different sounds. A much more sophisticated tool than the initial hearing screen done at the hospital, the ABR test required a visit to NYU Audiology just 11 days after Sonya’s birth.

I held Sonya in my arms as a young audiologist attached electrodes to her forehead and above her ears. The audiologist performed a number of tests over the course of 90 minutes. Sonya slept (though she still managed to soil her diaper — which leaked onto me — ah the joys of motherhood…). I held her as still as I possibly could, and watched the computer screen. Waveforms – recording brain activity in response to sound – traveled across the screen. The audiologist remained silent.

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When the test was over, the audiologist gently removed the electrodes from Sonya’s head with warm water. Sonya didn’t even flinch. The audiologist told us she needed to speak with her colleague and would be back momentarily. I prepared for the worst.

When she came back to the room, the audiologist informed us that Sonya had not responded to the test in her left ear and had only marginally responded in the right. She had failed the screening and the test indicates that she is profoundly deaf. Despite my preparation, tears welled up in my eyes. And then something happened that I will never forget. The audiologist’s eyes also welled up with tears. I realized that this was an extremely difficult conversation for her to have as well. “I am so very sorry,” she told me.

I am used to doctors with cold bedside manner. But the audiologist’s inability to hide her emotion – made me feel better. Her empathy was very comforting.

Her hand quickly wiped away a tear and she sniffed. Apologizing awkwardly and unnecessarily, she then explained our options. We could pursue sign language and be part of the deaf community, or we could opt to focus on oral/auditory language. If Sonya did indeed have GJB2 she would likely be an excellent candidate for cochlear implants. If we went that route, she said, we should have Sonya fitted for hearing aids as soon as possible.

The idea of my baby girl wearing hearing aids was too upsetting for words. I couldn’t fathom attaching such devices to her head. And at 11 days? Why? What was the point? But the audiologist held firm. “We have seen significant improvement when babies wear them early,” she said. “The sooner we can stimulate the auditory nerve, the better. It will help her transition to sound much easier when she is implanted with cochlear devices.”

She even offered to give us loaner hearing aids that day and to have hearing aid mold impressions done in the next 10 minutes. But I said I needed to think about it further, and we left. My head spinning as we got back in the UBER to travel uptown. The future seemed so uncertain for Sonya that day. “This is my deaf baby Sonya Rose.” I repeated to myself as I prepared to introduce her to strangers who would stare awkwardly at the huge hearing aids dangling on the sides of her head.

Grieving Hearing Loss

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Postpartum depression hit me hard the days following our homecoming. Not only was my body reeling from the sharp drop in hormone levels, but my mind was processing another loss – my child could not hear.

Such grief came in waves. I would find myself staring at Sonya as she fed. My fingers tracing her perfect silhouette. As I enjoyed a quiet moment of motherhood, I would suddenly remember that she was deaf. My mind churning with what ifs. How would she survive in New York City if she can’t hear? She could get hit by a car! Would she ever be able to get a job? How? Would she be a part of normal society? The hearing aids will look hideous and people will stare. My poor baby who is so beautiful will have ugly devices. Kids will make fun of her, and the biggest most challenging question: how do I tell people? The list ran on and on. I felt like I was drowning.

During my postpartum checkup, my OB advised me to contact the Seleni Institute – a nonprofit organization dedicated to helping women with reproductive and maternal mental health issues. I held onto the number for a number of days. But eventually I knew I could not continue to be a good mom to Sonya with everything I was feeling.

The Seleni Institute has professionals who specialize in helping parents of children with special needs. I knew I didn’t need long-term therapy, rather, a few sessions to help me through this particular rough patch. Dr. Christiane Manzella, PhD, FT is the Seleni Institute’s clinical director and has been a therapist and grief counselor in New York City for more than 20 years. In a recent article she penned for the Institute’s website, she offers a few ways to begin the healing process:

Know that your feelings, whatever they are, are normal. Parents are often relieved to know that feeling deeply disappointed, frustrated, and sad is part of the normal grieving process. It’s important to let yourself feel complex emotions as they come up.

Know that you are not alone. Connecting with other parents of children who have special needs will help you learn that you don’t have to hide your disappointment or go through challenges on your own. Hearing about others’ experiences will help lessen the stigma you may feel about your own complicated emotions.

Surround yourself with support. Keeping grief hidden can harm your overall quality of life and day-to-day coping skills. Find a safe person or place (such as a support group) to discuss your feelings openly.

Expect ups and downs. This is a process that will have many twists and turns. At times you may have a resurgence of grief, especially when other challenges arise. (For example, you may grieve when you become aware of a missed developmental milestone.) But knowing you’re not alone and understanding that your feelings of disappointment, shame, or guilt are perfectly normal can help you work through your grief and develop new coping skills that will improve your life and the life of your child.

– See more at: http://seleni.org/advice-support/article/grieving-when-you-have-a-child-with-special-needs#sthash.bwvipEtv.dpuf

Birth and Deaf

Sonya was born on a sunny Sunday in New York City. Unlike everything that came later, the birth was planned, short and smooth. I was induced at 9 a.m. By 2 p.m., I was given another dose of medication to encourage contractions. At 5 p.m., moderate contractions began and for two hours, my husband was at my side – helping me count through the pain – which really was just uncomfortable at that point.

It wasn’t until 7 p.m. (of course just 10 minutes after my husband left the hospital to grab some dinner) that things got… real. My parents were in the delivery room. My mom was trying to take over my husband’s role and count through the contractions, but she was either too fast or too slow. Then, I started to hyperventilate. My OB told me that for 14 minutes, I experienced true labor. I remember removing the oxogen mask to notify the nurses that I had a very low pain threshold. Like as if they couldn’t tell. I was shaking violently, throwing up in between breaths, and I was only two centimeters dilated. My OB ordered an epidural.

Yes, this trauma was extremely frightening at the time. But it passed so quickly. Once the epidural was in – things moved quickly – and relatively painlessly. I remember feeling a slight pressure around 9 p.m. It was so slight I hesitated before calling the OB.

“You’re ready to go my dear!” She said. By 11:15 p.m. Sonya Rose was born. She was the most beautiful baby I had ever set my eyes upon. Despite the fact that she was only a few seconds old her eyes were open and alert. They set upon my face and I felt her love.

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The time after the birth seems much darker. Physically, we were in a dark room (though it was private!) with a view of another building and just a sliver of sky. I didn’t know if it was day or night. Sonya was wheeled in and she just stared at us from her bassinet. She was perfect. With big grey eyes, a tiny nose and perfect mouth.

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While I struggled with breastfeeding, my own recovery and the psychological trauma that child birth had left behind, my husband was incredible. He cradled Sonya while I struggled or slept. They connected so easily. She was immediately a daddy’s girl.

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Later, Sonya was taken away for her hearing screen. It was a moment I had been dreading for months. I knew my husband and I were both carriers of GJB2 – a non syndromic hearing loss gene. There was a 25 percent chance that Sonya had hearing loss. While she was gone, the hospital served us our dinner. Salmon and cous cous, grilled asparagus, and vanilla ice cream for dessert. I couldn’t eat any of it.

When the nurse came in, she immediately let us know that Sonya had not passed her first hearing screening. “This happens frequently,” she said. “Many babies have amniotic fluid in their ears, which hampers their ability to hear. We will try again tomorrow, but do not be alarmed.”

A deep pit of sadness formed in my throat. Tears welled up in my eyes. I tried to act like everything was fine – no big deal. I agreed with the nurse that we could try again tomorrow, but as soon as she left, I broke down and sobbed. It was unlike any kind of sadness I had ever felt in my life. As much joy as Sonya’s beautiful face brought to my heart, I knew she was deaf. And this knowledge brought intense, dark pain.

The Call

When I was 10 weeks pregnant, I received the call from our OB. I remember I was sitting in my windowless office. There were a dozen red roses on my desk, which had arrived earlier that week from my husband for Valentines Day. He had never sent me flowers at work before – but I suspected he wanted to do something special for me this year.

“Melissa, I am calling to discuss the genetic results from your Counsyl test,” she said. Her tone was alarmingly to the point. “It appears that both you and your husband are carriers of a non-syndromic hearing loss gene called DJB2. This means there is a one-in-four chance that your baby will have hearing loss.”

While Sonya was special from the moment I knew of her existence. I certainly wasn’t expecting her. My husband and I were so happy and in love — having a baby wasn’t the most important thing to us. But, I was eager to finally rid my body of the pill. If a baby came or didn’t come, it was meant to be, I decided.

A month later, my body felt different. My breasts were tender and my stomach churned at the smell of garlic or coffee. I bought a pregnancy test at the pharmacy around the corner and was shocked to see two blue plus signs. I called my mom. I couldn’t believe that my life was going to change so drastically. I was scared at what would happen to my body. I was scared about what would happen to my relationship with my husband. I cried. But beneath the tears my heart beat with excitement and my soul felt light. I was frightened but so very happy at the same time.

The OB said that I had an option of an amnio, though she didn’t recommend it. Such a procedure was risky – and why risk an otherwise perfectly healthy pregnancy? The level of hearing loss was also unknown. The baby could have minor hearing loss that would be fixed by a hearing aid. There was also a chance that the baby would be profoundly deaf (and while this testing was new, most babies with similar genetic mutations had profound deafness). She told me to speak with a genetic counselor and to think about it. I felt an overwhelming and consuming darkness from within. I hung up the phone and went to the bathroom. A sob from deep within my chest seemed to erupt as soon as I closed the stall door.

A week later, my husband and I met with the first of many genetic counselors, who unfortunately had little knowledge of the GJB2 gene mutation we both carried as this mutation was only recently added to the panel test.  My husband – being the rational and logical problem solver that he is – spoke to numerous other geneticists, professors and doctors over the next several months. I tried to join him in the research, but the thought of deafness was so painful to me that I ultimately decided to do what I felt was best for me and for Sonya – and that meant to be in denial. After all, there was still a 75 percent chance that Sonya would either be a carrier of the recessive gene (and therefore it would not be expressed) or that she wouldn’t have it at all. These weren’t terrible odds.