August is Spinal Muscular Atrophy (SMA) awareness month.  Shivani Nazareth, one of our genetic counselors, spoke with Brittany Madore about her experience with SMA.  By sharing her story, Brittany hopes to inspire doctors to provide SMA screening routinely and families to understand their options. Brittany is a hospice nurse who deals with end-of-life issues on a daily basis.  Her story gets to the heart of why carrier screening prior to pregnancy is ideal, and sheds light on how to improve access to carrier screening across the country.

Q: How did you meet your significant other?

Brittany: We met on eHarmony.  People laugh when we say that, but these days, lots of people meet that way.

Q: What steps did you take to prepare for a family?

Brittany: We planned on having kids at some point in the future, but due to a birth control “slip” we were about 2-years ahead of schedule.  We did all of the usual tests with nothing invasive because we had no high-risk issues.  I was 29 and very healthy and had already carried and delivered a healthy little girl (now 9 years old).  There was never any talk about genetic conditions other than cystic fibrosis and Down syndrome.  My pregnancy was normal and healthy.  He kicked and moved normally, and I never had any complications.  My water broke on my due date and we had a beautiful, uncomplicated birth.  Dad actually delivered him (go Dad!) and his big sister cut his cord.

We named our baby boy Timothy Sullivan.  He was 8 lbs 3 oz; slept great, loved to be cuddled, and he breastfed like a champ.  When he was about 4-5 weeks old, we started to notice that he didn’t attempt to lift his head.  My mother and I discussed some other behaviors that seemed a little off… like his fairly quiet cry, and the fact that he didn’t kick his legs.  By about 6 weeks old he was “doll-like,” meaning that whatever position I placed him in was how he stayed.  He was eating well, sleeping well, and was smiling and making eye contact.  We called our pediatrician and when we brought Sullivan in, he was immediately concerned and checked his reflexes, which were all absent.  Being a nurse, I knew that meant some pretty horrible possibilities.

I was up that night searching the Internet for about 2 hours.  I found his diagnosis that night.  I found descriptions of symptoms and pictures of other babies who had inherited it as well.  He had every sign of it!  The next morning, we went to see a pediatric neurologist for diagnostics. The ride into the neurology office was hell.  I knew what we were going to learn at that visit and to have your worst fears confirmed is such a terrible feeling.  The neurologist assessed him for about 30 seconds and asked if we had found anything online.  I was holding my baby’s hand with my face buried on the exam table next to him while trying to enunciate slowly and keep from crying and I said: Spinal.  Muscular.  Atrophy.  Her reply was simple, and I will never forget the reluctance and the sadness in her voice.  At the end of a long sigh she softly said “Yeah.”  I immediately sobbed all of the tears I had been holding back all morning.  I didn’t need any other information.  I knew she had just given my beautiful 49-day-old son a terminal diagnosis with a prognosis of 4-8 weeks.
Q: What kinds of medical decisions did you have to make for your son, and how did they affect your relationship with your spouse, family, friends?

Brittany: We decided on absolutely no intervention. That meant no immunizations, no deep suctioning, no machines to help him breath, no feeding tube, no surgeries, no doctor appointments.  Hospice provided a baby scale so we could weigh him at home.  After his diagnosis, we never brought him to another doctor appointment of any kind.  No therapy.  No dietician.  Nothing.  We very literally took him home to love him.  We didn’t want to waste precious time driving to doctors.  His car rides were few and far between and he required a special flat car seat.  Thankfully, we agreed on all decisions.  Our family also supported our decisions.  We did not get any negativity about our decisions in any way.  If there was hope, that would have been a different story.  But we had none.  He was going to die… soon, and there was nothing we could do about it.  We agreed that a short, wonderful life was better than a life paralyzed, in a wheelchair, with no ability to talk, eat, cough, or hold your bowels.  We chose quality over quantity.

Q: How did your career affect your ability to handle your son’s diagnosis?

Brittany: I am a hospice nurse, and I absolutely love my job.  I am very thankful to have had experience in “end of life” issues, symptom management, and grief.  Within hours of Sullivan’s diagnosis, we requested an order for hospice and the agency I work for provided it.  I felt very comfortable receiving hospice care from my coworkers, as they were also my friends.  One of the most common effects of this disease is the loss of the ability to suck and swallow.  With the help of my coworkers, we decided not to intervene with the process of the disease at all.  We did not want to “buy” any extra time with our son because the price is never up front.  There are risks with feeding artificially and we did not want to cause more harm than good.  We focused on making every minute happy and discomfort-free.  We welcomed all friends and family to come visit any time.  We have pictures and video of everyone holding, kissing, and talking to him.  We baptized him with 100 friends and family gathered around.  We put a Christmas tree up before Thanksgiving because we knew his time was short and wanted him to see the Christmas lights.  We took him to his sister’s Christmas concert because we knew he would love to watch her perform and hear her sing.  We tried to enrich his life with sensory experiences and the love of family and friends.  He loved to lick cantaloupe, apples, and chocolate.  He tried ice cream, greek yogurt, and blueberry crisp.  He didn’t like the feeling of the Christmas tree in his palm and he made an awful face when he licked a salty chip.  He watched Finding Nemo and Elmo Singing with the Stars during the very few times he could not be held.  He had a bath every single day and he loved the water.  He loved watching the fire in the woodstove glow and the ceiling fan turn.  He lit up when he heard his mom, dad, or sister talk.  He enriched our lives in such a profound way.

Q: How old was your son when he died?

Brittany: He was 4 months old when he passed at home in my arms, with his daddy holding his hand and his nana stroking his legs.  More precisely, he was 130 days old.

Q: What do you hope to do for other families by talking about your son?

Brittany: I want SMA to be as widely known as cystic fibrosis and Down syndrome.  It is considered a rare disease but is too common for no one to have heard of it.  My OB and PCP had never heard of it.  My mother and I are both nurses and had never heard of it.  So many babies die of this disease and carrier testing is available.  I want everyone to be informed about the reality of genetic diseases and be offered the option of carrier screening.  Healthy parents can have healthy pregnancies and give birth to a terminally ill baby.  Carrier screening could have prevented my son and my family from suffering.

Q: How did you proceed with trying to plan for more children?

Brittany: We decided to have the full Counsyl test to confirm our carrier status for SMA and see if there were any other risks.  We have decided to have a chorionic villus sampling (CVS) between 11-13 weeks of pregnancy, and terminate a pregnancy that was SMA affected.  We personally will not put another baby through SMA and feel that our older child should not suffer the loss of another sibling.  Another family I know called an early termination an “early goodbye.”  I think that about sums it up.  We will have to say goodbye one way or another, so we prefer to say goodbye before the suffering starts.

Q: For the sake of physicians and genetic counselors who care for patients like yourself, can you describe the experience of attempting to get carrier screening?

Brittany: There are currently no providers in the state of Maine who will order the Counsyl test.  My OB offered to order SMA carrier screening through another lab, but it was several hundreds of dollars and not covered under my insurance.  We really wanted to have the Counsyl test because we wanted information on other genetic diseases, as well as SMA carrier confirmation.  Since we had insurance, the Counsyl test was only $99 each and provided lots of information.  We didn’t understand why we should pay hundreds or thousands of dollars for confirmation of carrier status.  We just watched our baby die of SMA… that was confirmation enough.  It was very important for us to learn of other hidden disease causing genes, especially since they were available at such an affordable rate.  After talking with a Counsyl representative and obtaining a list of providers in New Hampshire and Massachusetts, I contacted the closest one and made a new patient appointment.  They would not order any testing without actually becoming a patient.  I had all of my files sent to the office, which took about 2-3 weeks.  I called my insurance company to make sure they covered a visit outside my state of residence, which they did.  I then waited a month for the appointment.  I also requested the day off of work as the travel would take up most of the day.  The day of the appointment I drove a total of about 5 hours round trip and spent 1 hour in the building.  After speaking with the doctor and even telling her the story of losing my baby to SMA, she denied my request to have the Universal Panel through Counsyl and sent me home without a test kit.  I cried all the way home.  I didn’t understand how such a simple request could be so hard to fulfill.  I called the Counsyl representative again and he gave me information that I could take back to the office.  The doctor was misinformed and she was not giving me the correct information.  When I called the office the next day I spoke with their nurse practitioner that totally understood my request and my dilemma.  She ordered the test on the spot.  Since I did not have a test kit, the new dilemma was waiting for it to come in the mail.  Again, Counsyl assisted me in getting test kit codes for the provider so they could be mailed out a.s.a.p.  I had my blood drawn the next day and my significant other provided his saliva sample for his kit.  We had our results in 10 days.  The Counsyl kit detected carrier status for both of us.  It also detected 4 other mutations for him.  We went a step further and ordered another kit for myself to have sequencing done for the mutations he was positive for (another affordable $299). It cost us about $500 to have all of our counsyl testing done and the results are priceless.

Q: Is there anything else you would like people to know?

Brittany:  Although I believe our decisions were the best for our family, we believe all families make decisions that are best for their families.  We do not judge others for their decisions even if they are quite different than ours.  Our goal is to raise awareness and spread the word about available and affordable carrier testing. We are thankful to have these results to guide us, and we hope other families can have these results prior to the loss of a beloved child. Our hearts are full of love for our precious boy, but our memories and pictures are all that we have left of him.

Brittany, age 30, lives with her significant other, Tim, and their 9-year-old daughter in southern Maine.  She graduated from nursing school in 2007 and has spent 5 years in the role of a Hospice Nurse, providing care to terminally ill patients and their families.