SMA Awareness- The Ella Hunt Story

Despite the fact that SMA is the #1 genetic killer of kids under two years old most people have never heard of it.  Even doctors in major hospitals are extremely uneducated about the disease.  This is a story that exemplifies why SMA awareness needs to be spread. Ella Hunt came into the world on August 2^nd 2011 and was welcomed by her parents Erica and Dan as well as her two very active brothers, Noah and Carter.  When she was just 4 months old she presented as “significantly delayed” and the tests began.  The Hunts were given their beautiful daughters devastating diagnosis of SMA Type1, the most severe, on December 20^, 2011. Erica writing about that day:

“Picture this moment, I (mom) sit in a dark hospital room at 4 am waiting for the clock to tick as this is the day we are running tests to determine what is wrong with our precious baby girl. I had heard the letters SMA mentioned by both the Developmental Pediatrician and the Neurologist. I had also been warned NOT to google anything by the doc’s. By 4 am I couldn’t stand it. I googled it and there it was……

SMA, a fatal illness with life expectancy of less than two years. A disease that limits kiddos from having (any) muscle movement, a swallow or respiratory function. I was heartbroken and with momma’s intuition I knew this was it.

Less than 6 hours later, my worst fears were confirmed. Only it was worse news than we thought. Upon diagnosis, we were told we had weeks to months left with her. ‘Go home and hold her.

‘She is going to die in your arms or in her sleep’ the doctors told us.

I vowed then to never put her down until that time came. We cried out in agony realizing this gift of life would be taken home way too soon.The hospital sent us home (a 3 hour drive) and had us immediately placed on Hospice. All her physical therapy services were cancelled and little to our knowledge at the time, Ella was also discharged as a patient (not just discharged from the hospital).

THERE WAS NO HOPE.

We were encouraged to sign a DNR (Do Not Resuscitate) form which neither Dan nor I could get ourselves to do. Looking back, it was a whisper from God telling us there is more to this story and it is not over yet.”

Thankfully Erica and Dan heard that whisper as their prayer for more time was about to be answered.  A few states away a stranger, another SMA mom, was about to learn about Ella’s story.  Sarah, proud mother of two boys and a daughter Stella (SMA Type1), received a message from a friend in California about a blog she had come across.  Because Sarah actively spreads awareness her friend knew she would want to read about this little girl in Illinois.  A woman was making purses from Ella’s dresses and wrote a blog about it.  Sarah contacted the woman and asked if it would be ok for her to speak to Ella’s mother.

Sarah’s fateful phone call to the Hunts came one day before their scheduled meeting with the funeral home, which was the 8^th of January.  Ella’s celebration of life was scheduled for the 15^th of January.  They wanted family and friends to celebrate her life while she was still with them although they had accepted that the funeral would follow shortly after. Erica refers to this incredible SMA ambassador, Sara Turnbull, as their personal angel.  She introduced them to her daughter Stella. Her (then) 5 year old SMA Type1 daughter.  5 Years old? She explained that there are options in care that can give a family more time.  Time is what the Hunt family was after so they listened intently to the information the doctors had failed to mention.  Sarah described a life that would not be easy, a life with lots of machines, but a happy life.  A life with potentially years, instead of only months with their daughter.  While there are no guarantees with anything, they wanted to try.  Sarah suggested they contact Dr. Schroth (SMA specialist) in Madison WI.  Sweet Stella proved to the Hunt family…

THERE IS HOPE

Erica writes about the days after that phone call:

“We called Madison directly the next day. Instead of planning a funeral we began planning her life. Instead of planning on her dying, we began to plan on her living. We made the trip to Wisconsin two weeks later and left shocked. Dr Schroth did not give us choices like IF you choose this, it was more like ‘so, you are here, and if you want more time, this is what we need to do.’  We left armed with resources and most importantly hope and a vision for her life.

On the second day of this SMA awareness month (August) Ella turned 2 years old.  A huge milestone for all SMA families.  Not only is she surviving but she is striving.  She has some speech, a huge smile, and an active lifestyle with lots and lots of “Dancing in the Rain”. So why do we need to spread SMA awareness?

Because families wanting more time should know ALL of the options.

Look at this smile.

CLICK HERE FOR VIDEO

SMA Awareness – Care Decisions (Type1)

Picture courtesy of SMA Awareness Ribbon

An SMA Type 1 diagnosis is devastating to say the least.  The doctor comes in and tells the parents their beautiful baby, the light of their life, the life they had so much hope for is going to be cut short.  It is hard enough to learn there is something, anything wrong with their precious angel but to find out something like an SMA prognosis is simply earth shattering.

THEN…These devastated parents are asked to make decisions no parent should ever have to make.  They are asked how much care they want to give their child.   They may even be told that there is no hope.  They may not be given any options at all.  They may be told to go home and simply enjoy the little time they have.  Others may be told the only way they will leave the hospital is to have a tracheotomy and not even be offered other options.

That is why awareness so very important.  

There are basically 3 options of care for an SMA Type 1 child:

*Palliative Care – Also called comfort care.  The child is kept comfortable with the use of oxygen and pain relieving medications until the time they receive their wings.

*NIV (Non InVasive) Respiratory Care – A Bi-pap machine is used to assist the child in breathing.  Several other machines are also used in conjunction with NIV:  Cough Assist, pulse-ox, feeding pump among others.

*Tracheotomy – Instead of a Bi-pap mask, a ventilator helps the child breathe through a tube attached to a hole in their throat tube which provides a direct path to the airway.  Most of the same machines are used as in NIV.

There are NO guarantees with any of the care levels.  Each and every child is different.  Parents need to be told that there are options.  They need to be filled with hope, not fear.  The fear will be there, it is inevitable.  We have lived with that fear every single day for the last 4 years. But because of all those great moments in between, the giggles and the milestones, we think more of life than we do of death.

Judging a situation is always easier the further away you stand.  Some would say that a parent choosing to do nothing doesn’t love their child or a parent choosing a trach is holding on too long.  Neither could be further from the truth.  The devastation that SMA forces on a family is harsh, no matter the length of life and no matter the decisions that are made.

Each family must choose what is right for THEIR family and THEIR child.  There were so many times I wished someone would have told us what was right for us.  We simply prayed for those direction and looked into Jadon’s eyes for answers.  We firmly believe the path we have walked was intended for US and JADON.

We would never dream of judging anyone’s decision, we don’t have the right and we certainly don’t have the authority.  What we want is for every family to know ALL of the choices for their newly diagnosed child.  Some doctors are uneducated in the disease and give no options and no hope.  Others may even know the options but decide on their own what is “right” for the family.  In their mind there is no quality of life for a child who cannot move a muscle.  Even medical professionals don’t have that authority.

So this is why we spread awareness, because knowledge is power.  If a family has all the information and decides that palliative care is right for them, we want to stand by them and help them “Dance in the Rain” through their shorter storm.

There are too many stories of families who were never given the options but wish they had been.  Sometimes, just sometimes, because SMA awareness is being spread, a family simply looking for more time with their beautiful daughter will receive a call.  A call from a complete stranger, an SMA Mom, who is the answer to their prayers…be sure to check out our blog tomorrow (Saturday) for this exact story.

Milestones

A year can be measured several ways.  12 months. 52 weeks. 365 days.  But to us, we measure a year one day at time.

Yesterday marked the one year anniversary of Bug’s trach surgery.  The reasons that led to our decision for Jadon’s trach were burned so vividly in our minds.  The extreme respiratory distress episodes that resulted in single digit oxygen and heart rate readings – and more times than we care to remember, no reading at all.  But Jadon always bounced back, so we knew he had a lot of fight in him and we would happily go as many rounds as he wanted – no matter what the odds.  And with Jadon’s baby sister due to make her appearance in December 2012, it was extremely important to us that he get to meet her and she meet him.

That morning I walked down the hallway into the OR with Jadon telling him how proud I was of him and that everything was going to be great.  That last piece was more of a pep-talk to myself –  to trust that everything would be okay.  Surgery is risky for anyone, but for an SMA kiddo, the stakes are heightened.  The next couple of hours Tony and I paced around the hospital room until we finally got the page – Surgery was done.  Jadon did great and they would bring him to his room in a little bit.  When they brought Jadon in, streams of doctors and nurses piled in but I didn’t really see them.  The ENT surgeon began telling us about the surgery, but I struggled to focus on his words.  My eyes were just fixated on Jadon’s face and I kept thinking over and over how handsome our little guy was.  I didn’t notice the tube now attached to his throat or see all the equipment surrounding his bed.  All I saw was him.  The remainder of the day was a blur, but I distinctively remember sitting by Jadon’s bedside holding his hand and starring into his face.  Running my fingers across his forehead, cheeks, bridge of his nose and thinking how insanely good it was to see his little face completely mask-free.   Up until that morning, Bug had a bi-pap mask on more hours during the day than off.    And to wake up the next day and be able to give him kisses without dodging the mask was absolute pure joy.

The next couple of weeks in Madison and even the weeks that followed after returning home we continued to learn more and more about his trach, but never once did we regret our decision.  Knowing that Jadon had a more stable airway was comforting to us and allowed us to “breath” just a little easier too.  Because of the severity of his episodes, we are quite certain that without the trach we would not have gotten to experience the amazing milestones of this past year with Jadon:

• First Day of School
  

  FIRST DAY OF SCHOOL!!!!

• Welcoming Gracyn into our family
  

  Big Brother

• Skyping into school
  

  Skyping

• BUG Run (all the media appearances)
  

  BUG RUN 2013

• Bad News Bears
  

  Happy Birthday after rounding the bases

• 4th Birthday
  

  Birthday Party

Yes, a year can be measured several ways, but we will continue to measure them one blessed day at a time and all the while, dance in the rain.