After difficult journey, my daughters are thriving after life-changing diagnosis of natural killer cell deficiency

2013-04-15 12:35:19 by Emily Murphy - Patient Family, as posted on the inside.akronchildrens.org blog.

Molly Molly

They say that when you have a child life begins.  It is hard to believe that when you aren’t a parent.  Life began for us 3 ½ years ago in July 2009.

My oldest daughter, Molly, was born and we were the proud new parents of the most perfect little baby that ever lived.  Molly was a full-term 8 lb 6 oz healthy baby girl.

At 2 months old Molly had her first cold. At 4 months she was still fighting her infection.  This pattern continued, and at 6 months old, I began questioning that there was more to this that just a cold.

I was told this was normal and that babies in daycare are always sick – “We call that daycare nose.” Despite all the reassurances from family, friends and doctors that nothing was wrong my  instincts told me this is not normal and something is wrong.  And so begins our journey to find out why our beautiful baby was so ill.

Ava Ava

Illness after illness, oodles of doctor visit, surgeries, and more referrals later, our daughter Ava Grace was born.  Ava, too, was a full-term 7 lb 7 oz healthy baby.  At 2 ½ months, she got her first cold and ear infection.

By 6 months she had already had 4 major ear infections, 3 of which ruptured her ear drums.

And by 8 months, she had her first surgery for ear tubes.  Her ear infections were secondary to URIs (urinary tract infections), bronchitis, croup, and RSV.

We saw doctor after doctor, each telling us that they should be fine, they will outgrow it, they have allergies, they are in daycare, this is expected. Last year alone we had 51 office and hospital visits.  We had 8 doctors and still no diagnosis and 2 very ill little girls.

In  October of 2012 we got our break. Dr. Blaise Congeni’s nurse suggested I contact Dr. Nancy Wasserbauer.  At this point I was so incredibly frustrated, discouraged and ready to believe that there is nothing wrong, that I must be crazy.

Ava and Molly Ava and Molly

I called her office and begged the nurse Debbie  to ask Dr. Wasserbauer to please review our charts before we make an appointment because I don’t want to waste her time or ours, and frankly, I was tired of being told they are okay.

Dr. Wasserbauer reviewed our charts and we scheduled an appointment.  On the day of the appointment she entered the room and the first thing I said to her was, “I am desperate, you are our 9th doctor. My kids are sick and we need help.”  She told me it stops here.  And it has.

Dr. Wasserbauer diagnosed Molly and Ava with a very rare primary immune deficiency called Natural Killer Cell Deficiency.  The NK cells in their bodies are not functioning -at all.

Molly Molly

NK cells are responsible for fighting and attacking any viruses that your body is in contact with. They are also responsible for attacking and killing tumor cells.  The crushing realization that not one but both of your children have this devastating, life-changing disease is almost uninterruptable.

We waited for this day for 3 years to have a diagnosis, but not this one!  It is so rare and research about the disease is next to none. And actually finding other people to network with has proven impossible. There is no cure; their infections are treated symptomatically.

We live in fear of germs, crowds and the next devastating infection. We live every day in the moment,and hope and pray for the best.  Despite their illnesses, Molly and Ava are the most delightful little girls any mom could ever want and I am so proud they are mine.

Dr. Wasserbauer has been our saving grace. Her warm bedside manner and gentle touch do not go unnoticed with the little ones.  She delivers exceptional care and we are so grateful for her.  She is a phenomenal physician and Akron is so lucky to have her.

Molly and Ava under Dr. W’s care have both been healthy for over 6 weeks. This is the first time in Molly’s life that she has gone this long between infections. With Dr. Wasserbauer, our children can live a happier healthier life.

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