Shriners Nurses Give Behind the Scenes Glimpse on Rare Disease Day

Yesterday, February 29, many people around the world observed World Rare Disease Day, including those of us who work at Shriners Hospitals for Children. Right here in your own backyard in Frontenac, we have one of the medicine’s most prestigious centers for researching the world’s most rare bone diseases in
children: the Center for Metabolic Bone Disease and Molecular Research.  Today, I turn my blog space over to my coworkers in our Research Center.

These observations were written and gathered by Amy Reeves, MS CRM, CCRP, clinical research coordinator.

I am excited that this year is a leap year, so the day will fall on February 29,
truly “a rare day for rare diseases.” You may be wondering why rare diseases
are so near and dear to me.  No, I don’t have a child with a rare disease.  I have
hundreds of them, because I work at Shriners Hospitals for Children at the
Center for Metabolic Bone Disease and Molecular Research. 

For the past 30 years, the Center for Metabolic Bone Disease and Molecular Research  (or as we call it – the Research Center) has been dedicated helping children ith rare diseases by diagnosing, treating, and researching more than 100 rare cnditions.  In gearing up for Rare Dseases Day, staff at the Research Center reflected on what it is like to work hre.  I’d like to share my story, and a few of theirs.

Amy Reeves, MS CRM, CCRP

I joined the team just three years ago to help coordinate clinical studies for a
groundbreaking new treatment for a rare disease called hypophosphatasia.  I thought it would be exciting to be a part of something that could change a child’s life.  I didn’t know how much these kids would change mine.  I work closely with about a dozen children who have become like extended family to me.  While they are all so different, what they all share is intelligence and courage that I didn’t know was possible in children of this age.  They are my motivation.  They are what make me smile when I have no other reason to smile. 

Angie Nenninger, RN

I worked at Shriners Hospital for 6 years prior to taking my position in the Research Center.  After being a nursing supervisor, I thought I knew this hospital
inside and out. However, it did not take long to realize that there was much
more than meets the eye in the Research Center.  I had no idea most of the
diseases seen here even existed, much less how they were treated. 

Patients come here from all over the country for the expertise that lies in this little
corner of Shriners Hospitals for Children. I have witnessed many cases where
parents come here desperate, and sick with worry, after having been to countless
physicians and experts, but still searching for answers about what is wrong
with their child.  After a week here, we are usually able to give them the
answers they were unable to find elsewhere.  We can put a name to their condition, provide education, and sometimes treatment.

Other times, they come with a diagnosis, but no further information.  Due to the rare nature of the disease, no one else has been able to explain what is in store for them and what treatments are available. In a few rare instances, they come with a given diagnosis only to find, with relief, that it was misdiagnosed, and their child is actually a healthy boy/girl.  In all instances, we are able to give these families hope and a sense of security that there is someone out there to help their child.  We are currently involved in a study that is developing a possible treatment for a bone disease that has no treatment available.

Shriners Hospital provides us with a unique environment that we are able to give the patients we follow the comprehensive care that they need.  Families are so
thankful to be able to receive medical treatment, pain services, physical and
occupational therapy, orthotics, orthopedic consults, and dietary consults all
under one roof, in one visit.

As a mother, I cannot imagine being told my child has a disease that may lead to a lifetime of difficulties, or in some cases, even death, and that there is
nothing that can be done about it. To be a part of something that could change
that outcome for families is both amazing and gratifying. 

I have never worked with a team that is more dedicated to the patient population
they serve.  I am proud to be a member of the Research Center and to be a
part of groundbreaking discoveries and top notch patient care.

Karen E. Mack, LPN

Their smiles and laughter has all ways amazed me with each of the children.  Life has given them something difficult to deal with, but they go forward with each day coping beautifully.   I recall a 7-year-old girl, who over the course of her young life, needed to have her blood drawn frequently.  When it was time for her draw to be done here for the first time, we arranged for a Child Life therapist to provide what is called ‘distraction therapy,’ providing a distraction while the procedure is taking place through play or talking.  The procedure went very well and her mother was correct, she did extremely well.  But afterward I heard her tell her mother, ‘I didn’t have to pinch myself this time.’

Karen Clements

I started working here 22 years ago and have had the pleasure of meeting many children with rare bone diseases.  What I found to be unique about the Center for Metabolic Bone Disease and Molecular Research is our mission to make a difference in the life of each and every patient.  We obtain every outside medical record and work to find a diagnosis for each patient.  While the patients are here, the physicians meet with the parent(s) many times to ensure that we have addressed all of their questions.  The staff of physicians and care coordinators educate the parent(s) on everything that we know about the diagnosis.  If the
diagnosis has not been determined, the parents are assisted to obtain
medications and services that are useful to maintain or improve the quality of
life until the diagnosis is discerned.  We continue to research the
medical literature and never stop searching for a diagnosis.  I treasure making a difference in the life of each patient, one child at a time.

Tammie Snyder, LPN

It said that nurses make a difference in lives. As a nurse, I would like to turn
that statement around. Every week children touch and bless my life. Most nurses
get to help kids who are sick for one or two weeks. We have been blessed to
take care of kids that have had diseases their whole lives. These children may
have some sad circumstances, but nothing is sad about their lives. Some
children have never been able to run and jump like other kids, some kids have
brittle bones and a normal activity could cause them to fracture a bone, and
still others have never been able to walk. These children have smiles on their
faces with a joy that lights up the room. At the Research Center, we have seen
parents and children get hope for a brighter future. It is so exciting to be a
part of something that is changing lives for families not just in our local
community, but children all around the globe.

On Wednesday, February 29, hundreds of patient organizations from more than 40 countries worldwide organized awareness-raising activities and converging around the theme “Solidarity.”  The goal is to draw attention to rare diseases as an important public health issue and the importance and need for collaboration and mutual support in the field of rare diseases. Join with us in supporting rare diseases, because:  Alone we are rare, but together we are strong!