is a typical 14 year old with Glanzmann’s Thrombasthenia
(GT). She leads a very busy life, loves to hang out with her
friends and is involved in Girl Scouts, color guard and belly
dancing. She generally doesn’t allow GT to interfere
with her activities. Her biggest issue right now is having
to wear a helmet for activities, such as roller blading, when
no one else is. This is the only time she feels “different”
from her friends.
all started when she was a few hours old. She developed
“purple marks” all over her body. The doctors
and nurses referred to her as the “blueberry muffin
baby.” After an eight-day hospital stay and numerous
tests, including a biopsy of one of the marks, they still
couldn’t diagnose her. They sent her home advising
us to keep a close watch because something wasn’t
home, settled in and didn’t think too much about it
until she was one month old. One day her ear started bleeding
and wouldn’t stop.
pediatrician examined her and sent us home with some cotton
packing in her ear. Two hours later when it was still bleeding,
Emily was admitted to our local hospital. Shortly after arriving
they drew a blood sample. When the tourniquet was tightened
on her upper arm she immediately developed petechia, small
reddish purple spots, down to her fingers. They tried the
other arm and the same thing happened. I’ll never forget
the look of surprise on the nurses’ faces.
bleeding finally stopped after about eight hours, but they
couldn’t find a reason why this was happening so they
referred her to Children’s Hospital of Philadelphia
(CHOP). The Hematology Department was finally able to diagnose
her with Glanzmann’s Thrombasthenia.
Now we had a diagnosis, but this was little
comfort, as they couldn’t provide us with much information
on what this was going to mean for her or how we were supposed
to treat it. We felt alone and confused.
She frequently experiences gum bleeds and
soft-tissue bleeds behind her knees. Gum bleeds are mostly
annoying and messy, but do not require medical attention.
Her soft-tissue bleeds make her leg stiff and she is unable
to straighten or bear weight on it. It can be very painful.
When she was younger she would ignore them until she couldn’t
tolerate it anymore and would end up on total bed rest for
up to a week. Now that she is older she has learned that
if she stays off it right away she is better in a day or
and throat bleeds have caused the most trouble. She has been
hospitalized four times due to nosebleeds and three times
due to throat bleeds. They first time she experienced a nosebleed
that wouldn’t stop was the worst as we were inexperienced.
We kept calling CHOP and the hematologist on-call (who didn’t
have any experience with GT) kept advising us to keep giving
her Amicar and wait. By morning, we knew she needed to get
to the hospital. Upon arrival her hemoglobin was 5.0 (average
is 12.0). After that experience, we learned to follow our
own instinct on when to take her to the Emergency Room.
She has received a total of three platelet transfusions
in her life. This has always been scary as you worry about developing
antibodies. We only use them if we feel there is no other option.
Emily had an allergic reaction to blood products twice, so now
she must be pretreated before receiving them.
Bruises are a way of life. At times they are painful.
When she was little I would examine her every day and try to figure
out what caused every bruise. Now I rarely notice them. I used
to get upset when I would notice people staring at her. I would
welcome a question as it gave me the opportunity to explain. It
would anger me when I would see people point and whisper. As Emily
has gotten older her bruising is less severe. Occasionally she
still gets a huge one. At this age, she seems to enjoy the shock
factor of it and usually shows them off with pride.
I used to
panic at the first sight of blood. My pediatrician will tell you
she received many unnecessary calls from me the first year, I
am grateful she was so patient with me. We have learned with each
new experience to hope for the best, but prepare for the worst.
We have learned to trust our instincts and have become confident
in our decisions when it comes to treatment. Through experience
we have become her strongest advocates and are not afraid to question
or disagree with a recommended treatment.
is at an age where she is learning to manage her own care
and we have been letting her decide what course of action
she wants to take when having a bleed. She dislikes medicine
and will wait as long as possible before using it. She generally
chooses to ignore the bleeding and go about her business as
usual until she is forced to deal with it. She is starting
to do more things without constant adult supervision. I have
been asked if this worries me, as I won’t know if she
is being careful. All I can say is we have provided her with
the knowledge she needs to make smart choices and it is up
the consequences of a bad decision. Of course, we remind her each
time she is leaving to go somewhere without us.
has been a blessing to our family. It has brought wonderful people
into our lives and has provided us with so much support and invaluable
information. Although everyone’s experience with GT is different
and their reaction to treatment is different, it is tremendously
helpful to learn from each other’s experiences.
am so grateful that Emily has the opportunity to meet
so many people with GT just like her and I think it is
important to for her to see adults living full lives,
in spite of having GT.
now and then I will think to myself how I can’t
believe GT is part of our lives, but then I thank God
it’s not a million other things that would affect
Emily’s daily life so much worse. I am so proud
of her for living life and not dwelling on the fact that
she has a rare blood disorder. Sometimes when I have to
remind her to be careful because she has a blood clotting
disorder, she’ll say, “Oh that,” and
continue on with her life.
is an energetic seven year old with Glanzmann's Thrombasthenia.
When I talked with her about writing this story to tell
people what it is like living with GT she said, "It's
really not that bad." I am amazed by her acceptance
of it. We have always explained it to her as having "special"
blood. I think I have a harder time dealing with it than
she does, then I realize if she can be strong so can I.
hours after she was born they noticed "purple marks"
had developed all over her body. They called her the "blueberry
her isolated in the hospital for eight days. Numerous tests were
done on her, including a biopsy of one of the purple marks, but
still did not come up with a diagnosis. Her bleeding times were
prolonged, but the counts were normal. Finally they sent her home,
but our pediatrician said she would keep a close watch on her
because she knew "something wasn't quite right."
Emily was one month old her ear started bleeding. I couldn't
get it to stop so I called the pediatrician. She examined
her, tried to stop it and sent her home. Two hours later it
was still bleeding so Emily was admitted to the hospital.
When we arrived at the hospital they needed to take a blood
sample. The nurse put the rubber tourniquet around Emily's
arm and it immediately broke out in purple marks, called petechia,
down to her fingers.
the other arm and the same thing happened. I will always remember
the shocked look on the nurses' faces. After about 8 hours they
stopped the bleeding, but still could not diagnose the problem.
They referred her to Children's Hospital of Philadelphia (about
and hour and a half away from our house) where the Hematology
Department finally diagnosed her with Glanzmann's Thrombasthenia.
The scariest part of this was even though we now knew what she
had, they gave us little information on what to expect or how
to deal with it.
We learn as
we go. Each new experience teaches us how to handle it
if it happens again. I have learned not to panic at the
first sight of blood and that a small amount of blood
looks like a gallon when it's coming from your child.
first "scary" experience came when Emily was
about 6 months old. I was playing with her and she fell
against me and cut her lip on my necklace. It started
bleeding. I thought I had gotten it to stop before putting
her to bed. When I went to wake her up the next morning
I was horrified to see the ring of blood on the sheet
hair matted down with blood and her face and hands covered in
dried blood. I panicked and yelled for my husband. He picked her
up and she smiled at us! What a sight that was.
terrible nosebleeds. The blood flows out of her nose and down
her throat at the same time. At times to the point where it causes
her to choke. These were scary at first, but like everything else
we have developed a system on what to do, stay calm and get through
it. Every time a bleeding episode begins you wonder if this is
the one that isn't going to stop. Emily has been hospitalized
three times for bleeding in the throat. These were stopped with
the use of Amicar. She was hospitalized once for bleeding in the
soft tissue behind the knee. Emily has been hospitalized twice
for nosebleeds. These were so far back that the blood wasn't coming
out of her nose, but going down the back causing her to spit out
blood every 2-5 minutes. This lasted at least 24 hours both times.
She needed to receive one unit of platelets the first time and
two units of platelets for the second episode. Emily had a reaction
to the transfusions. Her blood pressure dropped very low, her
heart rate went up and her body shivered uncontrollably. We now
know to tell them they must pre-medicate Emily with Benadryl and
Tylenol before giving her blood products. She needed to receive
a red blood cell transfusion for the first nosebleed as her hemoglobin
dropped to 5.0.
There are always bruises.
It upsets me to see her body covered in bruises. Emily accepts
them as part of life, even the sore ones. We can usually count
on her having a black eye or some bruise on her face for important
events or photos. I see people stare at her bruises, luckily Emily
usually doesn't notice. I hope as she gets older this won't bother
her too much!
If you ask Emily what
the worst part of having GT is for her she will tell you its NEEDLES!"
This is her biggest fear when she has to go to the hospital or
for a checkup, which are every four months at CHOP. Like everything
else she manages to get through them. We tell her it's okay to
cry. She has earned that much!
In the beginning
we didn't know what to expect. Some of it has been better and
some of it has been worse than what we thought. So far it hasn't
restricted her from doing too many things that she would like
to do, she just has to be a little more careful and a little more
protected than the other kids. I worry about things Emily will
have to face as she grows up. I am extremely grateful for the
research that is being done and hopeful for her future!