Emily

Emily 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.

It 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 “quite right.” We went 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.

Her 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.

The 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 two.

Nosebleeds 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.

Emily 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 to her.

She knows the consequences of a bad decision. Of course, we remind her each time she is leaving to go somewhere without us.

This website 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.

I 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. Every 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.

---

Emily 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. A few hours after she was born they noticed "purple marks" had developed all over her body. They called her the "blueberry muffin baby."

They kept 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."

When 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.

They tried 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. Our 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 around her

head, her 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.

Emily gets 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!