Daniel, Eliza & Luke

Our three children, Daniel 6 years, Eliza 2 years and Luke 9 months, all have Glanzmann's. Although this disorder is found in those who have married relatives(consanguineous), my husband and I are not related to each other as far as we know.We do share the same Dutch ethnicity, however. Our saga begins in 1996 when our oldest son Daniel was born. After a normal labor and delivery, Daniel was covered with bruises on his back and petechiae in his groin. At the time, we were told it was from trauma related to the birthing process. After his circumcision he oozed blood for about 4 hours. At his 2 month checkup, he had his immunizations.

I took him home and noticed that his pants were blood soaked. That incident got us a referal to our hematologist who ordered blood work. The results were disappointing, but it was a relief to finally have a diagnosis.

Daniel has been hospitalized many times for nosebleeds, the first one at 2 years. I didn't see any bleeding, but noticed black, tarry stools. Platelet transfusions have worked every time except once. Besides the occasional nosebleed, his gums bled when his teeth came in. Many times blood goes down his throat and thus, I don't know he is bleeding. Sometimes it is very difficult to manage a nosebleed. We have had nasal cauterization, packing, novo7, fobrin glue and 2 platelet transfusions for one episode.The bruising is mostly cosmetic. I have noticed that if he bruises his joint that it is very painful for him. He even refuses to walk if he has injured his knee or ankle. X-rays have determined that thes were just soft tissue injuries. Well-fitting shoes help keep him from twisting his ankle. Additionally, recently he has incurred his first GI bleed. This was also resolved with platelet transfusion. I have learned to asses him very carefully. His color and activity level,also his odor as GI bleeds stink. I check his nose and throat every day. We try to raise him as normally as possible. He is a friendly, outgoing little boy and takes all this bleeding quite well. At home I have Amicar and neosynephrine on hand, to use as needed. He also takes iron orally. Although the stress of living with a chronic condition can be overwhelming, we've made it so far-and I am still sane! Our other 2 children also are afflicted, but fortunately don't have a big history yet!