The story of Maria
My name is Maria and I am the mother of four beautiful kids. Three healthy girls and my baby boy who is now 11 and was born with a genetic rare bleeding disorder or coagulopathy plus many other underlying problems. He is the only one with this diagnosis in the nation or America. We were told there are about 50 kids in the world with his condition, but all in Japan, Austria, India, and possible China.
He had a developmental delay due to weak muscle tone. He has no cognitive delays. He is bright, kind, pure at heart, and very strong and brave personality. He has suffered physical pain since birth due to many complications with his bleeds. He suffers bone dislocations; cuts with minor trauma; arthritis due to many joint bleeds; chronic fatigue; internal soft tissue bleeds caused by minor trauma or just spontaneous; and hypersensitivity to touch from all his body. Whenever he has bleeds, he has acute pain and many times cannot walk for long periods of time if his bleeds are on his legs. Or if they are on his arms, the pain is to extreme to even move.
He has had brain bleeds; head bleeds; arm; butt; legs bleeds and must visit hospital many many times throughout his life.
His platelets count is normal and is not missing any factors. There is no medicine to treat his disease. He wants to participate in sports like baseball or soccer but can’t because he falls easily plus at high risk of getting injured.
He started going to school in the second grade as I was afraid of his getting hurt. He fell so much and was constantly hospitalized that school was not an option. He cannot attend a large school setting because he is at risk of getting hurt. He is in a private school but must stop going as his fatigue is chronic and misses school so much he is always behind in his work and is hard to catch up, so he is failing. More than likely he will be home schooled during this fall.
He loves to be around other kids. He is friendly and very kind. Thoughtful and just an overall wonderful boy. He is currently in boy scouts but his activities are limited. He is very shy with adults, but outgoing and loveable with other kids.
I love my boy and I wish there was a group of something we could join so we stop feeling alone. And to bring awareness of his condition so people understand us a little better. Again, because his condition is rare is hard for others to understand what is happening. He is expected to behave and act just like any other boy in school and work in the same speed as others.
I truly believe he is losing interest and losing motivation as he is beginning to get isolated from many of the activities he cannot participate in. He is reaching puberty and hormones are kicking in.
I love my boy and wish there was more I could do for him.