Saturday, July 30, 2011

How we found out Anna has EB....

After birth, Anna was in NICU for four days for her breathing trouble. When we took her home she had a small portion of skin missing from her chest where the heart monitor was stick. Even though we noticed that, we didn't care much about it as we were much happier that we could go home with Anna. So we didn't even care to note that to the nurse.
My mom was with us to help us with Anna. I didn't even know how to take a baby so it was great help having my mom here. Anna was doing almost fine. But she used to cry a lot during night. Sometimes breast feeding will calm her. Sometimes nothing seem to calm her. After a few days she got a blister on her right elbow. It was a like blister that we get when we get burnt. So we came into a conclusion that it is becauseof heat and it is the summer heat in Texas and her skin might be very sensitive to heat. So we start to put ac on.
She used to rub her elbows a lot when she cries that made the blister broke and caused an wound in her elbow. The next day she got one blister on her right ear, that also look similar to one on the elbow. We started to get concerned, but still thought of it being a heat blister.  And soon we started to saw some tiny blisters on her calves. She used to kick her legs together a lot.  We started to search all over Internet for a cause for this. What we found from Internet was it can be some kind of bacterial or viral infection which she might have got from her hospital stay. We got alarmed and finally took her to her pediatrician Dr.S.

Dr.S send us to a dermatologist and he said that it can be some knd of staff infection or it can be Epidermolisis Bullosa. We didn't hear this name clearely then and we didn't give any search for this too. Anyway to diagonize that he need to do a skin biopsy. We said we will check for the staff infection, if it turns negative we will opt of skin biopsy. Because I didn't want to hurt my baby unnecessarily. He took some cultures from her wounds and send us back home. But when we reached home we noted even more tiny blisters on her legs, it was like multiplying. We called Dr.S and she admitted Anna in NICU in the same hospital she was before.

They put Anna is a seaparate room to avoid spreading the disease to others. The doctors and nurses wear yellow plastic over coats and stuff and soon they put her in IV antibiotics. Since they were not sure about what infection she has they were giving all anti bacterial and anti viral medicines. And they took blood from her for testing. My poor baby she was crying and crying. We were all so worried and was not sure what is going on with her. I was crying all the time. They put her there and send us home. It was so hard on us coming home without baby.

The next day they talked us into doing another test on her, that is taking fluid from her spinal cord to test some infection. My poor baby went through a lot of pain. Most of the results of her tests started to come back negative. The doctors took pictures of her blisters and wounds and then send to a dermatologist. The dermatologist came on the next day and he was like most sure about what she has. He asked whether we have any history of blistering in any one of our family. We said no. Then he said it looks like it is Epidermolisis Bullosa. To diagonize that he has to do a skin biopsy. Okey. They got us into agreeing that. We went outside as we didn't have the courage of seeing our baby go through this horrible thing. It is like cutting a portion of skin out of her body, like the size of a penny. I could hear my baby screaming of pain. They said it will take about two weeks for the results to come back. Dr said most likely she has EB simplex, which is the least severe form. And he handed us over some print outs about this disease which had some horrible images. Even then I couldn't realize that this disease will be something this much horrible. Actually I was in the relief that she didn't have any infections.

My husband did some research on the Internet and he understood that this is something serious. He look so worried and when asked he told me what he found out. And even then I was comforting him saying that she won't be having any thing like that. I don't know I couldn't realize it then. When all the test results came back negative Anna was released from NICU with the possible diagnosis of EB.
After two weeks we had an appointment with the dermatologist and her biopsy result came back as Junctional EB.

Junctional EB is recessive which means both parents are carriors of a defective gene. And she got that defective gene from both of us. We are carriors and will know that we are carriors only when there is an offspring from us with this disease. There is 25% chance that baby will get this. My poor Annu got that bad luck. It is one of the severe type and has two types within it. Herlitz and non herlitz. To know which one she has we had to do a genetic test. Junctional EB is so rare that one in a million people gets that. She has a deficiency of Laminin 332. We did the genetic test on her and her mutation is never reported before. So they are not sure about whether she has severe type or not. But by looking at the mutation and protein they doubt it could be a severe type. Eventhough Anna had to pass through some difficult times she is mostly doing okey as of now.