Why my baby has to suffer this much?

Anna is not feeling well for two months now. Issues after issues.. she was doing fine and our life was "normal" despite her condition. Just that we had to treat her skin and wounds. She got more break down on her face and bottom also. Now it is more than skin, she is getting recurrent corneal abrasions. I am afraid how it is going to affect her. If one week she is fine, the next week she will get it again. And we guess it is because she rubs her eyes at night. If she get one, she won't open her eyes for three to four days. And more painful thing is she won't eat anything. Her weight gain is already very poor.
All her doctors are pushing for g-tube. We are refusing it just because we don't want to put her through surgery and then knowingly another sore on her body. And I am sure that she will pull on that tube and cause more problems. Can u imagine she is 19 months and just weigh 18.5 lbs. She is out of her growth chart. and another fact is from last December she weighed only 2 pounds.. yaa.. that is true.. just two pounds. This last week she hit to 19 lbs and now dropped to 18.5 pounds.

She got corneal abrasion on Monday. And not eating much from that day. So sure that her weight must be dropped below 18. Now again doctors are going to talk about g-tube..She hasn't opened her eyes today morning.

What a horrible disease is this.. Not a single peaseful day for two months now. Daily some new problems. My poor baby is going through tremendous pain. Can I blame her for being angry or cry to take her up to rock her several times during night..  Now every day is a struggle. Don't know what will happen tomorrow. Life is now unpredictable. Life is becoming more and more difficult. If it is just skin that this disease is affecting, I would  be happier. Now it is every where, her breathing, her eyes, her growth..... This is doing more damage to her body daily. Just imagin pain from her finger tips to her eyes to her throat to her entire body.  how can this be? Why my baby has to suffer like this?

When will be an end for her suffering? I still have a little hope left for my baby to have a normal life. I am afraid to think about future. I am only thinking about a brightful future. One day my baby can wear beautiful dresses like other kids without worrying about seams or buttons or elastic, one day she will get many friends and play with them without worrying about hurting, one day I can talk to others about her without holding a tear that starts to roll from my eyes or hiding the pain I feel in my heart..one day I can take her to everywhere I go, one day I can pick her up how others pick up their kids...When will this be.................

If some one reads this please say a prayer for my baby...thanks

Therapy to 'switch off' defective genes which causes skin blistering!!

Here is a news about a new research that is going on in UK to cure EB.
Therapy to switch off defective gene which causes EB

This looks less riskier than BMT given that it is the patient's own corrected cells are being transplanted back to the body. They are yet to find a way to transplant it back.

I am thankful that at least I can see some hopeful news once in a while.

But I always wonder that why can't someone find a way to give the protein that is missing in these patients as a medicine or a medicine that helps to generate this protein. In Anna's case she had lack of protein called Laminin 332. For other gene related problems there are alternative ways to solve that. For example, Thrombosis, it is because of gene defect, protein-s deficiency. Because of this protein defect, one's blood will clot too fast. The solution for that problem is use a blood thinner like Heparin injections or take aspirin tablets by mouth. Why can't someone find something like this for EB.

I also read somewhere that for EB simplex, the missing protein, Keratin, can be increased by using a substance in Brocolli. Why can't people do research on these. Is there any food that
gives Laminin 332. Even for Collagen, another missing protein in other forms of EB also is
well known, which is used for anti aging formulas. But I can't find any information about
Laminin. By can't people do some research on these things to save life of these babies??

BMT to cure EB in Vietnam !!!!

This is exciting to know that researchs are going on around the world to find a cure for EB.
I just found a news that Vietnam done it's first bone marrow transplant to cure an EB baby. The results looks promising. Please see below.
http://www.thanhniennews.com/2010/Pages/20111028-Vietnam-cures-first-blister-patient-with-marrow-transplant.aspx

There are several bone marrow transplant done in the US to cure EB. But the procedure for that is very risky and doctors are trying very hard to make it in less risky way. Now that this is been done on other countries as well, I am sure that there will be some hope soon.

If BMTs are becoming less risky, then it can be considered as a treatment option. Hope we will get some treatment within 5 to 6 years. The soon we can provide a treatment for Anna the better. Because the damages that EB causes to her body will be minimal. I thought to update the news right away, because This news gives me some hope to get a cure for Anna in the near future!!! Back to sleep!!! Then goodnight!!!!

Corneal abrasion

Last week was horrible. Anna got corneal abrasion on her right eye for the first time. My poor baby was in severe pain. Wednesday morning she was not opening her eyes even after we woke up. She didn't even open it to wave TATA to us. Just said bye bye. We thought she may be tired and want to sleep more, but I had this strong doubt that she got some problem with her eyes. This is a thing that I was always afraid of. Friday we took her to pediatrician and then to eye doctor. Eye doctor was not experienced with EB but he was very gentle with Anna. When he tried to open her eyes to examine it, I was begging him to be very gentle with her. But he was very calm and did a good job. He put dye on her eyes to examine it and said that there is a scratch on her cornea, but it was already started to heal. He gave some medicine to put on her eye and asked to come back on Monday. He said by that time she will be fine. Last Saturday and Sunday was the worst days ever. She was not opening her eyes at all, whenever she open, tears will start to flow. And was very sensitive to light. We switched off all light, put curtain on all windows. The worst part is she was not eating or drinking anything. She won't sit down or lay down. I was carrying her all day long by rocking her. Monday also she was not opening eyes well. Doc asked to continue medicine until Wednesday and we need to go back on check up. By God's grace she is doing okey now. Wish, I could sit near her all night to prevent her from rubbing her eyes again. I can't imagine how much pain my baby is going through.

Whenever it hurts somewhere or itches, she will ask us to apply Aquaphore. Poor baby, she is thinking like all her pain and boo boos will go away with Aquaphore. If we say that we have some pain or some one coughs she will offer Aquaphore. She is a such a caring and loving baby. Wish she don't have to face such horrible and painful things any more. God please keep her safe this night and every night to come. I am so thankful for my baby. She is truly a blessing. I love you my Annu.

Telling others about EB!!

This is always a difficult job to explain some one about what Anna has. When I say that she has skin disease the first response comes is, oh it is just skin, it will go away. Okey. I don't bother to explain it too. I don't want anyone to know that my baby has this devastating disease. I don't want anyone know that we are struggling with this disease. I dreamed about having a health baby, showing my baby to everyone, taking her to parties, going trips, going to church together etc etc. Lot of dreams. But this disease shattered all my dreams. I can't even share a good photo of my baby with any one. Yes I have a baby with disease I should accept it. But I can't, I am living in a hope that soon she will get cured, her disease will go away. May be by miracle or a cure, then I can show her to the world. How soon it will be I don't know, how long I can keep it from others I don't know. I still can't agree that she has some disease that is not curable. I belive truly that there will be a cure soon..

Only very few best friends and our closest family know that she has this disease, others know that she has a skin disease. But they think like it is a temporary thing and will go away. I don't have the courage to tell anyone about this. The most frightening thing is the images they get when they search in Internet. At my work, none of the poeple no that she has EB. Well, no one asks me about the disease's name. No one wants to know more about it, then why I should bother about explaining what she has. Even if I explain there is no use. No one understand anything about how we are struggling daily, mentally and physically. When everyone ask how is Anna, I will say ' she is okey' I will never say 'she is good'. Because she is not good. She is always in pain. She always gets one problem after another. If she is happy one day, the next day she will get some problem.

Another reason I don't volunteer to tell is that I don't think I can work comfortably with them after that. Now that no one know about this, I can forget about EB and work peacefully at work and come back home and worry. Well, not peacefully, at work also, if I am not busy will be always thinking like, does Anna eat anything, is she breathing well, when is her next dr appts, what phone calls need to make for her insurance, supplies etc,

I know one day I need to tell this to everyone, one day everyone will know that she has EB. But could I be able to tell that Anna had EB and she is cured and is doing fine now??? let time tell.

But nowadays I have this strong feeling that I should do something to let everyone know that there is a disease like this. There are babies born in pain and is living in pain. I think I am slowly getting strength to tell world that Anna is battling with EB. At least this blog is a starting point.

Thank you mom!

Today I would like to thank my mom for what she has done for us and for Anna.
My mom was at our side since Anna's birth. She has seen Anna's ups and downs. She has been staying with us for six and half months now to help us with Anna. Mom is going back on next Saturday to her home at NY. My words are not enough to say thank you to both of our families to helping us with this difficult situation.

My mom first came to help me with Anna's birth thinking that I will have a healthy baby. I wanted her to be by my side because I was so afraid of delivery and handling a new born. So my mom came over before two weeks of my due date, in March second week. I had a c-section, so mom was taking care of Anna day and night and me. I had to go back to work after 8 weeks. And my husband was a full time student and was working part time at school. Mom stayed with us till August end. Anna had a severe break down during 3rd and 4th months. My mom is the only reason Anna is alive today and as good as she is now. During third month she started to blister severely in her two arms and legs and on her bottom. We were not even able to take her and Anna didn't want us to take her either because of the tremendous pain she is in. I knew very little how much difficult it was taking care of her. Even the diaper changing was very hard on her and the daily dressing change. Thank God for sending my mom for our help. I don't know what I might have done with out mom's help.

By the time my mom went back Anna was completely healed and was stable. My mom always used to say that she want to leave after Anna completely healed so that I will be able to take care of her. I don't know how much I could thank you mom. After my mom left my husband's parents came and helped us taking care of her for 5 months. They left in January and my mom again had to come over. There was no other way I can go to work and take care of Anna. You may think that why couldn't I leave work. One of the reason was my husband was a student and my insurance was paying for Anna's medications And dressing and we had other problems as well.

Both times my mom came resigning her job to help me. I know everyone will think like that is the stupid thing to do to leave the job, but we really needed her help because of many reasons. I am so so thankful for my mom for her sacrifices and also to you pappa for letting my mom come and stay with us. My pappa was juggling with work and home alone. This time mom has been staying us for 6 and half months now.. Thank you so much mommy for your help. You are truly amazing and I mentioned you before you are an angel who God send to help Anna. Of course, both of our family are supporting and helping us. But I need to give her so much more credits, for her sacrifices, being day and night by our side helping with Anna from her birth, taking care of me after delivery and so much and so much. Mommy I love you I love you so much. You are the reason how I am capable of taking care of Anna now, you are the reason Anna is alive and good today, you are the reason Anna started walking.

Thank you mom for being my side. Thank you God for my mom. Thank you God for both of our family!! Anna you are blessed to have loving grand parents.

Anna I promise I will be by your side day and night like how my mom helped me....

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.