Isn't she just precious?

I was looking through the albums and I found these cute photos of her when she was 14 months.. In the second photo she is answering do you love your grandmother(my mom)? haha it was very funny.. After a few days she forgot to show this....We should have video taped this.... :-)

Why she gets corneal abrasions for two months now?

Anna managed to open her eyes yesterday evening after holding it closed for three days. Her abrasion started on Monday morning. While she was playing, just closed her eyes and cried in pain. This happened for couple of times on that day. But she was doing fine. She must have rubbed her eyes again on Monday night, Tuesday morning was not able to open her eyes, but still managed to open occasionally. From Wednesday not opening at all. Thursday we took her to a new eye doctor who has experience with EB, hoping to get some advice on how to prevent corneal abrasions, even though that doc is out of network of our insurance. Her current doctor is fine in check up and giving medicines, but he won't even hear our questions or give any advice. He is always in hurry and he is not familiar with EB, so he might not know how we are suffering. This new doc gave the same medicines but one extra lubricant to put at bed time.


The reason he think is, in EB, eyes are just affected as the skin. After sleeping through night, if the eyes are dry, it can get stick to eye lid and just opening eyes in the morning can tear the cornea. It seems to be a valid reason, I have read about it for other EB patients. Afterall the protein, laminin332, the one she is lacking is the one that plays a vital role in eyes. She was having this severe constipation for two months now, that from an Ayurvedic medicine we tried to prevent Anemia. But that gave her blistering on her face as well. That also I believe because of skin getting dried up, despite the lubricants we apply several times a day. That may be the same reason her eyes got dried up. She is getting this corneal abrasion only for two months now. And then her usual rubbing might have caused the already teared area to tear some more. So I am thinking that it is not just her rubbing that caused it. Because she has been rubbing her eyes from birth. It used to give blisters to even her eye lid, but never inside her eyes.

I couldn't find the reason of her sudden blister outbreak on her face, her face otherwise was almost fine. I tried stopping oatmeal and wheat cereals, changed formula, but never doubted this medicine for anemia until recently. Usually not much after effects of using Ayurvedic medicine and she is taking other ayurvedic medicines for wound healing and breathing for more than one year without any issues. She got this problem, I guess because of her poor water intake. When we stopped the medicine last week, her constipation went away, facial blistering stopped and it is healing by God's grace. So hope that this change and putting the new lubricant on her eyes will prevent new abrasions.

Corneal abrasion is a worst thing to happen for Anna and to us also. I need to carry her rocking in sleeping position all day and (several times at night too). She won't lay down or allow me to sit either, I am totally exhausted after 5 days of carrying her, despite my MIL carrying her sometime for me to take a break. But after seeing her opened her eyes and do her usual plays just melt my heart. Mommy's sweet baby..
She is still watering from her eyes. Think it will take a couple more days to completely heal. Yesterday my husband and me were taking shifts at night to guard her from rubbing again. God, she is rubbing her eyes a lot. I hold her hands so many times.This is after giving Atarax at night for itching.

Praying to end this corneal abrasion episode. This is one of the worst thing to happen in EB.
Thanks everyone for praying for my baby!!..

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??