A little girl with Junctional EB
(written by her mother)
Mahi Shiroor my daughter who is now 7 years old. Was a result of a normal smooth conception and delivery.
She was perfect on the epgar scale after birth and no signs of blistering for the first 2 days after birth.
As friction increased, and since we had no clue why her skin was peeling, situation worsened and later diagnosed as EB(The subtype still inconclusive)
She seemed to have a hard time breastfeeding for longer durations and we diagnosed she has Acid reflux since she was vomiting milk quite often.
Gradually her breathing got hoarser and we took her to an ENT when she was 3 months.
She did cry and still made normal sounds, but there used to be a depression in her neck while she was breathing.
It was diagnosed as upper airway stenosis after they probed her through the nose while she was still awake.
By the time she was 8 months old, after bouts of cold and frequent vomiting, she seemed to have even harder time breathing and now her stomach would compress while breathing and even solid food came out easily, since she couldn't breathe and eat at the same time.
So, when she was 1 year 6 months, we had to do tracheotomy, since her opening of the trach had completely closed with just a tiny hole.
She has been a happier person ever since then. Her vomiting gradually reduced. her weight stabilized with just little ounces at a time weight gain.
Now at the age of 7 years and 4 months, she does everything a first grader does, with constant supervision of her trach.
So far no invasive surgery has been tried. The doctors hope the trach might get bigger with age and they might be able to work on her sometime.