Introduction & Update

For those who don't know; here is Leah's story:

On February 10th of 2009, Leah Elizabeth Turnquist was born. Upon birth it was noticed by the doctors and nurses that she had some unusual blisters on her skin, fingers and toes. She spent 6 days in the NICU where her blistering got worse & where the medical staff didn't know what was going on. By the time she was released we had learned (mostly through our own research) that Leah has a skin condition called Epidermolysis Bullosa. It is very rare and incurable.

We took Leah to see a dermatologist who is an EB specialist. Based merely on sight & without a biopsy, the doctor said Leah had a mild case of the least severe form of EB: EB Simplex. For almost 6 months we watched Leah's skin improve, while her breathing got worse. Week after week passed with Leah being congested. I dusted and vacuumed like crazy to avoid dust around her. We rehomed our dog & I had to let our cat be taken to Cat Camp (i.e. my sister's house) to see if maybe it was all allergies. Every doctor Leah saw told us there wasn't anything to be done other than placing her next to a humidifier while she slept, use saline in her nose, and elevate her head. On July 9th, Leah's congestion turned to wheezing and we made a trip to the ER. The ER visit turned into an overnight stay in the PICU where her breathing did improve. But, around 6 PM on July 10th Leah went into severe respiratory distress. Jeff and I had to leave the room with the social worker.

Several different doctors tried to get a breathing tube down her throat but couldn't do it. An emergency tracheostomy was performed while Jeff and I cried, prayed and had no idea what was going on.

While in the hospital healing from the trach, the dermatologist performed a biopsy. The results that came back were not what we wanted, but were somehow what we expected: Leah has Junctional EB. Junctional EB involves both the external (skin) and internal (airway, for example).

Junctional EB does not have a very good prognosis. Most babies with JEB do not make it to their 2nd birthday; most often because of airway issues, infection and malnutrition.

We are hoping, of course, that Leah beats those odds but at the same time we must look at things from a realistic perspective in order to prepare for what may happen.

For now, Leah is home from the hospital (YEA!!!), eating well from a bottle (24 oz yesterday!!), has no feeding tube, and is alert, happy and well, just being Leah.



Last Sunday, we had Leah baptised here at home with some of our family and friends.




So there you have it: a mini introduction and general update on where we are now.