Sebastian's Story

Sebastian Westfall is our 4 ½ year old son who has a rare genetic disease called Severe Combined Immunodeficiency (SCID). His form of SCID is linked to a deficiency of the adenosine deaminase (ADA) enzyme. Basically, Sebastian doesn’t have an immune system and is very susceptible to infections that wouldn’t harm healthy children, but could pose a serious problem for Sebastian and may even be fatal.

There is no cure for ADA-SCID. Sebastian’s current treatment consists of:
• PEG-ADA enzyme therapy, which means he receives a shot
in his thighs twice a week. This treatment fools his body into
thinking that he has the ADA enzyme that he is missing.
• IVIG every 4 weeks, which is an IV infusion that gives him the
antibodies that his body doesn’t produce.
• Multiple antibiotics.

He has responded to his current treatment, yet his T-cell count has continued to drop and there is a deep concern that if we do not take action soon, his health could quickly decline.

Future Treatment and Great Hope
Sebastian has been accepted to participate in a Gene Therapy clinical trial in Milan, Italy. The clinical trials have had good results for other ADA-SCID patients, and could potentially be a “cure” for Sebastian, although the researchers cannot say it is a cure due to the fact that the Gene Therapy trials are experimental.

We have not been given an exact date, but were told we could go in late Spring. We will need to be in Milan for approximately 6 months. We will be provided with housing near the hospital and Sebastian will be able to stay part of the time with us, however, when he is undergoing treatment, he will be kept in strict isolation in the hospital (approximately 2 months).