By Lisa Mayorga
Saturday, Sep. 17, 2011 | 12:00 AM Modified Fri, Sep 16, 2011 03:15 PM
My granddaughter, Annalou Bojorquez, was born at Clovis Community Hospital on Oct. 9, 2010, with an often fatal immune deficiency called Severe Combined Immunodeficiency or SCID.
At birth, Annalou weighed 7 pounds, 1 ounce, and appeared to be a healthy baby. Prior to leaving the hospital, she underwent all newborn screening tests that were made available to her.
In early November, my daughter, Elena, received a phone call from Annalou’s pediatrician, Dr. Harish Saigal, informing her that Annalou’s test resulted in an abnormal reading. He requested a second test be performed to rule out any abnormalities.
On Nov. 11, Dr. Saigal informed us that the second test resulted in a diagnosis of an immune deficiency called SCID. Annalou was the very first child in California to be diagnosed with an immune deficiency based on the newborn screening pilot program for SCID initiated in August 2010.
Dr. Saigal said she would require a bone marrow transplant and would be treated at the University of California at San Francisco. Her condition was life-threatening and it was imperative that she be isolated, free from contact of common infections that could be fatal for her.
At UCSF, we met Dr. Jennifer Puck who, along with the bone marrow transplant team, would treat Annalou’s condition. With Elena as the donor, Annalou received her BMT on Dec. 9, and IvIG treatments to help build antibodies in developing her own immune system.
In February, Annalou was discharged from UCSF. However, she was to remain isolated at home and received her treatments every three weeks at UCSF. Eventually, she was released from isolation, but we continued her care very cautiously.
In June, Elena received a call from UCSF informing her that Annalou’s treatment had been successful. Her “B” cells were fully functioning and no longer needed treatment. Annalou was totally “SCID free” at age 6 months.
Overwhelmed with joy, we cried, laughed and celebrated in thanksgiving for an answered prayer.
Sacramento Assembly member and pediatrician Dr. Richard Pan has written Assembly Bill 395 to make the SCID screening pilot program that saved Annalou a permanent part of California’s newborn screening process. We hope Gov. Jerry Brown signs AB 395 into law so that all California babies are protected from SCID.
Our experience with Annalou’s diagnosis has been informative yet gratifying to know that we owe her early diagnosis to the newborn screening. Had we not been informed so early in her life, it could have been fatal. We learned that children with SCID generally do not live past 1 year.
In addition, I am proud of the brave young mother Elena has become, by giving so unselfishly to her daughter. She is a great mom and they will share a close bond that will forever embrace them.
We are so very thankful to everyone who contributed to the wonderful care Annalou received at UCSF including Dr. Puck, Dr. Mortan Cowan, Dr. Christopher Dvorak, Dr. Biijana Horn, our social workers (Xin-Huan Chen, Amanda Kice, Anu Sood) and the awesome nursing staffs of the PCRC and BMT units.
Thanks also to the San Francisco Ronald McDonald and Family House of San Francisco for providing us with housing, moral support and friendship, to the March of Dimes for providing us with knowledge and a voice to tell our story, and most of all to our family and friends who have provided us with the love, support and many prayers that helped us get through the difficult time.
This cooperation has helped protect my family and I am hopeful the governor will sign AB 395 into law so that expanded newborn screening can help give more California newborns a healthier start to life.