Before you read on, make sure to check out Part 1 of Cristina and Isaiah’s story. In Part 1, Cristina shared the diagnostic odyssey and fight for answers that led to Isaiah’s GA-1 diagnosis. She also offered some of her favorite memories with her son. Today, in Part 2, Cristina discusses how she fought for help for her son. 

Fighting for Help

Their situation changed again in July 2010 when Isaiah presented with a rash across his body. As the rash worsened, Cristina noticed that her son was once again regressing. She was concerned, especially as her specialist had not sugar-coated any information and explained what could happen after children continue to decline. Says Cristina:

“With GA-1, any sort of infection—even as simple as an ear infection with a fever—could be very damaging and even lead to death if not given proper treatment. Immune defenses are low constantly affecting health. After the rash began in July, I was concerned about what it meant for Isaiah’s health. He began having inflammation all over his body, losing almost all eyesight, developing skin marks on his face, and losing his hair.

I felt like no doctor could help me because nobody knew about GA-1. Nobody could figure out what was causing these symptoms. His doctor continued to insist that it was his diseases taking over and that he was doing as much as he could. I begged for a second opinion in El Paso because as a mother I knew more could be done, but his doctor wouldn’t release his files and sign authorization for a referral out of town.

Even though I had asked for this second opinion and transfer anywhere out of El Paso before that rash even begun, he ignored my concerns and sent my son home, stating that it was part of GA-1 and there was no intervention to be done even though he looked physically ill and in need of medical attention.”

Cristina was devastated. She felt hopeless; every time she watched her son suffer, her heart shattered a little more. The frustration from her doctor’s lack of effort and knowledge drove her crazy. Even as Isaiah celebrated his second birthday, she felt as if she was losing her son and was in disbelief of how doctors in the hospital were unable to help.

Pursuing a Second Opinion

In her desperation, Cristina walked into a random pediatrician’s office and begged for help. As she tearfully explained to the doctor what was going on, the pediatrician decided to immediately hospitalize Isaiah for his low oxygen levels and simply for how physically ill he looked. More importantly, the doctor connected Cristina to two specialists in Dallas. She was able to fly out in two weeks and get the medical attention Isaiah required. Cristina shares:

“As a mother, I felt horrible for trusting his initial pediatrician; we grow with the influence that doctors know best, and we trust them to place our loved one’s health in their hands, hoping for the best. Going to Dallas felt like a step in the right direction. While in Dallas, Isaiah began progressing and looking better, although still waiting on multiple blood work to come back. I found hope again.

Then his testing and bloodwork begun, but Isaiah’s condition began to deteriorate. We had only been in Dallas for two weeks. His blood work came back positive with RSV and pneumonia, vitamin deficiencies, and much more. Unfortunately, this virus progressed to the point that required critical medical attention.

Join us in Part 3, the final part of Cristina’s story, as we remember Isaiah and his memory. Cristina offers advice to other families, and we also dive more in-depth into what GA-1 is.