Before you read on, make sure to read Part 1 and Part 2 of Cristina and Isaiah’s story. In Part 1, Cristina discusses Isaiah’s GA-1 diagnostic journey and some of her favorite memories of her son. Next, Part 2 discusses the fight for additional help and the search for a second opinion. Finally, today, Cristina remembers her son, offers advice, and dives deeper into what GA-1 is.
Isaiah was intubated; the next day, doctors put him into a medically induced coma as his lungs became fragile. Isaiah’s body had fought as hard as it could; however, he had been fighting multiple medical issues and he couldn’t keep it up. Isaiah passed away on December 6, 2010. Cristina says:
“When I was told that Isaiah had passed away, my heart felt like it stopped and dropped. In a blink of an eye my entire world suddenly disappeared, and I was left with this overwhelming sense of emptiness. Something in me died when I saw him that day and when I was forced to leave him. Going home without him was devastating. I felt like I couldn’t breathe or function, like I had no purpose in life anymore.”
To cope with the pain of her loss, Cristina leaned heavily on her mom and husband. She doesn’t think that she could have handled it without them. Grief takes time; it never disappears, it never stops; it just becomes softer over time as you must learn how to live with the loss. She shares:
“As hard as it seemed and as much as I didn’t want to, I had to accept and learn how to live without him physically, but his memory will always live with me. To this day, I still grieve for him. It took me a long time to forgive myself. Even though I know I fought for him the hardest and the most, I still feel guilty for not being able to do more to save him. I could see he was tired and was being strong for me. We were strong for each other. But now he has no more pain.
Regardless of everything we went through Isaiah always kept a smile on his face. He was the strongest and bravest little boy. He made me realize the things we take for granted every day, he showed me endless and pure love, he made me the strongest, he made me a mother, and left this empty hole in my heart, until we see each other where flowers always bloom; I will hold his memory close forever.”
To other parents, Cristina stresses the importance of research and advocacy. She encourages others who have received a GA-1 diagnosis or any other rare disease to research as much as possible, learn what the disease is, and understand it. When it comes to seeking medical help, she also advocates for parents to ask questions and find support:
“Ask questions until satisfied. Seek second opinions if you need. Always follow your gut feeling. Even when doctors assume that they know better, remember that nobody will know your kids better than their mother. And when you’re feeling overwhelmed, remember you’re only human and you’re trying as much as you can; find a support group who can be there when you need them.”
What is Glutaric Aciduria type 1 (GA-1)?
Glutaric aciduria type 1, which may also be referred to as glutaric acidemia type 1, is a rare genetic metabolic disorder in which the body is unable to process certain amino acids (building blocks of protein) due to inadequate enzyme levels. This results from GCDH mutations. Cristina explains:
“Everything we eat contains protein in different levels. In GA-1, the body cannot process this, meaning these amino acids build up in the blood. Ultimately, this causes ‘crises’ or episodes which may be characterized by seizures, lethargy, and brain damage. If left untreated, GA-1 can cause coma and even death. However, there is no guarantee that a child won’t have a crisis, even after treatment. With this disease, everything they eat has to be measured and they have a very special diet including specially-ordered and very expensive formula.”
Symptoms vary from person to person. These symptoms can (but do not always) include:
- Hypotonia (weak/poor muscle tone)
- Developmental delays
- Difficulty moving
- Muscle spasms or rigidity
- Macrocephaly (large head size)
- Frequent vomiting
- Bleeding in the brain or eyes
Stress, caused by fever and infection, could cause worsening GA-1 episodes. Therefore, reducing stress can be extremely beneficial.