Tennessee Mother Advocates for Rare Disease Awareness After Sons’ SMA Type 0 Diagnosis
Amanda Giddens, a dedicated mother from Tennessee, is raising crucial awareness. Her campaign focuses on Spinal Muscular Atrophy Type 0 (SMA Type 0). This is a rare and often fatal genetic disease. Both of her young sons have received this diagnosis.
Preston, now six years old, and Luke, aged four, both live with SMA Type 0. Their mother shares their story. She hopes to inform other families and medical professionals.
Understanding SMA Type 0
Spinal Muscular Atrophy Type 0 is the most severe form of SMA. It is a genetic disorder. It impacts nerve cells in the brain and spinal cord. This leads to profound muscle weakness. Babies with SMA Type 0 often struggle from birth. Symptoms include poor muscle tone and difficulty breathing. Feeding issues are also common. Without intervention, many infants do not survive past their early months.
Preston and Luke’s Journey
Preston was diagnosed at two months old. His mother noticed his lack of muscle tone. Doctors initially offered palliative care. However, Amanda advocated fiercely for treatment. Preston received Zolgensma at three months. This is a pioneering gene therapy. Today, Preston attends school. He uses a wheelchair and a feeding tube. He communicates effectively using eye gaze technology.
Meanwhile, Luke’s diagnosis came much earlier. He was diagnosed at one week old. This was possible due to his brother’s condition. SMA screening was conducted shortly after his birth. Luke received Zolgensma at three weeks of age. This early intervention was critical. Luke, now four, also uses a wheelchair and feeding tube. He communicates using specialized switches. His earlier treatment led to better outcomes for his muscle development.
The Impact of Gene Therapy
Zolgensma is a revolutionary gene therapy. It works by replacing the missing or faulty SMN1 gene. This gene is vital for motor neuron function. The therapy can significantly alter the disease’s progression. It can improve muscle strength and function. However, the treatment is incredibly expensive. Access relies on insurance coverage and early diagnosis.
A Mother’s Advocacy for Newborn Screening
Amanda Giddens actively campaigns for widespread newborn screening for SMA. Early diagnosis is paramount. It allows for prompt treatment. This can drastically improve a child’s prognosis. Many states have already implemented SMA screening. Amanda urges all states to adopt it. She believes it can save lives.
She uses August, SMA Awareness Month, to amplify her message. She shares updates on her sons’ progress. Their journey inspires many. Amanda emphasizes parental intuition. She encourages parents to advocate for their children’s health. She also advises them to seek second opinions if needed.
Life with SMA Type 0 and a Message of Hope
Daily life for the Giddens family is demanding. It involves extensive medical care. There are numerous appointments and specialized equipment. Despite these challenges, Amanda remains positive. She focuses on celebrating every small milestone. She ensures her sons experience full and joyful lives.
Her powerful message resonates widely. She wants families to enjoy every moment. She urges them to never give up hope. She champions the importance of advocacy. Amanda Giddens continues her vital work. She fights for better outcomes for all children with SMA.
