MANILA, Philippines — Girls like Julia are called ‘silent angels’ because they cannot speak. These angels need us.
Julia Roman was born on December 21, 2000, and like all newborns, she was a perfectly healthy and beautiful baby. But on her seventh month, things started to change.
Julia’s muscles started to weaken, making it difficult for her to remain seated for a long time. She threw up after every feeding. Her parents took her to a developmental pediatrician and she was diagnosed with Global Developmental Delay.
Visits to numerous specialists and therapy clinics began. Julia did not develop age-appropriate gross and language skills. At one year old, when most babies started walking, Julia had not yet even learned how to crawl, and it took her a long time to roll over.
She never cried like most babies and toddlers do. She also lost purposeful use of her hands and stopped playing with the toys she used to love.
Julia’s condition brought her family increasing anxiety and sleepless nights while waiting for the test results of her MRI, Metabolic and Organic Acid Screenings, Chromosomal Analysis, EEEEG, ECG, Hearing Tests, Thyroid Screening, X-rays, and Drug Assays. Julia underwent almost every medical test, but all results came back normal.
At age two, Julia experienced her first non-febrile seizure. Two months later, her mother Pam noticed that Julia was wringing her hands together, and was tapping her mouth over and over again in the same manner.
She also patted her mouth with her left hand, while her right hand patted her chest. Her two hands moved quickly and repetitively — a distinguishing symptom of Rett Syndrome (RTT ). She was exactly two years and six months old then.
RETT SYNDRDROME HURTS
Rett Syndrome is a neurodevelopmental disorder common in young girls that causes a sudden and permanent decline in mental capabilities.
Julia’s condition defies reason and brings confusion and sadness. For three straight days, Pam just cried and and stayed awake at night, wondering how to make it go away and ‘fix’ her daughter. “I wondered what I did to make it happen,” Pam recalls.
But she knew she must remain strong for Julia. “I searched for answers, begged for a cure, and tried everything I could. I desperately needed to fix it all. But when it all wouldn’t fix, I realized that I had to do it myself”, Pam continues.
Somehow, the diagnosis brought relief to them in the form of answers to some questions, but it didn’t answer them all. Pam devoured each and Pevery available material and learned everything she could about RTT .
She knew the specialists in the field, the hospitals, the drugs, and the tests that need to be done. She learned how to be a “special mom” and took care of her child with special needs; but it did not come easily. Julia was dependent on her on every aspect of daily living — feeding, bathing, brushing, changing of diapers, clothes, etc.
Hurt after hurt, challenge after challenge, and crisis after crisis, Pam faced them all. She later realized that RTTTT is not the worst thing that could happen to a family, and that no family is immune to pain and disease.
Pam shares, “We found joy where others might not even notice. We found times to laugh when others couldn’t even find a smile. We learned patience for her many needs and appreciation for her many gifts. She is everything I hoped for in a daughter. She is love in a sense I have never known.”
Julia may never have uttered the words, “I love you”, but with her beautiful, all-knowing eyes, she speaks these words everyday. She gives her mom, dad, brother and sister those looks that seem to scream out: “Oh, I love you so much!”
SYMPTOMS OF RTT
Because of the lack of knowledge in the country about RTTTT, there are probably hundreds of girls who are still undiagnosed or misdiagnosed (usually with autism or cerebral palsy) without knowing that it is Rett Syndrome.
Here are some symptoms of Rett Syndrome:
• A girl with RTT is usually born healthy and shows a period of apparently normal or near normal development until 6-18 months.
• Intellectual development appears to be severely delayed, but true intelligence is difficult to measure.
• Her social development appears normal, and she may begin to use and understand language. Sometime between one and two years old, she experiences a regression of these skills.
• She loses the ability to pick up and hold things in her hands or to use her hands functionally
• She stops responding to the spoken word and stops using the few single words she has learned.
• When she is upset or scared, her body may tremble or shake.
• If she can walk, her legs are stiff and wide apart. She may walk on her toes. Other girls lose the ability to walk.
• Purposeful hand use is replaced by stereotypic hand movements such as hand clasping, clapping, hand-to-mouth movements or what has become the hallmark of Rett Syndrome, hand wringing.
• She may breathe differently, either holding her breath (apnea) or huffing and puffing (hyperventilation).
• Seizures and Scoliosis (curvature of the spine) are common
Girls like Julia are called “Silent Angels” because they cannot speak. These angels need us. October is Rett Syndrome Awareness Month. Let us lend them our voices. Let us be informed and help spread awareness of this rare disease.