A sad family has spoken out about the uncommon, incurable neurological disease that will mercilessly take the life of their infant daughter before her sixth birthday.
Mia, the 16-month-old daughter of Sarah Hutchesson-Webb and her fiancé, Jake Powell, was recently diagnosed with Tay-Sachs disease, a rare genetic illness that affects the nerve system.
The fatal illness is brought on by the absence of a key enzyme that aids in the breakdown of fatty compounds.
Without the necessary enzymes, fatty lipids accumulate to dangerous amounts in the central nervous system, resulting in the gradual death of nerve cells.
Tay-Sachs illness has no cure and a four- to five-year life expectancy.
Mia’s family is now focused on giving their infant daughter the greatest possible quality of life, and they have courageously shared their terrible tale to raise awareness about the “horrible” sickness.
“I would not wish this diagnosis on anyone,” Ms. Hutchesson-Webb told the Daily Mail Australia.
“All of your hopes and dreams for your child are dashed.”
We are still struggling to comprehend the diagnosis and accept it.
The South Australian pair from Mount Gambier noticed a decline in Mia’s motor functions six months ago and have since consulted a multitude of doctors to determine what was wrong.
Earlier this month, when an MRI confirmed their greatest concerns, they were stunned and devastated.
Ms. Hutchesson-Webb remembered, “Our hearts sank in astonishment.”
‘We could see something was wrong, but we assumed she had a condition that could be treated.
I cried uncontrollably after researching it on the internet.
Knowing that my only daughter will never walk down the aisle on her wedding day is the most difficult thing.
It was particularly tough to inform their young sons, Hunter, age five, and Aston, age two.
Ms. Hutcheson-Webb stated, “Hunter is aware that his infant sister is gravely ill, but Aston is too young to comprehend,” adding, “Aston is too young to comprehend.”
The mother of three described her youngest daughter as a sweet youngster.
She stated, “Had she been given the chance to mature, she would have become a kind and loving soul.”
Mia’s parents are now focused on managing her symptoms and keeping her as comfortable as possible in order to prolong her life.
Ms. Hutchesson-Webb told Daily Mail Australia, “Our objective is to create beautiful memories with Mia and her older brothers, and to keep her as healthy as possible.”
We have no idea how much time she has left.
‘Dealing with Mia’s diagnosis brings home how much more we value life’s small pleasures.
“We are also desperately attempting to raise awareness about this horrible disease that the majority of people have never heard of.”
Only two of the people I’ve spoken with regarding Tah-Sachs since Mia’s diagnosis are aware of the disease.
Mount Gambier’s close-knit community has rallied around the family as they prepare for the treacherous trek ahead.
Mount Gambier Golf Club, where Mr. Powell is employed as a greenkeeper, intends to raise $15,000 for the Powell family during a fundraiser on Friday night (February 17).
Organizers anticipate 400 residents to attend, and businesses have contributed dozens of auction prizes.
Ms. Hutcheson-Webb remarked, “We are speechless and incredibly grateful for the incredible love and compassion shown to us.”
Friends have also set up an online fundraising.
The page adds, “For those unaware, their beautiful daughter Mia has been diagnosed with an incurable disease.”
“Tay-Sachs disease ultimately causes blindness, deafness, and paralysis.” Children with infantile TS typically die before the age of five. Currently, there is no cure.
WHAT is TAY-SACHS SYNDROME?
The hereditary disorder Tay-Sachs disease (TSD) affects the nerve system.
A child must inherit an altered HEXA gene copy from both parents in order to develop TSD. This means that in order to conceive a kid with TSD, both parents must be genetic carriers for the disorder.
Movement issues – loss of ability to grin, reach out, grab onto things, crawl, roll over, or sit up, eyesight and hearing impairment, increased reactions to loud stimuli, and seizures typically emerge in previously healthy infants about six months of age.
The average life expectancy for children with TSD is approximately five years.
The situation deteriorates with time.
Currently, there is no effective treatment.
www.betterhealth.vic.gov.au is the source.
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