Answers for Aurora
Donation protected
*to be clear, this fundraiser is to help find a diagnosis for Aurora NOT to assist with bills or any other use.
Aurora has had a special journey from the moment she was born. After a happy and uneventful pregnancy, Aurora was born with the assistance of a midwife in the presence of her father, grandmother, and aunt. She was tiny but precious and seemed fine at first glance. Soon after it was discovered she was born with a defect to her lower digestive system requiring her to take her first solo vacation to Winnie Palmer Hospital for Women and Children's NICU in Orlando. After a few days there, doctors surgically repaired her imperforate anus and she was sent home in just under a week.
Things seemed different but everyone hoped her slow growth and lax muscles were just her body's way of recovering from surgery. No one anticipated that the next three years would slowly reveal problem after problem, mystery after mystery.
To sum it all up, Aurora is a mystery grab bag of symptoms. At three years old, she has yet to say a single word and has limited range in her babbling (although her frequent laughter speaks volumes!). She couldn't sit unassisted until she was 17 mos old, crawled at 22 mos, and although she can pull to stand, she cannot walk or stand unassisted. She struggles to eat anything beyond "chunky" purées or easily dissolvable foods because she doesn't seem to have that instinct to recognize and chew her food (she works on this diligently with her speech language pathologist and at home though!) and she can still only drink from a bottle. She has some degree of vision impairment and probable hearing impairment or at least trouble processing sounds. She absolutely loves music and singing and lights up when you sing to her but does not respond to spoken language.
MRIs of her brain reveal delayed myelination of the nerves (myelin is the insulating layer covering nerve fibers that allows nerves to send their signals to the rest of the body). Many of Aurora's delays seem to stem from a lack of or slow signal from her brain.
She has a few little quirky qualities including a severely decreased sensitivity to pain. She will not cry even while getting blood drawn or if she bumps her noggin. While this seems great, it's extremely difficult to tell if she's sick and it's hard to tell if something is hurting her.
Her poor gross motor skills contribute to her not walking while her poor fine motor skills means she cannot do things we take for granted like pick things up with her fingers or even wave and clap. She's making progress though thanks to great therapists she sees twice every week for physical and occupational therapy. It was recently discovered that even her heart is unique! Aurora was born with an Aberrent Right Subclavian Artery meaning one of her major arteries is positioned on the complete opposite side of the aorta from where it should be. Thankfully, her case isn't harming her and can be left alone. Her sensory system can be very easily overwhelmed and overloaded resulting in an array of reactions including tremors, involuntary muscle stiffening, or falling asleep (which she is known to do often in restaurants and busy waiting rooms). She also has dental abnormalities and skin pigmentation irregularities to round out her list of symptoms.
On a regular basis, Aurora sees physical, occupational, and speech tharapists in addition to her pediatrician, neurologist, geneticist, opthamologist, ENT, audiologist, nutritionist, GI specialist, and the surgeon who repaired her initial defect. All of them agree that Aurora's vast array of symptoms point to a genetic source. Aurora has had an impressive list of tests completed! To date, she has had three MRIs of her brain under sedation, a chromosomal micro array ( which looks for extra chromosomes or pieces missing from chromosomes), a full metabolic work up, skin biopsy karyotype, spinal ultrasound, two kidney ultrasounds, spinal x-ray, full sketal x-rays, MRI of her chest and MRA of her right subclavian artery under sedation, tubes in her ears, countless vision tests and therapies ( including drops to dilate one of her pupils for a week at a time and daily patching of her eyes-a really fun process!), several hearing tests ( with insufficient results leading to her needing to be sedated yet again for a more complex hearing test in the near future), blood tests, EKG and ultrasound of her heart, overnight hospital stays for EEGs revealing "background slowing"(basically, her brain activity more closely resembles a 7mo old rather than a 3yr old), and repeated evalutions by specialists. Her neurologist and the school district's team of specialists evaluate her at the age equivalent of a seven month old and put her cognitive, emotional, social, and motor skills at lower than 1% of her peers.
All of this with no definitive answers or diagnosis to tie it all together or give her family a clue as to what her future holds. They don't know if this is a spontaneous and random problem in a chromosome or if both parents carry recessive genes for a rare disorder.
Her specialists and doctors all agree that she needs a highly specialized test called Whole Exome Sequencing. This test goes beyond what all of her other testing could do and looks for mutations in her chromosomes. This test isn't 100% but it's the closest chance to finally finding an answer for Aurora.
Unfortunately her insurnace company has declined covering the test because of its $20,000 price tag. Their reasoning is that Aurora is not in severe pain (that we know of) and her problems aren't terminal. Having a diagnosis won't cure Aurora. She's still in for a lifetime of care and support but this could help her family know exactly how to care for her.
One lab has agreed to reduce the cost of the test if her family has to pay for it without insurance. They can also analyze the DNA of both parents to increase the odds of finding out which rare disorder Aurora has. This fund is to help cover the testing; to help find an answer. Finally.
Any amount contributed would be greatly appreciated and no amount is too small. Thank you for taking the time to read this and cheer for this sweet girl. If you cannot help financially, sharing this page also greatly helps!
Aurora has had a special journey from the moment she was born. After a happy and uneventful pregnancy, Aurora was born with the assistance of a midwife in the presence of her father, grandmother, and aunt. She was tiny but precious and seemed fine at first glance. Soon after it was discovered she was born with a defect to her lower digestive system requiring her to take her first solo vacation to Winnie Palmer Hospital for Women and Children's NICU in Orlando. After a few days there, doctors surgically repaired her imperforate anus and she was sent home in just under a week.
Things seemed different but everyone hoped her slow growth and lax muscles were just her body's way of recovering from surgery. No one anticipated that the next three years would slowly reveal problem after problem, mystery after mystery.
To sum it all up, Aurora is a mystery grab bag of symptoms. At three years old, she has yet to say a single word and has limited range in her babbling (although her frequent laughter speaks volumes!). She couldn't sit unassisted until she was 17 mos old, crawled at 22 mos, and although she can pull to stand, she cannot walk or stand unassisted. She struggles to eat anything beyond "chunky" purées or easily dissolvable foods because she doesn't seem to have that instinct to recognize and chew her food (she works on this diligently with her speech language pathologist and at home though!) and she can still only drink from a bottle. She has some degree of vision impairment and probable hearing impairment or at least trouble processing sounds. She absolutely loves music and singing and lights up when you sing to her but does not respond to spoken language.
MRIs of her brain reveal delayed myelination of the nerves (myelin is the insulating layer covering nerve fibers that allows nerves to send their signals to the rest of the body). Many of Aurora's delays seem to stem from a lack of or slow signal from her brain.
She has a few little quirky qualities including a severely decreased sensitivity to pain. She will not cry even while getting blood drawn or if she bumps her noggin. While this seems great, it's extremely difficult to tell if she's sick and it's hard to tell if something is hurting her.
Her poor gross motor skills contribute to her not walking while her poor fine motor skills means she cannot do things we take for granted like pick things up with her fingers or even wave and clap. She's making progress though thanks to great therapists she sees twice every week for physical and occupational therapy. It was recently discovered that even her heart is unique! Aurora was born with an Aberrent Right Subclavian Artery meaning one of her major arteries is positioned on the complete opposite side of the aorta from where it should be. Thankfully, her case isn't harming her and can be left alone. Her sensory system can be very easily overwhelmed and overloaded resulting in an array of reactions including tremors, involuntary muscle stiffening, or falling asleep (which she is known to do often in restaurants and busy waiting rooms). She also has dental abnormalities and skin pigmentation irregularities to round out her list of symptoms.
On a regular basis, Aurora sees physical, occupational, and speech tharapists in addition to her pediatrician, neurologist, geneticist, opthamologist, ENT, audiologist, nutritionist, GI specialist, and the surgeon who repaired her initial defect. All of them agree that Aurora's vast array of symptoms point to a genetic source. Aurora has had an impressive list of tests completed! To date, she has had three MRIs of her brain under sedation, a chromosomal micro array ( which looks for extra chromosomes or pieces missing from chromosomes), a full metabolic work up, skin biopsy karyotype, spinal ultrasound, two kidney ultrasounds, spinal x-ray, full sketal x-rays, MRI of her chest and MRA of her right subclavian artery under sedation, tubes in her ears, countless vision tests and therapies ( including drops to dilate one of her pupils for a week at a time and daily patching of her eyes-a really fun process!), several hearing tests ( with insufficient results leading to her needing to be sedated yet again for a more complex hearing test in the near future), blood tests, EKG and ultrasound of her heart, overnight hospital stays for EEGs revealing "background slowing"(basically, her brain activity more closely resembles a 7mo old rather than a 3yr old), and repeated evalutions by specialists. Her neurologist and the school district's team of specialists evaluate her at the age equivalent of a seven month old and put her cognitive, emotional, social, and motor skills at lower than 1% of her peers.
All of this with no definitive answers or diagnosis to tie it all together or give her family a clue as to what her future holds. They don't know if this is a spontaneous and random problem in a chromosome or if both parents carry recessive genes for a rare disorder.
Her specialists and doctors all agree that she needs a highly specialized test called Whole Exome Sequencing. This test goes beyond what all of her other testing could do and looks for mutations in her chromosomes. This test isn't 100% but it's the closest chance to finally finding an answer for Aurora.
Unfortunately her insurnace company has declined covering the test because of its $20,000 price tag. Their reasoning is that Aurora is not in severe pain (that we know of) and her problems aren't terminal. Having a diagnosis won't cure Aurora. She's still in for a lifetime of care and support but this could help her family know exactly how to care for her.
One lab has agreed to reduce the cost of the test if her family has to pay for it without insurance. They can also analyze the DNA of both parents to increase the odds of finding out which rare disorder Aurora has. This fund is to help cover the testing; to help find an answer. Finally.
Any amount contributed would be greatly appreciated and no amount is too small. Thank you for taking the time to read this and cheer for this sweet girl. If you cannot help financially, sharing this page also greatly helps!
Organizer and beneficiary
Bonny Schwartz
Organizer
Vero Beach, FL
Bethany Riddlehoover
Beneficiary
Inspired to help? Start a fundraiser for someone you know
