We Love You Leah
Donation protected
Leah Williams is my 11 year old granddaughter from Kylertown, PA. She is the daughter of Brandon and Krista Williams.
Leah is thought to be the oldest living girl of 8 other girls in the entire world with a rare gene mutation called ALG13 mutation. She has 30+ diagnoses including intractable epilepsy, autonomic dysfunction, brain stem dysfunction, feeding disorder, intellectual disability, and cortical visual impairment. She has seen over 20 specialists in Geisinger, Pittsburgh, Detroit, and Philadelphia.
Leah's condition is declining. Leah has many seizures a day despite multiple medications and a special diet. Her stamina and ability to walk has declined. She is now unable to attend school. She no longer eats anything by mouth and is now 100% tube fed. She can no longer maintain her body temperature, her blood pressure, or heart rate. She now requires intermittent catheterizations. Functions that her body should automatically control are no longer occurring naturally so her body has to work harder to make that that happen. This makes her tired and she sleeps a lot. She has extreme episodes of pain.
Because her mutation is so rare, her specialists have recommended she be seen at the National Institutes of Health (NIH) in Bethesda, Maryland in hopes of better understanding her condition and to help with pain control and improving her quality of life.
Leah is scheduled to arrive at the NIH (National institutes of Health) on November 13th and will be there at least through November 19th. She will have comprehensive evaluations by a hematologist, cardiologist, pulmonologist, dermatologist, gastroenterologist, nutritionist, dentist, audiologist, ophthalmologist, immunologist, endocrinologist, neurologist, neuropsychologist, physical therapist, speech therapist, occupational therapist, and physiatrist.
Testing on Leah will include: Blood samples, urine samples, skin biopsy, muscle biopsy, spinal tap, electroretinogram, X rays, an MRI/MRS, ultrasound, neuropsychological/cognitive testing, deca scan, speech and language evaluation, TB test, visual evoked potential, conjunctival swab, genetic evaluation, gastric emptying study, video fluoroscopy, sleep study, brain stem auditory evoked potential, skeletal survey, electromyogram, EEG, and any other testing they deem necessary once she is examined and test results are back.
Leah is one of 4 children. She has 2 older brothers and a younger sister. Brandon's income is the family's only source of income. Krista had to quit her full time job some years back when Leah started becoming more medically complex.
Brandon will miss approximately 2 weeks of work while at the NIH with Leah. The cost of travel expenses (hotel, food, gas, etc.) can get pricey. Their vehicle currently has over 260,000 miles on it and is in dire need of repairs. The air conditioning does not work and because of Leah's medical condition, she is unable to sweat. This causes her body temperature to rise and she gets overheated easily. They ideally need a more dependable vehicle to help get Leah safely to and from her many doctor appointments.
Any and all contributions to get them through these trying times would be greatly appreciated. Their mailing address is PO Box 75 Kylertown, PA 16847.
Please share with your family and friends.
Leah is thought to be the oldest living girl of 8 other girls in the entire world with a rare gene mutation called ALG13 mutation. She has 30+ diagnoses including intractable epilepsy, autonomic dysfunction, brain stem dysfunction, feeding disorder, intellectual disability, and cortical visual impairment. She has seen over 20 specialists in Geisinger, Pittsburgh, Detroit, and Philadelphia.
Leah's condition is declining. Leah has many seizures a day despite multiple medications and a special diet. Her stamina and ability to walk has declined. She is now unable to attend school. She no longer eats anything by mouth and is now 100% tube fed. She can no longer maintain her body temperature, her blood pressure, or heart rate. She now requires intermittent catheterizations. Functions that her body should automatically control are no longer occurring naturally so her body has to work harder to make that that happen. This makes her tired and she sleeps a lot. She has extreme episodes of pain.
Because her mutation is so rare, her specialists have recommended she be seen at the National Institutes of Health (NIH) in Bethesda, Maryland in hopes of better understanding her condition and to help with pain control and improving her quality of life.
Leah is scheduled to arrive at the NIH (National institutes of Health) on November 13th and will be there at least through November 19th. She will have comprehensive evaluations by a hematologist, cardiologist, pulmonologist, dermatologist, gastroenterologist, nutritionist, dentist, audiologist, ophthalmologist, immunologist, endocrinologist, neurologist, neuropsychologist, physical therapist, speech therapist, occupational therapist, and physiatrist.
Testing on Leah will include: Blood samples, urine samples, skin biopsy, muscle biopsy, spinal tap, electroretinogram, X rays, an MRI/MRS, ultrasound, neuropsychological/cognitive testing, deca scan, speech and language evaluation, TB test, visual evoked potential, conjunctival swab, genetic evaluation, gastric emptying study, video fluoroscopy, sleep study, brain stem auditory evoked potential, skeletal survey, electromyogram, EEG, and any other testing they deem necessary once she is examined and test results are back.
Leah is one of 4 children. She has 2 older brothers and a younger sister. Brandon's income is the family's only source of income. Krista had to quit her full time job some years back when Leah started becoming more medically complex.
Brandon will miss approximately 2 weeks of work while at the NIH with Leah. The cost of travel expenses (hotel, food, gas, etc.) can get pricey. Their vehicle currently has over 260,000 miles on it and is in dire need of repairs. The air conditioning does not work and because of Leah's medical condition, she is unable to sweat. This causes her body temperature to rise and she gets overheated easily. They ideally need a more dependable vehicle to help get Leah safely to and from her many doctor appointments.
Any and all contributions to get them through these trying times would be greatly appreciated. Their mailing address is PO Box 75 Kylertown, PA 16847.
Please share with your family and friends.
Organizer
Cherie Buck
Organizer
Philipsburg, PA