- S
- J
I am a family friend raising money on behalf of Melissa and Brandon, parents of Henley, who recently received some unimaginably difficult news. On October 6, 2020, sweet baby Henley was diagnosed with TWO EXTREMELY RARE conditions: Infantile Nephropathic Cystinosis & Fanconi Syndrome Cystinosis.
These diseases will affect every organ in Henley's body, & she will likely need a kidney transplant. She currently requires round-the-clock care, including carefully timed medication & feeds 24/7.
Infantile Nephropathic Cystinosis affects 1 in 200,000 people worldwide (which means only 2,000 people in the world are currently diagnosed) and only 600 people in the United States are diagnosed with this disorder. Cystinosis is when the body is unable to remove cystine from the cells, it crystallizes in the cell, and then destroys it. In addition, she was diagnosed with Fanconi Syndrome, which is a rare kidney disorder that is caused by Cystinosis. These conditions will affect her kidneys, eyes, muscles, bones, blood, pancreas, and brain.
Moving forward, miss Henley will need intensive 24/7 care, including medication that is needed at very specific times every day, in order to slow the progression of this disease. She is on a very strict feeding schedule, most of which will be administered through her recently placed G-tube as she is currently refusing to eat by mouth. She is likely to need a kidney transplant in the future.
Starting from the beginning...
Henley has had feeding issues since she was born. At her 6 month wellness visit, they realized Henley was not maintaining her growth curve. She had not gained any weight, but rather, had lost 10 oz. since her last appointment, and her head had not grown in size either.
Her parents reached out to a GI Specialist and began monitoring her very carefully. Henley was required to consume a MINIMUM of 20 oz. of breastmilk, daily, in order to prevent dehydration and 24 oz. in order to maintain weight. Within a week, she lost more weight, and was hardly able to eat at all. On September 2, 2020, she was admitted to the hospital.
It was a very trying time searching for answers, always feeling like one step forward, two steps back. During this time, she received an NG tube to assist with feeding, blood tests (which revealed dangerously low levels of electrolytes: potassium, magnesium, phosphorus, and bicarb), an attempted swallow study, an ultrasound of her kidneys, an upper GI test, a scope and biopsy of her stomach and small intestine, an x-ray of her left hand (which displayed Rickets, the softening and weakening of the bones). After a few days of supplementing with electrolytes her levels never stabilized like they should and continued to reached the low end of "normal". Her medical team was trying to pinpoint what exactly was causing all of this and brought in specialists from Nephrology.
After more than a month of no answers, they received gut-wrenching news. Blood tests confirmed that Henley is missing chromosome 17 and has been diagnosed with 2 extremely rare conditions: Infantile Nephropathic Cystinosis & Fanconi Syndrome.
This has been heartbreaking to the family and all that care for them. Please feel free to follow their journey on this site for updates and see how you can help them navigate this new normal. There is a glimmer of hope for a future cure through gene therapy but because of the extreme rarity of the disease, not much medical research is being conducted. There are less than 600 known cases of Cystinosis in the entire U.S.
The weight is too much for ANY family to carry alone, so we created an avenue for ourselves & others to offer support. With caring for Henley, even daily tasks & routines are harder to manage. In addition, future cost of care will be extravagant.
From the bottom of our hearts, thank you for any, and all love, prayers, & support sent their way.
For more information on Cystinosis, visit:
https://cystinosis.org
For more information on Fanconi Syndrome, visit:
https://www.healthline.com/health/fanconi-syndrome#diagnosis
For more information on Rickets, visit:
https://www.healthline.com/health/rickets
These diseases will affect every organ in Henley's body, & she will likely need a kidney transplant. She currently requires round-the-clock care, including carefully timed medication & feeds 24/7.
Infantile Nephropathic Cystinosis affects 1 in 200,000 people worldwide (which means only 2,000 people in the world are currently diagnosed) and only 600 people in the United States are diagnosed with this disorder. Cystinosis is when the body is unable to remove cystine from the cells, it crystallizes in the cell, and then destroys it. In addition, she was diagnosed with Fanconi Syndrome, which is a rare kidney disorder that is caused by Cystinosis. These conditions will affect her kidneys, eyes, muscles, bones, blood, pancreas, and brain.
Moving forward, miss Henley will need intensive 24/7 care, including medication that is needed at very specific times every day, in order to slow the progression of this disease. She is on a very strict feeding schedule, most of which will be administered through her recently placed G-tube as she is currently refusing to eat by mouth. She is likely to need a kidney transplant in the future.
Starting from the beginning...
Henley has had feeding issues since she was born. At her 6 month wellness visit, they realized Henley was not maintaining her growth curve. She had not gained any weight, but rather, had lost 10 oz. since her last appointment, and her head had not grown in size either.
Her parents reached out to a GI Specialist and began monitoring her very carefully. Henley was required to consume a MINIMUM of 20 oz. of breastmilk, daily, in order to prevent dehydration and 24 oz. in order to maintain weight. Within a week, she lost more weight, and was hardly able to eat at all. On September 2, 2020, she was admitted to the hospital.
It was a very trying time searching for answers, always feeling like one step forward, two steps back. During this time, she received an NG tube to assist with feeding, blood tests (which revealed dangerously low levels of electrolytes: potassium, magnesium, phosphorus, and bicarb), an attempted swallow study, an ultrasound of her kidneys, an upper GI test, a scope and biopsy of her stomach and small intestine, an x-ray of her left hand (which displayed Rickets, the softening and weakening of the bones). After a few days of supplementing with electrolytes her levels never stabilized like they should and continued to reached the low end of "normal". Her medical team was trying to pinpoint what exactly was causing all of this and brought in specialists from Nephrology.
After more than a month of no answers, they received gut-wrenching news. Blood tests confirmed that Henley is missing chromosome 17 and has been diagnosed with 2 extremely rare conditions: Infantile Nephropathic Cystinosis & Fanconi Syndrome.
This has been heartbreaking to the family and all that care for them. Please feel free to follow their journey on this site for updates and see how you can help them navigate this new normal. There is a glimmer of hope for a future cure through gene therapy but because of the extreme rarity of the disease, not much medical research is being conducted. There are less than 600 known cases of Cystinosis in the entire U.S.
The weight is too much for ANY family to carry alone, so we created an avenue for ourselves & others to offer support. With caring for Henley, even daily tasks & routines are harder to manage. In addition, future cost of care will be extravagant.
From the bottom of our hearts, thank you for any, and all love, prayers, & support sent their way.
For more information on Cystinosis, visit:
https://cystinosis.org
For more information on Fanconi Syndrome, visit:
https://www.healthline.com/health/fanconi-syndrome#diagnosis
For more information on Rickets, visit:
https://www.healthline.com/health/rickets
Organizer and beneficiary
Melissa Parsel
Beneficiary