Chloe's Rally Against CCHS
Donation protected
Chloë was born on November 18th, 2014. She was 6 weeks premature and now lives with a rare genetic condition called Congenital Central Hypoventilation Syndrome aka CCHS with mutation 20/26. She carries the PHOX2B gene and suffers from mild Hirschsprung's disease.
When Chloë was first born, she spent a week in the NICU with severe anemia, respiratory distress and jaundice. But the day before Thanksgiving she was allowed to come home! Oh, how we were overjoyed. Unfortunately, it was short lived and after a week she was sent back due to difficulties breathing and a terrible RSV infection.
She was hooked up to oxygen and the tests began. To our dismay, all came back negative. We were told it was just really bad reflux, her RSV infection and severe dehydration. They stopped the oxygen and her stats began to plummet again. She was then transferred from the PICU (Pediatric Intensive Care Unit) up to the NICU (Neonatal ICU).
Time for more tests. Soon all the tests were coming back negative and no one could determine what was wrong. She couldn't even pass a car seat test without having a desaturation or a bradycardic event. Finally Pulmonary, Genetics, Surgical, Cardiology and Gastroenterology were brought in to investigate.
GI found GERD and Cardiology found a PFO which later turned out to be an Arterial Septal Defect. But it was when genetics came in that everything started to bring us answers. Genetics and Pulmonary sent for several blood samples, a long and overly detailed family history along with months of staring long and hard at her DNA sequences. Finally, they determined she had a rare genetic condition called Congentical Central Hypoventilation.
CCHS is a multisystem disorder of the central nervous system where, most dramatically, the automatic control of breathing is absent or impaired. A CCHS patient’s respiratory response to low blood oxygen saturation (hypoxia) or to CO2 retention (hypercapnia) is sluggish during awake hours and absent to varying degrees during sleep, serious illness, and/or stress. [credit to cchsnetwork.org for finding the perfect explaination]
Chloë started out needed several medications and oxygen ventilation 24/7 to control her illness. Luckily she is now only on nightly ventilation with the help of an apnea monitor and a pulse oximeter to alert us of any dangers that occur while she is sleeping. However, it still makes day to day tasks difficult because during extreme temperatures, we do have to make sure she is hooked up to her tanks at all times...the same when she is sick.
It's been a journey doing everything that we can for our tiny blessing. Changing oxygen tanks, giving medications, changing ventilation tubing and even inserting suppositories to help her bowels remember to function. She's even needed a car bed to provide safe transportation to and from doctor's appointments.
However, all of these medical bills have begun to add up; Cardiologists, Gastroenterologists, Pulmonologists, Neonataologists, Pediatricians, Occupational and Physical Therapists, and even swallow evaluators....it's becoming more than a family can handle.
She's our little "Tinkerbell" and we will do anything and everything we can to give her the best and most normal life that we can. We just need a little help along the way.
We aren't the kind to do this but we are asking for donations for our sweet daughter Chloë, so that we will be able to afford her doctor visits, medical equipment (ventilator, tubing,etc), specialist visits, drive time, & medications to care for Chloë as much of this goes above and beyond what our insurance covers.
Please check out www.cchsnetwork.org for info on this rare disorder. At this time we have no idea what the future holds or how the disease will progress and we are just asking not only for your donations but also for prayers for her & we thank you so much for your love and support! ❤
When Chloë was first born, she spent a week in the NICU with severe anemia, respiratory distress and jaundice. But the day before Thanksgiving she was allowed to come home! Oh, how we were overjoyed. Unfortunately, it was short lived and after a week she was sent back due to difficulties breathing and a terrible RSV infection.
She was hooked up to oxygen and the tests began. To our dismay, all came back negative. We were told it was just really bad reflux, her RSV infection and severe dehydration. They stopped the oxygen and her stats began to plummet again. She was then transferred from the PICU (Pediatric Intensive Care Unit) up to the NICU (Neonatal ICU).
Time for more tests. Soon all the tests were coming back negative and no one could determine what was wrong. She couldn't even pass a car seat test without having a desaturation or a bradycardic event. Finally Pulmonary, Genetics, Surgical, Cardiology and Gastroenterology were brought in to investigate.
GI found GERD and Cardiology found a PFO which later turned out to be an Arterial Septal Defect. But it was when genetics came in that everything started to bring us answers. Genetics and Pulmonary sent for several blood samples, a long and overly detailed family history along with months of staring long and hard at her DNA sequences. Finally, they determined she had a rare genetic condition called Congentical Central Hypoventilation.
CCHS is a multisystem disorder of the central nervous system where, most dramatically, the automatic control of breathing is absent or impaired. A CCHS patient’s respiratory response to low blood oxygen saturation (hypoxia) or to CO2 retention (hypercapnia) is sluggish during awake hours and absent to varying degrees during sleep, serious illness, and/or stress. [credit to cchsnetwork.org for finding the perfect explaination]
Chloë started out needed several medications and oxygen ventilation 24/7 to control her illness. Luckily she is now only on nightly ventilation with the help of an apnea monitor and a pulse oximeter to alert us of any dangers that occur while she is sleeping. However, it still makes day to day tasks difficult because during extreme temperatures, we do have to make sure she is hooked up to her tanks at all times...the same when she is sick.
It's been a journey doing everything that we can for our tiny blessing. Changing oxygen tanks, giving medications, changing ventilation tubing and even inserting suppositories to help her bowels remember to function. She's even needed a car bed to provide safe transportation to and from doctor's appointments.
However, all of these medical bills have begun to add up; Cardiologists, Gastroenterologists, Pulmonologists, Neonataologists, Pediatricians, Occupational and Physical Therapists, and even swallow evaluators....it's becoming more than a family can handle.
She's our little "Tinkerbell" and we will do anything and everything we can to give her the best and most normal life that we can. We just need a little help along the way.
We aren't the kind to do this but we are asking for donations for our sweet daughter Chloë, so that we will be able to afford her doctor visits, medical equipment (ventilator, tubing,etc), specialist visits, drive time, & medications to care for Chloë as much of this goes above and beyond what our insurance covers.
Please check out www.cchsnetwork.org for info on this rare disorder. At this time we have no idea what the future holds or how the disease will progress and we are just asking not only for your donations but also for prayers for her & we thank you so much for your love and support! ❤
Organizer
Heather De Bari
Organizer
Severn, MD