Friends of Dorothy
Donation protected
Little baby Dorothy came into our lives on June 4th, 2015. Her debut into this world gave us the greatest joy followed by the most profound devastation.
Shortly after her birth, we were informed that our baby wasn’t thriving properly. She was lethargic, unable to feed orally, and suffered from a condition known as “hypotonia,” meaning she was floppy. Before we could wrap our minds around all this, Dot was transferred to Kingston General Hospital via ambulance and we were advised to prepare for the fact that Dorothy was not like other babies.
During our time in the NICU Dorothy was tested for several illnesses, syndromes, and disorders. Throughout the process we tried to keep our heads level, careful not to get sucked into “worst case scenarios,” all while avoiding wishful thinking. Eventually the mystery of our baby’s condition was solved in the form of a diagnosis.
Dorothy has a rare genetic condition called Prader-Willi Syndrome. PWS affects roughly 1 in 15,000 births. There are two main stages to PWS. Stage one is characterized by hypotonia, failure to thrive and most infants require tube feeding. The second stage happens between the ages of 2 to 6 years old when an insatiable hunger sets in called hyperphagia. During this stage Dorothy’s brain will begin to tell her body that she is ravenously hungry. This will never go away. The symptoms of Prader-Willi syndrome are believed to be caused by dysfunction in a portion of the brain called the hypothalamus. The hypothalamus is a small endocrine organ at the base of the brain that plays a crucial role in many bodily functions, including hunger and satiety, temperature and pain regulation.
There is no cure for PWS, but thanks to some incredible doctors doing brilliant work on this rare condition there is some hope. Study of the malfunctioning hypothalamus led endocrinologists to the discovery that use of growth hormone (GH) in the management of this syndrome is essential. The use of GH in PWS infants has been considered best practice in the United States since 2000 and changed the face of this syndrome.
Unfortunately, partly because PWS is such a rare condition, Canada has yet to approve the use of GH in infants. GH can only be prescribed off label until the age of two, which means it must be paid out of pocket until then. This has put us, and many other Canadian parents in an impossible position. Starting GH treatment as early as possible is crucial for Dot’s cognitive, social, and physical development. For this reason our only recourse is to pay for the GH until she turns two. There is no cure for the hunger, so Dorothy’s future is still unknown. Getting Dot on GH is the only thing we can do for her, the only tangible action we can take in trying to give her the best chance. We cannot afford to do this on our own. We need help.
Thanks to some help from family we were able to go to the US and meet Dr. Miller (a leading endocronolgist who specializes in PWS) to procure a prescription for GH to get Dot started. We were only able to get a one month supply (it cost $1500 American) and the doctor gave us an extra 19 days worth, while we wait for our appointment with a Canadian doctor. Our hope is that he will continue the prescription and we can buy the GH in Canada. All the money donated to this campaing will be used to pay for the GH Dot needs, whether we are forced to continue getting it in the US or here in Canada.
Any money we receive over and above the costs of the GH needed for Dot, we would like to donate to research for finding a cure for the hunger. If anybody is interested in this research, you can go to http://www.fpwr.ca/research/ to see what kind of exciting developments are in the works.
We had no idea how different our journey as parents was going to be. It has been both rewarding and challenging at times and we would genuinely appreciate any help you can give. Thank you!
- passing the time in the NICU (3 wks)
- Dot's first sleep study (children w/pws often suffer from central and obstructive apnea)
- Dot @ 5 months
-Dot on family photo day (6 months)
Shortly after her birth, we were informed that our baby wasn’t thriving properly. She was lethargic, unable to feed orally, and suffered from a condition known as “hypotonia,” meaning she was floppy. Before we could wrap our minds around all this, Dot was transferred to Kingston General Hospital via ambulance and we were advised to prepare for the fact that Dorothy was not like other babies.
During our time in the NICU Dorothy was tested for several illnesses, syndromes, and disorders. Throughout the process we tried to keep our heads level, careful not to get sucked into “worst case scenarios,” all while avoiding wishful thinking. Eventually the mystery of our baby’s condition was solved in the form of a diagnosis.
Dorothy has a rare genetic condition called Prader-Willi Syndrome. PWS affects roughly 1 in 15,000 births. There are two main stages to PWS. Stage one is characterized by hypotonia, failure to thrive and most infants require tube feeding. The second stage happens between the ages of 2 to 6 years old when an insatiable hunger sets in called hyperphagia. During this stage Dorothy’s brain will begin to tell her body that she is ravenously hungry. This will never go away. The symptoms of Prader-Willi syndrome are believed to be caused by dysfunction in a portion of the brain called the hypothalamus. The hypothalamus is a small endocrine organ at the base of the brain that plays a crucial role in many bodily functions, including hunger and satiety, temperature and pain regulation.
There is no cure for PWS, but thanks to some incredible doctors doing brilliant work on this rare condition there is some hope. Study of the malfunctioning hypothalamus led endocrinologists to the discovery that use of growth hormone (GH) in the management of this syndrome is essential. The use of GH in PWS infants has been considered best practice in the United States since 2000 and changed the face of this syndrome.
Unfortunately, partly because PWS is such a rare condition, Canada has yet to approve the use of GH in infants. GH can only be prescribed off label until the age of two, which means it must be paid out of pocket until then. This has put us, and many other Canadian parents in an impossible position. Starting GH treatment as early as possible is crucial for Dot’s cognitive, social, and physical development. For this reason our only recourse is to pay for the GH until she turns two. There is no cure for the hunger, so Dorothy’s future is still unknown. Getting Dot on GH is the only thing we can do for her, the only tangible action we can take in trying to give her the best chance. We cannot afford to do this on our own. We need help.
Thanks to some help from family we were able to go to the US and meet Dr. Miller (a leading endocronolgist who specializes in PWS) to procure a prescription for GH to get Dot started. We were only able to get a one month supply (it cost $1500 American) and the doctor gave us an extra 19 days worth, while we wait for our appointment with a Canadian doctor. Our hope is that he will continue the prescription and we can buy the GH in Canada. All the money donated to this campaing will be used to pay for the GH Dot needs, whether we are forced to continue getting it in the US or here in Canada.
Any money we receive over and above the costs of the GH needed for Dot, we would like to donate to research for finding a cure for the hunger. If anybody is interested in this research, you can go to http://www.fpwr.ca/research/ to see what kind of exciting developments are in the works.
We had no idea how different our journey as parents was going to be. It has been both rewarding and challenging at times and we would genuinely appreciate any help you can give. Thank you!
- passing the time in the NICU (3 wks)- Dot's first sleep study (children w/pws often suffer from central and obstructive apnea)- Dot @ 5 months-Dot on family photo day (6 months)Organizer
Alex Bruce
Organizer
Wellington, ON
