Rory the Alagille Warrior
Donation protected
I hoped this day would never come, where I would have to sit down and type out our story in hopes of getting help, but here we are. Last year in 2018 I found out I was pregnant with my second child. I was nervous, knowing it would be high risk because of health problems I had in the previous two years. But we were also very excited, fingers crossed for a boy, and our daughter was ecstatic to be getting a sibling. During the middle of my pregnancy, my father passed away. He hid his cancer and never sought treatment so it blindsided me. Three weeks later, my mom lost her battle with ALS. Here I was, now an orphan, trying to keep my composure so I didn't stress out the baby.
Rory, named after my mom, was born at exactly midnight on Halloween of 2018. We were home for four days before our world was turned upside down again. He was a little small at birth, and rapidly losing weight so his pediatrician had us in for a weight check. At this point he said he was very concerned with how jaundiced Rory appeared, and had some blood taken for labs. Twenty minutes after getting home from the appointment, he was calling us back. "I've already called CHKD, there's a bed waiting for Rory but you have to go NOW. His bilirubin levels are dangerously high." The jaundice did not respond at all to the light therapy, which let the doctor's know something else more troublesome was going on. Rory ended up being inpatient at the hospital for the entire first month of his life. During this time, he received numerous blood work, ultrasounds, x-rays, MRIs, a HIDA scan, and a liver biopsy. By pure chance, the hospital's geneticist overheard some of the residents discussing Rory and felt compelled to come and meet him. She told us she believed, based on the biopsy, and the findings with his eyes, heart, and renal system, that Rory had a rare genetic disease known as Alagille Syndrome. She ordered a cholestasis panel to be done to check for the genetic mutation, and two weeks after that we had a confirmed diagnosis.
Alagille Syndrome is "a genetic disorder that can affect the liver, heart, and other parts of the body. One of the major features of Alagille Syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine."
In the case of our son, he has liver cholangitis which will require a transplant. He has two congenial heart defects, Trivial Tricuspid Valve Insufficiency and Bilateral Pulmonary Branch Hypoplasia. These can cause the heart to become week and fail. The most common treatment is a balloon angioplasty and stent. He has a renal issue known as Vesicouretal Reflux where the urine doesn't flow properly but instead backs up into the kidneys and because of this, his kidneys have taken a hot and he shows signs of kidney disease. He also has an eye anomaly that can cause increased pressure or glaucoma. As if liver failure wasn't bad enough, it brings a whole cornucopia of smaller issues along with it such as failure to thrive (at almost 14 months old he is 18.5 lbs and at the 2 percentile for weight ), he has malabsorption issues which led to him getting a Nasogastric feeding tube, and with that came complete oral aversion so all good and medications go through this tube.) He has severe deficiencies in vitamins A,D,E,and K. Vitamin D is essential for bone strength and growth, as well as brain development. Because of his vitamin K deficiency, his blood does not clot properly. We have had many ER visits for scratches (liver failure causes pruitis, an intense deep itching) that bleed for 12+ hours with no end in sight. I now give him weekly injections of vitamin K into his thigh muscles and we are starting to see a difference.
Sometimes I joke that we should just live at the hospital since we are there so much. Rory sees several different specialists at CHKD (Gastroenterology, Cardiology, Urology, Nephrology, Ophthalmology, Endocrinology, Genetics) as well as a pediatric GI who specializes in Transplants up at Georgetown in Washington DC. He is on eight different medications multiple times a day.
Because of his disease, I almost have to keep him quarantined, not an easy task with a seven year old also. She gets sick, misses a day or two of school and is over it. He gets sick and has to spend a few days in the hospital.
He will have to have special forms when he goes to school, and at this point he is not developmentally at his age, but lacking a few months behind. He does not speak, does not stand on his own, does not walk. He has a few therapists working with him and they are wonderful. Because of the vitamin D deficiency, he won't get to enjoy the same play as other boys do when he gets older. Contact sports are a hard no.
Alagille children also start presenting issues with their brain, normally around ages 4-5 so at that point he will need to start getting multiple routine scans done to look for aneurysms, brain bleeds, signs of stroke etc.
Now to the point of why I'm at this low point, starting this campaign. Rory had Medicaid coverage for his first year of life. He no longer does and we, quite simply and honestly, cannot afford the care he needs. I've mentioned his many specialists, some he sees on a monthly basis, monthly lab work, long list of meds, but there is also the cost of the supplies for his feeding tube. A one month supply of bags for his pump are roughly $115 . He's on a specialty formula for malabsorption, called Elecare Jr. A case of six cans is $129. Rory goes through 23 cans a month. WIC has stated they will provide ten cans, leaving us to still come up with the other 13 cans ($390 a month!)
We are saddened. We are scared. Our son needs these things and as a parent, it's an awful feeling not being able to provide. He didn't ask to have such a hard life, and all we want to do is make it manageable and happy for him.
For more information about Alagille Syndrome, please visit WWW.Alagille.org
To see updates on Rory, please like and visit his Facebook page, Rory the Alagille Warrior, at
https://m.facebook.com/pages/category/Personal-Blog/Rory-the-Alagille-Warrior-105981550755198/
Rory, named after my mom, was born at exactly midnight on Halloween of 2018. We were home for four days before our world was turned upside down again. He was a little small at birth, and rapidly losing weight so his pediatrician had us in for a weight check. At this point he said he was very concerned with how jaundiced Rory appeared, and had some blood taken for labs. Twenty minutes after getting home from the appointment, he was calling us back. "I've already called CHKD, there's a bed waiting for Rory but you have to go NOW. His bilirubin levels are dangerously high." The jaundice did not respond at all to the light therapy, which let the doctor's know something else more troublesome was going on. Rory ended up being inpatient at the hospital for the entire first month of his life. During this time, he received numerous blood work, ultrasounds, x-rays, MRIs, a HIDA scan, and a liver biopsy. By pure chance, the hospital's geneticist overheard some of the residents discussing Rory and felt compelled to come and meet him. She told us she believed, based on the biopsy, and the findings with his eyes, heart, and renal system, that Rory had a rare genetic disease known as Alagille Syndrome. She ordered a cholestasis panel to be done to check for the genetic mutation, and two weeks after that we had a confirmed diagnosis.
Alagille Syndrome is "a genetic disorder that can affect the liver, heart, and other parts of the body. One of the major features of Alagille Syndrome is liver damage caused by abnormalities in the bile ducts. These ducts carry bile (which helps to digest fats) from the liver to the gallbladder and small intestine."
In the case of our son, he has liver cholangitis which will require a transplant. He has two congenial heart defects, Trivial Tricuspid Valve Insufficiency and Bilateral Pulmonary Branch Hypoplasia. These can cause the heart to become week and fail. The most common treatment is a balloon angioplasty and stent. He has a renal issue known as Vesicouretal Reflux where the urine doesn't flow properly but instead backs up into the kidneys and because of this, his kidneys have taken a hot and he shows signs of kidney disease. He also has an eye anomaly that can cause increased pressure or glaucoma. As if liver failure wasn't bad enough, it brings a whole cornucopia of smaller issues along with it such as failure to thrive (at almost 14 months old he is 18.5 lbs and at the 2 percentile for weight ), he has malabsorption issues which led to him getting a Nasogastric feeding tube, and with that came complete oral aversion so all good and medications go through this tube.) He has severe deficiencies in vitamins A,D,E,and K. Vitamin D is essential for bone strength and growth, as well as brain development. Because of his vitamin K deficiency, his blood does not clot properly. We have had many ER visits for scratches (liver failure causes pruitis, an intense deep itching) that bleed for 12+ hours with no end in sight. I now give him weekly injections of vitamin K into his thigh muscles and we are starting to see a difference.
Sometimes I joke that we should just live at the hospital since we are there so much. Rory sees several different specialists at CHKD (Gastroenterology, Cardiology, Urology, Nephrology, Ophthalmology, Endocrinology, Genetics) as well as a pediatric GI who specializes in Transplants up at Georgetown in Washington DC. He is on eight different medications multiple times a day.
Because of his disease, I almost have to keep him quarantined, not an easy task with a seven year old also. She gets sick, misses a day or two of school and is over it. He gets sick and has to spend a few days in the hospital.
He will have to have special forms when he goes to school, and at this point he is not developmentally at his age, but lacking a few months behind. He does not speak, does not stand on his own, does not walk. He has a few therapists working with him and they are wonderful. Because of the vitamin D deficiency, he won't get to enjoy the same play as other boys do when he gets older. Contact sports are a hard no.
Alagille children also start presenting issues with their brain, normally around ages 4-5 so at that point he will need to start getting multiple routine scans done to look for aneurysms, brain bleeds, signs of stroke etc.
Now to the point of why I'm at this low point, starting this campaign. Rory had Medicaid coverage for his first year of life. He no longer does and we, quite simply and honestly, cannot afford the care he needs. I've mentioned his many specialists, some he sees on a monthly basis, monthly lab work, long list of meds, but there is also the cost of the supplies for his feeding tube. A one month supply of bags for his pump are roughly $115 . He's on a specialty formula for malabsorption, called Elecare Jr. A case of six cans is $129. Rory goes through 23 cans a month. WIC has stated they will provide ten cans, leaving us to still come up with the other 13 cans ($390 a month!)
We are saddened. We are scared. Our son needs these things and as a parent, it's an awful feeling not being able to provide. He didn't ask to have such a hard life, and all we want to do is make it manageable and happy for him.
For more information about Alagille Syndrome, please visit WWW.Alagille.org
To see updates on Rory, please like and visit his Facebook page, Rory the Alagille Warrior, at
https://m.facebook.com/pages/category/Personal-Blog/Rory-the-Alagille-Warrior-105981550755198/
Organizer
Amanda Spence
Organizer
Virginia Beach, VA