Jacob’s Journey with MPS1
Donation protected
Jacob Henry Bohley was born March 1, 2017. He is now a hysterical, sweet, loving 3 year old. Anyone who has ever met him knows the love he has for his Mommy, Daddy, his sister Mia, as well as his obsession with pizza and french fries. He is a light in our lives and an answered prayer.
On March 3, 2020 Jacob was diagnosed with a rare genetic disease called MPS1. A disease that both Chad and Alicia unknowingly passed on to Jacob. Mucopolysaccharidosis 1 is progressive disease that affects every part of the body. There is no cure and it is terminal. It only affects about 1 in 100,000. He is deficient in the enzyme alpha-L-iduronidase, which results in the accumulation of waste (GAGs) on his bones, skin, tissues and organs. If the diagnosis wasn’t devastating enough, on March 18th the DNA analysis showed he has the most severe form known as Hurler Syndrome.
Although there is no cure, there are two treatment options to help slow down the progression of the build up. The treatment options are weekly infusions of a man made version of the enzyme he is missing or a blood/marrow transplant. Neither will save his life, only possibly extend and help with a better quality of life. The main difference between the two is that transplant can cross the blood-brain barrier and will hopefully preserve his brain from degrading over time. The average life expectancy for children with Hurler Syndrome is 10 years old.
Jacob is currently in the process of pre transplant workup at Duke University Hospital in Durham, NC. In the coming weeks he will be admitted for a stem cell transplant using umbilical cord blood. This process will result in weeks or months in the hospital and includes needing chemotherapy to kill his immune system to prevent his body from rejecting the donor cells. Following discharge, he will need to remain within 5 minutes of the hospital, due to extreme risk of infections, at either the Ronald Mcdonald house (depending on COVID) or an apartment/hotel.
Again, this extremely risky procedure is not a cure. Within his lifetime he will need to continue to see multiple specialists and likely need other surgeries. Some of those include carpal tunnel surgery, neck/spine surgery, trigger finger surgery, hip and knee surgeries (to name a few).
Many family members and friends have felt compelled to help in this unexpected time. Our entire family is so grateful. Any donations made will go towards medical expenses, incoming bills, care for Mia while at the hospital, food, parking, travel to and from the hospital, and possible housing after discharge. Chad will be able to continue to work as normal, however, Alicia will be caring for Jacob while he is recovering. Likely until a year post transplant. Every dollar counts and is so greatly appreciated.
Thank you for taking the time to read about Jacob’s Journey, for the prayers, words of encouragement, cards, donations, and generosity. We have taken comfort in knowing that even though the journey ahead of us will be long and hard, we have an army of love and support behind us the entire way.
"So do not fear, for I am with you; do not be dismayed, for I am your God. I will strengthen you and help you; I will uphold you with my righteous right hand."
Isaiah 41:10
To follow Jacob’s Journey visit: www.facebook.com/jacobsjourneymps1
On March 3, 2020 Jacob was diagnosed with a rare genetic disease called MPS1. A disease that both Chad and Alicia unknowingly passed on to Jacob. Mucopolysaccharidosis 1 is progressive disease that affects every part of the body. There is no cure and it is terminal. It only affects about 1 in 100,000. He is deficient in the enzyme alpha-L-iduronidase, which results in the accumulation of waste (GAGs) on his bones, skin, tissues and organs. If the diagnosis wasn’t devastating enough, on March 18th the DNA analysis showed he has the most severe form known as Hurler Syndrome.
Although there is no cure, there are two treatment options to help slow down the progression of the build up. The treatment options are weekly infusions of a man made version of the enzyme he is missing or a blood/marrow transplant. Neither will save his life, only possibly extend and help with a better quality of life. The main difference between the two is that transplant can cross the blood-brain barrier and will hopefully preserve his brain from degrading over time. The average life expectancy for children with Hurler Syndrome is 10 years old.
Jacob is currently in the process of pre transplant workup at Duke University Hospital in Durham, NC. In the coming weeks he will be admitted for a stem cell transplant using umbilical cord blood. This process will result in weeks or months in the hospital and includes needing chemotherapy to kill his immune system to prevent his body from rejecting the donor cells. Following discharge, he will need to remain within 5 minutes of the hospital, due to extreme risk of infections, at either the Ronald Mcdonald house (depending on COVID) or an apartment/hotel.
Again, this extremely risky procedure is not a cure. Within his lifetime he will need to continue to see multiple specialists and likely need other surgeries. Some of those include carpal tunnel surgery, neck/spine surgery, trigger finger surgery, hip and knee surgeries (to name a few).
Many family members and friends have felt compelled to help in this unexpected time. Our entire family is so grateful. Any donations made will go towards medical expenses, incoming bills, care for Mia while at the hospital, food, parking, travel to and from the hospital, and possible housing after discharge. Chad will be able to continue to work as normal, however, Alicia will be caring for Jacob while he is recovering. Likely until a year post transplant. Every dollar counts and is so greatly appreciated.
Thank you for taking the time to read about Jacob’s Journey, for the prayers, words of encouragement, cards, donations, and generosity. We have taken comfort in knowing that even though the journey ahead of us will be long and hard, we have an army of love and support behind us the entire way.
"So do not fear, for I am with you; do not be dismayed, for I am your God. I will strengthen you and help you; I will uphold you with my righteous right hand."
Isaiah 41:10
To follow Jacob’s Journey visit: www.facebook.com/jacobsjourneymps1
Fundraising team: Team Jacob's Journey (3)
Alicia Bohley
Organizer
Raleigh, NC
Jennifer Hajjar
Team member
Michele Bohley
Team member
