Help Izzy Fight Hurler Syndrome
Donation protected
This account has been set up for Isabella Mock, aka Izzy who was diagnosed with a rare genetic disease called Hurler Syndrome (aka, MPS I).
Our beautiful little girl Isabella Paige Mock was born on Feb. 17, 2014. Weighing 7 lbs 14oz and seemingly healthy … until she began having breathing difficulties and had to be transported to Gulfport Memorial NICU. She was diagnosed with premature lung disease and had to spend a couple of weeks in NICU hooked up to a ventilator and feeding tube. Luckily she had made a great recovery and was able to come home.
We noticed in the next couple of months she was getting sick pretty often. We also noticed that she was extremely sensitive to bright lights. She couldn’t even go outside without keeping her eyes closed the entire time. Her eyes were always running and started to look really cloudy. We took her to her pediatric physician who then referred her to an ophthalmologist. At first they decided that a cornea replacement would correct the problem. We feared she would lose her eyesight so we agreed to the surgery. When she had her surgical consultation he referred her to another ophthalmologist in Jackson, MS that specialized in cornea replacements for children. After the consultation we were told that surgery wouldn't even be an option because he was pretty confident there was a more serious underlying cause for her vision problems. He then referred us to a geneticist in Jackson find out exactly what it could be.
Her geneticist said that all of her symptoms and features pointed towards Hurler Syndrome. We had absolutely no idea what it was and the explanation was overwhelming… He was very certain she did have MPS but wasn't 100% sure on what type. In order to make an official diagnosis we had to wait on the blood test results. For days we worried and prayed that maybe she would come back with a negative result… but either way we began researching the disease. We read stories, watched videos, read articles and absorbed every ounce of information we could find. Educating ourselves as much as possible so we wouldn't have any questions left unanswered.
Her results concluded that she does in fact have Hurler Syndrome (MPS 1). It is a rare genetic disease that must be passed down from both parents. The prognosis is very poor… Children with this disease can develop many physical and mental problems. The life expectancy of a child with MPS 1 is roughly 5-10 years if left untreated. There is no cure but there are some treatment options available to help prolong her life and help her live it more comfortably.
Jackson is 3 1/2 hours away from where we live. So this hospital is the closest one that has dealt with other children with Hurler Syndrome. The only non surgical treatment option available has to be done weekly so we scheduled her to have a port placement in her chest to be able to receive them. Now these treatments are capable of helping her body from the neck down… but it doesn’t break the blood brain barrier to keep her brain from being damaged. The only treatment for that would be a bone marrow transplant. If the transplant is done soon enough it will help avoid any long term damage to her brain. If successful, her body will be able to produce its own enzymes.
Izzy has been successfully been having her treatments every week. Unfortunately we haven’t been successful in finding her a match in the bone marrow registry. At this time we are testing some family members but if it turns out that no one is a match then we are going to have to start looking into having a bone marrow drive. The sooner we can get her transplant the better because we don’t want her to end up having long term damage to her brain. We also don’t want her life consisting of weekly hospital trips, long drives, needles, etc.
Izzy deserves a chance and we are in desperate need… anything that you can do to help us is a blessing. We want everyone to please join the registry so we can hurry and find her a match. And of course we could always use lots of support and lots of prayers! I hope that everyone will help share this page. Not only to raise awareness for Hurler Syndrome but to help Izzy have a chance at a normal and happy life.
We have set up a facebook page for Izzy so that everyone is able to see updates and changes:
https://www.facebook.com/HelpIzzyFightHurlerSyndrome
If you are interested in learning more about Hurler Syndrome please look at these sites:
http://www.nlm.nih.gov/medlineplus/ency/article/001204.htm
http://www.mpssociety.org.au/hurler-hurler-scheie-and-scheie-syndromes
If you would like to learn more bone marrow donation please visit:
http://www.bethematch.org
We noticed in the next couple of months she was getting sick pretty often. We also noticed that she was extremely sensitive to bright lights. She couldn’t even go outside without keeping her eyes closed the entire time. Her eyes were always running and started to look really cloudy. We took her to her pediatric physician who then referred her to an ophthalmologist. At first they decided that a cornea replacement would correct the problem. We feared she would lose her eyesight so we agreed to the surgery. When she had her surgical consultation he referred her to another ophthalmologist in Jackson, MS that specialized in cornea replacements for children. After the consultation we were told that surgery wouldn't even be an option because he was pretty confident there was a more serious underlying cause for her vision problems. He then referred us to a geneticist in Jackson find out exactly what it could be.Her geneticist said that all of her symptoms and features pointed towards Hurler Syndrome. We had absolutely no idea what it was and the explanation was overwhelming… He was very certain she did have MPS but wasn't 100% sure on what type. In order to make an official diagnosis we had to wait on the blood test results. For days we worried and prayed that maybe she would come back with a negative result… but either way we began researching the disease. We read stories, watched videos, read articles and absorbed every ounce of information we could find. Educating ourselves as much as possible so we wouldn't have any questions left unanswered.
Her results concluded that she does in fact have Hurler Syndrome (MPS 1). It is a rare genetic disease that must be passed down from both parents. The prognosis is very poor… Children with this disease can develop many physical and mental problems. The life expectancy of a child with MPS 1 is roughly 5-10 years if left untreated. There is no cure but there are some treatment options available to help prolong her life and help her live it more comfortably.
Jackson is 3 1/2 hours away from where we live. So this hospital is the closest one that has dealt with other children with Hurler Syndrome. The only non surgical treatment option available has to be done weekly so we scheduled her to have a port placement in her chest to be able to receive them. Now these treatments are capable of helping her body from the neck down… but it doesn’t break the blood brain barrier to keep her brain from being damaged. The only treatment for that would be a bone marrow transplant. If the transplant is done soon enough it will help avoid any long term damage to her brain. If successful, her body will be able to produce its own enzymes.Izzy has been successfully been having her treatments every week. Unfortunately we haven’t been successful in finding her a match in the bone marrow registry. At this time we are testing some family members but if it turns out that no one is a match then we are going to have to start looking into having a bone marrow drive. The sooner we can get her transplant the better because we don’t want her to end up having long term damage to her brain. We also don’t want her life consisting of weekly hospital trips, long drives, needles, etc.
Izzy deserves a chance and we are in desperate need… anything that you can do to help us is a blessing. We want everyone to please join the registry so we can hurry and find her a match. And of course we could always use lots of support and lots of prayers! I hope that everyone will help share this page. Not only to raise awareness for Hurler Syndrome but to help Izzy have a chance at a normal and happy life.We have set up a facebook page for Izzy so that everyone is able to see updates and changes:
https://www.facebook.com/HelpIzzyFightHurlerSyndrome
If you are interested in learning more about Hurler Syndrome please look at these sites:
http://www.nlm.nih.gov/medlineplus/ency/article/001204.htm
http://www.mpssociety.org.au/hurler-hurler-scheie-and-scheie-syndromes
If you would like to learn more bone marrow donation please visit:
http://www.bethematch.org
Organiser
Lindsay McCarty
Organiser
Pascagoula, MS
