I just checked out Tylor's blog from Jill, his Step Mom. She got some great pictures of Tylor and his little brother Drew.....
http://www.alittletytime.blogspot.com/2012/02/ty-not-goi-love-my-ty.html
February 19, 2012
3 on 3 Basketball
A few weeks ago Tylor had his Special Oympics 3 on 3 basketball tournment. He had so much fun...here are some pictures.
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| Warm up time |
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| My fan club |
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| I love my siblings |
Pictures of Ty Bug
Here are some pictures of Tylor over the last past few months...sorry it took me so long.
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| Tylor and the Big Guy at NIH |
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| Ty's Gingerbread Man...Great Job buddy |
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| Jill, Tylor, and Me at the end of our trip at NIH |
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| Tylor waiting for his next appointment |
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| The peds neurologist |
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| Tylor enjoying his art and craft time |
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| Tylor with the Children's Inn service dog. |
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| Image of Tylor's swallow study |
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| Sleeping before the MRI, spinal tap, and skin biopsie |
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| Tylor's tubes for all the blood they had to draw. (NPC 60) |
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| Nicole starting Tylor's IV...he actually slept through it. |
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| Breaking out for a little walk between appointments |
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| Gingerbread house contest |
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| This was one of our favorites |
February 7, 2012
World Rare Disease Day-Meet Alejandra
Patient Stories of Hope and Inspiration
My name is Alejandra Islas. I'm a kindergarten teacher, living in Mexico City, Mexico. I was diagnosed with Hypereosinophilic Syndrome (HES), in 1998, at a time when medical databases showed only six cases with symptoms similar to mine, and with a life expectancy of 6 months.
My symptoms started 13 years ago, while on vacation in Argentina. Initially I had itching on my torso, but quickly started to feel tired, breathless and have heart and lung pain. In what seemed unrelated, I started to feel utter discomfort in my feet. It was as if they were burning, got swollen and I could barely walk on my own.
An initial TAC and x-ray of my lungs showed some strange moving lesions which appeared to be related to parasites. Also my feet continued to bother me and I wasn’t feeling my legs from the knee to the bottom anymore and some skin lesions started to appear… they looked like chickenpox or scarlatina on my torso, vasculitis on the face and a trail of insect bites around my calf. I went to see a dermatologist, who was baffled by them but didn’t think they were a serious condition because the symptoms didn’t match to those of an infection, and he didn’t think the heart pain was related.
Luckily, my father and brother had worked in the pharmaceutical industry, they knew blood tests could reveal something still undetected. A blood test showed that my EOS count was 79,000 (when the upper limit was 6,000). Tests to check for lupus, vasculitis, scleroderma, parasites and more were ordered, but all showed up negative. Some tests were even sent to the US to the CDC in Atlanta, GA, however at that time no one could determine an explanation for my symptoms.
Over the next few months I was feeling worse and worse. Chest pain, tiredness, general sickness, awful pain in my abdomen, joint pain and hot bruises all over my body, and I couldn’t even walk anymore. I had lost several pounds and now I could barely eat.... my body started to reject all food.
In the hospital, doctors prescribed four steroids to at least calm down the pain and to see if that would help with the hypereosinophilia, and it did! And I was finally diagnosed with HES. I am currently treated with a low dose of inhaled beclomethasone, although recently it has become really hard to find around the world.
I have a strong faith and I am certain God performed a miracle where my physicians, all of them at Medica Sur Hospital, in Mexico City, have been His instruments. And of course, I also thank God for my family, without it wouldn't be possible for me to be here today.
Although I live in Mexico, I wear jeans and made denim ribbons to share with family, friends and all those who ask about the meaning of them. I also wear my special bracelet made for this purpose. I am glad to be able to contribute my experience and advice to support others with HES!!
Thank you and God bless you all!!
Alejandra Islas
Mexico City, DF
'Meet Alejandra!'
My name is Alejandra Islas. I'm a kindergarten teacher, living in Mexico City, Mexico. I was diagnosed with Hypereosinophilic Syndrome (HES), in 1998, at a time when medical databases showed only six cases with symptoms similar to mine, and with a life expectancy of 6 months.
My symptoms started 13 years ago, while on vacation in Argentina. Initially I had itching on my torso, but quickly started to feel tired, breathless and have heart and lung pain. In what seemed unrelated, I started to feel utter discomfort in my feet. It was as if they were burning, got swollen and I could barely walk on my own.
An initial TAC and x-ray of my lungs showed some strange moving lesions which appeared to be related to parasites. Also my feet continued to bother me and I wasn’t feeling my legs from the knee to the bottom anymore and some skin lesions started to appear… they looked like chickenpox or scarlatina on my torso, vasculitis on the face and a trail of insect bites around my calf. I went to see a dermatologist, who was baffled by them but didn’t think they were a serious condition because the symptoms didn’t match to those of an infection, and he didn’t think the heart pain was related.
Luckily, my father and brother had worked in the pharmaceutical industry, they knew blood tests could reveal something still undetected. A blood test showed that my EOS count was 79,000 (when the upper limit was 6,000). Tests to check for lupus, vasculitis, scleroderma, parasites and more were ordered, but all showed up negative. Some tests were even sent to the US to the CDC in Atlanta, GA, however at that time no one could determine an explanation for my symptoms.
Over the next few months I was feeling worse and worse. Chest pain, tiredness, general sickness, awful pain in my abdomen, joint pain and hot bruises all over my body, and I couldn’t even walk anymore. I had lost several pounds and now I could barely eat.... my body started to reject all food.
In the hospital, doctors prescribed four steroids to at least calm down the pain and to see if that would help with the hypereosinophilia, and it did! And I was finally diagnosed with HES. I am currently treated with a low dose of inhaled beclomethasone, although recently it has become really hard to find around the world.
I have a strong faith and I am certain God performed a miracle where my physicians, all of them at Medica Sur Hospital, in Mexico City, have been His instruments. And of course, I also thank God for my family, without it wouldn't be possible for me to be here today.
Although I live in Mexico, I wear jeans and made denim ribbons to share with family, friends and all those who ask about the meaning of them. I also wear my special bracelet made for this purpose. I am glad to be able to contribute my experience and advice to support others with HES!!
Thank you and God bless you all!!
Alejandra Islas
Mexico City, DF
World Rare Disease Day-Meet Michelle
Patient Stories of Hope and Inspiration
I am 49 year old, single mother who was an US Air Force Reservist, and also worked as a Nurse for 15yrs. In 1999, some strange symptoms started to occur, like bumping into walls, tremors, falls, numbness, tingling, in feet, legs and hands. I also experienced bowel and bladder problems, all within a month that I was off work. I went to a top specialist at UCLA, U of M Ann Arbor, and a few others. I Was told I was a difficult case after many test and exams. I had two separate groups of symptoms. One was cerebellar, which was confirmed by MRI that showed atropy of cerebellum, but there was no answer for my Upper Motor Neuron signs. And most testing was negative or normal.
After 11yrs of having a partial diagnosis of SCA (Spinocerebellar Ataxia), unidentified type. They finally found a rare abnormal gene mutation SET X (or Senataxin). This gene had only been discovered in 2004 and they are still learning about it. They found the UMN disease and my very rare diagnosis is ALS4 with a cerebellar ataxia overlap. I am joining as many clinical trials I can to help find treatment and a cure. I am an advocate locally as part of the Detroit Area Ataxia Support Group. And I dedicate as much time as possible to spreading awareness. I am a member of the National Ataxia Foundation and now the ALS foundation. I am still walking with a walker short distances and waiting for my customized wheelchair to be delivered. I take online classes at University of Phoenix for Computer Information Systems and Graphic Web Design.
Michelle DeCiantis
Michigan
'Meet Michelle!'
After 11yrs of having a partial diagnosis of SCA (Spinocerebellar Ataxia), unidentified type. They finally found a rare abnormal gene mutation SET X (or Senataxin). This gene had only been discovered in 2004 and they are still learning about it. They found the UMN disease and my very rare diagnosis is ALS4 with a cerebellar ataxia overlap. I am joining as many clinical trials I can to help find treatment and a cure. I am an advocate locally as part of the Detroit Area Ataxia Support Group. And I dedicate as much time as possible to spreading awareness. I am a member of the National Ataxia Foundation and now the ALS foundation. I am still walking with a walker short distances and waiting for my customized wheelchair to be delivered. I take online classes at University of Phoenix for Computer Information Systems and Graphic Web Design.
Michelle DeCiantis
Michigan
World Rare Disease Day-Meet Anna
Patient Stories of Hope and Inspiration
Fourteen and a half years ago, our lives were changed forever. Our one week old baby girl was diagnosed with a disease that we thought was created in a novelist's imagination. We quickly learned that it was a very real, yet rare, disease that would nearly claim our daughter's life.
Our daughter Anna was born with Maple Syrup Urine Disease, a strange name for a potentially fatal disease. Since she was a week old, Anna's life has been dictated by a very restricted diet, frequent blood tests, and constantly fearing elevated amino acid levels that lead to metabolic crisis. Yet she has not let these challenges hold her back from her ambitions.
Anna competes in track and soccer through Special Olympics. She also participates in the yearbook committee at her middle school, and volunteers at an equine therapy ranch. She strives every day that although she may live with a rare disease, this disease will not keep her from enjoying life to the fullest every day.
Paula Ruter
Michigan
'Meet Anna!'
Fourteen and a half years ago, our lives were changed forever. Our one week old baby girl was diagnosed with a disease that we thought was created in a novelist's imagination. We quickly learned that it was a very real, yet rare, disease that would nearly claim our daughter's life.
Our daughter Anna was born with Maple Syrup Urine Disease, a strange name for a potentially fatal disease. Since she was a week old, Anna's life has been dictated by a very restricted diet, frequent blood tests, and constantly fearing elevated amino acid levels that lead to metabolic crisis. Yet she has not let these challenges hold her back from her ambitions.
Anna competes in track and soccer through Special Olympics. She also participates in the yearbook committee at her middle school, and volunteers at an equine therapy ranch. She strives every day that although she may live with a rare disease, this disease will not keep her from enjoying life to the fullest every day.
Paula Ruter
Michigan
World Rare Disease Day-Meet the Wilson Brothers
Patient Stories of Hope and Inspiration
My brother, Marshall is my Hero! He saved my life. At 17 months of age, he was diagnosed with a RARE Leukodystrophy called Krabbe's Disease. A genetic disorder affecting the nervous system and it's communication to the brain. There is NO CURE and it is fatal!
Once my family and our doctors determined what was affecting my brother, we were encouraged to have me tested. Exactly one month after his confirmed diagnoses, I tested positive for the same disease. The only difference between the two of us is that I have no symptoms and became a candidate for a cord blood transplant. At four months of age I had a CBT and though I had complications with the chemo treatments, the transplant has been considered a success, as a recent MRI showed no disease activity. Thank You Brother for Saving My Life!
Marshall is now 2.5 years of age and I am 15 months old. Though I am delayed a bit, with all the therapies, love of my family, and spiritual pep talks from my brother, I am thriving, and achieving my developmental milestones, just as my brother hoped for. Without his heroism, I would not be able to SEE my brother, play with my toys, watch a flower bloom, and kiss his angelic cheeks (my brother is blind). I would not be able to giggle and babble and one day tell my brother that I love him, ‘Thank You’, and that he is my hero (my brother never spoke his first word). I can hear my Mommy's voice sing to me, my Daddy talk about fishing, and the fun activities of my brothers and sister (my brother is deaf). I can roll everywhere and sit up; I even get to hug on my brother. I get to smile, eats solid foods, get older. I will go to school, possibly college, and someday I hope to marry and have a family of my own and tell my children the story of my gene family. MY BROTHER................MY HERO!
Tammy Wilson
Oregon
'Meet the Wilson Brothers!'
My brother, Marshall is my Hero! He saved my life. At 17 months of age, he was diagnosed with a RARE Leukodystrophy called Krabbe's Disease. A genetic disorder affecting the nervous system and it's communication to the brain. There is NO CURE and it is fatal!
Once my family and our doctors determined what was affecting my brother, we were encouraged to have me tested. Exactly one month after his confirmed diagnoses, I tested positive for the same disease. The only difference between the two of us is that I have no symptoms and became a candidate for a cord blood transplant. At four months of age I had a CBT and though I had complications with the chemo treatments, the transplant has been considered a success, as a recent MRI showed no disease activity. Thank You Brother for Saving My Life!
Marshall is now 2.5 years of age and I am 15 months old. Though I am delayed a bit, with all the therapies, love of my family, and spiritual pep talks from my brother, I am thriving, and achieving my developmental milestones, just as my brother hoped for. Without his heroism, I would not be able to SEE my brother, play with my toys, watch a flower bloom, and kiss his angelic cheeks (my brother is blind). I would not be able to giggle and babble and one day tell my brother that I love him, ‘Thank You’, and that he is my hero (my brother never spoke his first word). I can hear my Mommy's voice sing to me, my Daddy talk about fishing, and the fun activities of my brothers and sister (my brother is deaf). I can roll everywhere and sit up; I even get to hug on my brother. I get to smile, eats solid foods, get older. I will go to school, possibly college, and someday I hope to marry and have a family of my own and tell my children the story of my gene family. MY BROTHER................MY HERO!
Tammy Wilson
Oregon
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