Showing posts with label inspiring. Show all posts
Showing posts with label inspiring. Show all posts
June 19, 2014
May 21, 2014
Field Trip: Little Dell Reservoir
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| Little Dell Reservoir |
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| On the school bus and ready to go! |
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| Headed down to the boat ramp. |
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| The very first canoe to be loaded and pushing off. |
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| Victoria serves as scout, pointing the way. |
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| Canoeing on a very windy day. |
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| Paddling further out. |
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| Pointing at Mama back on shore. |
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| Paddling out to see some Canada Geese. |
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| Being joined by a classmate in another canoe. |
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| On the way back to shore. |
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| Bertrand was singing a happy song. |
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| Docking and unloading the canoe. |
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| A very happy boater. |
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| Canoeing wiped us out! |
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| Can I go again?! |
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| Surrounded by classmates/friends. |
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| Little sister photobomb. |
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| Boy, was canoeing fun or what?! |
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| Can't wait to do this again next year! |
May 1, 2014
NGLY1 Benefit for Jordan & Jessie!
The community of Jackson County, Georgia, USA is rallying around one of our amazing NGLY1 families: the Stinchcombs!
The Stinchcombs have one son and three daughters. Two of their daughters have recently been diagnosed through genetic testing they both suffer from the same very rare mutation in their DNA called N-Glycanase Deficiency, otherwise known as NGLY1. There are only 9 living children in the world with this rare genetic disease.
Everyday life for this amazingly resilient family is tough. Both girls who suffer from NGLY1 do not speak, they can not walk, they wear diapers, drink special formula, use wheel chairs and are completely dependent on their parents to meet all of their needs without ANY outside help.
Traveling anywhere as a family or even to the grocery store, is nearly impossible. The one thing that could change the quality of life for this precious family would be handicap accessible transportation equipped with a lift and large enough to accommodate the girls' two wheel chairs and the other two children. That is the goal of this fundraiser: helping them achieve mobility so their family can function more like an every day family! Please help us achieve this goal and beyond!
One $100 ticket admits two for dinner.
For tickets or donation information, please call Greg Reidling at 770-560-4628.
April 29, 2009
Letter from an Allgrove's Researcher
Below is the response from Dr. Marzieh Salehi, one of the few doctors in the world experienced with Allgrove Syndrome. This is one of the diseases Bertrand is being tested for. She mentioned testing for a fasting cortisol and running an ACTH stimulation test (neither of which we've done), after which (if results are consistent with Allgrove) we can move to genetic testing.
Keep in mind Allgrove (a.k.a. Triple A Syndrome) is rare. Let's put it this way, when I first researched it, the wikipedia entry was one line. It's a long shot that B would have it. Allgrove was first described in 1978, but since then, according to Dr. Salehi, there are maybe 80 reported cases in the world. (Although, many likely die before ever getting diagnosed.) So, yeah, it's rare.
Dear Ms. Might,
Dr. Poretsky forwarded your e-mail to me to respond. I’m afraid that I would not be able to help much given the lack of experience with the pediatric population affected with this condition as well as lack of knowledge with non-endocrinological aspects of this disease. There are not many people who know about this condition as the total number of cases reported in the world is about 70-80, so the most expertise regarding diagnosis and management generally comes from Neuromuscular Clinics. We collaborated with Dr. Henry Houlden from London, UK. for genetic testing in our case and I know that Dr. Felicia Axelrod, who is running a dysautonomia clinic at NYU, New York, has an extensive experience with these patients, so she will be a good source of information.
Your son has the key features suggesting the diagnosis of Allgrove Syndrome as you pointed out, however, he does not have to have all the features together, cases with tear abnormality or achalasia without any other problems have been well described and adrenal insufficiency may never been developed or come late (not until 20s and 30s of age). Based on what you mentioned it is reasonable to start with something more than fasting levels of cortisol; perhaps, ACTH stimulation test (high dose and low dose) that could be monitored every 6-12 months depending on general status.
Best regards,
Marzieh Salehi, M.D.
Division of Endocrinology, Diabetes and Metabolism
University of Cincinnati, College of Medicine
The Vontz Center for Molecular Studies
Keep in mind Allgrove (a.k.a. Triple A Syndrome) is rare. Let's put it this way, when I first researched it, the wikipedia entry was one line. It's a long shot that B would have it. Allgrove was first described in 1978, but since then, according to Dr. Salehi, there are maybe 80 reported cases in the world. (Although, many likely die before ever getting diagnosed.) So, yeah, it's rare.
Dear Ms. Might,
Dr. Poretsky forwarded your e-mail to me to respond. I’m afraid that I would not be able to help much given the lack of experience with the pediatric population affected with this condition as well as lack of knowledge with non-endocrinological aspects of this disease. There are not many people who know about this condition as the total number of cases reported in the world is about 70-80, so the most expertise regarding diagnosis and management generally comes from Neuromuscular Clinics. We collaborated with Dr. Henry Houlden from London, UK. for genetic testing in our case and I know that Dr. Felicia Axelrod, who is running a dysautonomia clinic at NYU, New York, has an extensive experience with these patients, so she will be a good source of information.
Your son has the key features suggesting the diagnosis of Allgrove Syndrome as you pointed out, however, he does not have to have all the features together, cases with tear abnormality or achalasia without any other problems have been well described and adrenal insufficiency may never been developed or come late (not until 20s and 30s of age). Based on what you mentioned it is reasonable to start with something more than fasting levels of cortisol; perhaps, ACTH stimulation test (high dose and low dose) that could be monitored every 6-12 months depending on general status.
Best regards,
Marzieh Salehi, M.D.
Division of Endocrinology, Diabetes and Metabolism
University of Cincinnati, College of Medicine
The Vontz Center for Molecular Studies
April 19, 2009
April 12, 2009
Happy Bunny Day!
It feels so good to be home! The sky is so clear, the snow capped mountains beautiful, the grass and tulips and daffodils so bright! It is a good day to be alive. :)
Bertrand will enjoy a nice long walk with Mom, Dad and his dog after his morning nap (he went down early since he is back on East coast time). Bertrand got two new books and two new Elmo DVDs from the "easter bunny" along with beautiful cards, toys and cash from his grandmas. Quite the haul for the little guy!
And, the presents aren't stopping there. This morning Bertrand and I were looking at gait trainers. Since our insurance will cover 90% of the cost, Bertrand wants a top of the line Bronco Gait Trainer. He'd be able to use it until he hits 66 lbs and it would enable him to go off road!
Watch out, world. Here comes Danger Baby! :)
Bertrand will enjoy a nice long walk with Mom, Dad and his dog after his morning nap (he went down early since he is back on East coast time). Bertrand got two new books and two new Elmo DVDs from the "easter bunny" along with beautiful cards, toys and cash from his grandmas. Quite the haul for the little guy!
And, the presents aren't stopping there. This morning Bertrand and I were looking at gait trainers. Since our insurance will cover 90% of the cost, Bertrand wants a top of the line Bronco Gait Trainer. He'd be able to use it until he hits 66 lbs and it would enable him to go off road!
Watch out, world. Here comes Danger Baby! :)
April 3, 2009
RE: Genetic modification of umbilical stem cells for treatment of lysosomal storage disease?
Inspired by two other moms (Carrie and Chris) in the lysosomal storage disease community, I've been looking "outside the box" for possible treatments.
My first treatment concept involves altering the existing cord blood treatment for lysosomal storage disease to use a gene-modified version of Bertrand's own cord blood to minimize rejection and increase engraftment.
After a few weeks of looking into gene-modified umbilical cord blood research, I found a genetics & hematology expert at Harvard Medical School. He has done work with gene-modified cord blood for other diseases. The following is the prompt reply to the email I sent.
Cristina, this will depend very largely on the specific disease-causing gene, if found, and therefore the diagnosis. I would be happy to comment once you know this. There are not too many gene therapy trials open for metabolic diseases at this point.
FYI, this is the body of the email I sent.
I am the mother of a 15 month-old boy who is undergoing evaluation to determine which lysosomal storage disorder he has. Several such as Tay-Sachs and GM1 have already been discounted. I am jumping the gun a bit by looking at possible therapies--we are taking him to Duke University next week to be evaluated for a possible cord blood transplant (if his situation merits it). As you are well aware, there are many risks, such as rejection, associated with this treatment. With this in mind, I was wondering if you knew of anyone was capable genetically modifying his own banked cord blood to be used in the transplant? Your work with adenosine deaminase deficiency is the closest I've found. Even if a clinical trial comes too late for my son, I would like to know who is working in this area. It would make make the fight ahead of us easier knowing that others are fighting with us against this dreadful family of diseases.
My first treatment concept involves altering the existing cord blood treatment for lysosomal storage disease to use a gene-modified version of Bertrand's own cord blood to minimize rejection and increase engraftment.
After a few weeks of looking into gene-modified umbilical cord blood research, I found a genetics & hematology expert at Harvard Medical School. He has done work with gene-modified cord blood for other diseases. The following is the prompt reply to the email I sent.
Cristina, this will depend very largely on the specific disease-causing gene, if found, and therefore the diagnosis. I would be happy to comment once you know this. There are not too many gene therapy trials open for metabolic diseases at this point.
FYI, this is the body of the email I sent.
I am the mother of a 15 month-old boy who is undergoing evaluation to determine which lysosomal storage disorder he has. Several such as Tay-Sachs and GM1 have already been discounted. I am jumping the gun a bit by looking at possible therapies--we are taking him to Duke University next week to be evaluated for a possible cord blood transplant (if his situation merits it). As you are well aware, there are many risks, such as rejection, associated with this treatment. With this in mind, I was wondering if you knew of anyone was capable genetically modifying his own banked cord blood to be used in the transplant? Your work with adenosine deaminase deficiency is the closest I've found. Even if a clinical trial comes too late for my son, I would like to know who is working in this area. It would make make the fight ahead of us easier knowing that others are fighting with us against this dreadful family of diseases.
March 29, 2009
Genome Scanning: 23andMe
Long before Bertrand was born, Matthew and I would engage in lively discussions about human genetics--our own in particular. Bertrand has rekindled a lot of those discussions with an added dimension: given the genetic nature of his disease, how do we prevent another child (sibling or cousin) from suffering like he has? Well, it's amazing what a few years can accomplish. Genome typing cost in the neighborhood of $3 billion in 1998. It's fallen by about a factor of 10 each year since then. Now, you can get the most relevant chunks of your genome scanned by 23andMe for just $399.
This opens the door to scanning yourself for predisposition to all kinds of diseases: cancers, diabetes, neurological disorders, heart problems, rare genetic conditions, etc. In some cases, you could get decades to take preventative action to either eliminate or delay the onset of symptoms. Or, if you're the co-founder of Google, and you find you're likely to get Parkinson's, you can throw a few billion dollars at curing it. ;)
This opens the door to scanning yourself for predisposition to all kinds of diseases: cancers, diabetes, neurological disorders, heart problems, rare genetic conditions, etc. In some cases, you could get decades to take preventative action to either eliminate or delay the onset of symptoms. Or, if you're the co-founder of Google, and you find you're likely to get Parkinson's, you can throw a few billion dollars at curing it. ;)
March 21, 2009
Study for Neurodevelopmental Function in Rare Disorders
Bertrand will be seeing Dr. Maria Escolar at UNC on April 7th for a 4-6 hour evaluation.
Dr. Escolar is the director of the Program for the Study of Neurodevelopmental Function in Rare Disorders (NFRD). The NFRD was established in 2000 because of the need to help children and their families understand the overall impact of pediatric neurological diseases. While the program initially focused on Lysosomal Storage disorders, it has now expanded to include many other rare disorders. The program has longitudinally evaluated over 400 children. Because these disorders are rare (incidence of 1 in 40,000 – 200,000), the many patients it follows represents a substantial proportion of the population of children with these disorders.
The NFRD is a program within the Clinical Center for Development and Learning (CDL), and the CDL is a program within the Carolina Institute for Developmental Disabilities. The Carolina Institute was recently established by the University of North Carolina at Chapel Hill School of Medicine to advance research, training and treatment efforts aimed at aiding children and adults with developmental disabilities.
March 9, 2009
Dr. Joanne Kurtzberg
A friend of my father's, Suzanne, introduced us to Dr. Joanne Kurtzberg at Duke University. She is already reviewing his medical records and prior MRI. A trip to North Carolina maybe in the near future. If anyone can help Bertrand, she can. The following is her biography from the Children's Miracle Network.
Dr. Joanne Kurtzberg’s career is a history of medical firsts. As program director for Pediatric Blood and Marrow Transplantation at Duke University Medical Center, she has been at the forefront of research and treatment for decades.
Dr. Kurtzberg pioneered the use of unrelated umbilical cord blood transplants for children with resistant cancers and rare metabolic diseases, and she personally performed the first unrelated cord blood transplant. Hundreds of children used to die each year awaiting a genetically matched adult bone marrow donor. Since cord blood does not have to be perfectly matched to be a successful source of stem cells for a child’s transplant, Dr. Kurtzberg’s work is changing that statistic dramatically. Dr. Kurtzberg and her team at Duke have performed more cord blood transplants than any other group, saving the lives of many children who otherwise had no hope for survival.
“Just within the last year we treated 12 newborns who had a disease that would have made them severely disabled by one to two years and then killed them,” says Dr. Kurtzberg, “and all those children are alive and walking, at normal schools and are able to have normal lives.”
Dr. Kurtzberg is also giving children with genetic disorders that were once a death sentence a reasonable chance for a healthy life. Her team specializes in treating rare inherited disorders that cause severe neurological damage and death. When children with these deadly diseases recieve transplants in time, the disease can be --and has been --stopped before it starts.
Dr. Kurtzberg is known worldwide as a pioneer in children’s healthcare. To her patients and their families, she is simply the doctor they can’t live without.
“All of the children I take care of come to us as a last hope, but they have incredible wills to live. I am inspired everyday by the families and the children themselves who I treat.”
March 8, 2009
Letter from Olin
Oh, Matt, Cristina. I am so sorry. Cristina's post was very difficult to read;
I had to stop for a minute and take it in two pieces. The whole idea of a baby
bucket list is so wrong -- not the idea, but that one would live in a universe
in which a BBL was the right, excellent idea, that's what's wrong.
I am travelling (to obvious places), but will ring when I get home on Monday.
I have thought a little bit about my own childhood. Here are my BBL ideas.
Probably my #1 lifetime best memory -- I mean *peaking out* here, never
bettered by anything that has ever happened since -- is a block party that my
mom threw for my 4th or 5th birthday. You've seen my home and the quiet little
street in Buckhead where I grew up. We had freaking *ponys*. With carts.
They'd pick you up in the turnaround in front of my house, then give you a
ride down the hill to W. Andrews Dr. and take you up and down the street, then
back up the drive to my house. I think there was a magician. It was a *blowout*
-- World War II, with the original cast.
I vividly remember when I "got" the idea that all of this was *for* *me*. It
wasn't just a big, fabulous time and I got to go with all the other kids. *I*
was the *reason*. I was that important, to *somebody* -- even though I was
just me. The top of my head just about blew off. I literally wandered around
slightly dazed for quite a large chunk of that party just processing that
fact. I remember stating the proposition out loud, to the air, several times,
the way you sometimes do when confronting some incontrovertible fact that is
nevertheless blatantly too good to be even remotely possible. My feet were not
touching the ground. Thanks, Mom; that day is *burned* into my memory. I wish
everyone could be that happy once in his life.
Canadian islands. The World Fair, in 1967, was in Montreal. So my mother
packed up me & my sisters and hauled us off to Expo'67. Which was cool, but
after that, we went to some other region in Canada, uh, "thousand lakes"?,
jumped in a tiny outboard boat with this grizzled old guy and a nanny, and
motored to this isolated little island. By "little" I mean that I could walk
the perimeter, as a 6-year-old, in under 5 minutes. It was *beautiful*. We
played games -- hide and seek in the day and board games at night -- and
walked around, and I hung out with this grizzled old guy that talked funny,
eh?, and had hair in his ears, while he puttered with the boat engine. The
bark on the trees peeled off (no birch in Georgia) So, moral: A small child
understands and enjoys great natural beauty.
I have no constructive advice to offer (and certainly nothing on the topic of
future parenting, whoa), except to say that you don't seem to need any advice.
It's unbelievable how right your every action and reaction has been through
this process. The brains and insight -- by which I mean wisdom, more than
intelligence -- that illuminate your commentary are spectacular, even down to
the sunlight and life that is shot through the darkness and death.
I wonder if your experience with Hall -- especially your last good-time trip
out to visit -- helped get your heads into the idea of doing as much fabulous
living as you can manage while in the shadow of inevitable death. (Which is a
good lesson for everyone, every day, in actual fact.) Boy, overcode got that
one right; you just know he didn't even have to think it through, he just knew
it in his bones.
You are all are in my thoughts.
With love,
--Olin Shivers, Matthew's Ph.D. Advisor & Friend
I had to stop for a minute and take it in two pieces. The whole idea of a baby
bucket list is so wrong -- not the idea, but that one would live in a universe
in which a BBL was the right, excellent idea, that's what's wrong.
I am travelling (to obvious places), but will ring when I get home on Monday.
I have thought a little bit about my own childhood. Here are my BBL ideas.
Probably my #1 lifetime best memory -- I mean *peaking out* here, never
bettered by anything that has ever happened since -- is a block party that my
mom threw for my 4th or 5th birthday. You've seen my home and the quiet little
street in Buckhead where I grew up. We had freaking *ponys*. With carts.
They'd pick you up in the turnaround in front of my house, then give you a
ride down the hill to W. Andrews Dr. and take you up and down the street, then
back up the drive to my house. I think there was a magician. It was a *blowout*
-- World War II, with the original cast.
I vividly remember when I "got" the idea that all of this was *for* *me*. It
wasn't just a big, fabulous time and I got to go with all the other kids. *I*
was the *reason*. I was that important, to *somebody* -- even though I was
just me. The top of my head just about blew off. I literally wandered around
slightly dazed for quite a large chunk of that party just processing that
fact. I remember stating the proposition out loud, to the air, several times,
the way you sometimes do when confronting some incontrovertible fact that is
nevertheless blatantly too good to be even remotely possible. My feet were not
touching the ground. Thanks, Mom; that day is *burned* into my memory. I wish
everyone could be that happy once in his life.
Canadian islands. The World Fair, in 1967, was in Montreal. So my mother
packed up me & my sisters and hauled us off to Expo'67. Which was cool, but
after that, we went to some other region in Canada, uh, "thousand lakes"?,
jumped in a tiny outboard boat with this grizzled old guy and a nanny, and
motored to this isolated little island. By "little" I mean that I could walk
the perimeter, as a 6-year-old, in under 5 minutes. It was *beautiful*. We
played games -- hide and seek in the day and board games at night -- and
walked around, and I hung out with this grizzled old guy that talked funny,
eh?, and had hair in his ears, while he puttered with the boat engine. The
bark on the trees peeled off (no birch in Georgia) So, moral: A small child
understands and enjoys great natural beauty.
I have no constructive advice to offer (and certainly nothing on the topic of
future parenting, whoa), except to say that you don't seem to need any advice.
It's unbelievable how right your every action and reaction has been through
this process. The brains and insight -- by which I mean wisdom, more than
intelligence -- that illuminate your commentary are spectacular, even down to
the sunlight and life that is shot through the darkness and death.
I wonder if your experience with Hall -- especially your last good-time trip
out to visit -- helped get your heads into the idea of doing as much fabulous
living as you can manage while in the shadow of inevitable death. (Which is a
good lesson for everyone, every day, in actual fact.) Boy, overcode got that
one right; you just know he didn't even have to think it through, he just knew
it in his bones.
You are all are in my thoughts.
With love,
--Olin Shivers, Matthew's Ph.D. Advisor & Friend
March 7, 2009
Letter from Sabrina
I am a fan of Chuck E Cheese. We can throw Beli in the ball bit and let the little kids beat her up, and I'll take embarrassing Facebook pictures! hehe.
Bertrand definitely couldn't have ask for better parents. My only suggestion for the list is to continue doing what you and Matt are doing- to love him. Let him know every minute that you love him. Because you don't know you won't be able to say it anymore. Not everyone is fortunate enough to experience that type of love. In that aspect, if you ask me- he is a pretty lucky kid.
Love you! Call me anytime!
--Sabrina Casanova, Bertrand's Aunt
Bertrand definitely couldn't have ask for better parents. My only suggestion for the list is to continue doing what you and Matt are doing- to love him. Let him know every minute that you love him. Because you don't know you won't be able to say it anymore. Not everyone is fortunate enough to experience that type of love. In that aspect, if you ask me- he is a pretty lucky kid.
Love you! Call me anytime!
--Sabrina Casanova, Bertrand's Aunt
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