Posts Tagged “newborn screening”
Posted on August 13th, 2009 by Steph in Lysosomal Disease, tags: 100% to Research, Addi and Cassi Hempel, Alec Baldwin, amy shade, autophagy, blindness, Brain Disease, childrens disease, deirdra storm, dwarfism, enzyme, enzyme replacement therapy, fabry, fucosidosis, gaucher, genetic, genetics, george wolfe, Hide & Seek Boutique, hide and seek boutique, john hopwood, Lysosomal, Lysosomal Disease, lysosome, metabolic, metabolic disease, mps, Mucolipidosis, muscular dystrophy, newborn screening, niemann pick, Niemann-Pick Type C disease, osteoarthritus, parents, philanthropic, pompe, Rare Disease, religion, stephanie lyn, tay sachs, tristen cortes
So did you ever wonder what happens to the tadpole’s tail? Does it just fall off? No actually. Lysosomes eat it. (autophagy: the cell’s ability to eat itself…) And the webbing in our fingers and toes as fetus’s. Eaten by lysosomes.
This is a great, short and extremely informative piece on these tiny little organelles that are so important to our well-being.
Is the lysosome the first place we should look when we have issues in the body? Not the last? Hmmmm…
xoxo,
s
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Posted on May 21st, 2009 by Steph in Lysosomal Disease, tags: 100% to Research, abortion, Add new tag, Addi and Cassi Hempel, Alec Baldwin, blindness, brain, Brain Disease, childrens disease, danny rose, dwarfism, enzyme, enzyme replacement therapy, genetic, genetics, Hide & Seek Boutique, Hide & Seek Foundation, infants, john hopwood, jonathan jacoby, Lysosomal, Lysosomal Disease, lysosome, metabolic, metabolic disease, Mucolipidosis, muscular dystrophy, newborn screening, niemann pick, Niemann-Pick Type C disease, osteoarthritus, parents, philanthropic, philanthropy, rabbi, Rare Disease, religion, stephanie lyn, tay sachs
The following article was released today by Dr. John Hopwood, who also sits on the International Scientific Advisory Board of the Hide & Seek Foundation. I find it to be the first article that I have read, that I haven’t written, to accurately address the issue of Lysosomal Disease today, as it affects us all. Each and every one of us has lysosomes, and if there is any problem at all within this ultra important organelle, the result can be any number of the most common human (and animal) conditions known to us. It is absolutely time to pay attention.
- Stephanie
Cell malfunction linked to many diseases
Danny Rose
May 21, 2009 – 1:04AM
The tiny “recycling unit” at the core of every human cell can fail, and research is increasingly placing this malfunction at the root of a host of common deadly illnesses.
Alzheimer’s disease, stroke, heart disease and certain cancers can all be linked to a dysfunction of the lysosome, says South Australian biochemical geneticist Professor John Hopwood.
“You might think these lysosomal diseases are uncommon but in fact we’ve been studying the tip of an iceberg,” Prof Hopwood says.
“The more we study these disorders … it turns out the lysosome has a big role to play in many illnesses that the community has.”
Lysosomal disease is a process which sees affected human cells lose their ability to create new versions of themselves, instead becoming clogged as genetic “material gets into the recycler but can’t get out”, Prof Hopwood explains.
His team at Adelaide’s Women’s and Children’s Hospital led the development of world-first treatments for two rare lysosomal diseases – Maroteaux-Lamy and Hunter syndromes.
These and other Lysosomal disease occur in one in every thousand children and it results in developmental delays, bone deformities, heart and breathing difficulties, behavioural problems and a shortened life span.
Prof Hopwood has also developed a test able to highlight these genetic conditions in newborns, allowing treatment to get underway before irreversible features develop.
While his work has focused on treating children with these rare conditions, Prof Hopwood says the field’s future would also go to unearthing the links between lysosomal disorders and common diseases.
In the brain, the disorder was known to lead to the loss of brain matter which, over time, could manifest as Alzheimer’s or dementia.
“Where you have heart failure because a valve doesn’t function properly, it may be due to poor signalling by control systems that are influenced by these lysosomal storage disease problems,” Prof Hopwood says.
“So these rare diseases give us an insight into the ‘berg’ part of the ‘iceberg’, which is affecting the majority of us.
“And if we can understand how it contributes then we can reduce the impact of all of these disorders in the community.”
The Australian Academy of Technological Sciences and Engineering (ATSE) paid tribute to Prof Hopwood for his 25 years work in the field at a gala event in Sydney on Wednesday night.
He was announced as one of the recipients of a 2009 ATSE Clunies Ross Award, which recognises the nation’s pre-eminent scientists who have bridged the gap between research and the marketplace.
© 2009 AAP
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Posted on May 12th, 2009 by Steph in Lysosomal Disease, Lysosomal Disease in the News, Parent & Patient Contact, tags: abortion, brain, Brain Disease, childrens disease, disease, infants, Lysosomal, lysosome, metabolic, newborn screening, niemann pick, parents, rabbi, Rare Disease, religion, tay sachs
Imagine you’re pregnant and you’ve just learned that the baby has Lysosomal Disease.
Chances are you have never heard of this condition before, then you’re told how incredibly devastating the progression of the disease is. But you aren’t you told whether your fetus has the most severe, fatal type of Lyso-disease. Below is the plight of a woman faced with making the awful decision of whether or not to terminate such a pregnancy (found originally on commonsensesd.org).
What does Jewish law/halacha say about abortion when the baby will not be able to have a normal life?
My husband and I are Jewish. I’m pregnant but I found out recently that the baby has Tay-Sachs. I’m thinking of just getting an abortion because the baby wont be able to live a normal life and will be subjected to suffering anyway. What does Jewish law say about this?
(please don’t answer if you don’t really know what you’re talking about. I want to have the answers of people who are actually Jewish)
You should consult a rabbi who is a posek qualified to decide on such legal matters) before you make any decision.
This is what I was able to find on the topic:
As a rule, Jewish law does not assign relative values to different lives. Therefore, almost most major poskim (Rabbis qualified to decide matters of Jewish law) forbid abortion in cases of abnormalities or deformities found in a fetus. Rabbi Moshe Feinstein, one the greatest poskim of the past century, rules that even amniocentesis is forbidden if it is performed only to evaluate for birth defects for which the parents might request an abortion. Nevertheless, a test may be performed if a permitted action may result, such as performance of amniocentesis or drawing alpha-fetoprotein levels for improved peripartum or postpartum medical management.
While most poskim forbid abortion for “defective” fetuses, Rabbi Eliezar Yehuda Waldenberg is a notable exception. Rabbi Waldenberg allows first trimester abortion of a fetus that would be born with a deformity that would cause it to suffer, and termination of a fetus with a lethal fetal defect such as Tay Sachs up to the seventh month of gestation.14 The rabbinic experts also discuss the permissibility of abortion for mothers with German measles and babies with prenatal confirmed Down syndrome.
This entry was posted on Tuesday, May 12th, 2009 at 1:16 am and is filed under Abortion law. You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response, or trackback from your own site.
If I had found out in utero that my son, Tristen, now 13, had Lysosomal Disease–he specifically has Niemann Pick–I would most definitely have had an abortion. You see, Tristen has type B Niemann Pick, which is like a juvenile onset of Tay Sachs, Gaucher or any of the other LysoDiseases. But today’s technology is only sufficient enough to tell us of the disease’s presence in fetuses, not it’s severity. They couldn’t have told me he’d be alive today and happy and healthy and the joy of my life.
Like the mother whose story is above, I too had an amnio because my Alpha Fetal Protein test come back positive (it ended up being a false positive, due tothe blood in my amniofluid) and, because doctors don’t screen for Neimann Pick in those genetic testings, we were cleared with a false positive and thought everything was fine. Interesting.
I hate that there are moms (and dads, too) out there that have to decide the outcomes of their children’s lives based off these inconclusive test results.
I wonder if the medical community has the ability to differentiate between the most severe cases of infantile Tay Sachs and the later adult onset variety. I wonder if it makes a difference to these, or any, parents. This situation is so personal that there can’t be a blanket right or wrong answer, can there?
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Posted on April 30th, 2009 by Steph in Lysosomal Disease, tags: 100% to Research, Addi and Cassi Hempel, Alec Baldwin, childrens disease, disease, dwarfism, enzyme, enzyme replacement therapy, Hide & Seek Boutique, Hide & Seek Foundation, Lysosomal Disease, lysosome, metabolic disease, Mucolipidosis, newborn screening, Niemann-Pick Type C disease, tay sachs
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