If you're on this site, it's because you've newly become acquainted with a genetic disorder called Sandhoff's Disease. My goal with this blog site is to increase awareness about the occurrences of Sandhoff Disease in Arizona and throughout the United States.
Dubbed, "an orphan disease", Sandhoff's receives little attention, and by consequence, little funding for medical research. All the while, children are dying and families are ripped apart by the ravages of this neurological wasting disorder.
Through raising awareness, I believe the right people will get involved to continue the fight to find a cure as well as implement support systems for the ones suffering right now.
Thank you for visiting this site. Please remember to check back often - or subscribe for updates!
Thursday, June 5, 2008
What Next?
Michael Crichton has quite a grasp on the current and future issues of the genetic research frontier. It is quite scary what could be in store for us in the future. I just finished reading his novel "Next" about the ethics of genetic research and its commercialization through gene patents. Yes, like somebody or some corporate/academic entity can actually OWN a disease or a gene that exists in your body...and then jack up the price on research because they require their patent fees (similar to royalties) each time their gene is used/referenced/etc. And we're all complaining about being extorted on gas prices! This could be the next thing coming our way!
I hope you know what I am getting at here, by posting this to a blog about a genetic disorder that needs more research ...
Anyway, here's the author's official website and his essay on the real life topic. Enjoy.
http://www.crichton-official.com/essay-nytimes-patentinglife.html
I hope you know what I am getting at here, by posting this to a blog about a genetic disorder that needs more research ...
Anyway, here's the author's official website and his essay on the real life topic. Enjoy.
http://www.crichton-official.com/essay-nytimes-patentinglife.html
Steps Closer to A Cure
For those that are interested. The following is information I dug up on a patent for Sandhoff gene therapy/treatment -- just by doing a Google search. Below is a link and an excerpt of the text:
http://www.patentstorm.us/patents/5798366/description.html
"The data outlined herein demonstrate that oral treatment of mice with NB-DNJ is well tolerated and that it results in the inhibition-of GSL biosynthesis. Furthermore, in the Tay-Sachs mouse, which exhibits progressive CNS storage of GM2 ganglioside, we have been able to prevent storage, as a consequence of reducing GSL biosynthesis. This indicates that NB-DNJ can cross the blood:brain barrier to an extent which can prevent storage.
This therefore indicates that substrate deprivation resulting from NB-DNJ administration is a rational strategy for the therapy of the human GSL lysosomal storage diseases. It has been shown in vitro that NB-DNJ specifically inhibits the first step in GSL biosynthesis, the glucosyl-transferase catalyzed biosynthesis of GlcCer (5-7).
As several of the human glycosphingolipid (GSL) storage diseases involve the storage of GlcCer-based GSLs, this therapeutic strategy can be applied to all of these disease states, irrespective of the specific storage product. This would include Gaucher (types 1, 2 and 3), Fabry disease, Tay-Sachs disease, Sandhoff disease, GM1 gangliosidosis, and fucosidosis.
The current application of enzyme replacement to Gaucher disease is limited by the fact that the enzyme cannot cross the blood:brain barrier and hence this therapy is only efficacious in type 1 disease where there is no neuropathology involved. Our finding that GSL depletion can be achieved in the central nervous system is therefore of major significance as it means that all the GSL storage diseases could be treated with NB-DNJ, as many of them involve neuropathology in the CNS."
http://www.patentstorm.us/patents/5798366/description.html
"The data outlined herein demonstrate that oral treatment of mice with NB-DNJ is well tolerated and that it results in the inhibition-of GSL biosynthesis. Furthermore, in the Tay-Sachs mouse, which exhibits progressive CNS storage of GM2 ganglioside, we have been able to prevent storage, as a consequence of reducing GSL biosynthesis. This indicates that NB-DNJ can cross the blood:brain barrier to an extent which can prevent storage.
This therefore indicates that substrate deprivation resulting from NB-DNJ administration is a rational strategy for the therapy of the human GSL lysosomal storage diseases. It has been shown in vitro that NB-DNJ specifically inhibits the first step in GSL biosynthesis, the glucosyl-transferase catalyzed biosynthesis of GlcCer (5-7).
As several of the human glycosphingolipid (GSL) storage diseases involve the storage of GlcCer-based GSLs, this therapeutic strategy can be applied to all of these disease states, irrespective of the specific storage product. This would include Gaucher (types 1, 2 and 3), Fabry disease, Tay-Sachs disease, Sandhoff disease, GM1 gangliosidosis, and fucosidosis.
The current application of enzyme replacement to Gaucher disease is limited by the fact that the enzyme cannot cross the blood:brain barrier and hence this therapy is only efficacious in type 1 disease where there is no neuropathology involved. Our finding that GSL depletion can be achieved in the central nervous system is therefore of major significance as it means that all the GSL storage diseases could be treated with NB-DNJ, as many of them involve neuropathology in the CNS."
Wednesday, June 4, 2008
RE: Theresa Villalpando
This sweet baby lives in Avondale, AZ. Her relatives are maintaining a MySpace account for her. If you like, please visit: http://www.myspace.com/helpteresa or email the family at TeresaVillalpando@live.com.
RE: Sara Bisker
Please note that I do not have any malicious intent towards Sara Bisker, reporter for the West Valley View. She seems a kind person, and I was deeply grateful for her response to me. However, I did feel the need to print my own record of correction here. That is my only intent.
My apologies for any offense or unpleasant confrontation caused by this post. I am not inclined to launching professional [or personal] attacks on anyone. I hope you can understand. If not, well that's your 100% red-blooded American right [to disagree]. Please feel free to comment on the post.
My apologies for any offense or unpleasant confrontation caused by this post. I am not inclined to launching professional [or personal] attacks on anyone. I hope you can understand. If not, well that's your 100% red-blooded American right [to disagree]. Please feel free to comment on the post.
The Spark before the Firestorm
On May 16, 2008, at 8:19 AM, Sara Bisker wrote:
Mrs. Medrano,
Thank you from the bottom of my heart for writing to me about your own experience with a child of Sandhoff disease. I meant no harm to you or your family and apologize for my lack of knowledge in writing that Teresa was the only documented case. I received this information from Mrs. Roberts and her daughter’s doctors. Obviously, and for reasons unknown to me, they either did not know there were other Arizona cases or else chose not to inform me of this.
With that said, it is no excuse for my choice of words and any affect my writing had on you and yours.
My deepest apologies go out to you,
Sara
From: Amber Medrano [mailto:amber.medrano@cox.net]
Sent: Friday, May 16, 2008 2:17 AM
To: sbisker@westvalleyview.com
Cc: publisher@westvalleyview.com; editor@westvalleyview.com; David & Amber Medrano; Dr. Daniel Tinlin; updates@shanesnotebook.com
Subject: Re: "A Mother's Hope" 5/13/08
Sara,
I am reflecting tonight on the tone of my voicemail that I left you earlier this evening on 5/15/08. After much sleeplessness and anxious thought, I have arrived at the conclusion that I do need to apologize to you for any harshness that may have been in my voice at that moment. Please understand, I am a woman in pain. Reading your article (at first glance) was merely salt in my wound. I ask you now to excuse my initial reaction. I do apologize for the tone of my voicemail message. However, I am still compelled to call attention to a grievous error in your report.
In your article, you stated that Mrs. Liahla Robert's daughter, Teresa, was suffering from Sandhoff's disease - a disease so rare that hers was the "only documented case in Arizona". I regret to inform you that this is not a true statement. I implore you to stringently verify your facts before printing a statement such as this. You have no idea how much this sentence has affected me over the past 48 hours - and I am sure that I am not the only one.
My son, Shane Medrano, suffered from Sandhoff's disease. We live in Phoenix. My husband and I are Arizona natives (he was raised in Tolleson, I was raised in Glendale/Peoria). Born in April 2002, Shane was diagnosed in August 2003 and he died in October 2006. He had excellent care and his case was extremely well documented by me. Please know that I have fought every emotion in my being to refrain from bringing all three of the 5 inch notebooks I used to document Shane's journey down to the office of the West Valley View, along with the MRI scans, med sheets, the private duty nursing charts, the hospital records, the pediatrician's file, the Early Intervention sheets, the ALTC and DDD paperwork, the Fowler School District IEP's as well as my own personal research and reports. You see, I kept it all. It is indexed and cross-referenced. It is very neat, organized and thorough. But instead of making a completely raging, hysterical idiot of myself, I will refer you to the less technical online records I've kept for him at http://www.shanesnotebook.com and http://www.alwaysamazingamber.com/?page_id=9. I invite you to dig through the entries on Shane's website in particular, and note the information from November 08, 2004 and July 07, 2005 from the "Mom's Notes" section of the "Journals" menu.
Again, I am trying so hard to take the bite out of my tone. It is with much trembling and bitterness that I write to you tonight. And all I can do is apologize. I am truly sorry. You are not the object of this pain, and I don't mean to project it on to you. It is a heavy burden that I bear.
Please know that this communication with you is not without its sorrow or sympathy for Mrs Roberts and sweet little Teresa. I have been where there are now. I pray that God continues to extend them the little mercies He granted to us during such a terrible time. Donations of a wheel chair and deliveries of extra supplies from nurses doing good deeds were things that we survived on during the times of greatest need. But I think the biggest thing she and her daughter will need is love and strong emotional support. There will be times when Mrs. Roberts will need to fall apart, and strong caring people need to be there to catch her. As for me, I will remember to pray for her every night, and I will do my best to stay updated on her progress. If she is in need of any resources, I make all my hard-earned learning available to her.
To that end: If she needs to talk to doctors that have seen this before, Shane was cared for by the great staff of nurses and doctors at St. Joseph's Hospital and Barrow's Neuro Inst. He had fantastic at-home nursing care from Gentiva Home Healthcare paid through a bevy of private insurances and through Arizona Long-Term Care (ALTC) and the Department of Developmental Disabilities (DDD). He had a wonderful and loving pediatrician in Dr. Daniel Tinlin (I swear he's a saint!). Shane was also impeccably cared for by the amazing husband and wife doctor duo of Mr. Gregory and Cynthia Legris (pediatric pulmonologist). I mean it, these two were like Shane's personal guardian angels!! And Shane had the best customer service from the kindest pharmacist I've ever had the pleasure to meet, Mr. Steven Do (and I believe he's still in Buckeye btw). And there are many more names and faces of professionals that cared for Shane, and I am happy to share them all.
God Bless Mrs. Roberts, little Teresa and their family.
Sincerely,
Amber Medrano
P.S. I meant what I said about contacting the NIH, CDC, or any other national medical research organization to consider investigating the resurfacing of such "rare" genetic neurological disorders such as Sandhoff's in Arizona. Genetically, for a child to be affected, both the father and the mother must carry the Sandhoff gene. It is generally prevalent among specific populations and closed communities where the occurrences of a recessive gene would be multiplied. My husband and I were from entirely different ethnic backgrounds, and in theory, least likely to encounter a match for this recessive gene. I would bet big money that Shane and Teresa are not the only occurrences of Sandhoff's in AZ. They were just lucky enough to have a diagnosis.
Mrs. Medrano,
Thank you from the bottom of my heart for writing to me about your own experience with a child of Sandhoff disease. I meant no harm to you or your family and apologize for my lack of knowledge in writing that Teresa was the only documented case. I received this information from Mrs. Roberts and her daughter’s doctors. Obviously, and for reasons unknown to me, they either did not know there were other Arizona cases or else chose not to inform me of this.
With that said, it is no excuse for my choice of words and any affect my writing had on you and yours.
My deepest apologies go out to you,
Sara
From: Amber Medrano [mailto:amber.medrano@cox.net]
Sent: Friday, May 16, 2008 2:17 AM
To: sbisker@westvalleyview.com
Cc: publisher@westvalleyview.com; editor@westvalleyview.com; David & Amber Medrano; Dr. Daniel Tinlin; updates@shanesnotebook.com
Subject: Re: "A Mother's Hope" 5/13/08
Sara,
I am reflecting tonight on the tone of my voicemail that I left you earlier this evening on 5/15/08. After much sleeplessness and anxious thought, I have arrived at the conclusion that I do need to apologize to you for any harshness that may have been in my voice at that moment. Please understand, I am a woman in pain. Reading your article (at first glance) was merely salt in my wound. I ask you now to excuse my initial reaction. I do apologize for the tone of my voicemail message. However, I am still compelled to call attention to a grievous error in your report.
In your article, you stated that Mrs. Liahla Robert's daughter, Teresa, was suffering from Sandhoff's disease - a disease so rare that hers was the "only documented case in Arizona". I regret to inform you that this is not a true statement. I implore you to stringently verify your facts before printing a statement such as this. You have no idea how much this sentence has affected me over the past 48 hours - and I am sure that I am not the only one.
My son, Shane Medrano, suffered from Sandhoff's disease. We live in Phoenix. My husband and I are Arizona natives (he was raised in Tolleson, I was raised in Glendale/Peoria). Born in April 2002, Shane was diagnosed in August 2003 and he died in October 2006. He had excellent care and his case was extremely well documented by me. Please know that I have fought every emotion in my being to refrain from bringing all three of the 5 inch notebooks I used to document Shane's journey down to the office of the West Valley View, along with the MRI scans, med sheets, the private duty nursing charts, the hospital records, the pediatrician's file, the Early Intervention sheets, the ALTC and DDD paperwork, the Fowler School District IEP's as well as my own personal research and reports. You see, I kept it all. It is indexed and cross-referenced. It is very neat, organized and thorough. But instead of making a completely raging, hysterical idiot of myself, I will refer you to the less technical online records I've kept for him at http://www.shanesnotebook.com and http://www.alwaysamazingamber.com/?page_id=9. I invite you to dig through the entries on Shane's website in particular, and note the information from November 08, 2004 and July 07, 2005 from the "Mom's Notes" section of the "Journals" menu.
Again, I am trying so hard to take the bite out of my tone. It is with much trembling and bitterness that I write to you tonight. And all I can do is apologize. I am truly sorry. You are not the object of this pain, and I don't mean to project it on to you. It is a heavy burden that I bear.
Please know that this communication with you is not without its sorrow or sympathy for Mrs Roberts and sweet little Teresa. I have been where there are now. I pray that God continues to extend them the little mercies He granted to us during such a terrible time. Donations of a wheel chair and deliveries of extra supplies from nurses doing good deeds were things that we survived on during the times of greatest need. But I think the biggest thing she and her daughter will need is love and strong emotional support. There will be times when Mrs. Roberts will need to fall apart, and strong caring people need to be there to catch her. As for me, I will remember to pray for her every night, and I will do my best to stay updated on her progress. If she is in need of any resources, I make all my hard-earned learning available to her.
To that end: If she needs to talk to doctors that have seen this before, Shane was cared for by the great staff of nurses and doctors at St. Joseph's Hospital and Barrow's Neuro Inst. He had fantastic at-home nursing care from Gentiva Home Healthcare paid through a bevy of private insurances and through Arizona Long-Term Care (ALTC) and the Department of Developmental Disabilities (DDD). He had a wonderful and loving pediatrician in Dr. Daniel Tinlin (I swear he's a saint!). Shane was also impeccably cared for by the amazing husband and wife doctor duo of Mr. Gregory and Cynthia Legris (pediatric pulmonologist). I mean it, these two were like Shane's personal guardian angels!! And Shane had the best customer service from the kindest pharmacist I've ever had the pleasure to meet, Mr. Steven Do (and I believe he's still in Buckeye btw). And there are many more names and faces of professionals that cared for Shane, and I am happy to share them all.
God Bless Mrs. Roberts, little Teresa and their family.
Sincerely,
Amber Medrano
P.S. I meant what I said about contacting the NIH, CDC, or any other national medical research organization to consider investigating the resurfacing of such "rare" genetic neurological disorders such as Sandhoff's in Arizona. Genetically, for a child to be affected, both the father and the mother must carry the Sandhoff gene. It is generally prevalent among specific populations and closed communities where the occurrences of a recessive gene would be multiplied. My husband and I were from entirely different ethnic backgrounds, and in theory, least likely to encounter a match for this recessive gene. I would bet big money that Shane and Teresa are not the only occurrences of Sandhoff's in AZ. They were just lucky enough to have a diagnosis.
My Experience with Sandhoff Disease
Above is a picture of Shane just about a week before he passed away. You can see he is so tired. But he is still our little Shane-Shane Mouse...
My life has been changed in many profound ways through my children. The changes they brought allowed me to participate in and observe many facets of the human existence - everything from joy, hope, and wonder at their sudden entrance to pain, desperation, and anger at their slow and suffering twilight. These extremes of the change spectrum created a prismatic effect on my life, which has made me who I am today - for better, and for worse, as exemplified by the choices I have made. Yet, for the better, I have experienced all the aspects of raising a child, attending to their special needs, and strenuously advocating for their survival, care, and basic rights. Below is listed some of the numerous resources available. To anyone that has ever had a child touch their life, I encourage them to read, learn and share. A child somewhere is depending on it.
My oldest child, Nathaniel, is affected by Autism. He is now seven years old (2008) and is a high-functioning, yet non-verbal child. Many people that meet him will tell you he is an articulate child, full of keen talents and skills we are only beginning to understand. Many of his behaviors are the result of aptitudes that do not contextually integrate with our (non-Autistic) relation to the world around us. But for Nathaniel, it all makes perfect sense. His father and I understand that, and we continue to believe that he will talk very soon.
My youngest son, Shane, was born in April 2002 and passed away in October 2006 from a rare genetic condition called Sandhoff’s Disease. It is caused by a recessive gene carried by both mother and father. Medically defined, it is a lipid storage disorder resulting in the progressive deterioration of the central nervous system. It is caused by a deficiency of the enzyme beta-hexosaminidase, which results in the accumulation of certain fats (particular lipids called GM2 gangliosides) in the brain and other organs of the body. Sandhoff disease is a severe form of Tay-Sachs disease–which is prevalent primarily in people of Eastern European and Ashkenazi Jewish descent–but it is not limited to any ethnic group. Onset of the disorder usually occurs at 6 months of age. Neurological symptoms may include motor weakness, startle reaction to sound, early blindness, progressive mental and motor deterioration, macrocephaly (an abnormally enlarged head), cherry-red spots in the eyes, seizures, and myoclonus (shock-like contractions of a muscle). Other symptoms may include frequent respiratory infections, doll-like facial appearance, and an enlarged liver and spleen. Shane suffered through all of these things, as if a text book case. However, he had excellent care while he was with us and a family who loved him very much. Prior to the start of his seizures and full blown onset of the disease, Shane was a very happy, sweet baby. He was always laughing, cooing, and looking to meet your gaze. As the disease began to manifest, he endured the symptoms with the same sweet demeanor.
For more information on the disease, please contact these organizations:
National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Suite 204
Brighton, MA 02135
USA
Tel: 6172774463
Fax: 6172770134
Tel: 8009068723
Email: info@ntsad.org
Internet: http://www.NTSAD.org
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com
National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/
www.sandhoff.org
8825 Hastings Blvd.
Hastings, FL 32145
Tel: (386)202-0018
Email: admin@sandhoff.org
Internet: http://www.sandhoff.org
Hide & Seek Foundation for Lysosomal Disease Research
4123 Lankershim Blvd.
Suite 302
North Hollywood, CA 91602-2828
Tel: (818)762-8621
Fax: (818)762-2502
Email: info@hideandseek.org
Internet: http://www.hideandseek.org
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