Share/Bookmark

Topics

Did you forget something…

Dementia is something that is usually associated with older people. However, children, teenagers and young adults can experience dementia as a result of a number of rare diseases and conditions. Niemann-Pick Disease Type C (NPC) is an example of one of these diseases, and one of its main symptoms is dementia. (Hinton et al, 2005)
AccessDNA community leader badge graphic

Meet Brisan & Parker

Bath Time

Put in Perspective

What is NP-C?

Dr. Marc Patterson on NP-C

Blogroll

Brisan & Parker

RSS Addi & Cassi Hempel

RSS Web Of Hope

  • New non-drug fix for HIV?
    The Scientist Magazine By Alison McCook 30th June 2009 Researchers are slowly establishing a connection between an extremely rare genetic disease and HIV — and homing in on a safe, non-prescription compound that could treat both. Recently, James Hildreth at the Meharry Medical College School of Medicine in Nashville, Tenn., and his colleagues found that cell […]
  • Wacker Chemie Expands US Based Cyclodextrin Facility To Meet Increase In Worldwide Demand For Sugar Molecule
    Wacker Chemie, the Munich-based chemical company, announced that is has expanded its US based cyclodextrin facility in Eddyville, Iowa.  According the the press release issued by Wacker, the new cyclodextrin facility increases the company’s capacity for alpha (α) and beta (β) cyclodextrins by 50 percent and doubles its capacity for gamma (γ) cyclodextrins. I […]

Archives

  • 18Mar

    Capture-BriParDun.com site. Check out the redesign. Sign up for email updates!

    I wanted to post an update for everyone that comes to this site we have for the boys. I’ve taken a long time to “pull the trigger” in redesigning www.BriParDun.com because we had many people linked to our site but at the time wordpress didn’t have a solution to account for “.html” on the links (not one I at least knew of or could find). They’ve now have made that an option that allows us to preserve links on our site that other people have.

    It is still a work in progress and the plans our to update that blog as the main point of communication with everyone that is so loving and caring for our family to receive updates. Make sure to sign up for email updates so you don’t have to keep coming to the site and checking manually!

    So keep an “eye” out for new posts on that site!

    Thanks again!

    Mike

    Tags: , , , , , , , , ,

  • 13Feb

    Social Security Adds 38 New Medical Conditions that Qualify for Disability Help


    Adding new conditions, like early-onset Alzheimer’s disease, will speed benefits to thousands of disabled

    DoctorFeb. 12, 2010 – The latest move by the Social Security Administration, in an ongoing effort to speed up the decision process for consideration of applications for disability benefits to those not yet age 65, is the addition of 38 new medical conditions to the list of Compassionate Allowances, which clearly qualify applicants. The new conditions range from early-onset Alzheimer’s disease to rare diseases that primarily affect children.


    This is the first expansion since the original list of 50 conditions – 25 rare diseases and 25 cancers – was announced in October 2008, according to the announcement yesterday by Michael J. Astrue, Commissioner of Social Security.

    The complete list of the newly recognized medical conditions that clearly qualify patients for Social Security and Supplemental Security Income disability benefits – Compassionate Allowance conditions – is below.

    “The addition of these new conditions expands the scope of Compassionate Allowances to a broader subgroup of conditions like early-onset Alzheimer’s disease,” Commissioner Astrue said.

    “The expansion we are announcing today means tens of thousands of Americans with devastating disabilities will now get approved for benefits in a matter of days rather than months and years.”

    The quick identification of these conditions allows the agency to electronically target and make speedy decisions for the most obviously disabled individuals.

    In developing the expanded list of conditions, Social Security held public hearings and worked closely with the National Institutes of Health, the Alzheimer’s Association, the National Organization for Rare Disorders, and other groups.

    “The diagnosis of Alzheimer’s indicates significant cognitive impairment that interferes with daily living activities, including the ability to work,” said Harry Johns, President and CEO of the Alzheimer’s Association.

    “Now, individuals who are dealing with the enormous challenges of Alzheimer’s won’t also have to endure the financial and emotional toll of a long disability decision process.”


    “This truly innovative program will provide invaluable assistance and support to patients and families coping with severely disabling rare diseases,” said Peter L. Saltonstall, President and CEO of the National Organization for Rare Disorders (NORD).

    “On behalf of those patients and families, I want to thank Commissioner Astrue and his enthusiastic team for creating and now expanding a program that will have a direct impact on the quality of life of thousands of individuals.”

    “The initiative not only assists those whose applications are quickly processed, but also assists those whose applications need more time and attention from SSA adjudicators,” said Marty Ford, Co-Chair, Social Security Task Force, Consortium for Citizens with Disabilities.

    “We are pleased to see today’s expansion and look forward to working with Commissioner Astrue on further expansion of this decision-making tool and other ways to expedite determinations and decisions for disability claims.”

    “We will continue to hold hearings and look for other diseases and conditions that can be added to our list of Compassionate Allowances,” Commissioner Astrue said.  “There can be no higher priority than getting disability benefits quickly to those Americans with these severe and life-threatening conditions.”

    Social Security will begin electronically identifying these 38 new conditions March 1.

    For more information about the agency’s Compassionate Allowances initiative, go to www.socialsecurity.gov/compassionateallowances.

    New Compassionate Allowance Conditions


    1.                  Alstrom Syndrome

    2.                  Amegakaryocytic Thrombocytopenia

    3.                  Ataxia Spinocerebellar

    4.                  Ataxia Telangiectasia

    5.                  Batten Disease

    6.                  Bilateral Retinoblastoma

    7.                  Cri du Chat Syndrome

    8.                  Degos Disease

    9.                  Early-Onset Alzheimer’s Disease

    10.              Edwards Syndrome

    11.              Fibrodysplasia Ossificans Progressiva

    12.              Fukuyama Congenital Muscular Dystrophy

    13.              Glutaric Acidemia Type II

    14.              Hemophagocytic Lymphohistiocytosis (HLH), Familial Type

    15.              Hurler Syndrome, Type IH

    16.              Hunter Syndrome, Type II

    17.              Idiopathic Pulmonary Fibrosis

    18.              Junctional Epidermolysis Bullosa, Lethal Type

    19.              Late Infantile Neuronal Ceroid Lipofuscinoses

    20.              Leigh’s Disease

    21.              Maple Syrup Urine Disease

    22.              Merosin Deficient Congenital Muscular Dystrophy

    23.              Mixed Dementia

    24.              Mucosal Malignant Melanoma

    25.              Neonatal Adrenoleukodystrophy

    26.              Neuronal Ceroid Lipofuscinoses, Infantile Type

    27.              Niemann-Pick Type C

    28.              Patau Syndrome

    29.              Primary Progressive Aphasia

    30.              Progressive Multifocal Leukoencephalopathy

    31.              Sanfilippo Syndrome

    32.              Subacute Sclerosis Panencephalitis

    33.              Tay Sachs Disease

    34.              Thanatophoric Dysplasia, Type 1

    35.              Ullrich Congenital Muscular Dystrophy

    36.              Walker Warburg Syndrome

    37.              Wolman Disease

    38.              Zellweger Syndrome

    The full article can be found here: http://www.seniorjournal.com/NEWS/SocialSecurity/2010/20100212-SocialSecurityAdds.htm

    Tags: , , , , , , , ,

  • 05Dec

    #14 nac 760x508

    Three days was enough time for us to be in Bethesda, MD at the NIH! We were thankful that we didn’t have to spend all day Thursday & Friday running around with our head cut off!  Last night we had an opportunity to eat dinner with friends from KC that moved to DC for work! It was a fun time!

    Since we had a baseline from earlier this year with the Natural History Study we didn’t have to do a lot of tests so to speak. Brisan and Parker did the usual blood pressure, height, weight check. They took an Olympic size pool of blood from each of them along with a urine sample to see if they are using performance enhancing drugs. No not really! Also we don’t have the boys on any type of non prescribed remedies which helped us in getting this started relatively quickly.

    So here is an example that I pulled from the NNPDF’s site that shows how this crossover study will work. They are trying this with 30 patients and hope to be done by August 2010. NACtrialtimelinediagramThe skinny on this is we don’t know which one will have the NAC and who won’t. We will give this to them three times daily. The pill looks and acts like a alka seltzer tablet when we drop it in water!  The idea on the study is to see not only can they validate some promising biochemical markers but reduce the oxidative stress on the cells. Oxygen cells accumulate to cholesterol and since Niemann-Pick Type C Disease cholesterol plays a big part in it these oxygen cells are putting more stress  on the cells. Of  course they haven’t figured out a way to solve the main problem but if they can treat some of the trickle down effects then this could be a possible portion of the cocktail of remedies to attack this monster. This is how I understood it.

    Here is a video of Brisan and Parker from our trip.

    Tags: , , ,

  • 02Dec

    Tomorrow morning we set out on a journey across the country to start a new drug trial they call the Biomarker Validation for Niemann-Pick Disease, type C: Safety and Efficacy of N-Acetyl Cysteine at the National Institute of Health in Bethesda, MD. This clinical trial will hopefully lay the groundwork for future therapeutic trials. You can  read more about it here (I’ll spare you from me trying to explain it): http://www.nnpdf.org/NPCClinicalTrialOpportunity.html.

    DDVAP infustions for Brisan and Parker

    Brisan and Parker also started on November 23rd weekly infusions of DDVAP which has been used for completely different reasons but they have found that it helps elevate your Von Willibrand Factor which contributes to helping your blood clot. As some of you may know they both have an issue with clotting with a underlying bleeding disorder that they have not been able to pinpoint exactly. The weekly infusions will hopefully allow them to clot faster therefore keeping the sanity in the house!

    As parents it is frustrating not only because your child doesn’t understand why you have to hold their nose “forever” but it always happens at the wrong times! Stay tuned about more info on the NAC trial and updates!
    Dad

    Tags: , , , , , , , , ,

« Previous Entries   

Recent Comments

  • Gary, Thank you for posting a comment! With Niemann-Pick Typ...
  • My mother has picks - age about 65, showed first signs aroun...
  • Hey Chris. Yes he is chewing on everything. If is not his sh...
  • I noticed that Brisan is chewing in the video on a rubber wr...
  • hey guys. can't wait to see you tomorrow . happy bday dunc...