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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)
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  • Rare Disease Day 2012 – Spread This Call To Action To Make A Difference!
    World Rare Disease Day 2012 is coming up on February 29th.  Consider these staggering statistics. Each year, 139 BILLION U.S. dollars are invested in medical research — much of it from tax payers Each year, 800,000 papers are published in medical journals by scientists Each year on average, ONLY 21 new drugs are approved by […]
  • Meet The Children Who Are Resistant To Contracting Ebola, HIV-AIDS
    My life grows more surreal by the day. Four years ago, I was told that my eight year old identical twins have a fatal genetic cholesterol disease called Niemann Pick Type C (the “Childhood Alzheimer’s”) and they would likely not live to see their 10th birthday. Now I have learned from top virus scientists that […]

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  • 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

    What is Niemann-Pick Type C? http://www.blog.bripardun.com/jump.php?m=Niemann-Pick

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  • 14Feb

    Me and Jennifer had a chance to get some away time from the lil dudes this weekend. I entered into a contest with Reltionships360 at the beginning of the week. I wasn’t quite for sure if it would pan out but I am very glad it did!


    On Thursday I received the news that we had won! At first when I called Jennifer to tell her, she wasn’t too excited. Really the thought was who was going to watch the kids? Well we got that worked out!


    We received an overnight stay by the Marriot, 4 hour limousine ride by Extreme Limousine, dinner at McCormick & Schmicks on the Plaza, flowers & chocolates from Kamps Flowers, and most importantly time alone!


    All together we say thank you for everyone that made this happen and we are very thankful!

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  • 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

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  • 24Jan

    Well the first almost eight weeks of the boys taking NAC are almost over. We head out to the NIH on Jan. 28-30th to review thus far. They get to have a six week washout period starting next week and we are very excited. After giving Brisan 40 ml three times a day and Parker 36ml times a day for that time were not at all sad to have a break from the tedious work.

    We get a lot of questions on how the boys are doing. I am glad that we do! It is always hard to answer because how do you relate what seems “normal” to us but really isn’t typical in other people’s eyes. How do you establish the difference in words? Brisan has been dealing with a cold/ now his sinus in his right eye. His sinus cavity is so full of polyps that we would have to do surgery every other week to remove them. Some days he just looks like a mac truck hit him! Wednesday Jenn had to take him to the ER because of seizures.

    Parker just needs to be put into bubble wrap with an oxygen mask because he seems to be falling down a lot more.  It is almost like his head is to heavy so when he attempts to run (which seems to be every time) he is having his body weight all shifted forward which makes him unstable. It is kinda of funny to watch him pretend to be a pirate or a fiery ball of energy. Like this week he fell down going into school and scraped his nose and guess what?  He had a nose bleed!

    They both have been having their weekly infusions of DDVAP. So far so good but those poor lil dudes are getting poked way too much. I don’t get to see nor deal with it because I am now working out of an office close to the house. I know they don’t like it and I know Jennifer and I feel helpless. It is certainly out of our hands.

    So 2010 brings an interesting start. Unlike last year where we could pay our insurance deductible all up front because of the expensive Zavesca medication. Now we have to earn it the old fashion way this year. What I mean is we can’t just write one check and were good for the rest of the year (The cost was so much the deductible was met instantly and allowing us to owe that to one company not several). The unknown is how much additionally will we rack up in trying to meet that deductible in visits/ costs . A little nerve racking because dealing with either Humana or Medicaid is like dealing with mob, you seldom get your way with them. I would think we will have “degree’s” in insurance by the time we all done dealing with them.

    At church last night we talked about if you knew how long you had left to live what “margin” would you leave in your life for the most important things? Certainly made you stop and think. How many times do we put things off because we can “make up the time later”. Something I found funny was when you arrive at the end of your life you can’t say “wait a minute I saved 6 months of life, I’m not ready to go!”. So if we can give the first 10-15 minutes of our day to God and say your welcome today in my life then it should help you more.  That was comforting to know that something that simple could help the other aspects of our live even more.

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