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

Social Security adds 38 new medical conditions that qualify for disability help.  The new conditions range from early-onset Alzheimer’s disease to rare diseases that primarily affect children which includes Niemann-Pick Type C!

Personally this seems like a relief for so many families. One of the goals of the Niemann-Pick Children’s Fund is how can we directly impact families especially with this kind of disease. That of course is a huge task that seems daunting at times. There are so many other rare diseases out there that are equally devastating besides NPC. It is heart wrenching to know that there are so few options.

Approximately 15 million Americans have rare diseases for which there still is no approved treatment and no research in progress. What that tells us is that leaves a lot of families carrying a burden of hopelessness!

Here is a snippet from the article: read more here

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.

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

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

UPDATE 2-US FDA panel backs new use for Actelion drug [Zavesca]

Actelion LTD

We’re a few weeks behind in updating this information but some big steps have happened recently regarding the potential FDA approval for Zavesca. The US Advisory panel on Jan. 12th recommended approval!

This snippet is from the article on Reuters regarding the breaking news:

Doctors can prescribe Zavesca now for NP-C, but Actelion needs FDA clearance to market the drug specifically for that use. Patient advocates also said insurers are reluctant to pay for the drug for NP-C patients without the approval. The drug costs $159,000 a year per patient.

As a family we personally understood what that means because we were blessed to be able to use this drug for a period of time. For other families to be able to experience this will be huge!

Please read the full article here by Lisa Richwine.

UPDATE 2-US FDA panel backs new use for Actelion drug

Historic FDA related drug advisory committee will meet January 12th, 2010 – Zavesca

This is an email from Nadine Hill of the NNPDF. This is good news. If the FDA does say lets move forward that means more families might be able to participate because the drug would be FDA approved. All though this isn’t a cure it is one of hopefully several more therapies to come to fight this horrible disease.

Hello NNPDF Families and Friends,

NOTE: Deadline of Monday, December 28th, 2009

We have received word of an important and historic FDA related drug advisory
committee meeting which is to be held in Maryland on January 12th, 2010 ,
which will review Zavesca as a possible treatment and therapy for
Niemann-Pick Disease Type C. An advisory committee panel of medical and
clinical experts will gather together to review information and learn the
data particulars as it relates to the use of Zavesca in NPC patients.

A segment of this meeting protocol allows for the participation of the
public to submit written impact statements on the use of Zavesca ~ we would
like to encourage our NPD Type C family membership to take part in this
portion of the meeting. With that in mind we have developed an
informational sheet and suggested letter guideline to assist those who wish
to submit a written testimonial.

Please refer to the foundation NewsLine for more details pertaining to this
event at: http://www.nnpdf. org/aboutus_ 14.html

Today, there is no cure or effective treatment

Thank you for stopping by! Niemann-Pick Type C Disease is a every day reality for our two eldest sons’ Brisan and Parker including our whole family. Their prognosis captures the meaning of Niemann-Pick Disease Type C (NPC). It’s a genetic neurological disease that strikes children through accumulation of cholesterol and other excess fats in the cells of the liver, spleen, and brain. When brain cell function is blocked, the child loses coordination, stumbles, falls, and eventually will need a wheelchair, hospital bed, and other adaptive equipment. As the disease worsens, other devastating symptoms develop, including loss of the ability to speak and swallow, and seizures may occur. The health of children with NPC declines until ultimately, the disease claims his or her life. This disease affects roughly a 75 people in the US and around 500 worldwide (ever). The NPCF was formed to help create a entity that we could bring to communities that surround us the awareness needed to shed light on a disease that researchers are taking interest in. We felt after facing this reality that research has a different time line than parents yet they are making progress then why could we not help out in some shape, way or form?

Today, there is no cure or effective treatment for Niemann-Pick, but research is making progress. Tomorrow through research made possible by the financial support of generous contributors, these precious children can be saved and hopefully our Brisan and Parker! But they need your help now. This disease once solved or partially will provide a gateway into other storage disorders and it’s relation to Alzheimer’s, atherosclerosis, HIV/Aids, and stroke.

The other ugly truth that we face as their parents is the disease is always fatal at the time I write this. Can you imagine the brutal honesty of the this whole situation?  Pretty surreal at times… can someone pinch us? We were told at the appointment of the official diagnoses on 8/8/08 that we should take them home and love them the best way we can in the mean time.

We encourage you to cherish ever moment with your family and don’t take for granted the intuitions you may have. The NPCF will need your support to make a  bigger impact! If you have any ideas or collaborations please reach out to us.

Sincerely,

Michael & Jennifer Stults

New therapies – Niemann-Pick type C disease

New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat

Authors: James E Wraith, Jackie Imrie
Published Date November 2009

James E Wraith, Jackie Imrie

Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Manchester, UK

Abstract: Niemann-Pick disease type C (NP-C) is an autosomal recessive disorder characterized by progressive neurological deterioration leading to premature death. The disease is caused by mutations in one of two genes, NPC1 or NPC2, leading to impaired intracellular lipid transport and build-up of lipids in various tissues, particularly the brain.

Read the full abstract here.

*This post does not reflect the views and opinions of Niemann-Pick Children’s Fund, Inc. This article is for informational purposes only. The sole credit of this article belongs to the author/website listed above.

Gene Therapy Halts Brain Disease in Two Boys

By Jocelyn Kaiser
ScienceNOW Daily News
5 November 2009

Researchers have used a modified AIDS virus to halt a devastating brain disease in two young boys. The treatment, in which the virus delivered a therapeutic gene, marks the first time gene therapy has been successfully used against X-linked adrenoleukodystrophy (ALD)–a disorder that is always fatal if untreated. With this proof of principle, scientists hope versions of the AIDS virus engineered to carry different genes can now be applied to a variety of other diseases.

ALD is caused by a defect in an X chromosome gene that produces a protein called ALD. Cells need this transporter protein to break down certain fats; without it, the fats build up and damage the myelin sheathing that protects nerves. In X-linked ALD, which strikes mainly boys, patients develop neurological symptoms such as seizures and loss of vision around age 6 to 8, and within months they become paralyzed, deaf, and eventually die. In the 1980s, the parents of a boy with ALD developed a mixture of fatty acids they called Lorenzo’s oil that may have delayed the disease in their son (and inspired a 1992 movie). But the only widely accepted way to stave off ALD is a bone marrow transplant, which is risky–20% to 30% of patients die or have serious complications–and works best if the donor marrow comes from a sibling.

In search of an alternative, pediatrician Patrick Aubourg of INSERM in Paris, the French biomedical research agency, and the University Paris-Descartes, along with collaborators in France and Germany, tried gene therapy on two 7-year-olds with ALD who couldn’t be matched with a bone marrow donor. They removed blood cells from each boy and treated the cells with a so-called lentiviral vector, a modified HIV virus carrying the gene for the enzyme they lacked. The virus could not replicate, but it stitched the gene into the DNA of the blood cells.

To provide the treated cells room to take hold and multiply, the researchers wiped out each patients’ bone marrow with chemotherapy. Then they infused the repaired cells back into the patient, and the cells began cranking out ALD protein. The idea was that, after a few months, some of these cells would migrate into the brain.

As expected, parts of the patients’ brains that already showed signs of myelin damage initially got worse after the gene therapy, because the modified cells did not migrate into the brain right away. But after 14 to 16 months, the boys’ blood cells were still making ALD, and brain images showed that their disease had stabilized or improved, suggesting the protein was being produced there. One boy did worse on a non-verbal IQ test, and the other lost some vision, but their verbal test scores did not drop the way they do in patients who don’t get any therapy. The results were comparable to a bone marrow transplant, the researchers report tomorrow in Science.

“It’s a real milestone in the field,” says neurologist Florian Eichler of Massachusetts General Hospital in Boston. He cautions, however, that the therapy should not be attempted until a patient shows signs of ALD. That’s because many boys with the defective gene do not develop the brain disease, and thus they should not be subjected to such a severe treatment regimen.

The study is also important because it suggests that a lentiviral vector may be safer than some other viruses used for gene therapy, says gene therapy researcher David Williams of Harvard Medical School and Children’s Hospital Boston. In the best-known example, another viral vector cured about 20 patients with “bubble boy” immune disease, but it caused leukemia in several of them by inserting its DNA near a cancer gene. An analysis of the ALD patients’ blood cells suggested the lentiviral vector is less likely to land in the wrong spot. Williams expects that lentiviral vectors will now be used to treat other genetic diseases that involve blood cells, such as sickle cell disease.

Go To Science NOW

Email response to this article from:

Cate Walsh Vockley, MS, CGC
Coordinator of Education, Referral and Advocacy
National Niemann-Pick Disease Foundation
Senior Genetic Counselor
Medical Genetics
Children’s Hospital of Pittsburgh

In addition, Karen Quandt, Vice-Chair of the NNDPF Board, asked Dr. Vanier about the studies and whether this technique can be applied to NPC. Dr. Vanier’s response was as follows:

“Unfortunately the procedure described for adrenoleukodystroph y (ALD) is NOT applicable to NPC1 patients, because this strategy has a chance to work only in diseases where bone marrow or cord blood transplantation has proven efficient. In ALD, bone marrow transplantation (BMT) has been shown quite efficient, provided it is done early enough. The big advance in the trial has been to use the patient’s own cells, after correction by gene therapy. In NPC1 we know that bone marrow transplantation (BMT) has no effect on the neurological disease.

(Note that BMT has some chances to work in NPC2, although it is still too early to conclude in the one patient who survived the transplantation procedure).”

*This post does not reflect the views and opinions of Niemann-Pick Children’s Fund, Inc. This article is for informational purposes only. The sole credit of this article belongs to the author/website listed above.

Dementia. It changes your life.

Welcome to Niemann-Pick Children’s Fund! Please stay patient while we complete our site.  “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)