Today I called the Social Security Office in Nevada to find out about the compassionate allowance program for our twins. Last month, the Social Security Administration added 38 more conditions to the already 50 rare diseases and cancers designated for compassionate allowance, which provides expedited review of disability applications from people with severely disabling conditions. Niemann Pick Type C disease was added to the list and after reading the press release I assumed our children would qualify.
After navigating through the Social Security automated voice activated phone system for 30 minutes and losing the connection, I finally managed to get through to a live person. In the State of Nevada, you can select a Social Security appointment by telephone or in person. I chose the telephone appointments. Apparently, we can’t set up back to back appointments so I made them for March 18th and 19th at 10:32am. All appointments in our State are done at 2 minutes after the hour. Only the government could come up with such a thing.
I was told that each appointment would be 1 ½ hours long to fill out the information. I tried to explain that our applications will be identical except for one minor change – one application will say Addison and the other Cassidy. Still two appointments (unless I decide cancel — I’ll get into this below).
Social Security had some quick questions for me – how much is our annual income (I could not recall the number on the phone) and do Addi and Cassi have siblings (No). They also wanted to know if I am “working.” I am not officially working a job outside the home but I do spend all my time “working” to find treatments for our girls and we spend a significant portion of our money/income on funding research and experimental treatments. The call was all very vague but I made the appointments to get real facts on the program in order to share with others in my situation.
A friend of mine who has a child with a different lethal rare disease told me this morning that with her husband’s unemployment and her part-time job, they make the ‘big bucks’ and don’t qualify for the program. I was shocked. I guess you have to be completely impoverished to get any assistance — little to no income from what I understand. I now want to find out the truth as to who gets what so that people are not wasting their time pursuing something they obviously don’t qualify for. If a family with three kids (one who is dying) and who are on unemployment and working part time jobs don’t qualify, who does?
When a major announcement is made in the media touting how the government is helping kids who are dying, they might want to put in a caveat that says, “you can only qualify if your parents make X amount per year.” I am looking at spending 3 hours of my valuable time to find out we make too much money. I am certain we are making too much money but the way they promoted the program made it appear that all qualify. How many people is this program truly helping? And why would they want to accept and process two applications from me? What a total waste of government time and resources!
For many people applying for benefits, the Social Security Disability process is a slow one. Being awarded benefits can take many months, often years. I was told our case would be reviewed within 20 days of filing the applications. A typical time frame for review is 120 days. I was told the “child rate” in the State of Nevada is $674 (this is the maximum amount per child). Who could live off of $674 a month and why not 675?
The National Organization for Rare Disorders (NORD) helped get the list expanded. I am going to contact NORD to see if they know what the income limitations are for this program and why the income number was not put into the press release.
If you have a rare and terminal disease and want to find out about the compassionate allowance program, click here to go to the SSA website. They won’t tell you if you qualify. I suspect most people don’t. I found a helpful State-by-State list of Social Security Offices on a Huntington’s disease website if you wish to pursue it.
In addition to Niemann Pick Type C disease, some of the newly added conditions for compassionate allowance include Ataxia Telangiectasia, Hurler Syndrome Type IH, Idiopathic Pulmonary Fibrosis, Neonatal Adrenoleukodystrophy, Sanfilippo Syndrome and Wolman disease.
Here is a quick list of the new Compassionate Allowance conditions:
- Alstrom Syndrome
- Amegakaryocytic Thrombocytopenia
- Ataxia Spinocerebellar
- Ataxia Telangiectasia
- Batten Disease
- Bilateral Retinoblastoma
- Cri du Chat Syndrome
- Degos Disease
- Early-Onset Alzheimer’s Disease
- Edwards Syndrome
- Fibrodysplasia Ossificans Progressiva
- Fukuyama Congenital Muscular Dystrophy
- Glutaric Acidemia Type II
- Hemophagocytic Lymphohistiocytosis (HLH), Familial Type
- Hurler Syndrome, Type IH
- Hunter Syndrome, Type II
- Idiopathic Pulmonary Fibrosis
- Junctional Epidermolysis Bullosa, Lethal Type
- Late Infantile Neuronal Ceroid Lipofuscinoses
- Leigh’s Disease
- Maple Syrup Urine Disease
- Merosin Deficient Congenital Muscular Dystrophy
- Mixed Dementia
- Mucosal Malignant Melanoma
- Neonatal Adrenoleukodystrophy
- Neuronal Ceroid Lipofuscinoses, Infantile Type
- Niemann-Pick Type C
- Patau Syndrome
- Primary Progressive Aphasia
- Progressive Multifocal Leukoencephalopathy
- Sanfilippo Syndrome
- Subacute Sclerosis Panencephalitis
- Tay Sachs Disease
- Thanatophoric Dysplasia, Type 1
- Ullrich Congenital Muscular Dystrophy
- Walker Warburg Syndrome
- Wolman Disease
- Zellweger Syndrome
Ideas for Change in America is a competition that empowers citizens to identify and build momentum around a diverse range of ideas for addressing the challenges our country faces.
From January – February 2010, more than 2,500 ideas were submitted and voted on by 100,000 people across the country. The top three rated ideas from each issue category qualified for the final round.
Right now, 25 Million+, It is time to care about rare disease is rated as the #1 overall topic! Let’s help it stay at the top. Vote here!
The 10 most popular ideas will be presented to relevant members of the Obama Administration, and Change.org will subsequently mobilize its full community to support a series of grassroots campaigns to help turn each idea into reality.
Please take a few minutes and cast your vote on behalf of the 30 million Americans affected by rare disease — that’s 1 in 10 people in the US living with a chronic or life threatening rare disease! It’s time to care about rare!
FDA and EMA Forge Rare Disease Collaboration; Announcement Coincides with World Rare Disease Day 2010
In recognition of World Rare Disease Day 2010, the U.S. Food and Drug Administration (FDA) and the European Medicines Agency (EMA) announced that they will collaborate together and now accept a single annual report from sponsors with an orphan drug designation for rare medical conditions.
The joint announcement was made by Dr. Timothy Cote, director of FDA’s Office of Orphan Products Development and Dr. Jordi Llinares, head of Orphan Medicines at the EMA and marks an important step forward towards increasing data sharing between the two agencies.
An ‘annual report’ for an orphan drug is information that is typically provided about the development of orphan medical products, including a review and status of ongoing clinical studies, a description of the investigation plan and anticipated or current problems in the process that may impact an orphan product designation.
The submission is voluntary and applies only to sponsors who have obtained an orphan designation status for their product from both the FDA and EMA. Each regulatory body will conduct their own review and assessment of the annual report to assure the information meets all the legal and scientific requirements of each agency.
By allowing a single annual report submission to both regulatory agencies, the paperwork process is streamlined and precious time is saved as organizations can focus their energies on moving drug development forward instead of duplicating paperwork efforts. The FDA and EMA plan to exchange the annual reports electronically through a secure portal starting Feb. 28, 2010.
Hopefully, we will see more of this type of collaboration in the future by both agencies. I am looking into filing my Orphan Drug Application for Cyclodextrin with the EMA and I am happy to see the two agencies working more closely together.
CNN Covers How California Health Care Budget Cuts Threaten Life of Little Girl Suffering From Deadly Cholesterol Disease
Here is a story on sweet little Jessica Leoni who suffers from the same disease as Addi and Cassi. Her health care is being threatened by California’s Health Care crisis. Here is the story from CNN.
LOS ANGELES, California (CNN) — Anthony and Lisa Leoni have little time to worry about whether California’s budget crisis will affect their daughter’s life-sustaining care.
A steady stream of nurses, caregivers and therapists visit 12-year-old Jessica at home around the clock. Jessica suffers from a rare and fatal disease called Niemann Pick Type C. A cholesterol imbalance destroys healthy cells in the liver, spleen and brain.
Although Jessica led a relatively normal life before the illness worsened, her mother always knew the disease would eventually take over.
“Jessica was playful, happy and loves people. My heart was always a flutter because you never knew how many moments you’d get,” Lisa Leoni says.
In Jessica’s case, a grand mal seizure suffered Memorial Day weekend 2005 brought a world of hurt to the Leonis.
At the height of her symptoms, Jessica suffered up to 60 seizures a day. The disease, also known as NPC, has stolen her ability to walk, talk, eat or even breathe on her own. An oxygen machine pumps air into her lungs around the clock.
Anthony Leoni knew they needed help.
“If you told us 10 years ago this is how your life is going to be, I would have said we’re not capable. We don’t have the training, ability, we don’t have the energy, we don’t have the stamina.”
They found Bill Feeman of Westside Regional Center.
“When you walk into this home and you see Jessica, [you] just fall in love with her,” Feeman says. “She is a sweet soul — you see her, she’s physically helpless, yet there’s a light that shines out of her eyes, it takes you in.
“When you meet this family and you see how hard-working and involved they are, you just wanna do everything you can to help.”
Feeman worked to find in-home support in the form of nurse caregivers, therapists and medical supplies.
“This family also has all the normal responsibilities of raising a family. They have to pay their mortgage, they have to feed their family, they have to go to work. So when you have someone as medically involved as Jessica is, and you’re talking about all that worriment and responsibility of your child being ill and on top of that you still have to … bring home a paycheck every week in order to pay your bills, you need a lot of help.
“You have to be awake at night with Jessica. She cannot be left alone for even five minutes where someone is not awake and attentive to her needs. So you’re looking at a family, who when I first met them a year ago had some help in the home but nowhere near enough and they were exhausted. They were trying to be caregivers, nurses, doctors, and then get up and go to work during the day and still support their family.”
“We pieced all these programs together. We finally got everything in place where they can be parents again, which is a wonderful thing. And that’s what scares me about these budget cuts … it scares me a little bit that things might start moving backwards.”
One of those caregivers is Carmen Bailey, a certified nurse assistant and home health aide with Caring Connection. She has been working with Jessica for more than two years.
“It’s been an experience. I call her my angel. I bathe her, groom her, position her, massage her to make her comfortable.”
Carmen may be affected by the budget cuts.
“I also have to live to keep on going. I know I will still be here and whatever I need to do extra I’m willing to do it for the family and Jessica.”
Westside Regional Center is one of 21 state regional centers providing services literally from birth to death.
They work with people diagnosed as developmentally disabled, including those with cerebral palsy, epilepsy, autism and mental retardation.
Mike Danneker is executive director of Westside Regional Center.
“Our budget is in the 4 billion dollar range for about 240,000 clients in California,” Danneker says. “Westside gets about 140 million dollars a year and we have about 7200 clients.”
He believes the California budget fix will cut a half-billion dollars statewide from their budget.
“It’s going to affect everybody. Camps, therapies like art, horseback riding, some of the things people have done for decades will be gone. We’ll have to cut back the number of hours to about 300 hours a year. We estimate 40 percent of California clients have over 300 hours a year.”
Anthony Leoni has this to say about impending cuts to Jessica’s life-sustaining care.
“It’s absolutely frightening to think about what happens if the services go away. They’re absolutely essential to keep Jessica going.”
Jessica’s childhood friend Kristina Carmickle stands by her bedside.
“We did a lot of tap (dance) together, that was Jessie’s favorite. Once you have a friendship that’s big enough, you’re always wishing for the best.”
Anthony Leoni sums it up this way: “We know that there are other families that have challenges similar to us, sometimes even more dramatic than ours, and if we can serve a purpose or a role to help bring the awareness to public what it takes to take care of a family like ours, then we’re willing to make that effort.”
The Key To The Closet Is The Key to the Kingdom: A Common Lesson of Rare Diseases
How can understand more about the most common diseases that affect mankind. By looking at the rarest diseases. This story takes us back……
Nearly twenty centuries ago, the Roman poet Juvenal wrote in The Satires about “a rare bird comparable to a black swan.” The notion of rarity enticed the mind in antiquity, and continues to do so in modernity – in medicine and in our daily lives. What are the lessons of rarity and specifically of rare diseases? Let us look closer and observe.
The place was London. The date – April 24, 1657. A letter arrived at the home of Dr. William Harvey, a man whose life was distinguished by one of the greatest discoveries in the history of medicine, the discovery of the circulatory system. But, the letter to Dr. Harvey from a Dutch physician, John Vlackveld of Harlem, had nothing to do with common problems of the heart or blood or circulation. The letter invited Dr. Harvey’s attention to the case of a gentleman with an extremely rare affliction of the urinary bladder. Dr. Harvey was old and in failing health, and could not assume the challenge, but he clearly recognized the value of such a noble pursuit. He reached for a piece of parchment, dipped his pen in the inkwell, and wrote these words: “Learned Sir, your much esteemed letter reached me safely in which you not only exhibit your kind consideration of me, but display a singular zeal in the cultivation of our art. The case of the plasterer to which you refer is indeed a curious one, and might supply a text for a lengthened commentary. But, it is in vain that you apply the spur to urge me at my present age to gird myself for any new investigation.”
While unavailable, Dr. Harvey, however, was not disinterested. He continued the letter in what might arguably be one of the most prophetic passages ever written in the history of medicine:
“It is even so,” he wrote, “Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path; nor is there any better way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of nature by the careful investigation of cases of rarer forms of disease. For it has been found in almost all things, that what they contain of useful or of applicable nature, is hardly perceived unless we are deprived of them, or they become deranged in some way.”
Centuries later, in an address delivered to The Medical Society of London on May 21, 1928, Sir Archibald Garrod, the father of metabolic disease, cited that monumental letter from William Harvey. In an engaging essay entitled, “The Lessons of Rare Maladies,” published in The Lancet the following week, Dr. Garrod paraphrased, “The study of nature’s experiments is of special value; and many lessons which rare maladies can teach could hardly be learned in other ways.”
Francis S. Collins, M.D., Ph.D., (Former) Director of The National Human Genome Research Institute said more recently, “While many of the genes we will initially be pursuing are responsible for rare disorders, what we learn from rare disorders often has profound consequences for our understanding of more common conditions.” But, why is that so? Why are rare conditions so instructive of more common ones?
To begin, rare diseases provide robust insight into complexity in biological systems. The specificity of the rare disease often permits a causative genetic factor to be isolated in a complex regulatory network, thus identifying and defining the network itself. Such insight is often the catalyst for dissecting the structural organization and/or inter-dependent signaling networks that are influenced by common genetic variations and that lead to some of the most common diseases of mankind. Nature does not use different genes, molecules, and pathways for common conditions than it does for rare ones. Rather, it is often the rare disease that actually reveals which gene, molecule or pathways nature hijacks in its common infirmities. The key to the rare disease is often the key to the common one. The key to the closet is often the key to the kingdom.
As examples, studies of familial hypercholesterolemia, Lesch-Nyhan disease, fibrodysplasia ossificans progressiva, congenital malignant osteopetrosis, and Hutchinson-Gilford progeria, all exceedingly rare conditions, have revealed the causative genes not only for each of these rare disorders, but have also illuminated the molecular pathways for common disorders of cholesterol metabolism, uric acid metabolism, heterotopic ossification, osteoporosis, and aging respectively – diseases that in some cases affect tens of thousands of people worldwide, and in other cases, millions.
The examples, iterations and lessons of rare maladies are profound and endless. In a dazzling article on “a new grammar for drug discovery,” (Nature 437: 491-493, 2005), Mark Fishman and Jeffrey Porter discuss the value of rare diseases not only for illuminating common conditions, but also for drug discovery. “Historically pharmaceutical companies have not focused on these diseases, in some cases because the affected protein is not tractable to pharmaceutical approaches, and in others, perhaps, because the number of people affected is small. But, the powerful role of a single gene in Mendelian disease can provide insight into complex diseases where the same gene accounts for part of the phenotype. Statin therapy, for example, was initially directed to patients with a genetic predisposition to excessive levels of blood cholesterol. But after the drugs efficacy and safety had been tested, the treatment was extended to a wider population of patients who had the same condition but due to many causes.” Once again, the key to the closet is the key to the kingdom.
In the last paragraph of his essay (The Lancet; May 26, 1928), Sir Archibald Garrod states, “We may feel sure that, in the future as in the past, there will be many who will try to solve the problems of the commoner diseases, the control of which is of vital interest to the community at large. Let us hope there will always be some who will seek to guess the riddles and to learn the lessons of rare maladies.” The implication, of course, is that in doing so, one may provide the clues to solve the more common conditions as well. How ironic and fortuitous that nature would construct such a universal key and place it not in the hands of the king, but in the hands of the custodian. The key to the closet is the key to the kingdom.
And, so we will end where we began with the letter from Dr. Harvey to Dr. Vlackveld, long before the era of gene identification or molecular discovery or recombinant technology. It was almost 350 years ago in London, when Dr. Harvey wrote those words that have not been improved upon since. “It is even so. Nature is nowhere accustomed more openly to display her secret mysteries than in cases where she shows traces of her workings apart from the beaten path; nor is there any better way to advance the proper practice of medicine than to give our minds to the discovery of the usual law of nature by the careful investigation of cases of rarer forms of disease.” The key to the closet is the key to the kingdom. It is even so.
Written by Frederick S. Kaplan, M.D.