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.
Heywood is behind HealthDataRights.org, a movement to declare our individual right to have and share our health data. Heywood has started the Declaration of Health Data Rights petition and supporters can publicly endorse it by going to HealthDataRights .org. Essentially by having access to all the health data about ourselves in a timely (key word!!) manner we can make better health decisions and save lives.
I am one person who would happily share all of our medical records like Heywood proposes. I have been looking into a way to try and opt-out of the Hippa law Privacy Rule requirements. I am not interested in keeping our medical records private. In fact, I want people all over the world to access our medical records in the hopes that someone can help save the lives of our twin daughters who suffer from a fatal cholesterol disease. In some cases my doctor’s can’t talk to each other unless I give written permission.
I am asking everyone I know to endorse the Health Data Rights petition today. Our family has literally spend hours collecting Addi and Cassi’s medical records from hospitals including Lucille Packard Children’s Hospital at Stanford, Mayo Clinic, Children’s Hospital Michigan, Children’s Hospital Oakland, National Institutes of Health and Renown Children’s Hospital.
You can see the picture of the 3 inch binders I have created that contain the most important medical information on Addi and Cassi (we have two each so far). The orginal stack of paper was two feet tall! To get all of our data to doctors at various hospitals throughout the country, I have sent hard copies of the binders to them. If they requested the records themselves, they would have to sift through the two foot stack. Do the top doctors in the world have time to do this?
Currently, we are six months behind in gathering all of the new records – it’s a constant battle as we try and keep up and request the records for two sick kids. There is no reason why medical records could not be in electronic form and available to anyone at a click of a button to share and easily SEARCH.
At one point, we were going to scan all of Addi and Cassi’s medical records and put them online allowing any doctor or researcher in the world to access them. We figured out quickly that it’s simply too time consuming to tackle and manage. When you’re trying to save your kids lives you don’t have time to send Hippa release forms to hospitals and weed through fax cover sheets and garbage that hospitals often send by mail. If someone is chronically sick and dying, trying to collect all personal medical records is virtually impossible.
As a society, we are living in fear of the health and life insurance companies and the issues surrounding pre-existing conditions. We need additional legislation with health and life insurance companies to make sharing electronic medical records a reality. We would probably save billions of dollars in productivity time as well.
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.”