In 2009, Grace Jeffers of Chicago was wheelchair-bound, having severe back pain and losing control of the left side of her body. She had been diagnosed with multiple sclerosis, but when a blood test sent to Mayo Clinic in December showed that Jeffers actually suffered from neuromyelitis optica (NMO), her physician referred her to Mayo Clinic.

Prior to her appointment, as she watched the Super Bowl with her children and grandchildren, Jeffers realized she was beginning to lose her eyesight. Unable to read the score on the television screen, Jeffers had to ask her grandchildren to keep her updated. Her vision continued to deteriorate until she was essentially blind.

At Mayo Clinic, neurologist Brian Weinshenker, M.D. first prescribed her steroids, but when that didn’t have any effect, they turned to a plasma exchange. A plasma exchange is a procedure that involves removing some blood and mechanically separating the blood cells from the fluid (plasma), mixing it with replacement solution and returning it to the body. After her fourth plasma exchange treatment, Jeffers vision had returned, and she recalls it being “such a joy” to see the doctor who was helping her.

Today, Jeffers is out of the wheelchair. With her eyesight back, she is able to continue her passion for drawing and painting, as well as spending time with her children and grandchildren in her Chicago home.

“There is no other place like this,” says Jeffers. “When I come to Mayo, it’s like a different world. It was just amazing, the care … was just unparalleled.”

Read the story and watch the video at: Click Here

Achieving a Better Life Experience Act of 2009 (ABLE Act)

S. 493/H.R. 1205

Background

Many families have been searching for a way to plan for the future of a child with severe disabilities. While they are able to save for the educational needs of their other children through “529” college tuition plans, they find that those plans do not fit the needs of their child with severe disabilities. Since their children may now, or in adulthood, need the long term services and supports of the Medicaid program and the income assistance of the Supplemental Security Income (SSI) program, many have considered using the existing options for supplemental needs planning in the Medicaid program.

However, often families have found it to be too expensive to hire an attorney to establish a trust which meets the requirements of the Medicaid and SSI programs. These families recognize that their loved ones may live for many decades beyond the ability of the parents or other family members to assist them through supplementing services they receive through Medicaid. Others want to ensure the financial security of family members who have the level of disability required for Medicaid eligibility, but for now, are managing to function without the use of those benefits. Still others want to ensure that their family member can exercise control over the funds in the account without endangering the Medicaid and SSI benefits on which they may rely.

Achieving a Better Life Experience Act of 2009 (ABLE Act)

The ABLE Act would give individuals with disabilities and/or their families access to savings accounts that would allow individual choice and control while protecting eligibility for Medicaid, SSI, and other important federal benefits for people with disabilities. They could create a disability savings account that would accrue interest tax-free. Withdrawals would not be taxed as long as they are used to pay for qualified expenses. The account could fund a variety of essential expenses for the person with a

disability, including educational expenses; medical and dental care; health, prevention, and wellness expenditures; employment training and support; assistive technology; personal supports services; transportation; housing; and other expenses for life necessities. Savings accounts opened under the ABLE Act would differ from other savings instruments with tax advantages because they provide substantial flexibility:

• The individual with disabilities could hold/control the account, or parents or a guardian could hold it in trust.

• The allowed expenses are designed to be broad enough to accommodate the individual needs of account-holders.

• Most of the allowed expenditures are not limited to adulthood or retirement age, so they can be used whenever they are needed.

• The flexibility in expenses also allows families to save with confidence even though they cannot always predict how independent their child will become.

• A family that has saved money in a traditional account for a child who becomes disabled later in life can roll-over the funds into a disability savings account without penalty.

• The account should be easy and inexpensive to open, like a simple savings account.

• Unlike some savings instruments, such as “529” college accounts, the ABLE Act accounts would be created and regulated on the federal level, so they would operate under the same rules in every state, ensuring that they are portable for individuals and families who move across state lines.

• Individuals and families who find that the current individual or pooled trusts available under the Medicaid program will better address their needs may roll-over the account into the trusts.

• The ABLE accounts can be managed by pooled trusts, if the individual or family so choose. In a manner similar to the treatment of Medicaid trusts, funds remaining in the accounts at the individual’s death would be used to “pay-back” the state Medicaid program up to the value of services provided to the individual during life.

The ABLE Act would give individuals with disabilities and their families an option for saving for their future financial needs in a way that supports their unique situation and makes it more feasible to live full, productive lives in their communities.

The entire bill can be found in both text and PDF form at:

http://thomas.loc.gov/cgi-bin/query/z?c111:S.493:

Unite Bloggers for World Rare Disease Day!

In doing some research of my own, and sharing some info with some of you here in Spectrum, I came across the following information.

The below event is sponsored by the Children's Rare Disease Network ( )  and thought it to be relevant information to share the Spectrum community for those who wish to participate. http://www.crdnetwork.org/

As we speak out about NMO with the intent to be heard and others to be made aware of this disease, the more voices that speak, the louder that voice is.

Whether it be thru this event or here at Spectrum, please do spend just a moment or two of your valuable time to get involved and share the things you see, have learned or have experienced!

Jim

BLOG for Rare Disease!

We want to unite bloggers to raise awareness and support for rare disease.

How can you help?
We need everyone - moms, dads, family, friends, medical bloggers, pharma bloggers – anyone with something to say about rare disease.  There is no limit on the number of posts, the type of posts or the direction of thoughts and opinions.

If you would like to be a part of the first ever “Blog for Rare” project, email Catherine Calhoun at hellocatcal@gmail.com.  Email your link by Friday, February 19, 2010 with subject line “Blog for Rare.”

“Blog for Rare” goes live on the Children’s Rare Disease Network blog, SNiPs, the week of World Rare Disease Day (February 28, 2010).

You can also read this on www.crdnetwork.org/blog

The Women's Conference Presents

Response by Victoria Jackson, Founder of The Guthy-Jackson Charitable Foundation

I don't want to do anything too ambitious. Maybe lose 5 pounds. Take a cooking class. Oh. There is one more thing. I'm going to cure a rare disease called NMO (Neuromyelitis Optica). A year ago, my 16-year-old daughter got the diagnosis. NMO is one of about 7,000 diseases that are so rare that little or no money is spent on research, prevention, medicines or cures -- the bottom line being they don't have profit potential. Last year, my husband Bill and I created a Foundation to do just that. We had a three-day symposium in November, and brought doctors in from Harvard, Stanford, the Mayo Clinic, Scripps, and even England and Japan, but the biggest deal was Patient Day (my daughter's idea; why can't I be more like her?) -- we flew in those who have NMO, and their families. 

Now, for the first time, there's an NMO community. One day my daughter said, "Mom, this is bigger than you and me." She's right. That little piece of wisdom got me right out of my own personal fear and into warrior mode. If we find the cure for NMO, that might be the domino that knocks down MS and a lot of other autoimmune diseases. So NMO is going to stand for NO MORE ORPHANS. 

But first things first: MY 2010 TO DO LIST: 

1) CURE NMO (Neuromyelitis Optica)

2) Once that's done, begin curing all orphan diseases

3) Start cooking class

4) Lose 5 pounds

5) Lose five more if cooking class goes well

This text is a post from The Women's Conference, XX-Effect website.  To read the original post please visit: http://www.womensconference.org/victoria-jackson-2/  and to read more posts please visit: http://www.womensconference.org/xx-effect-2010-to-do-list/ 

This was written over four years ago, and was originally entered at Devic's Support.  In total now, I've had six attacks, three of LETM, and three of Optic Neuritis.  I have been neurologically stable on Rituxan (Rituximab) infusions for two and a half years. 

Grace:

April of 2005, began as any other April past. I was busy with
child rearing, and working hard to make ends meet. Life wasn't perfect,
but neither was it bad. At the beginning of the second week of April,
I awoke one morning feeling *sick*. I had a lot of congestion, a
cough, a bit of numbness in my right leg, and the strangest sensation
on my skin---like my skin was actually *sore*. Just the feel of the
bedclothes seemed to make me hurt. I scheduled an appointment with my
PCP, who sent me for Chest X Rays, and determined that I had pneumonia.
I picked up my prescriptions, and went off to work, never skipping a
beat.

Over the next few days, I began to feel better and better, with the
exception of the extremely odd sensation of *sore* skin. On April
22nd, I worked a full day, as usual, and went to bed a relatively
healthy, or so I thought, woman. I can vividly remember hearing my
alarm go off the next morning. I had to be at work early, for morning
duty, and as usual, I took a flying leap out of bed----only this time,
I fell on the floor, paralyzed form the ribcage down. I had also lost
bladder and bowel control.

My daughter was kind enough to drive me to our small local hospital.
After a thorough examination in the ER, including a sacral and lumbar
MRI, I was told that nothing *showed up* and that possibly my paralysis
was *hysterical* and a result of overwork. (I was a workhorse.) I
knew better, but figured that *Who was I to argue with reputable
physicians?*. Over the course of the night, the paralysis spread, and
by morning, I had lost almost all function from the nipple line down.
My ex husband came to pick me up, and took me back to the hospital.
Luckily, the emergency room physician who was on call, recognized my
symptoms as a compromised spinal cord, possibly injury related or an
infarct, and he immediately sent me by ambulance, to the University of
Pittsburgh's, Presbyterian Hospital.

Once there, I was quickly diagnosed with Brown-Sequard Paralysis and
Transverse Myelitis, and put on IV SoluMedrol. I responded fairly
well, and at the end of several weeks, was transferred to a Rehab facility,
where I continued to improve. I'd done a lot of research about TM, and
I was relieved that it was most often a monophasic disorder, confident
that things could only get better. I had even researched Devic's and
had thanked God that I didn't have it, realizing that things could be
worse. How much worse, I didn't realize then.

Roughly 8 weeks after my initial illness, I was sitting on my floor,
drinking a cup of coffee and chatting on the phone to a friend. I told
him to hold on for a minute while I went to the kitchen to get myself
another cup of coffee. I rolled over onto my knees, preparatory to
rising, and realized that I had no feeling in either of them.
Thinking that they had simply gone to sleep, I struggled up and slowly
stretched my legs out----but they remained numb. By morning, I was
numb from the armpits down. Again, I was ambulanced to Pittsburgh.
I was again put on IV SoluMedrol, and my blood was sent to the Mayo
Clinic for the NMO serum auto-antibody test. This time, I was
refractory to the SoluMedrol, so I underwent plasmapheresis, which I
credit with saving my mobility. By the third treatment, I could stand,
and by the fifth, I could drag myself around with a walker or cane. In
the meantime, my blood was sent to the Mayo Clinic for a serum antibody
test for Devic's. It came back positive. I was destroyed, as I had
enough sense to realize that my disease had already declared itself as
relapsing. Life as I knew it, had undergone a huge change and would
never be the same again.

Since then, I've been hospitalised twice. Once for spasms---Oh God
they were horrific, taking me straight to the ground---and once for
optic neuritis. I responded well to the SoluMedrol for my vision
problem, and though my sight is not back to where it was, I can now
read without too much difficulty.

Recently, I had to stop taking Imuran, due to experiencing severe
nausea and vomiting upon titreing up to 200 mgs. I'm currently on
CellCept 1000mgs, and Prednisone 60mgs to be weaned down to 40 mgs at
the end of 4 weeks. I hate having to take prescriptions just to stay
healthy. It almost lulls one into a false sense of security. I have
to remind myself every day, not to become relaxed and complacent, but
rather to *hope for the best, but expect the worst.*

Keith is the first *real* case of Devic's that I have come into contact
with. His courage inspires me. Whenever I hear that song *The Wind
Beneath My Wings*, I think of him and smile. His story, and his
remarkable recovery lend me some small measure of courage. It's my
hope that we'll discover more cases, that we'll be able to use this as
an information forum, and that awareness of rare orphan neurological
diseases will increase. I feel so honored that they have invited me to
join.

Update:

It's been over two and a half years now, since I first became ill.  If I had known beforehand, what was coming for me, I doubt that I would have had the courage to face it.  It's been six hospitalisations since that first morning.  Three for myelitis, and three for optic neuritis.  Several times I required plasmapheresis, and spent several weeks in the hospital.  The potential for permanent blindness is the most difficult thing that I have ever had to consider, much more so than the possibility of permanently losing my mobility.  I need my eyes, so that Tim, Sandy and I, can continue to  supply information to our many members here at Devic's Support. 

Currently, I am doing Rituxan infusions, in the hopes of controlling my disease.  Rituxan is a monoclonal antibody, usually reserved for Non Hodgkins Lymphoma patients, or those with debilitating Rheumatoid Arthritis.  It has shown some promising results in clinical trials for Devic's-NMO, and I am hoping that it will lengthen the amount of time between my relapses.  Sadly, at this point in time, there is no therapy that is a guarantee, and individuals continue to experience catastrophic attacks, being left with severe neurological deficits---still, Rituxan offers a chance, at least.

Despite the seriousness of this illness, I have found it to sometimes be a blessing in disguise.  It has helped me to get my priorities straight, to realize just what *is* and *is not* important in this life.  I have had the pleasure of making the acquaintance of many extraordinary individuals involved in the medical field, both in research, and as clinicians.  I've been blessed with a wonderful neurologist, from the University of Pittsburgh, who is on top of this disease at it's every turn.  And of course I have formed many loving and lasting relationships within the Devic's-NMO community.

My wish is, that this disease will gain more recognition, and more research funding.  Yes, it is an orphan disease and as such does not draw much attention, but the fact remains that for those of us who become ill with this, who end up paralyzed, blind and vented, and sadly, who sometimes pass, it's a very real concern indeed.               

New NMO Clinical Trial

Now enrolling at the Mayo Clinic

Mayo Clinics in Minnesota and Arizona have launched a new clinical trial for NMO patients. The purpose of the database is to determine if eculizumab, a monoclonal antibody that interferes with complement activation, reduces the frequency of NMO attacks or improves outcome.

The Primary Outcome Measures the reduction in number of NMO attacks and determines safety for NMO.The Secondary Outcome Measures improvement in the quality of life, visual function and walking, and determines drug levels in blood and CSF.

Experimental Drug Intervention:

The patient will receive eculizumab at a dose of 600mg intravenously (by infusion into the vein) each week for

4 weeks, 900mg intravenously at the fifth week, and 900mg every 2 weeks for 48 weeks.

The first infusion will be given at Mayo Clinic (Minnesota or Arizona); subsequent infusions will be

administered at home by a nurse employed by Coram Home infusion services (coordinated by a Study

physician).

Eligibility

Patients must be NMO-IgG seropositive, and have a diagnosis of NMO (defined by 2006 criteria) or an NMO

spectrum disorder (recurrent optic neuritis or longitudinally extensive transverse myelitis).

Clinical evidence must document at least 2 relapses in the past 6 months or 3 relapses in the past 12

months (at least 1 relapse in the preceding 6 months).

The patient must be at least 18 years old.

If you are interested in this study and would like to learn more about it, please contact the investigators at the following locations:

Mayo Clinic - Arizona Principal Investigator: Dean M. Wingerchuk, M.D.

Contact: Irene Galasky 480-342-6104

galasky.irene@mayo.edu

Mayo Clinic - Minnesota Principal Investigator: Sean J. Pittock, M.D.

Contact: Karen Brekke 507-538-3761

brekke.karen@mayo.edu

Contact: Connie Brekke 507-266-3196

brekke.connie@mayo.edu

For more information please visit http://clinicaltrials.gov/ct2/show/NCT00904826

Why Should We Care About NMO?

A year ago, my 16 year-old daughter was diagnosed with a rare disease called NMO (Neuromyelitis Optica). NMO is what they call an “orphan disease”—meaning, not enough people have it to justify the time, money and energy required to effect a cure. Last year, my husband Bill and I created a Foundation to give grants to doctors and researchers—and bring those “orphans” together.

I knew it would be tough to get the world to care about an illness that so few of us have. Most people are too kind to say that in so many words, but I’d like to tell you why NMO matters.

That’s the question I always want to be asked first. Because it would probably be the question I’d ask. I’ll answer with another question: What are the requirements of compassion? In the Not-So-Golden Age of reality shows and the 24-hour news cycle, what does it take to get our attention? A police chase? Genocide? Celebrity scandal? I think what it comes down to is the quality of the attention we choose to give; that defines our humanity, our “tribe.” Look, I’m a mom. When my daughter was diagnosed with NMO, I did what any mom would do: after the tears, I went into battle mode. But unlike most moms out there, I had the resources to build an army, and create a Foundation.

If you asked, Would curing NMO help unlock the cure for other diseases, like MS? Probably. But let’s take NMO and MS out of it—and ask the question again. Why should we care? The answer simply is, “Because caring is the best part of us.” Don’t get me wrong, I’m on a mission. I will save my daughter. But it’s become much bigger than that. Through the Guthy-Jackson Foundation, I’ve adopted a lot of orphans. I have a whole new family—dads and daughters, moms and sons. That was something I could never have imagined, and it has filled my heart. So: Why should we care? Because caring fills the heart and soul, and is the very best part of who we are—and who we can be.

—Victoria Jackson

Q & A about Neuromyelitis Optica Spectrum Disease with Ben Greenberg, M.D, M.H.S. 

A top clinician in NMO, Dr. Benjamin Greenberg talks with Spectrum about NMO treatment, diet and more...

 Q - What are the most effective treatment options?

To date there are several options for treating neuromyelitis optica, such as rituximab (Rituxan®), mycophenolate mofetil (Cellcept®) and azathioprine (Imuran®). There have been no head to-head trials of these agents, but they all have data to support their use in NMO. Choosing amongst them is based on pros and cons that are specific to each individual patient.

Q - What are the long-term effects of treatments including steroid infusions?

The long-term effects of treatments are dependent on the treatment used and can be quite variable. In general, here is a partial list of known long-term effects that should be considered:

1. Steroids – long-term exposure to steroids can increase the risk of diabetes, hypertension, highcholesterol, cataracts, osteoporosis and infections. Therisks are related to both the duration of exposure and dosage used.

2. Rituximab (Rituxan®)– There are no long-term studies looking at risks of exposure to rituximab. In the short term, the biggest risk is of infections. There have also been reported cases of a brain infection, called PML (progressive multifocal leukoencephalopathy) in patients on rituximab, although the link is unclear.

3. Mycophenolate mofetil (Cellcept®) and Azathioprine (Imuran®) – The major long-term risk of these agents is infection. In studies that followed transplant patients who were receiving these drugs for 10 years or more, there was an increased risk of certain cancers – including lymphoma and melanoma. This risk seems to be

lower with mycophenolate, but this data is limited. Based on the risks, patients on one of these agents should wear hats, sunscreen and have annual dermatologic exams.

Q - Are there side effects to so much exposure to MRIs (such as cancer)?

Great question. The short answer is, “No.” MRIs are very different than Xrays and CT scans – there is NO radiation. MRIs have been around for more than 20 years. While there have been no formal studies tracking patients over time, there are also no indications that repeated exposure to a MRI machine increased any health risks. There are dangers to a MRI if you have implanted devices or metal, because it uses such a huge magnetic force, so discuss the short-term safety with your doctor if this applies to you.

Q - What is the most effective treatment for stopping attacks?

I wish I knew. Anecdotally, rituximab, mycophenolate mofetil and azathioprine probably are about equally effective, but there are some patients who clearly have a better response to one or the other drug.  We can tell who is who yet, so in general we say start with one and switch if a relapse occurs or side effects occur.

Q - How does diet affect most NMO patients?

We don’t know! There are no studies assessing the role of diet in groups of NMO patients. From experience, I can tell you that the better the general health of a patient, the better they do with the ups and downs of NMO. Some patients find a selective diet they feel help their disease and this is fine, as long as there is adequate balanced nutrition.

Q - What is the current main approach to curing NMO?

There are many active NMO programs around the world trying to cure this disease. Our treatments are good, and for some they are potentially cures. But some patients continue to have relapses despite therapy. New drugs are being evaluated all the time and new treatment modalities are in clinical trials. The approach to a cure is very individualized. I recommend that if a patient is not responding to one of the first-line therapies mentioned above, that they seek care at a tertiary center with specific programs in NMO.

Q - Anything else?

The one thing I would add is that there is tremendous hope in the world of NMO. I would argue, potentially more hope than in diseases such as MS. Understanding this disease is accelerating and new treatments are on the horizon. The medical and scientific processes can never go fast enough for our patients struggling with these issues every day, but it is moving. There is every reason to believe that true cures for this disease will be found.

Dr. Greenberg is the Deputy Director of the Multiple Sclerosis Program and Director of the new Tranverse Myelitis and Neuromyelitis Optica Program at University of Texas Southwestern Medical Center.