Newborn Screening Research

MLD Newborn Screening – We need your blood & urine!

The MLD Foundation is collaborating with researchers at the University of Washington who are working on developing a newborn screen for MLD that would hopefully address the problems encountered with traditional screening approaches caused by the MLD pseudo-deficiency.

For their work they need samples of blood and urine from 15 affected MLD individuals. All samples would be anonymous/de-identified to the researchers.

Criteria for participating is:

  • A confirmed diagnosis of MLD (No age restriction)
  • No treatment (no transplant)
  • Living within the US (due to need for quick return once samples are drawn)
  • Willingness to prick the skin to obtain blood
  • Willingness to follow instructions to obtain samples
  • Agree to mail samples within 24 hours of obtaining them
  • Agree to release the MLD Foundation and the University of Washington from any liability

If you would like to participate, please send an email to

We will respond with the release and send you the packet to obtain the samples.

We hope to have the sample collections completed in the next two weeks.

Thank you for considering to help develop a Newborn screen for MLD.

Policy Research

US Announces BRAIN initiative with $100m of 2014 funding

President Obama today announced the Brain Research through Advancing Innovative Neurotechnologies (BRAIN) initiative and an anticipated $100M of US government funding in the next fiscal year. That is part of several hundred million more committed by private partners and foundations to this project to better understand how the brain works.

NIH Director Francis Collins discussing the BRAIN initiative

NIH Director Francis Collins – “It aims to bring together nanoscience, engineering, and neurology to make sense of how the brain works—how those circuits in the brain allow us to do all the complicated things that we currently don’t understand.”

There is a lot to understand and while we love the focus on the basic science of the brain – we anxiously await, and hope to contribute to, the goals of this project. And we can’t forget the European Commission’s €1bn award to their Human Brain Project.

What do you think? How would you like to see all of this support work together?

Not everyone is pleased:


I’m Thankful …

Today in the United States we celebrate Thanksgiving.  Canada celebrated a few weeks ago and according to Wikipedia at least 7 other countries celebrate a similar holiday at various other times of the year.

This is the 149th anniversary of formal observance of Thanksgiving Day

Action Alert Policy

Fiscal Cliff & Sequestration

Backgrounder … What is this & why do or should I care?

Fiscal cliff – the effect of a series of enacted legislation which, if unchanged, will result in tax increases, spending cuts, and a corresponding reduction in the budget deficit. These laws include tax increases due to the expiration of the Tax Relief, Unemployment Insurance Reauthorization, and Job Creation Act of 2010 and the spending reductions (“sequestration”) under the Budget Control Act of 2011.

Sequestration – the act of removing, separating, or seizing anything from the possession of its owner under process of law for the benefit of creditors or the state.

What is the 2013 Fiscal Cliff & Sequestration?

On January 1st, 2013, due to lack of bipartisan agreement  by Congress mandatory tax increases and spending cuts will automatically go into effect.

Sequestration is part of the mandatory requirement of the Budget Control Act of 2011, which was driven by the Republicans’ insistence on spending cuts as their condition for agreeing to raise the debt-ceiling limit in 2011.

How will the Fiscal Cliff & Sequestration affect me … and the NIH?

The tax increase will affect every nearly American in one way or another. There is considerable debate as to if the benefits of the cuts and these ensuing increases disproportionately impact the rich.

Over a trillion dollars of cuts over 10 years are mandated. The Fiscal Cliff January 1st 2013 spending cuts are estimated at 10% for non-war military spending and 8% for all other discretionary government spending, which includes the NIH.

The NIH had $31 billion in President Obama’s 2013 budget proposal – the entire budget was unanimously rejected by both houses of Congress this past spring.

A more financially focused article on the Fiscal Cliff can be read here.

What should we do?

The easy answer is for each of us to lobby that our favorite program not be cut and that all cuts instead be directed elsewhere.  Or we could “kick the can” down the road, maintain the status quo with our deficit spending and hope the can isn’t too big when we have to kick it again in a few more months.

Should we lobby Congress to keep NIH funding intact and cut elsewhere? Let me digress for a moment …

I’m a MLD dad. I’ve lost one daughter to MLD and have another who is terminal with the disease.  It sucks.  More money might accelerate the research towards a viable MLD therapy. There are over 7,000 rare diseases. 1 in 10 Americans have a rare disease.  Everyone wants a therapy for their disease – no one disease is any more or less deserving than MLD.

But I’m also a fiscal conservative and know that somehow we have to pay for what we spend and we can’t spend all of our credit right now and have none left for the future.  We must be prudent and reasonable about what we spend and how we spend it.

So no, I do not think maintaining the NIH budget and pushing the problem to other budget line items is viable.  And I do not think focusing on FY2013 budgets without addressing the bigger issue is anything but kicking the can down the road where it will only get so big that soon we will not be able to kick it at all! We must deal with the core budget (income/spending) deficit and national debt issues.

So I believe the answer is actually much more complicated.  I’ll elaborate in my next blog post which will include several ways you can get involved and take action.

Subscribe to blog updates here:


More Background:

These are all part of the same problem … fiscal irresponsibility by Congress and the citizens who enable them to spend like they do.

Massive Federal Debt

US Federal Debt
US Federal Debt – click to enlarge
  • Our current federal debt crossed over 16 trillion dollars in September 2012.
  • The US government is borrowing 33 cents of every dollar it spends.
  • Each citizen’s share of this debt is $51,800.
  • The National Debt has increased and average of $3.88 billion per day for the last 5 years!
  • Interest payments on the national debt are now more than $200 billion per year.

No Federal Budget

  • We have not had a federal budget since April 29, 2009, rather the divided House & Senate have used Continuing Resolutions to keep the government operating.
    • On 2/13/2012 President Obama submitted his 2013 budget to Congress.
      • This proposal never had an annual deficit of less than $748 billion, would double the national debt in 10 years, and would see annual interest payments approach $1 trillion per year.
    • The Republican controlled House voted it down 414-0 in March
    • The Democrat controlled Senate voted it down 97-0 in May
    • How is the Budget Supposed to Be Put Togetherclick here
  • In September, the House passed a Continuing Resolution (CR) budget appropriation covering the first six months of FY2013 (October 2012 – March 2013) by a vote of 329-91.

How Washington Spends Our Money

  • In FY2011, Washington spent $3.6 trillion.
  • The last time the budget was balanced was ten years ago in 2001, when Washington spent $1.8 trillion ($2.1 trillion when you adjust for inflation).  Our current spending is 50% higher than it was back then.
  • Entitlement spending will more than double by 2050. That includes spending on Medicare, Medicaid and the Patient Protection and Affordable Care Act (PPACA or Obamacare) subsidy program, and Social Security. Total spending on federal health care programs will triple over this timeframe.
  • Taxes paid per household have risen dramatically, hitting $18,400 in 2010 (compared with $11,295 in 1965).
  • Federal spending per household is skyrocketing. Since 1965, spending per household has grown by nearly 162 percent, from $11,431 in 1965 to $29,401 in 2010. From 2010 to 2021, it is projected to rise to $35,773, a 22 percent increase.

Gamesmanship and Desperation Results in the Budget Control Act of 2011

In late August 2011, in an effort to solve the immediate debt ceiling limit problem, and as a result of Congress’ failure to reach a bi-partisan debt-reduction deal, the Budget Control Act of 2011 call for mandatory automatic tax increases and spending cuts starting January 1st, 2013 resulting in a $1.2 trillion in deficit reduction over 10 years.

  • The Budget Control Act calls for cuts equaling about $100 billion a year, centered mostly in the discretionary portion of the federal budget.
    • Non-discretionary programs such as Social SecurityMedicaid, food stamps, and more  – would not be affected.
    • Medicare, another broad-reaching program, could see spending cuts of 2 percent under the law.
  • The challenge is that discretionary spending is a modest (18%) portion of the entire budget.
    • Balancing a budget that is out of whack by over a third using a slice of the pie that is only 18% is not a recipe for success.
  • An excellent article about the history of the sequester can be found here.

The Brutal Arithmetic of the Budget Deficit

  • Our spending is $3.6 trillion a year
  • $2.4 trillion comes in via taxes
    • 46 percent from individual income taxes
    • 35 percent from payroll taxes meant for Social Security and Medicare
    • 10 percent from corporate income taxes
    • 9 percent from estate and gift taxes, excise taxes, and others.
  • $1.1 trillion is borrowed … almost 1/3 of our spending is borrowed!
  • Some say we should …
    • Tax corporations more.  If we doubled their taxes that would address less than 25% of today’s deficit, not a practical plan – but this would only be a dent nonetheless.
    • Allow the Bush tax cuts to expire for earners over $250,000 … that would only address 9% of the current deficit.
    • Shut down the entire DC government … aside from the Pentagon and entitlements. Fire every one of the 2.8 million federal employees, close the buildings they work in, and eliminate the government services they provide saving $371B … even this extreme solution is less than 1/3 of the deficit.
    • Raise taxes on the middle class … frankly, this is where the real money is.
    • Address Entitlements (non-discretionary spending)  … Medicare, Medicaid, and Social Security which total $2.025 trillion (59% of our spending) … this is where the fiscal leverage is – unfortunately it’s where the lobbyists and voter blocks are as well.
    • Address military defense spending… $700B (19% of our spending)
      • About 1/3 of these expenses go directly to active and retired personnel in the form of salaries and benefits

More Perspectives

  • “While both parties are culpable for sequestration because the Budget Control Act passed Congress, the president proposed it originally and ultimately owns its outcome,” said Mackenzie Eaglen, with the conservative American Enterprise Institute. “That is because he alone can lead by calling the party leaders together for a resolution today if he wanted as president.”
  • Other see the two parties as co-owners of sequestration, especially since Republicans in Congress voted for the law that set up its possibility. In the House, 174 Republicans and 95 Democrats voted for the law, while 66 Republicans and 95 Democrats opposed it. (Final tally: Passed 269-161.) In the Senate, 28 Republicans and 45 Democrats voted for it, while 19 Republicans and 6 Democrats opposed it. (Final tally: Passed 74-26)
  • Rep. Judy Chu (D-Calif.) says “Sequestration was never intended to be good fiscal policy. It was never intended to be policy, period. When Congress passed the Budget Control Act in 2011, they formed the Joint Select Committee on Deficit Reduction, more commonly known as the Super Committee, to cut nearly a trillion dollars from the federal budget. Sequestration – a fancy word for painful cuts to every area of the 2013 budget – was a failsafe in case Super Committee negotiations broke down. The plan was simple: By passing sequestration into law, Congress was creating a deterrent against its own gridlock. The law was so unpalatable to both sides – Democrats wanting to avoid cuts to social programs, and Republicans wanting to safeguard defense spending – that theoretically, everyone would negotiate in good faith to avoid it.”
  • Scott Lilly at the liberal Center for American Progress has done his own analysis of the problem, noting that the cuts of about 8 percent would go into effect after the fiscal year is already three months old. That means agencies might really find themselves scrambling to reduce outlays by about 12 percent in the remaining nine months of the fiscal year.
  • Many finance experts say the larger lesson that emerges from the sequester law is this: America’s giant fiscal problem appears impossible to solve if two big tools – entitlement reform and tax-revenue changes – are left on the sidelines. So far, Republicans in Congress have insisted that fiscal progress be sought only through spending cuts, while Democrats have shied away from entitlement changes that might result in leaner benefits and have preferred to raise income through taxes.

References & Links

Politifact on Sequestration:

CS Monitor on Sequester:

Republican position:

Operating Without A Budget:

Bush Tax Cuts:

Budget Control Act of 2011:

CNN on the Fiscal Cliff:

US Fiscal Cliff:

The Federal Budget: Issues for FY2013 and Beyond  – prepared for the members of Congress:

Advocacy Awareness Education General Newborn Screening Policy Research

RARE Patient Advocacy Summit – 2012

I was pleased to be the organizer and host for the RARE Project | Global Genes RARE Patient Advocacy Summit on September 29th, 2012. The day-long event with 140 in attendance and over 120 viewing via a live webcast.  Videos of the event are available below for viewing.


PDUFA – 20 Disease Meeting followup … Firestorm – not!

Thank you all for your response to my recent request to send letters to the FDA on the Patient-Focused Drug Development initiative last week.  Quite a number of you (dozens) responded on behalf of rare disease in general and many on behalf of MLD or lysosomal disease specifically.

As I mentioned in my prior post, we will always be partial to MLD because of our roots – but it’s really the more general rare disease issues that are important to me in most of these policy discussions. Those that know me well know I have a real passion for the rare disease community.

I wanted to address one issue that has come up a couple of times including a recent blog from NORD.  They have twice described the engagement of rare disease advocates in the process as creating a “firestorm” at the FDA.


Thanks for your support – be notified when the blog updates

You all are awesome … we think there were several dozen letters sent to the FDA – just for MLD, and we know that the rare and lysosomal disease communities also contributed.

Many of you have asked how you can get involved with awareness that has an impact … Every letter and phone call you make puts us head and shoulders above other organizations. This is how you can help us advance the cause of MLD and similar diseases. There are a lot of things these days were the voice of the people is carrying much more impact. DC is alert to the fact that all of you are voters. In addition, we are trying to increase our involvement with international rare disease policy.


We’ll be sharing a lot more than just policy there … we’re spearheading a multi-million dollar research grant application in 2013, we’re active in the Leukodystrophy Alliance, and we’re noodling how to get the key MLD experts together to really focus research and potentially develop a standard of care.

Be sure to sign up to get notified every time there is a new blog post using the box on the top right of the page.

Action Alert Policy

FDA … 20 Diseases Being Chosen for PDUFA-V Meetings

Last Thursday, October 25th, I attended the FDA’s Patient-Focused Drug Development public meeting in Washington, DC. This meeting was required by the recently passed FDASIA/PDUFA-V legislation (see Abbreviation Decoder at end of post) and requires the FDA to hold 20 disease-specific meetings over the next 5 years to discuss topics such as:

“the impact of the disease on patients, the spectrum of severity for those who have the disease, the measures of benefit that matter most to patients, and the adequacy of the existing treatment options for patients.”

There were about 150 people in attendance and just over two dozen of us gave public testimony. The FDA is trying to get a better perspective on the needs, desires, and concerns of the patients by holding these 20 meetings.  Since we are directly impacted by the diseases we are best postured to tell them what’s most important to us.

Get involved … your letter to the FDA (see sample below) is needed by the end of the day November 1st! 

Awareness Education General Research

List of Rare Diseases

This list was prepared using data supplied by the NIH’s Office of Rare Disease Research in late 2011. Please note that your medical providers and insurance payors probably have their own lists of diseases they think are rare – this list is for quick reference only. 

Quick Jump: A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Rare Diseases and Disorders Starting With “A”

return to top

  • Aagenaes syndrome
  • Aarskog syndrome
  • Aase Smith syndrome
  • ABCD syndrome
  • Abderhalden Kaufmann Lignac syndrome
  • Abdominal aortic aneurysm
  • Abdominal chemodectomas with cutaneous angiolipomas
  • Abdominal cystic lymphangioma

Our new blog …

Welcome to the MLD Foundation’s new blog!  We’re excited to share about topics of interest to the MLD, lysosomal disease, leukodystrophy, and frankly, the entire rare disease community.

Many of you in the general public and the MLD Family know us from the family support we provide to families affected by MLD … MLD Family Conferences™, MLD Family Gatherings™, the MLD Family Discussion List™, the MLD Foundation web site, etc., but that is only a part of what we do!

We spend a lot of “behind the scenes” time working with researchers (both academic and at industry) and an increasing amount of effort affecting policy.  We are active in Newborn Screening, FDA policy (PDUFA, FDADSIA, compassionate access, Patient representative Program, etc.), NIH projects (RDCRN, CPAG, NCATS, GRDR, ORDR, etc.), educating and impacting Capital Hill (we can’t “lobby” but our voices are heard loud and clear on funding, sequester, and impacting new legislation), a slew of rare disease activities (registries, biobanks, World Rare Disease Day) and the list goes on.