Compassionate Allowances Outreach Hearing on Rare Disease

238 Pages·2008·0.5 MB·English

by  Social Security Administration

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1 SOCIAL SECURITY ADMINISTRATION
2 COMPASSIONATE ALLOWANCES OUTREACH HEARING
3 ON RARE DISEASES
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5
6 Washington, D.C.
7 Wednesday, December 5, 2007
8 The Outreach Hearing on Rare Disease
9 Began at 9:25 a.m.
10
11 BEFORE MEMBERS:
12 MICHAEL J. ASTRUE
13 STEPHEN GROFT
14 FRANK CRISTAUDO
15 DAVID RUST
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20 Reported by: Kathy Savich, RPR
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1 P R O C E E D I N G S
2 MS. BRAUNSTEIN: Good morning. On
3 behalf of the Social Security Administration,
4 I would like to welcome you. The room we are
5 sitting in is the property of the
6 International Trade Commission. They were
7 gracious enough to lend us this space, and
8 they've asked that I make the following
9 announcement.
10 If you hear the sounding of an
11 emergency alarm, please go out the back door
12 which is straight back, then proceed to the
13 end of the block and people will find you and
14 give you instructions.
15 And there's no cell phones to be
16 used and no food is allowed in this room.
17 Thank you very much.
18 COMMISSIONER ASTRUE: Welcome to
19 day 2 of this hearing. Before we begin, we
20 have a slight shuffling up here. Officially,
21 as a New Englander, I'm horrified that Dave
22 Rust is late because of the weather.
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1 Washington, as you know, shuts down for about
2 two days for every inch of snow that we have.
3 And he -- David, in his defense, is coming in
4 from Damascus, Maryland, which is quite a
5 distance from here. So he will be here. He's
6 on his way. He's upset that he's not here
7 already, but he should be coming in shortly.
8 We did know that Dr. Stephen Groft,
9 who sat in yesterday and contributed so much,
10 had a presentation this morning. They did
11 move him from third to first, I believe, on
12 the panel so he could get here more quickly,
13 but we have David Eckstein from NIH sitting in
14 in his place, so I think we'll be extremely
15 well-served.
16 I recognize a lot of the people in
17 the audience here for day 2, so I won't go
18 through our purpose, and think we want to get
19 to the panelists as quickly as possible and
20 give them as much time to make their
21 presentations and have an exchange with the
22 panel. But I think for any of you who were
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1 not here yesterday, our purpose here is to try
2 to change the way in which the agency
3 processes medical information so that we can
4 decide disability cases more quickly and more
5 accurately and, ultimately, that means more
6 compassionately.
7 We've got several themes. We're
8 looking for diseases and conditions that we
9 ought to be able to fast-track. We have new
10 computer model techniques that can cull
11 electronically filed applications out of the
12 system extremely efficiently, but -- using
13 certain key terms. We're in the process of
14 taking the first of what should be a two-track
15 system national now. It's worked very well in
16 New England. It's rolling out through the
17 rest of the country.
18 We're looking to create a second
19 track that should be even faster and easier
20 for diseases where, by nature of the disease
21 or condition, we're simply going to presume
22 disability.
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1 We also are looking to use
2 biomarkers, imaging data and other new
3 scientific developments in ways that we
4 usually haven't used them in the past to try
5 to draw clear lines in large diseases and
6 conditions, to try to find subpopulations
7 where we can say with a high degree of
8 certainty that the subpopulations meet our
9 statutory standard for disability.
10 And as an example of this that
11 we've done recently, we've just updated our
12 digestive regulations for the first time in a
13 very long time, and we collapsed most forms of
14 severe liver disease into one category and
15 said that, using a common diagnostic scale
16 that has three components called the MELD
17 score, if you have a score of 22 or more,
18 we're simply going to presume disability.
19 We're looking at doing more of
20 that. We're also -- we've had great success
21 partnering so far with NIH, and we're
22 discussing trying to run some clinical trials
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1 to try to tie biomarkers to functionality.
2 So we're looking at questions
3 whether we can use MRI scans to identify the
4 most seriously affected multiple sclerosis
5 patients. We're looking at questions as to
6 whether we can use some of the nifty new
7 techniques in cardiac imaging to measure blood
8 flow to the heart in perhaps the same way the
9 we have MELD scores, say, if you're just not
10 getting enough oxygen because you don't have
11 enough heart function, we can't reasonably
12 expect you to perform the functions that we
13 use to determine whether you can engage in
14 substantial gainful activity.
15 So that's essentially the purpose
16 of today's hearing. Today is the first, but
17 it's not a one-shot deal. This is part of a
18 planned quarterly process. They won't all be
19 on rare disease. The next one is on cancer.
20 We're going to be doing psychiatric diseases,
21 traumatic injuries, and then we'll be rolling
22 through a regular schedule. So if you have
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1 any interest -- the next three are set -- you
2 should talk to Diane Braunstein, because she's
3 coming in here, to get the details for future
4 hearings.
5 So, again, I want to thank you all
6 for coming today. I'm sure today's panelists
7 will be as terrific as yesterday's were. I
8 don't know -- David, Frank, do you have
9 anything you want to say to open?
10 Okay. I think we're good to go,
11 and we can welcome our panelists.
12 Our first panel today, we have
13 three guests. We have Kathy Hunter who is the
14 founder and president of the International
15 Rett Syndrome Association. We have Craig
16 Polhemus who is executive director of the
17 Prader-Willi Syndrome Association, and we have
18 Vicky Whittemore who is vice president and
19 scientific director of the Tuberous Sclerosis
20 Alliance.
21 Thank you and welcome.
22 Kathy, do you want to start for us
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1 or do you have a set order, somebody who wants
2 to start?
3 MS. HUNTER: I'll be happy to.
4 COMMISSIONER ASTRUE: Okay. Great.
5 MS. HUNTER: Mr. Astrue, Mr. Groft,
6 in absence, Mr. Cristaudu, Mr. Rust and
7 fellow --
8 COMMISSIONER ASTRUE: Hold on a
9 second. We need to do a mike check, I think
10 here. I think we have the mikes on. We
11 discovered yesterday that you have to speak
12 extremely close to the mikes, more so than
13 usual so that you cannot only be heard here,
14 but theoretically we have people listening all
15 over the country who have dialed in. So I'll
16 ask you to speak very close to the mikes.
17 MS. BRAUNSTEIN: If I could ask,
18 there is a delicate balance. It's close, but
19 not loud. So good luck.
20 COMMISSIONER ASTRUE: All right.
21 We'll jump in if we have a problem.
22 MS. HUNTER: And fellow members,
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1 thank you for this opportunity to participate
2 in this Compassionate Allowances Outreach
3 hearing on social security benefits for those
4 with rare disorders. I deeply appreciate your
5 consideration of seeking ways to better serve
6 this population.
7 My comments today are based on my
8 experience as founder and president of the
9 International Rett Syndrome Association for
10 the last 23 years and as the mother of a grown
11 child, now 33 years old, with Rett syndrome.
12 By way of background, Rett syndrome
13 is a genetic and neurological disorder which
14 affects one in 15,000 females. It's seen
15 primarily in girls who develop typically for
16 the first 12 to 18 months of life, after which
17 a devastating regression leads to loss of
18 speech, mobility and hand function. Seizures,
19 breathing problems, gastric difficulties and
20 loss of muscle tone and ambulation are common.
21 Rett syndrome results in severe to profound
22 disability by the age of three years.
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1 Individuals with Rett syndrome need assistance
2 for every aspect of daily living for the
3 remainder of their lives. They will never be
4 self-supporting wage earnings.
5 While it is not the label, but the
6 extent of the disability which frames
7 eligibility with social security, in Rett
8 syndrome, it can be assumed that any
9 individual with a label should qualify
10 unquestionably. However, as a rare and
11 relatively newly discovered disorder, Rett
12 syndrome is not widely recognized, even in the
13 medical community at large. This makes a
14 particular problem for families advocating for
15 their loved ones when making application for
16 social security benefits.
17 Adjudicators and even the allied
18 medical community more often than not have
19 never heard of Rett syndrome and may even have
20 difficulty locating printed resources on the
21 disorder. The typical response to saying that
22 your child has Rett syndrome is, "What