Rare disorder changes Minnesota woman's life

By PATRICK SPRINGERAssociated Press Sunday, April 11, 2024

Loading...

Brenda Rehder recently found a note, written in scolding capital letters, left on the dash of her car: "You! are abusing the handicapped parking program. Shame."

To the casual observer, Rehder is the picture of health and vitality: trim, fit, enthusiastic.

But anyone who watches closely can see hints that she has difficulty walking. In fact, she has special shoes equipped with braces to help with her handicap.

Unseen, a rare spinal cord disorder is causing her muscles to become progressively weaker and more spastic.

So rare that Rehder, a 35-year-old single mother, is one of only an estimated 24,000 people in the United States and Canada with the condition.

Some day the weakness in her legs will require her to use a walker or maybe even a wheelchair. There is no way to predict the whims of the disease.

And there is no cure. Because the disease is so rare, only a few researchers are working to unlock its mysteries.

In Brenda Rehder's race against the ravages of time, the tortoise of medical science is no match for the hare of the disorder.

It started as pain, a stubborn aching in her legs. Finally, when the throbbing failed to subside, Rehder went to the doctor.

Tests ruled out rheumatoid arthritis but gave her no answers. The pain continued. Then it got worse, a burning sensation that kept her awake at night and making her work as a dental assistant almost unbearable at times.

"It was to the point I would go home and bawl," she said.

She went back in search of medical treatment, still expecting a solution for her malady was readily at hand.

"I thought they were going to tell me I needed arch supports, and they sent me to a neurologist," she said.

Tests eliminated multiple sclerosis, but the neurologist had a sobering diagnosis. Something called hereditary spastic paraplegia, or HSP.

Despite its rarity, Rehder knew all about HSP the very disease that had forced her father, Ron Mastrud, to retire early from his job with the Happy Hooligans.

The surprise in the Mastrud clan was that a female had inherited the affliction, which previously had only struck males in the family.

Finally, her doctor found a drug to relieve her pain, a combination muscle relaxant and anxiety medication. In the four years since her diagnosis, Rehder's walking ability has gradually declined.

To learn more about the disease, she attended a meeting last year of the Spastic Paraplegia Foundation in St. Louis.

While there, she met Dr. John Fink, a University of Michigan researcher, the leading expert on the disease. He told her the only hope for a cure was through greater public awareness and more research money.

A bit of added motivation came from some good-natured ribbing Rehder received from others at the convention, who teased her about her North Dakota roots following a sketch by television host Conan O'Brien poking fun at her native state.

She returned home to Moorhead and raised $5,000 for the foundation from relatives and friends, many of them colleagues in dental offices in Fargo-Moorhead.

Rehder is hoping that the broader community, if made aware of the rare disease and the need for research support, would step forward with contributions.

"I was hoping that Fargo-Moorhead would help me," she said.

Maybe even enough that someday the annual meeting of the Spastic Paraplegia Foundation would be in Fargo-Moorhead.

At the convention, Rehder and her fellow HSP patients agreed that it would be helpful if some celebrity had the condition, therefore attracting public attention and funding.

She took her turn at the karaoke microphone, joking that she'd become a singing contestant on the popular television talent show "American Idol" to help raise awareness.

The song she sang: Nancy Sinatra's hit, "These Boots Are Made for Walking."

Since 2002, supporters have raised $2.5 million for research toward a cure for hereditary spastic paraplegia and primary lateral sclerosis, a related spinal cord disorder.

Scientists have identified gene mutations that cause the disorders but have yet to unlock the disease mechanisms.

In the first round of research grants, in 2003, the foundation received only a handful of proposals. Last year, it was able to fund five of 20 proposals, said Annette Lockwood, a board member on the foundation from Fairfax, Va.

"It wasn't being researched by other groups," said Lockwood, herself a patient with HSP, which is prevalent in her family, as it is in Rehder's.

"It can be very different from family to family," Lockwood said, referring to the incidence, age of onset, and virulence of the disease.

Any child born in a family with HSP has a 50-50 chance of inheriting the disease, Lockwood said, which often shows up in middle age.

Rehder, who is determined to do what she can to boost research funding, knows any cure might come too late to benefit her. But she has a 6-year-old son, Coleman, who might grow up to discover he has inherited the disease from her.

"I just have to do something," she said. Not knowing if Coleman has the disease, or even when it will strike, keeps her awake at night.

___

Information from: The Forum, http://www.in-forum.com

Join the Discussion
Rate Article: Average 0 out of 5
register or log in to comment on this article!

0 Comments

Add Comment

Text Only 2000 character limit

Page 1 of 1

Research Exchange

Successful Sample Identification

Apr 1

2D Barcodes ensure that a multitude of samples can be tracked in a variety of storage conditions.

Multi-Parametric Cellular Analysis

Mar 23

Flow cytometers perform a variety of multi parametric applications and have been used for an expanding set of cell analysis applications over the past forty years.

Maintaining a Healthy Cell Culture Environment

Mar 23

Investing in best practices and products at the beginning of any experiment is the most time- and cost-effective way to approach cell culture.

Publishing Data That Conform to the MIQE Guidelines

Jan 22

Minimum information for publication of Quantitative Real-Time PCR Experiments (MIQE) guidelines help researchers design qPCR experiments.

Step up to the MIQE

Mar 30

Over the years, polymerase chain reaction (PCR) has evolved into a readily automated, high throughput quantitative technology. Real-time quantitative PCR (qPCR) has become the industry standard for the detection and quantification of nucleic acids for multiple application, including quantification of RNA levels. But a lack of consensus among researchers on how to best perform and interpret qPCR experiments presents a major hurdle for advancement of the technology. This problem is exacerbated by insufficient experimental detail in published work, which impedes the ability of others to accurately evaluate or replicate reported results.

Fast Optimization of a Multiplex Influenza Identification Panel Using a Thermal Gradient

Mar 30

The year 2009 was marked by the emergence of a novel influenza A (H1N1) virus that infects humans. There is a need to identify the different strains of influenza virus for purposes of monitoring the H1N1 strain pandemic and for other epidemiological and scientific purposes.

Advantages of Monolithic Laser Combiner Technology in Confocal Microscopy Systems

Jan 6

Fluorescence microscopy techniques require a reliable light source at the desired wavelength or wavelengths, with minimal downtime for maintenance and alignment. Lasers are a popular light source, although the alignment and upkeep of laser combiners is a time-consuming prospect for many users.

Size-Exclusion Chromatography for Purification of Biomolecules

Dec 2 2009

Size-exclusion chromatography (SEC) is a popular method to separate biomolecules based on their size. Primarily, it is applied to the separation of biopolymers such as proteins and nucleic acids, i.e. water-soluble polymers.

Using the Tecan Genesis Workstation to Automate a Cytometric Bead Array (CBA) Immunoassay

Mar 11

The poster describe the process involved in automating a Cytometric Bead Array (CBA) immunoassay developed to measure relative concentrations of serum antibodies against Tetanus (TT), Sperm Whale Myoglobin (SWM) and Keyhole Limpet Hemocyanin (KLH) in KLH-immunized volunteers.

Ensuring Quality in Assays Performed with Automated Liquid Handlers

Feb 2

The focus of this presentation is to highlight the need of ensuring quality in important assays performed with automated liquid handlers. Nearly all assays performed within a laboratory are volume-dependent. In turn, all concentrations of biological and chemical components in these assays, as well as the associated dilution protocols, are volume-dependent. Because analyte concentration is volume-dependent, an assay’s results might be falsely interpreted if liquid handler variability and inaccuracies are unknown or if the system(s) go unchecked for a long period.

Inkjet System for Protein Crystallography

Feb 1

X-ray crystallography is used routinely by scientists to obtain the three dimensional structure of a biological molecule of interest.Such information can be used to determine how a pharmaceutical interacts with a protein target and what changes might improve functionality. However, the crystallization of macromolecules still remains a serious hindrance in structural determination despite impressive advances in screening methods and technologies.

Attention Deficit & Hyperactivity in a Drosophila Memory Mutant

Attention Deficit & Hyperactivity in a Drosophila Memory Mutant

Nov 9 2009

Action selection is modulated by external stimuli either directly or via memory retrieval. In a constantly changing environment, animals have evolved attention-like processes to effectively filter the incoming sensory stream. These attention-like processes, in turn, are modulated by memory. The neurobiological nature of how attention, action selection and memory are inter-connected is unknown. We describe here new phenotypes of the memory mutant radish in the fruit fly Drosophila.

Type D personality among noncardiovascular patient populations: a systematic review.

Mar 30

OBJECTIVE: This article reviews all available literature concerning the implications of Type D personality (the conjoint effects of negative affectivity and social inhibition) among patients with noncardiovascular conditions. METHODS: Published papers were included if they...

STAT3 polymorphisms linked with idiopathic recurrent miscarriages.

Mar 30

PROBLEM: We investigated the association of signal transducers and activators of transcription (STAT)3 gene variants with idiopathic recurrent miscarriage (RM). METHOD OF STUDY: A case-control study involving 189 RM patients and 244 control women was carried out. STAT3...

Prokariotic Cell Collection in Denmark

Nov 6 2009

I would like to know about a prokariotic cell collection in Denmark. Is there a cell bank in this country? I need a Lactobacillus strain for a fermentation assay and this information about the bank is very helpful for me.

Request for Entries

Oct 16 2009

Ask the Experts is your chance to get the answers to questions on applications, materials, methods, processes, and technologies. Email you question to bst_web@advantagemedia.com, and the editors of Bioscience Technology will find an appropriate expert to answer it. Watch this space in the future to see the questions your colleagues are posting.

STAY INFORMED: SUBSCRIBE TO

Magazine and E-mail Newsletters

Loading...
E-mail:   

MULTIMEDIA

Video:

Neuroscience Diseases of The Brain and How The Mind Emerges

Neuroscience Diseases of The Brain and How The Mind Emerges

Nov 8 2009

Dennis Choi, director of Emory Universitys Neuroscience Center, is renowned for his groundbreaking research on brain and spinal cord injury.

Podcasts:

Allen Institute for Brain Research

Allen Institute for Brain Research

Oct 14 2009

Discussed in this interview are both the mouse brain project and the human cortex project with an emphasis on the importance of these projects to neuroscience research.

Information: