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Baylor Scott & White Neurometabolic Undiagnosed Neurological Diseases

Baylor Scott & White Neurometabolic & Undiagnosed Neurological Diseases

Effective July 3, 2020, Raphael Schiffmann, MD will no longer be with Baylor Scott & White​ Neurometabolic and Undiagnosed Neurological Diseases and the clinic will be closing. All of our practices use the same electronic medical record system and will have confidential access to your most current medical information.
Visit Us
Open from 8 a.m. until 11:30 a.m.
Monday:
8 a.m. - 4:30 p.m.
Tuesday:
8 a.m. - 4:30 p.m.
Wednesday:
8 a.m. - 4:30 p.m.
Thursday:
8 a.m. - 4:30 p.m.
Friday:
8 a.m. - 11:30 a.m.
Contact

Specialization in diagnosing rare or difficult-to-diagnose neurological conditions in both children and adults

 
 

Baylor Scott & White Neurometabolic & Undiagnosed Neurological Diseases focuses on undiagnosed diseases, which include lysosomal storage diseases and leukodystrophies as well as other genetic diseases that affect the nervous system. Raphael Schiffmann, MD, is a leader in the study and treatment of many neurological disorders, including Fabry disease and Gaucher disease.

Misdiagnosed or undiagnosed disease is a major problem in the United States. In 2015, a report from the Institute of Medicine focused on the diagnostic errors in healthcare, estimating that five percent of U.S. adults who seek outpatient care each year experience a diagnostic error. Diagnostic errors may cause harm to patients by preventing or delaying appropriate treatment or providing unnecessary or harmful treatment. 

Dr. Schiffmann, MD, MHSc, FAAN understands the frustration and discouragement caused by living with an undiagnosed disease or condition and applies knowledge acquired during 25 plus years of experience in the field of neurology to try and assist his patients. 

We are pleased to welcome both physician- and self-referred patients.

Pay Your Bill

We offer an easy, secure way to pay your HTPN bill online through MyBSWHealth.

Tools & Resources

Our services are designed with you in mind so managing your healthcare needs is as simple as possible.

  • Patient Forms
  • Appointment Information
  • MyBSWHealth
  • Pay Your Bill
  • Financial Assistance
  • Accepted Insurance
  • Online Resources

Patient Forms

To ensure that your visit to our office is as convenient and efficient as possible, we are pleased to offer our registration forms online. The patient registration form may be completed electronically and printed for better legibility or completed manually.

New Patient Registration Forms

Authorization Forms

We do not release your medical information without your authorization.

Appointment Information

Making an Appointment

Before scheduling a patient for evaluation, Dr. Schiffmann reviews all available history, along with previous test results and neuroimaging scans. Please email or fax over any imaging you have had done in the past to 214.820.4562.

What to Expect at Your Initial Visit

Initial visits take at least an hour. Dr. Schiffmann goes over the tests and scans that have been forwarded in advance of the visit, completes a detailed patient history and performs a thorough physical exam. He then discusses his impressions extensively with the patient and family.

Upon Completion of Initial Visit

The patient and/or his or her family will be presented with a detailed report, and a copy will be sent to the patient’s primary care physician, including, possibly, specific recommendations for further diagnostic testing deemed necessary to consider or rule out certain conditions.

Diagnosis may take days, weeks, months or even longer depending on the case. In spite of Dr. Schiffmann’s best efforts, it is also possible that no cause will be found for the patient’s clinical manifestations. But every possible effort will be made.

To refer a patient to Dr. Schiffmann, please call 214.820.4688.

MyBSWHealth

MyBSWHealth is an online tool where you can communicate with your providers, schedule an appointment, access and manage your family’s health.

Pay Your Bill

We offer an easy, secure way to pay your HTPN bill online through MyBSWHealth.

Financial Assistance

At Baylor Scott & White Health, we want to be a resource for you and your family. Our team of financial counselors is here to help. We encourage you to speak to a member of our team at any time – before, during or after care is received.

Accepted Insurance

Baylor Scott & White has established agreements with several types of insurances in an effort to make sure your health needs are covered.

Online Resources

  • https://www.childrensgaucher.org
  • http://theglia.org/what-are-leukodystrophies
  • https://rarediseases.org/rare-diseases/leukodystrophy
Conditions we treat
Adult Polyglucosan Body Disease or APBD
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Adult polyglucosan body disease is a very rare, chronically progressive neurological disease characterized by adult onset, sensorimotor or pure motor peripheral neuropathy, upper motor neuron symptoms, neurogenic bladder, and dementia. It is the adult form of glycogen storage disease type IV and is caused by a deficiency of glycogen branching enzyme.
Leukodystrophies (Genetic Diseases of White Matter)
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Leukodystrophies are a group of rare genetic disorders that predominantly affect white matter of the brain and sometimes the peripheral nervous system. The diagnosis of a leukodystrophy is made by a combination of the clinical presentation and the pattern of abnormalities on brain MRI (magnetic resonance imaging).
Lysosomal Storage Diseases
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Lysosomal storage diseases are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomal storage diseases result when the lysosome – a specific organelle in the body's cells – malfunctions.

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Other Metabolic Disorders involving the Nervous System
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  • Sialic Acid Storage Disease
  • Salla Disease
  • Childhood Ataxia with CNS Hypomyelination/Vanishing White Matter Disease (CACH/VWM)

Research

​Dr. Schiffmann has contributed over 220 peer-reviewed articles in national and international publications that have paved the way for increased knowledge of metabolic diseases and the methods used to diagnose and treat them.

Learn more about Dr. Schiffmann's current investigator-initiated studies.

  • LEAP Adult Gaucher A 156-week, two-part, open-label, multicenter, multinational study of the safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of GZ/SAR402671 in combination with Cerezyme in adult patients with Gaucher disease type 3. ClinicalTrials.gov Identifier: NCT02843035
  • MODIFY. A multicenter, double-blind, randomized, placebo controlled, parallel-group study to determine the efficacy and safety of lucerastat oral monotherapy in adult subjects with Fabry disease. ClinicalTrials.gov Identifier: NCT03425539
  • PB-102-F50. A Phase 3, Open Label, Switch Over Study to Assess the Safety, Efficacy and Pharmacokinetics of pegunigalsidase alfa (PRX-102) 2 mg/kg Administered by Intravenous Infusion Every 4 Weeks for 52 weeks in Patients with Fabry Disease Currently Treated with Enzyme Replacement Therapy: Fabrazyme® (agalsidase beta) or Replagal (agalsidase alfa). ClinicalTrials.gov Identifier: NCT03614234
  • F20 Balance Study A Randomized, Double blind, Active Control Study of the Safety and Efficacy of PRX-102 compared to Agalsidase Beta on Renal Function in Patients with Fabry Disease Previously Treated with Agalsidase Beta – Study Number PB-102-F20. ClinicalTrials.gov Identifier: NCT02795676
  • Protocol IRB # 018-706 ‘A One Visit Follow Up of Adults with Fabry Disease who Started Long-term Enzyme Replacement Therapy As Children’. ClinicalTrials.gov Identifier: NCT04002531
  • Protocol 019-376 An Open-Label, Multinational Study of the Efficacy and Safety of Ex Vivo, Lentiviral Vector-mediated Gene Therapy AVR-RD-01 for Treatment-Naïve Subjects with Classic Fabry Disease. ClinicalTrials.gov Identifier: NCT03454893T
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