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Inquiry: Complex Case Study for Research Evaluation – Interaction of Bacterial Reservoir, AAT1 Deficiency, and Hematological Factors

 

 

 

 

Dear Case Coordinator / Research Team,

 

I am writing to submit a complex medical case for potential research inclusion or expert academic consultation. I am a 58-year-old man from Sweden, currently a university student studying remotely. Due to my current situation as a student, I have a limited income, which is why I am specifically looking for research-based programs that can offer independent evaluation and potentially assist with costs related to further investigation.

 

I am seeking an international evaluation due to the unique interaction of multiple rare and chronic factors that have remained inadequately addressed in my home country. I have medical records for this case dating back to 1999, providing a long-term perspective on the progression of these symptoms.

 

Key features of the case include:

 

Chronic Bacterial Reservoir: Recurrent gas-producing activity ("bubbling") in the right ear, suspected to be P. mirabilis.

 

Genetic & Hematological Co-morbidities: * Alpha-1 Antitrypsin Deficiency (AAT1): Heterozygous, presenting a minor deficiency with a level of 0.87 g/L.

 

JAK2-positivity: A small allele burden of 0.10 and 0,11, with elevated Hb/Hct and subnormal EPO.

 

Surgical & Structural Discrepancies: Significant contradictions between CT reports (claiming prior surgery) and actual surgical records, as well as a diagnosed Superior Canal Dehiscence Syndrome (SCDS).

 

Clinical Evidence: Chronic pulmonary pain lasting 23 years, which completely resolved following a targeted 28-day course of Ciprofloxacin in June 2025.

 

Enclosed with this inquiry:

 

Case Summary PDF (Inquiry regarding medical evaluation and research collaboration).

 

Video documentation from Spring 2025 showing the physical "bubbling" activity.

 

Five previous imaging reports (4 CT reports and 1 X-ray report).

 

I am interested in an in-depth clinical study to correlate these findings and explore the systemic interactions (ENT–Pulmonary–Immunology–Genetics). I am also open to discussing research participation, including potential travel for evaluation if my case is of academic interest to your center.

 

Thank you for your time and for the vital work you do for the rare disease community.

 

Sincerely,

Lars Schnell


Lite olika svar ; ena har jullov nu , det andra,  har massor man ska bifoga på engelska av läkare mm.   

13:54 (för 1 timme sedan)
till mig

Det här meddelandet verkar vara på engelska

Dear Lars,

 

Thank you for your interest in the Undiagnosed Diseases Network (UDN) research study. The Network’s goals are to provide answers to participants with mysterious conditions that have long eluded diagnosis. The medical team bases its judgments on whether or not there is a reasonable chance to achieve these goals. Review of each case considers the Network's resources as a whole. More information about the UDN can be found here: https://undiagnosed.hms.harvard.edu. 

 

Individuals from other countries are welcome to submit their case to the UDN. The UDN case submission process for international participants is described below. 

 

If you and your provider decide to submit your case to participate in this study, you will need to answer a series of brief questions through our case submission gateway related to the following:

• Contact information 
• Demographic information 
• Health care provider information (name, address, phone, fax, email)
• Brief medical history questions 
• Previous evaluations
• Travel limitations

 

A study recommendation letter from a health care provider (for example, specialist, primary care physician) is necessary to submit your case to the UDN. The letter must be written in English, addressed to the Undiagnosed Diseases Network(UDN), signed, and on letterhead. A relative cannot write the letter. You will be asked to upload this letter to the online case submission. The study recommendation letter must include:

• A summary of  your  medical problems
• Date when symptoms were first noticed
• Previous diagnoses
• History of evaluations and testing
• History of treatments and medications
• Current medications
• Family history
• Health care provider’s diagnostic impressions
• Prenatal and birth history

 

You will be asked to upload all medical records you have to the online case submission. The medical records must be in English. We will request all the records from the start of the participant’s symptoms, including:

• Specialist consultant notes (such as cardiologist, gastroenterologist, neurologist, geneticist)
• Diagnostic laboratory studies, such as biochemical lab results
• Genetic testing results (full reports)
• Biopsy reports
• Radiology reports 
• Imaging studies, including their reports (MRI, ultrasound, X-rays) which must be obtained from the Radiology department of the hospital where they were performed.
• Admission and discharge summaries from relevant hospitalizations

 

If you do not have all of your medical records now, you may submit your case without them. We will contact you after your case is submitted to request them.

 

A sheet of information for you to share with your provider and a set of example study recommendation letters are attached.

 

Please provide us with a patient narrative telling us your story from your perspective. We will have received the letter from your referring provider, but the narrative may help the UDN understand your medical history directly from you. Sometimes photos help the UDN team better understand the symptoms the participant is experiencing. If you would like to provide a narrative and/or photo, please upload it to the case submission.

 

After a case is submitted, it is sent to one of the UDN clinical sites to review. 

 

After all the requested information is received by a UDN clinical site, it typically takes 6-8+ weeks for the network to decide what evaluation type your case will be assigned to.

 

If you are assigned to an in-person evaluation with the UDN, you will be asked to coordinate and cover expenses for travel to and from the United States, and there may be costs associated with travel and accommodations within the United States as well. There may also be costs associated with clinical tests and procedures. The UDN clinical site handling your case will provide more information about the costs of participating in this study.

 

You can find the case submission Gateway here: https://gateway.undiagnosed.hms.harvard.edu. 

Given that you are an international participant, the following may be additional resources:

Undiagnosed Diseases Network International (UDNI): https://www.udninternational.org

Wilhelm Foundation: https://wilhelmfoundation.org/ email: mikk@wilhelmfoundation.org

 

Please let me know if you have any further questions.

 

Best wishes,

Paul

 

 Medical School

Phone: 

Pronouns: he/him/his