Patients area

The UDNI together with the Wilhelm Foundation will offer undiagnosed patients (adults and children), who have been evaluated at an UDP and still are undiagnosed to share your story.

This is a tiny opportunity to a diagnosis. But if you still are undiagnosed don’t hesitate to take this chance to show all the visitors your medical history and photos. Many of the specialists who visit the UDNI’s website work all day long to solve the undiagnosed diseases and perhaps one of them find your child’s story like one of the doctor’s patient. If so, he will become interested and will contact you or your doctor at the UDP. We can’t promise anything, but this is a new chance to a diagnosis.

This area is under the Wilhelm Foundation responsibility. In this section Wilhelm Foundation will collect some information (phenotypic, genotypic, picture) from undiagnosed rare patients.
For this purpose a dedicated ethics-Informed Assent as well as a UDNI Parental Consent were developed and apporved during the 6th Conference of Undiagnosed Diseases Network International (19-21 June 2018, Naples) by all UDNI Board Members and participants. Before adding information on a patient these consents have to be download and signed by the Responsibles of patient.

Patients must have undergone a specific visit in a dedicated undiagnosed clinical site before being added in the present section.


Results: 50

Djeneba is Undignosed

Djeneba

April 18, 2020

She presented in clinic for difficulty with walking and stiff legs. Medical history includes normal pregnancy and birth, and delay in sitting. She …

Meridié is undiagnosed

Meridié

April 17, 2020

He presented at age 2 years with problems with walking. These included a waddling gait and a right sided limp, such that he could no longer run with …

Bakary is undiagnosed

Bakary

April 16, 2020

He presented at around age 14 years with frequent falls when walking and difficulty with running, which led him to stop playing sports.

Asmao is undiagnosed

Asmao

April 15, 2020

She was referred by her cardiologist because of her tall stature and some finger deformity. She had eye surgery in childhood and was seen by a …

Abdramane is undiagnosed

Abdramane

April 14, 2020

He presented at age 6 years, with difficulty with walking and frequent falls, as well as difficulty standing from a seated position or lifting …

Mahamadou

Mahamadou

April 13, 2020

At age 18 months, parents noticed that he fell frequently when walking. Later, he had difficulty standing up, and recently also lifting heavy objects.

Abdoulaye is undiagnosed

Abdoulaye

April 12, 2020

Symptoms started around 1 year of age when parents noticed that the patient was walking on his toes. Gait was abnormal, and has was able to run only …

Simbo is undiagnosed

Simbo

April 11, 2020

Symptoms started at 2 days of age, and were characterized by tonic-clonic seizures and respiratory distress requiring hospitalization.

Sinaly is undiagnosed

Sinaly

April 10, 2020

Symptoms started at 3 days of age, with respiratory distress requiring hospitalization for 9 days, followed a month later by seizures with eye …

Mamadou is undiagnosed

Mamadou

April 9, 2020

Symptoms started at age 7 years, in the form of tremors of the extremities when trying to pick up objects.

Maïmouna is undiagnosed

Maïmouna

April 8, 2020

Symptoms started at 7 years of age in the form of hand tremors when trying to pick up objects. Around age 10, parents reported progressive worsening …

Ousmane is undiagnosed

Ousmane

April 7, 2020

He was born from a consanguineous marriage and referred to us for familial myoclonic epilepsy. Delivery was difficult and at birth he did not cry. …