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: 49

Abdoulaye is undiagnosed

Abdoulaye

April 5, 2020

At the age 2 years, he had an unspecified illness with diarrhea and fever, which was followed by lower limb weakness. Walking became difficult and …

Makaran is undiagnosed

Makaran

April 4, 2020

At 8 years of age he presented with swelling in both arms and legs, followed by leg weakness causing difficulty walking, and over time by muscle …

Lala is undiagnosed

Lala

April 3, 2020

Since 6 months of age, the parents noticed that she did not react to sound and had blue eyes. Later, it became apparent to them that she doesn't hear.

Adama is undiagnosed

Adama

April 2, 2020

Four years ago, A's relatives noticed abnormal movements of his head, which worsened gradually and later reached the four limbs. This causes falls …

Mery is undiagnosed

Mery

April 1, 2020

Symptoms started 10 years ago (age 11 years) with an episode of fever attributed to malaria, followed by pain in the legs and a gait disorder. …

Amadou is undiagnosed

Amadou

March 31, 2020

Since birth, parents have noticed deformities in hands and toes. These deformities were painless and didn't cause any difficulties with walking. …

Aliou is undiagnosed

Aliou

March 30, 2020

Parents noted that he was not sensitive to burns since about age 2-3 years. He burned himself and broken his legs several times without feeling pain. …

In Memoriam: Calle

In Memoriam: Calle

February 6, 2020

He was born in 2011 and at first he seemed healthy. But after 1.5 days he suddenly became unconscious and very ill. His sodium levels were not normal.

Ebba is undiagnosed

Ebba

February 5, 2020

She was born 2011 with small cerebellum and pons. Delayed motor- and cognitive development, weak muscle tone and ataxia.

Lukas is undiagnosed

Lukas

January 26, 2020

9 year old boy with intractable epilepsy. He can not walk, crawl, speak. He does have different sounds and has involuntary movements of the hands. He …

Sammy is undiagnosed

Sammy

January 12, 2020

He and older brother are compound heterozygous for two variants in SPNS1 (autophagy).

Benjamin is undiagnosed

Benjamin

January 12, 2020

Benjamin and his younger brother are compound heterozygous for two variants in SPNS1 (autophagy).