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

Lykke is undiagnosed

Lykke

July 6, 2021

Bad balance and stiff and clumsy. Sensitive to sounds and smells, frequent vomiting, mode swings. Temperature regulation is impaired. Thin arms and …

Felicia is undiagnosed

Felicia

May 12, 2021

Grave developmental disorder (mental level equivalent to about a 1-year-old level. Soft limbs, cannot stand up or move without aiding devices. She …

Edwin is Undiagnosed

Edwin

April 9, 2021

Spasms in arms and legs, is very stiff. Involentary movements, he can not sit or move. He is having difficult to grip things, harder with the left …

Stella is Undiagnosed

Stella

April 8, 2021

Born premature week 35 with duodenal atresia and urinary reflux. She has major development delays, intellectual (learning, communication, speech, …

Astor is Undiagnosed

Astor

February 13, 2021

Tracheomalacia, have had mucus plugs in the lungs. Bilateral retentio testis. Inguinal hernia. Atrial septal defect (membrane in the left atrium). …

Ned is undiagnosed

Ned

July 5, 2020

Hirschsprung disease, microcephaly, intellectual disability, speech delay, behavioral issues, sensory and self regulation issues, low tone, poor …

Marc is undiagnosed

Marc

July 4, 2020

Arthrogryposis multiplex congenita (multiple contractures) including clubfeet, spina bifida (sacral), congenital hypotonia, congenital scoliosis, …

Jinn is undiagnosed

Jinn

July 3, 2020

Mild intellectual disability

Fenna is undiagnosed

Fenna

July 2, 2020

Developmental delays. There is still no explanation for the developmental delays, and whether or not the different types of delays are connected. For …

Dex is undiagnosed

Dex

July 1, 2020

Developmental delay, autism spectrum disorder

Jonne is undiagnosed

Jonne

May 1, 2020

Developmental delay of unknown cause

Maudy is undiagnosed

Maudy

April 30, 2020

Intellectual disability, weakness of neck flexors and distal flexors of fingers. Neuromuscular disease, problems regulating muscle tone. Most likely …