Ebony
Ebony is a 9-year-old girl with global developmental delay. She has particular challenges with spoken language and only has very limited speech …
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.
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: 51
Alina
This 5 year old girl was born with multiple severe medical problems and has required many operations and intensive supportive care. She remains …
Agustin
2 months old developed severe early generalized dystonia, associated with a severe global delay in psychomotor development and hypotonia. Extensive …
Leonardo
Neurological issues with hypertonia in arm & legs and hypotonia in the trunk and aspirates. Developmental delay and cannot sit, roll, walk, talk etc.
Lykke
Bad balance and stiff and clumsy. Sensitive to sounds and smells, frequent vomiting, mode swings. Temperature regulation is impaired. Thin arms and …
Felicia
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
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
Stella received a diagnosis of Bryant-Li-Bhoj neurodevelopmental syndrome 1 (OMIM #619720)
Marc
Arthrogryposis multiplex congenita (multiple contractures) including clubfeet, spina bifida (sacral), congenital hypotonia, congenital scoliosis, …
