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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 donít hesitate to take this chance to show all the visitors your medical history and photos. Many of the specialists who visit the UDNIís website work all day long to solve the undiagnosed diseases and perhaps one of them find your childís story like one of the doctorís patient. If so, he will become interested and will contact you or your doctor at the UDP. We canít 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.

  • Participant 126

    Participant 126

    She presented in clinic for difficulty with walking and stiff legs. Medical history includes normal pregnancy and birth, and delay in sitting. She never stood until she started physical therapy.

  • Participant 125

    Participant 125

    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 his peers.

  • Participant 124

    Participant 124

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

  • Participant 123

    Participant 123

    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 cardiologist for cardiomegaly and heart failure grade II.

  • Participant 122

    Participant 122

    He presented at age 6 years, with difficulty with walking and frequent falls, as well as difficulty standing from a seated position or lifting things. Also, he cannot keep up with peers when running.

  • Participant 121

    Participant 121

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

  • Participant 120

    Participant 120

    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 slowly.

  • Participant 119

    Participant 119

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

  • Participant 118

    Participant 118

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

  • Participant 117

    Participant 117

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

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