Have you tested yourself for any of these?

Thalassemia,

Sickle-cell anemia,

Cystic fibrosis,

Tay–Sachs disease,

Hereditary hemochromatosis,

Amyloidosis, Finnish type

Lethal arthrogryposis with anterior horn cell disease

Aspartylglucosaminuria

Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia

Cartilage–hair hypoplasia

Ceroid lipofuscinosis, neuronal, 1

Ceroid lipofuscinosis, neuronal, 3

Ceroid lipofuscinosis, neuronal, 5

Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (Synonyms: Northern epilepsy; Epilepsy, progressive, with mental retardation)

Choroideremia

Cohen syndrome

Cornea plana 2

Diarrhea 1, secretory chloride, congenital

Diastrophic dysplasia

Epilepsy, progressive myoclonic 1A (Unverricht–Lundborg)

Glycine encephalopathy (Nonketotic hyperglycinemia)

GRACILE syndrome

Gyrate atrophy of choroid and retina

Hydrolethalus syndrome 1

Infantile-onset spinocerebellar ataxia (Mitochondrial DNA depletion syndrome 7) Lactase deficiency, congenital

Lethal congenital contracture syndrome 1

Lysinuric protein intolerance

Meckel syndrome

Megaloblastic anemia-1, Finnish and Norwegian type

Mulibrey nanism

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3

Nephrotic syndrome, type 1 (Finnish congenital nephrosis)

Ovarian dysgenesis 1

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (Nasu–Hakola disease)

Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy RAPADILINO syndrome

Retinoschisis 1, X-linked, juvenile

Sialuria, Finnish type (Salla disease)

Tibial muscular dystrophy, tardive

Usher syndrome, type 3A