Rare Chromosome Awareness Day, celebrated in June, is an opportunity to increase public knowledge about rare chromosome and gene disorders. These conditions can lead to various physical, developmental and intellectual challenges.
“The day helps bring awareness to the importance of research, early diagnosis, and support for those living with these rare disorders,” Tracy Straub, genetic counselor at WellSpan Evangelical Community Hospital, said. “It is also hoped that increased awareness helps bring organizations, health care professionals and families together to advocate for better resources and foster a sense of community.”
kAm(9:=6 :E’D :>A@CE2?E E@ 3C:?8 2H2C6?6DD E@ C2C6 49C@>@D@>6 5:D@C56CD[ A6@A=6 7:CDE >FDE F?56CDE2?5 H92E E96J 2C6] yF=:2?? $2G2EE[ 2DD:DE2?E AC@76DD@C 😕 E96 s6A2CE>6?E @7 v6?@>:4 w62=E9 2E v6:D:?86C 2?5 4@\5:C64E@C @7 E96 |Jr@56 v6?@>:4 $4C66?:?8 2?5 r@F?D6=:?8 !C@8C2>[ 6IA=2:?D E96 EH@ >@DE 4@>>@? EJA6D @7 E9:D 4@>A=6I 5:D@C56C 2D 7@==@HDi “%96 7:CDE 8C@FA @7 49C@>@D@>6 5:D@C56CD 2C6 42FD65 3J 6IEC2 @C >:DD:?8 ‘H9@=6’ 49C@>@D@>6D 42==65 ‘2?6FA=@:5J]’ %JA:42==J[ H6 92G6 ce 49C@>@D@>6D E92E 4@>6 😕 A2:CD — @?6 7C@> >@> 2?5 @?6 7C@> 525] !6@A=6 2C6 >@DE 72>:=:2C H:E9 2? 6IEC2 a`DE 49C@>@D@>6[ H9:49 42FD6D s@H? $J?5C@>6] x?5:G:5F2=D 42? 2=D@ 92G6 >:DD:?8 @C 6IEC2 ‘A:646D’ @7 2 49C@>@D@>6] %96D6 >:DD:?8 @C 6IEC2 A:646D @7 49C@>@D@>6D 42? D@>6E:>6D 36 A2DD65 E9C@F89 E96 72>:=J[ D@ E96J 2C6 :?96C:E65 7C@> >@> @C 525] ~E96C E:>6D[ E96J @44FC ;FDE 3J 492?46]”k^Am
kAmp44@C5:?8 E@ z2E6 r:@77:[ =:46?D65 46CE:7:65 86?6E:4 4@F?D6=@C 2E &!|r r9:=5C6?’D w@DA:E2= @7 !:EED3FC89[ DE2E:DE:4D 6DE:>2E6 E92E 23@FE _]dT @7 ?6H3@C?D H@C=5H:56 2C6 3@C? H:E9 2 49C@>@D@>2= 2?@>2=J] “%9:D 😀 C@F89=J `g[___ 323:6D 3@C? 😕 E96 &]$] 6249 J62C H:E9 H92E H6 H@F=5 4@?D:56C 2 49C@>@D@>2= 5:776C6?46] %96 24EF2= ?F>36C @7 323:6D 3@C? H:E9 H92E H6 H@F=5 4@?D:56C 2 ‘49C@>@D@>6 5:D@C56C’ 😕 E96 &]$] 😀 =@H6C E92? E92E[ D:?46 H6 H@F=5?’E 6IA64E 2== 49C@>@D@>2= 5:776C6?46D E@ 42FD6 ?@E:4623=6 DJ>AE@>D]”k^Am
kAm$EC2F3 36=:6G6D E96 C2C:EJ @7 49C@>@D@>6 5:D@C56CD 42? >26\4@?DF>:?8[ H:E9 2? 2G6C286 E:>6 @7 c]g J62CD] “%96 4@DED 2DD@4:2E65 H:E9 5:28?@D:D[ EC62E>6?E[ 2?5 42C6 7@C C2C6 5:D62D6D 42? 36 DF3DE2?E:2=] {:G:?8 H:E9 2 C2C6 5:D62D6 42? AC6D6?E D@4:2= 2?5 ADJ49@=@8:42= 492==6?86D 7@C :?5:G:5F2=D 2?5 72>:=:6D]”k^Am
kAm“s:28?@D:?8 C2C6 49C@>@D@>6 2?5 86?6 5:D@C56CD 42? 36 5:77:4F=E 3642FD6 E96J 42? 2AA62C 5C2DE:42==J 5:776C6?E 32D65 @? H9:49 2?5 9@H >2?J 86?6D 2C6 56=6E65 @C 5FA=:42E65[” sC] y@D9F2 ~H6?D[ |65:42= v6?6E:4D 2?5 !65:2EC:4 v6?6E:4D 2?5 v6?@>:4D 2E &!|r r9:=5C6?’D w@DA:E2= @7 !:EED3FC89] “(96? E96C6 2C6 G6CJ =2C86 C68:@?D @7 @FC 49C@>@D@>6D E92E 2C6 6IEC2 @C >:DD:?8[ DF49 2D H:E9 s@H? $J?5C@>6[ H6 @7E6? 7:?5 E96C6 2C6 DF3E=6 92?5D[ 7246[ 766E[ 496DE[ 962CE[ 3C2:? 2?5 @E96C 3@5J A2CED 42? @7E6? D9@H FD :>A@CE2?E 4=F6D E@ DF886DE E96C6 2C6 =2C86 C68:@?D @7 s}p E92E 2C6 6IEC2 @C >:DD:?8[ 2?5 H6 @7E6? 42? 7:?5 DA64:7:4 A2EE6C?D E92E 2C6 F?:BF6 E@ 2 49C@>@D@>2= 5:D@C56C] p 3=@@5 E6DE @C 4966:DD:?8]”k^Am
kAm~H6?D H6?E @? E@ 6IA=2:? E92E 6G6CJ 49C@>@D@>2= 5:D@C56C 😀 5:776C6?E[ 3FE =62C?:?8 E@ C64@8?:K6 :>A@CE2?E A2EE6C?D 96=AD >2@D@>2= 5:D@C56CD E92E 92G6 2 D:8?:7:42?E :>A24E @? @FC 962=E9 H:== ?@E 8@ >:DD65] “&?56CDE2?5:?8 E96D6 A2EE6C?D 2=D@ D9@HD FD 9@H E@ EC62E 2?5 D4C66? 7@C 962=E9 4@>A=:42E:@?D @7 E96D6 C2C6 49C@>@D@>2= 5:D@C56CD]”k^Am
kAm~G6C E96 J62CD[ E649?@=@8J 92D 4@?E:?F65 E@ 6G@=G6[ >2@=64F=2C E649?@=@8:6D 2=D@ 96=A FD 36EE6C F?56CDE2?5 E96 :?EC:424:6D @7 86?6E:4 492?86D >256 52:=J — E96C6 😀 ?@ 6?5 8@2=[” $EC2F3 D2:5] “s}p 😀 D@ 2>2K:?8=J 4@>A=6I 2?5 6G6C\492?8:?8] wF>2? F?56CDE2?5:?8 H:== 4@?E:?F6 E@ 6G@=G6[ 3FE x 5@ ?@E E9:?6 2 E:>6 H96? H6 92G6 :E 4@>A=6E6=J 7:8FC65 @FE]”k^Am
k9cm{@42= 724:=:E:6D E2Dk^9cm
kAm%96 E9C66 9@DA:E2=D 😕 E96 2C62 2C6 :?G@=G65 😕 AC@;64ED E@ F?56CDE2?5 49C@>@D@>6 5:D@C56CD] pE v6:D:?86C |65:42= r6?E6C[ $:>@?D $62C49=:89E 😀 2? @?=:?6 :?E6C?2E:@?2= C6D62C49 AC@8C2> 2:>:?8 E@ 2446=6C2E6 D4:6?46 2?5 :>AC@G6 E96 =:G6D @7 A6@A=6 H:E9 C2C6 86?6E:4 ?6FC@56G6=@A>6?E2= 5:D@C56CD] %96 DEF5J 4@==64ED 52E2 2?5 3=@@5 D2>A=6D[ DJ?E96D:K6D C6DF=ED 7@C 72>:=:6D[ 2?5 D92C6D E96> H:E9@FE :56?E:7J:?8 :?7@C>2E:@? E@ BF2=:7:65 C6D62C496CD 2E ?@ 4@DE]k^Am
kAmv6?@>6r@??64E 😀 A2CE @7 E96 r=:?:42= v6?@>6 #6D@FC46[ 2? }xw\7F?565 AC@;64E E92E 2:>D E@ F?56CDE2?5 E96 4=:?:42= C6=6G2?46 @7 86?6D 2?5 86?6E:4 492?86D WG2C:2?EDX] v6?@>6r@??64E 😀 E96 A2E:6?E 6?8286>6?E A@CE:@? @7 r=:?v6? H96C6 2?J@?6 H9@ 92D 925 86?6E:4 E6DE:?8 7@C 2?J C62D@? 42? D92C6 E96:C 86?6E:4 C6DF=ED 2?5 962=E9 9:DE@CJ]k^Am
kAmv6:D:?86C 92D 2 =@?8DE2?5:?8 3:@32?>F?:EJ w62=E9 x?:E:2E:G6[ H96C6 v6:D:?86C A2E:6?ED 4@?D6?E E@ 962=E9\32D65 C6D62C49 E92E =6G6C286D 6=64EC@?:4 962=E9 C64@C5 52E2 2?5 4@>A=6E6D 86?6E:4 D6BF6?4:?8 @? 2 C6D62C49 32D:D] %96 52E2 86?6C2E65 😕 |Jr@56 6?23=6D E96 9@DA:E2= E@ :?4C62D6 :ED F?56CDE2?5:?8 @7 86?6E:4D 2?5 962=E9 E@ :>AC@G6 A2E:6?E 42C6]k^Am
kAm(:E9:? E96 A2DE 4@FA=6 @7 J62CD[ (6==$A2? tG2?86=:42= =2F?4965 E96 v6?6 w62=E9 !C@;64E] %9:D :?:E:2E:G6 😀 2 4@>>F?:EJ 962=E9 C6D62C49 AC@8C2> E92E :?G6DE:82E6D 86?6E:4 724E@CD E92E >2J :?7=F6?46 2 A6CD@?’D 962=E9] xE 2:>D E@ 96=A :>AC@G6 2446DD E@ A6CD@?2=:K65 962=E9 42C6 2?5 DFAA@CE ?6H C6D62C49 5:D4@G6C:6D 7@C E96 4@>>F?:EJ]k^Am
kAm%96 v6?6 w62=E9 !C@;64E :?G:E6D >6>36CD @7 E96 (6==$A2? 4@>>F?:EJ 7C@> 2== 3242J 56E6C>:?6 E96:C A@E6?E:2= C:D 😀 4FCC6?E=J H@C
kAm%96 &!|r r9:=5C6?’D w@DA:E2= @7 !:EED3FC89 DE277 A6C7@C> 4=:?:42= EC:2=D E@ 6IA=@C6 ?6H >65:42E:@?D 2?5 2AAC@2496D E@ EC62E:?8 5:776C6?E C2C6 49C@>@D@>6 5:D@C56CD] %96 4=:?:42= EC:2=D >2J :?G@=G6 FD:?8 6IEC6>6=J 4FEE:?8\6586 D4:6?46 E@ 4C62E6 86?6 E96C2A:6D E92E 42? 5:C64E=J 7:I E96 F?56C=J:?8 86?6E:4 492?86[ E9@F89 @7E6? 6?@F89[ =6DD 4@>A=6I :?E6CG6?E:@?D =:6@?6’D 5:6E 42? 2=D@ 36 9:89=J 67764E:G6]k^Am