The story of Duska
Bor in delecija 8p23.1
Borova diagnoza je v svetu tako redka, da tudi sindrom nima drugega imena kot motnja kromosoma 8p, največkrat gre za delecijo/duplikacijo/inverzijo na kromosomu 8p. Naš Bor ima ugotovljeno delecijo 8p23.1. Pri njemu se to kaže kot celostni razvojni zaostanek z zmerno do težjo motnjo v duševnem razvoju, ugotovljeno motnjo avtističnega spektra, epilepsijo, slabšo koordinacijo in ravnotežjem, okrnjeno fino motoriko, vedenjskimi težavami, senzorno preobčutljivostjo in še marsikaj, zaradi česar bo vse življenje potrebval našo podporo in vodenje odrasle osebe. Nekateri otroci rojeni s to gensko napako lahko imajo tudi prirojeno srčno napako, kar se zgodi v primeru, ko v genetskem materialu ni gena GATA4. V svetu je okoli 350 znanih primerov genske napake INV/DEL/DUP kromosoma 8p, v Sloveniji pa so skupaj z našim Borom znani trije primeri.
Bor ali Borči, kot ga velikokrat vsi ljubkovalno kličemo je naš vir ljubezni. Zaradi svoje čistosti, prisrčnosti in iskrenosti je njegov objem, poljub ali pogled nekaj kar nam nemudoma pogreje srce in prikliče nasmeh. Bor bo kmalu star 12 let in obiskuje šolo za otroke s posebnimi potrebami. Je zelo živahen fant, ki ima zelo rad svojega starejšega brata, saj je prav on eden redkih, če ne edini otrok, ki ve in razume kako se z njim igrati. Kot mami mi ju je najlepše opazovati kadar skupaj pojeta in se zabavata na njun način. Bor že od nekdaj obožuje krave in vse kar je povzanao s kmetijo, zato je ob nedeljah, ko obišče stričevo kmetijo, še posebej srečen. Neizmerno ga imamo radi. Je velik ljubitelj risank, knjig in pravljic. Mnoge od njih že zna na pamet. Predvsem zato, ker že leta in leta spremljamo iste. Obisk knjižnice je prav tako ena njegovih najljubših aktivnosti in knjižničarke ga že zelo dobro poznajo. Zelo rad obišče tudi svoji babici in dedka. Bor ne mara hudega mraza, niti močnega vetra. Ne mara gužve in hrupa. V novem okolju mu je ljubše, če se premika v vozičku. Ko pa je vreme toplo pa uživa v vožnji s kolesom čez mesto, kratkih sprehodih z našim kužkom in čofotanjem v vodi.
Ker nas je v svetu tako malo, smo se tudi mi začeli povezovati s s starši in družinami, ki delijo enako ali podobno usodo. Po celem svetu smo razpršeni. Povezujemo pa se tudi pod okriljem fundacije Project 8p iz ZDA, ki jo je pred leti ustanovila mamica deklice, ki ima prav tako gensko napako na 8p kromosomu. Poslanstvo fundacije Project 8p je opolnomočiti enotno skupnost za smiselno življenje 8p junakov danes, hkrati pa pospešiti zdravljenje za jutri. Več o fundaciji lahko preberete tukaj: www.project8p.org.
Ob neki priložnosti sem kot mama otroka z redko boleznijo izjavila:
»Biti starš otroku s tako redko boleznijo je včasih zelo osamljena pot. Odrekanja, prilagajanja, vsakodnevni izzivi in spremembe so naša stalnica … Povezovanje z drugimi in širjenje zavedanja o redkih boleznih pa nam daje vedeti, da nismo sami.«
Bor and 8p23.1 deletion
Bor’s diagnosis is so rare in the world that the syndrome has no other name than chromosome 8p disorder, most often it is a deletion/duplication/inversion on chromosome 8p. Our Bor was diagnosed with 8p23.1 deletion. In his case, this manifests as an overall developmental delay with moderate to severe intellectual disability, diagnosed autism spectrum disorder, epilepsy, poor coordination and balance, impaired fine motor skills, behavioral problems, sensory hypersensitivity and much more, which will require his lifelong care and adult support and guidance. Some children born with this genetic defect may also have a congenital heart defect, which occurs when there is no GATA4 gene in the genetic material. There are around 350 known cases of the genetic defect INV/DEL/DUP of chromosome 8p in the world, and in Slovenia, together with our Bor, there are three known cases.
Bor or Borči, as we all affectionately call him, is our source of love. Because of his purity, friendliness and sincerity, his hug, kiss or look is something that immediately warms our heart and brings a smile. Bor will soon be 12 years old and attends a school for children with special needs. He is a very lively boy who loves his older brother very much, because he is one of the few, if not the only, child who knows and understands how to play with him. As a mother, the best thing for me is to watch them sing together and have fun in their own way. Bor has always loved cows and everything related to the farm, so he is especially happy on Sundays when he visits his uncle’s farm. We love him immensely. He is a big fan of cartoons, books and fairy tales. He already knows many of them by heart. Mainly because we have been following the same for years and years. Visiting the library is also one of his favorite activities and the librarians already know him very well. He also likes to visit his grandmother and grandfather very much. Bor does not like severe cold or strong wind. He doesn’t like crowds and noise. In a new environment, he prefers to move around in a stroller. But when the weather is warm, he enjoys riding with bike across town, taking short walks with our dog and splashing in the water.
Since there are so few of us in the world, we too have begun to connect with parents and families who share the same or similar fate. We are spread all over the world. We also connect under the auspices of the Project 8p foundation from the USA, which was founded few years ago by the mother of a girl who also has a genetic defect on the 8p chromosome. The mission of the Project 8p Foundation is to empower a unified community for meaningful lives of 8p heroes today, while accelerating healing for tomorrow. You can read more about the foundation here: www.project8p.org.
On one occasion, as the mother of a child with a rare disease, I stated:
“Being a parent of a child with such a rare disease is sometimes a very lonely journey. Renunciations, adaptations, daily challenges and changes are our constant… Connecting with others and spreading awareness about rare diseases lets us know that we are not alone.”