El Ciwon Pitt-Hopkins cuta ce mai saurin ɗauka, akwai kusan mutane 50 da aka gano a duniya. A zahiri, ba a san adadin mutane da cutar ta same shi ba, saboda yin gwaje-gwajen bincike yana da tsada sosai, shi ya sa muke magana game da wata cuta da ta shafi duniya ta farko, domin a nan ne aka sami damar tantancewa. Sanadin sanannen shine na kwayar halitta, a maye gurbi de novo wanda ke shafar kwayar halittar TCF4.
Ciwo Pitt-Hopkins cuta ce ta ci gaban ƙasa. Yana da halin ci gaba da raunin hankali, wanda zai iya kaiwa daga matsakaici zuwa mai tsanani. Sauran rikitarwa masu alaƙa da wannan ciwo sune matsalolin numfashi, kamuwa da maimaituwa, farfadiya.
Shin akwai alamun cutar kafin haihuwa na cutar Pitt-Hopkins?
Bayyanar cututtukan Pitt-Hopkins bai fito daga canjin canjin yanayin da ake samu a ɗayan iyayen biyu ba. Lokacin da aka gano cutar Hopkins a cikin yaro dole ne a gwada iyayen duka, yafi don gano gaban mosaicism. Samun damar wannan maye gurbi sake faruwa a cikin wani juna biyu yayi ƙasa sosai. Yiwuwar sake dawowa cikin iyali daya bai wuce 1% ba.
Bayanin haihuwa yana yiwuwa, amma yawanci ana yin sa ne idan ma'auratan sun riga sun sami ɗa mai wannan cutar. Ana yin gwajin haihuwa kafin yin wani chorionic biopsy ko wani amniocentesis. Ana iya yin gwajin farko daga makonni 11 na ciki kuma yawanci yana ba da sakamako mai sauri. Amniocentesis yawanci ana yin shi a makon 16 na ciki.
Kamar yadda yake a yau, gwajin gwaji don DNA na jini a cikin jinin uwa ba ya bari ganewar asali a cikin marasa lafiya tare da yara tare da cutar Pitt-Hopkins da ta gabata.
Menene yara da ke da cutar Pitt-Hopkins?
Gabaɗaya waɗannan yaran suna da kyau farin cikiSuna tausayawa mutane sosai, kodayake suna iya nuna canjin yanayi ba tare da wani dalili ba. Yawancin lokaci yara ne masu motsawa. Suna da ikon fahimta fiye da yadda suke iya bayyanawa. Kuma yawancin yara ba sa iya magana, amma suna amfani da yaren kurame, ko sadarwa ta hanyar hotuna. Shin matsaloli a cikin tsarawa da kuma daidaitawa. Abu ne mai sauki ka gansu "tafa" da hannaye biyu don nuna sha'awar su.
A wasu shafukan da suke magana game da cutar Pitt-Hopkins da suke magana akai fasali na musamman kamar yadda girare na bakin ciki, kananansu kadan kadan, idanuwa masu duhu, sanannen hanci mai dauke da gadon hancin da aka daga, mai lankwasa murfi na leben sama, abin da ake kira bakan Cupid, baki mai fadi da lebba masu kauri, da kuma hakora masu tazara sosai. Kunnuwa yawanci masu kauri ne da kamannin kofi.
Koyaya, akwai wasu yara maza da mata waɗanda suka ba ku da waɗannan siffofin bayyanannun bayyane. Wasu lokuta ba a lura da canje-canjenta a farkon watanni ko shekarun rayuwa. Sauran siffofin da ba na fuska ba sun fi bayyana kamar jinkiri wajen riƙe matsayin zama, juyawa, rarrafe, tafiya ...
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Jiyya a cikin wannan ciwo ya dogara da takamaiman alamun cewa kowane mai haƙuri ya gabatar. Jiki, aiki, magani na jiki, likitocin jijiyoyi, masu warkarwa a magana, insoles, da kuma lalata mutane suna da fa'ida sosai. Yin aikin tiyata na iya taimakawa a magani
Yawancin lokaci akwai hypotonia, wato, ƙarancin ƙwayar tsoka, saboda haka mahimmancin masu warkarwa na zahiri ga waɗannan yara. Wani sauye sauye shine epilepsia da rikicewar numfashi. Dangane da matsayin kamewa, yara suna amsawa da kyau ga daidaitattun jiyya. Rikici na numfashi, wanda yawanci yakan bayyana tsakanin shekaru 5 zuwa 10, wasu lokuta na farko na hauhawar jini tare da wani lokacin na cutar iska. Ga batun maƙarƙashiya na kullum, wanda asalinsa bai bayyana ba, ana ba da shawarar abinci mai yalwar fiber da amfani da kayan shafawa.
Manufar sadaukar da ranar 18 ga Satumba ga cutar Hopkins ita ce tallata wannan cuta da kokarin inganta rayuwar marasa lafiya da danginsu.