Kodi mutu wa mwana wanu uli ndi mawonekedwe osazolowereka? Tiyeni tikambirane za Pfeiffer Syndrome

Mawu sangathe kufotokoza chisangalalo chomwe mayi kapena bambo amamva akaona mwana wakhanda. Koma nthawi zina, ndi zachilendo kumva mantha ndi nkhawa zambiri ngati muwona kuti mawonekedwe a mutu wa mwana ndi achilendo pang'ono. Lero tikambirana za vuto losowa lomwe limakukumbutsani mantha otere, koma lingathe kuthetsedwa ngati mukulimvetsa bwino. Izi zimatchedwa Pfeiffer Syndrome. Musachite mantha mukamva dzinali. Tiyeni tikambirane mwachidule, pang'onopang'ono.

Kodi Pfeiffer Syndrome ndi chiyani?

Mwachidule, matenda a Pfeiffer ndi vuto losowa lomwe limachitika pobadwa lomwe limakhudza kukula kwa chigaza cha mwana ndi mafupa a nkhope.

Kuti timvetse izi, choyamba tiyeni tiwone momwe chigaza chathu chimapangidwira. Mwana akabadwa, pamwamba pa mutu wake sipakhala fupa limodzi. Ndi gulu la zidutswa zingapo za mafupa, kapena mbale. Pali zolumikizira zapadera (ma suture) pakati pa mbale za mafupa izi. Izi zilipo kuti chigazacho chikule, kapena kukula, pamene ubongo ukukula. Kawirikawiri, mbale za mafupa izi zimalumikizana pamodzi ndikukhala zolimba mutu ukakula mokwanira.

Komabe, mwana amene ali ndi matenda a Pfeiffer, mafupa omwe ali m'chifuwa amalumikizana mofulumira kwambiri, ubongo usanakule bwino. Taganizirani ngati chomera chomwe chili mumphika waung'ono, ndipo pamene chikukulirakulira, mizu imalowa mkati mwa mphika. Chifukwa ubongo uli ndi malo ochepa oti ukule, mawonekedwe a chifuwa ndi nkhope zimasintha modabwitsa.

Kodi mitundu ya Pfeiffer syndrome ndi iti?

Matenda a Pfeiffer amagawidwa m'magulu atatu akuluakulu. Ngakhale kuti mitundu yonseyi imakhudza maonekedwe a mwana, mitundu yachiwiri ndi yachitatu ndiyo yoopsa kwambiri. Ingayambitse kuchedwa kwa kukula kwa nzeru, mavuto ophunzirira, ndi mavuto ena akuluakulu okhudza ubongo, kuyenda, ndi dongosolo la mitsempha.

Kodi n’chiyani chimayambitsa matenda a Pfeiffer?

Vutoli limayamba chifukwa cha kusintha kwa majini komwe kumayang'anira kukula ndi kufa kwa maselo m'thupi lathu.

Nthawi zina izi zimatha kutengera kwa makolo kupita kwa mwana. Koma nthawi zambiri, makolowo alibe vutoli. Izi zikutanthauza kuti vutoli limayamba chifukwa cha kusintha kwatsopano komwe kumachitika mwangozi (mosayembekezereka) panthawi yomwe majini a mwana akukula. Chifukwa chake, monga kholo, musamadzimve mlandu pa izi.

Kusintha kwa majini kumeneku kumayambitsa kusintha kwa momwe mapuloteni ena amapangira komanso momwe amagwirira ntchito panthawi ya mimba. Zotsatira zake, mapuloteni amenewo amatumiza uthenga wolakwika ku mafupa a chigaza cha mwana kuti "agwirizane mofulumira kwambiri." Izi zimaika mphamvu pa ubongo ndipo zimapangitsa chigaza kusintha mawonekedwe. Nthawi zina, mafupa a zala ndi zala amathanso kugwirizana mofulumira kwambiri.

Kodi zizindikiro zazikulu ndi ziti?

Zizindikiro zimasiyana malinga ndi khanda lililonse ndipo zimatengera mtundu wa matenda. Zizindikirozi zimawonekera makamaka m'mutu ndi pankhope, zala, mafupa, ndi ziwalo zina za thupi.

Mutu ndi nkhope

• Mphuno yayikulu, yosalala yokhala ndi nsonga yokhota pansi
• Maso omwe ali patali kwambiri komanso owonekera
• Mutu waufupi kuyambira kutsogolo kupita kumbuyo
• Pamphumi lalitali kwambiri
• Kuoneka kowala pakati pa nkhope
• Nsagwada yaing'ono kwambiri yapamwamba ndipo motero mano odzaza komanso odzaza

Zala ndi zala za mapazi

• Zala zazifupi
• Zala zazikulu za manja ndi mapazi zomwe ndi zazikulu kuposa zachizolowezi ndipo zimapindika kuchoka pa zala zina za manja
• Mwina zala/zala za m'mapazi zokhala ndi ukonde

Mavuto ena

• Kutaya kumva: Ana opitilira 50% ali ndi vuto la kumva.
• Mavuto a mano: Mavuto okhudzana ndi kukhazikika kwa dzino ndi nsagwada.
• Mavuto pakudya: Makamaka ali mwana.
• Mavuto opuma: Matenda monga sleep apnea, omwe amachititsa kuti kupuma kusiye kwakanthawi panthawi yogona.
• Mavuto a maso: Maso otuluka angayambitse kuuma komanso kulephera kutseka maso kwathunthu.
• Kuchedwa kwa chitukuko ndi kuphunzira (makamaka m'mitundu 2 ndi 3).

Kodi mungazindikire bwanji vutoli?

Dokotala wanu akhoza kuzindikira vutoli panthawi ya mimba pogwiritsa ntchito ultrasound kapena MRI scan. Mwana akabadwa, dokotala nthawi zambiri amatha kudziwa ngati vutoli lilipo poyang'ana khungu la mwana ndi zala zazikulu za mapazi panthawi yomufufuza.

Kuti atsimikizire ngati iyi ndi Pfeiffer syndrome kapena vuto lina, dokotala wanu angakulangizeni mayeso ena angapo.

• Kujambula X-ray kapena CT scan: Onani momwe mafupa a chigaza alili ofanana.
• Kuyezetsa majini: Tengani chitsanzo cha magazi kapena malovu kuti mutsimikizire ngati kusintha kwa majini komwe kumayambitsa izi kulipo.

Kodi mankhwala ake ndi otani?

Chithandizo chomwe mwana amalandira chimadalira mtundu wa matenda ndi zizindikiro zomwe ali nazo. Izi zimafuna thandizo la gulu lalikulu la akatswiri, kuphatikizapo madokotala, madokotala ochita opaleshoni, akatswiri olankhula, ndi akatswiri ochizira matenda . Opaleshoni imagwira ntchito yofunika kwambiri pa chithandizo.

Opaleshoni ya chigaza

Ana ambiri amachitidwa opaleshoni kuti akonze mawonekedwe a chigaza chawo asanakwanitse miyezi 18. Izi zili ndi zolinga ziwiri zazikulu:

1. Kuchepetsa kupanikizika kwa ubongo.

2. Kupatsa ubongo malo ofunikira kuti ukule momasuka.

Pambuyo pa opaleshoni iyi, mudzavala chisoti chapadera kuti chigaza chichiritse bwino.Imaperekedwa kuti igwiritsidwe ntchito. Mungafunike kuchitidwa opaleshoni yotero kawiri kapena kanayi pa moyo wanu wonse.

Opaleshoni ya pakati

Ana ena amafunika opaleshoni kuti akonze mavuto a nsagwada ndikubweretsa mafupa pakati pa nkhope patsogolo. Izi nthawi zambiri zimachitika mwanayo atatha zaka 6 kapena kuposerapo.

Chithandizo cha mavuto a kupuma

Ana ena amavutika kupuma chifukwa cha kutsekeka kwa njira yopumira. Pachifukwa ichi,

• Mudzapemphedwa kuvala chigoba chapadera chotchedwa CPAP (Continuous Positive Airway Pressure) mukamagona.
• Ma tonsils kapena adenoids amachotsedwa opaleshoni.
• Pa milandu yoopsa kwambiri, opaleshoni yotchedwa tracheostomy imachitika, yomwe imaphatikizapo kuboola kabowo kakang'ono pakhosi ndikuyika chubu mwachindunji mu mkodzo kuti munthu azitha kupuma.

Mankhwala ena

Kuonjezera apo, kutengera zosowa za mwana,

• Chithandizo cha mano pa mavuto a mano
• Opaleshoni ya mavuto a chala
• Zipangizo zothandizira kumva kapena opaleshoni ya mavuto a kumva
• Chithandizo cha mavuto a masomphenya
• Chithandizo cha kulankhula kuti chikulitse luso lolankhula ndi chilankhulo
• Zinthu monga chithandizo cha thupi zimafunika kuti munthu azitha kuyenda bwino.

Kodi nthawi ya moyo imakhala bwanji?

Iyi ndi nkhani yovuta kwambiri.

• Ana omwe ali ndi matenda a Type 1 Pfeiffer amatha kuchiritsidwa bwino kwambiri. Amakhala ndi moyo wabwinobwino. Amatha kuphunzira bwino, kusewera bwino, komanso kukhala ndi moyo wodziyimira pawokha.
• Mitundu 2 ndi 3 ndi yovuta kwambiri. Ana awa amakumana ndi mavuto ambiri okhudza kuyenda, kupuma, ndi kugwira ntchito kwa nzeru. Mavuto okhudzana ndi kupuma ndi mitsempha angafupikitse moyo wawo. Komabe, ndi chithandizo chopitilira komanso chithandizo, moyo wawo ukhoza kukhala wabwino.