Kodi Sanfilippo Syndrome ndi chiyani? Monga makolo, tiyeni tidziwe.

Kodi mwaona kuchedwa kulikonse kwa chitukuko kapena machitidwe osazolowereka mwa mwana wanu posachedwapa? Nthawi zina timaganiza kuti izi ndi zinthu zachibadwa zomwe zimachitikira ana akamakula, koma zitha kukhala zizindikiro zoyambirira za matenda osowa otchedwa Sanfilippo Syndrome. Musachite mantha ndi dzinalo. Ndi matenda osowa kwambiri. Koma ndikofunikira kuti makolo adziwe za matendawa. Chifukwa chake, tiyeni tikambirane momveka bwino komanso mosavuta.

Kodi Sanfilippo Syndrome ndi chiyani kwenikweni?

Mwachidule, iyi ndi matenda osowa kwambiri omwe amakhudza kagayidwe kachakudya ka mwana komanso kukula kwa ubongo. Amatchedwanso mucopolysaccharidosis type III.

Taganizirani thupi lathu ngati fakitale yayikulu. Kuti fakitale iyi igwire ntchito bwino, zinthu zina ziyenera kuswedwa, kuswedwa, kutsukidwa, ndikuchotsedwa. Antchito ang'onoang'ono omwe amathandiza pantchitoyi amatchedwa ma enzyme . Mwana yemwe ali ndi matenda a Sanfilippo alibe imodzi mwa ma enzyme ofunikira awa.

Popanda enzyme iyi, molekyulu ya shuga yochokera ku chilengedwe yotchedwa heparan sulfate siisweka bwino ndikuchotsedwa m'thupi. M'malo mwake, imayamba kusonkhana mkati mwa maselo a thupi. Zili ngati zinyalala zomwe sizimatsukidwa. Zinthu zomwe zimasonkhanitsidwazi zimasungidwa m'zigawo mkati mwa maselo otchedwa lysosomes . Ichi ndichifukwa chake matendawa amatchedwanso matenda osungira a lysosomes .

Zinyalala zimenezi zikachulukana, maselo sagwira ntchito bwino. Pakapita nthawi, izi zimatha kuwononga ziwalo, kulepheretsa kukula, kuyambitsa mavuto a khalidwe, komanso kuwononga kwambiri mitsempha.

Matendawa ndi osowa kwambiri. Amakhudza pafupifupi mwana mmodzi pa ana 70,000 obadwa. Ana ambiri omwe ali ndi matendawa amakhala ndi moyo wapakati pa zaka 10 ndi 20. Komabe, ngati wina m'banjamo adadwalapo matendawa, chiopsezo cha mwanayo chimakhala chachikulu.

Kodi pali mitundu yosiyanasiyana ya matendawa?

Inde, pali mitundu inayi ikuluikulu ya matendawa. Pali mitundu inayi ya ma enzyme omwe amathandiza kuswa heparan sulfate yomwe tidakambirana kale. Chifukwa chake, mtundu wa matenda umatsimikiziridwa ndi mtundu uti mwa mitundu inayi ya ma enzyme womwe uli wosowa . Mitundu ina ingakhale yochepa kuposa ina.

Kodi zizindikiro za matendawa ndi ziti?

Zizindikiro zoyambirira nthawi zambiri zimayamba kuonekera pakati pa kubadwa ndi zaka ziwiri. Komabe, nthawi zina makolo sangazindikire, kapena madokotala angaganize kuti ndi matenda ena (monga autism).

Maonekedwe apadera a nsidze

Makolo angazindikire kusintha kwa nkhope mwa ana omwe ali ndi vutoli, makamaka akakhala ndi abale awo. Nsidze zokhuthala komanso zazikulu kuposa zachizolowezi.Chinthu chapadera cha matendawa ndi chakuti nthawi zina nsidze ziwirizi zimalumikizana, zomwe zimapangitsa kuti ziwoneke ngati nsidze imodzi pamphumi. Chizindikirochi chimaonekera kwambiri mwana akamakula.

Kodi mungazindikire bwanji matendawa?

Popeza ndi matenda osowa kwambiri ndipo zizindikiro zoyambirira zimafanana ndi matenda ena, madokotala nthawi zambiri sayesa matendawa akangoyamba kumene. Koma ndikofunikira kwambiri kuzindikira matendawa msanga kuti mwanayo athe kupeza chithandizo ndi chithandizo chomwe akufunikira.

Ngati mwana wanu akuchedwa kukula, zilema zobadwa nazo, komanso zizindikiro zina zoyambirira zomwe takambirana, dokotala wanu angakutumizireni kuti mukayezedwe majini kapena kagayidwe kachakudya.

• Kuyesa mkodzo: Kuyesa koyamba koyenera kuchitika ndi kuyesa mkodzo. Ngati kuchuluka kwa heparan sulfate mu mkodzo wa mwana kwakwera, ndi chizindikiro chakuti mwina pali matenda a Sanfilippo.
• Kuyezetsa magazi: Kuyezetsa magazi kumachitika kuti kutsimikizire matendawa. Izi zimafufuza ngati ntchito ya enzyme yofunikira ndi yochepa.

Kodi mankhwala ake ndi otani?

Mwatsoka, palibe mankhwala a matenda a Sanfilippo, kotero cholinga chachikulu cha madokotala ndikupereka chithandizo chothandizira . Izi zikutanthauza kuti, kuwongolera zizindikiro ndikupatsa mwana moyo wabwino kwambiri kwa nthawi yayitali.

Mankhwala ndi njira zosiyanasiyana zimagwiritsidwa ntchito pa izi:

• Chithandizo cha kulankhula: Kuchedwa kulankhula ndi chizindikiro chofala. Katswiri wothandiza kulankhula amathandiza mwana kulankhula ndi mawu ndi zizindikiro (monga makadi azithunzi).
• Chithandizo cha kudyetsa: Pamene matendawa akupita patsogolo, kutafuna ndi kumeza kumakhala kovuta. Katswiri wothandiza kudyetsa adzapanga njira yothandizira mwanayo kudya bwino.
• Kuchiza thupi: Kuchiza kumeneku kumathandiza mwana kuyenda nthawi yayitali momwe angathere, kukhala wolimba, komanso kukhala ndi thanzi labwino. Ngati pakufunika kutero, kungamuthandizenso kupeza zida monga mpando wa olumala.
• Chithandizo cha ntchito: Chithandizochi chimathandiza kusunga luso loyendetsa bwino thupi, monga kuvala ndi kugwira zoseweretsa, kwa nthawi yayitali momwe zingathere.

Kuphatikiza apo, pali njira zoyesera padziko lonse lapansi, monga Enzyme Replacement Therapy (ERT) ndi Gene Therapy.

Inu, amene mukusamalira mwana, muyeneranso kuganizira za inu nokha.

Kusamalira mwana yemwe ali ndi vuto losowa chonchi ndi udindo waukulu. Ndi kudzimana kwakukulu. Ndizachibadwa kuti mumve kutopa, kupsinjika maganizo, chisoni, komanso kukwiya paulendowu.

Choncho, musaiwale kuganizira za inu nokha komanso mwana wanu.

• Pemphani thandizo kwa munthu amene mumamudalira.
• Pezani nthawi yoti mupumule pang'ono.
• Kambiranani za momwe mukumvera ndi banja lanu kapena dokotala wanu. Ngati kuli kofunikira, funani thandizo kwa mlangizi wa zaumoyo wamaganizo.

Kumbukirani kuti kuti mupatse mwana wanu zabwino kwambiri, choyamba muyenera kukhala bwino .