Uke waphawula noma yikuphi ukubambezeleka kokukhula noma ukuziphatha okungajwayelekile enganeni yakho muva nje? Ngezinye izikhathi sicabanga ngalezi zinto njengezinto ezivamile ezenzeka ezinganeni njengoba zikhula, kodwa zingaba izimpawu zokuqala zesimo esingavamile esibizwa ngokuthi iSanfilippo Syndrome. Ungakhathazeki ngegama. Yisimo esingavamile kakhulu. Kodwa kubalulekile ukuthi abazali baqaphele ngaso. Ngakho-ke, ake sixoxe ngaso ngokucacile nangokulula.
Iyini ngempela i-Sanfilippo Syndrome?
Kalula nje, lesi yisifo esingavamile esithinta i-metabolism yengane kanye nokukhula kobuchopho. Sibizwa nangokuthi i-mucopolysaccharidosis type III.
Cabanga ngemizimba yethu njengefektri enkulu. Ukuze le fektri isebenze kahle, ezinye izinto zidinga ukubhidlizwa, ukubhidlizwa, ukuhlanzwa, nokususwa. Izisebenzi ezincane ezisiza ngalo msebenzi zibizwa ngokuthi ama-enzyme . Ingane ene-Sanfilippo syndrome ayinayo enye yalezi enzyme ezibalulekile.
Ngaphandle kwale enzyme, i-molecule kashukela eyenzeka ngokwemvelo ebizwa ngokuthi i-heparan sulfate ayiqhekeki kahle futhi ikhishwe emzimbeni. Kunalokho, iqala ukuqongelela ngaphakathi kwamaseli omzimba. Kufana nodoti efektri ongahlanzwa. Lokhu okuqongelelwe kugcinwa ezindaweni ezingaphakathi kwamaseli okuthiwa ama-lysosomes . Yingakho lesi sifo sibizwa nangokuthi isifo sokugcina i-lysosomal .
Uma lokhu kungcola kuqoqana, amaseli awakwazi ukusebenza kahle. Ngokuhamba kwesikhathi, lokhu kungalimaza izitho zomzimba, kuphazamise ukukhula, kubangele izinkinga zokuziphatha, futhi kulimaze kakhulu uhlelo lwezinzwa.
Lesi sifo asivamile kakhulu. Sithinta cishe ingane eyodwa kwezingu-70,000 ezizalwayo. Isilinganiso sokuphila kwezingane ezinalesi sifo siphakathi kweminyaka eyi-10 nengu-20. Kodwa-ke, uma othile emndenini eke waba nalesi sifo ngaphambili, ingozi yokuba ingane ithole lesi sifo iphakeme.
Ingabe kunezinhlobo ezahlukene zalesi sifo?
Yebo, kunezinhlobo ezine eziyinhloko zalesi sifo. Kunezinhlobo ezine zama-enzyme ezisiza ekuqhekekeni kwe-heparan sulfate esikhulume ngayo ngaphambili. Ngakho-ke, uhlobo lwesifo lunqunywa ukuthi yiluphi kulezi zinhlobo ezine zama-enzyme olushodayo . Ezinye izinhlobo zingase zibe zimbi kakhulu kunezinye.
| Uhlobo lwesifo | Amaphuzu akhethekile | Isilinganiso sobude bokuphila |
|---|---|---|
| Uhlobo A | Uhlobo oluvame kakhulu nolunzima kakhulu. Izimpawu zivela ngokushesha. Ingane ingase ilahlekelwe ngokushesha ikhono lokuhamba nokukhuluma. | Cishe iminyaka eyi-15. |
| Uhlobo B | Kuncane kancane kunohlobo A. Izimpawu zikhula kancane kancane. | Cishe uneminyaka eyi-19 ubudala. |
| Uhlobo C | Uhlobo olungavamile kakhulu. Izimpawu zikhula kancane. Amakhono anjengokuhamba nokukhuluma ahlala isikhathi eside. | Cishe uneminyaka engama-23 ubudala. |
| Uhlobo D | Uhlobo olungavamile kakhulu. Izimpawu zikhula kancane kakhulu. Kusenemininingwane encane kakhulu ngalokhu. | Akunakwenzeka ukusho ngokuqinisekile. |
Okubalulekile: Lezi zikhathi zokuphila ziyizilinganiso ezimaphakathi kuphela. Ingane ngayinye ihlukile. Ngakho-ke, zingahluka kuye ngesimo sengane ngayinye.
Ziyini izimpawu zalesi sifo?
Izimpawu zokuqala zivame ukuqala ukuvela phakathi kokuzalwa neminyaka emibili ubudala. Kodwa-ke, ngezinye izikhathi abazali bangase bangaziboni, noma ngisho nodokotela bangase baziphambanise nezinye izimo (isib. i-autism).
| Uhlobo oluyisici | Izimpawu ezivame ukubonakala |
|---|---|
| Izimpawu Zokuqala | |
| Ukukhula nokuziphatha | Ukuphuza ukukhuluma nezinye izigaba zokukhula, ukuziphatha okufana ne-autism, ukusebenza ngokweqile, ukutheleleka njalo kwendlebe kanye ne-sinus, izinkinga zokulala (ukungalali/ukuvuka). |
| Izici zomzimba | Ukubukeka okuxekethile kobuso (ibunzi namashiya avelele, izindebe ezigcwele kanye nekhala), ukukhula ngokweqile kwezinwele zomzimba (i-hirsutism), ikhanda elikhulu kunejwayelekile (i-macrocephaly), kanye ne-umbilical hernia. |
| Okunye | Ukuminyana okuqhubekayo kwendlela yokuphefumula ephezulu, uhudo oluqhubekayo. |
| Izimpawu Zokufika Sekwephuzile | |
| Amakhono anciphile | Ukwehla kwekhono lokufunda, ukucabanga, nokwenza imisebenzi, kanye nokulahlekelwa ikhono lokuhamba, ukukhuluma, ukudla, nokuzwa ngokuhamba kwesikhathi. |
| Izinguquko zomzimba | Izici zobuso ziyacaca kakhulu, amalunga aqinile , izicubu zobuchopho ziyancipha (ukuncipha kobuchopho), ukuxhuzula, kanye nokukhula kwesibindi noma ubende. |
| Ukuziphatha | Izinkinga zokuziphatha, ukusebenza ngokweqile, kanye nokungacabangi kahle kuya ngokuya kuba kubi kakhulu. |
Ukubukeka okukhethekile kwamashiya
Abazali bangase babone izinguquko zobuso ezinganeni ezinalesi simo, ikakhulukazi uma zinabafowabo nodadewabo. Amashiya amakhulu futhi aqinile kunokuvamile.Isici esikhethekile salesi sifo ukuthi ngezinye izikhathi lezi zinkophe ezimbili ziyahlanganiswa, okwenza zibukeke njengenkophe eyodwa ebunzini. Lesi sici sigqama kakhulu njengoba ingane ikhula.
Ungasithola kanjani lesi sifo?
Ngenxa yokuthi yisifo esingavamile futhi izimpawu zokuqala zifana nezinye izifo, odokotela bavame ukungasihloli ezigabeni zaso zokuqala. Kodwa kubaluleke kakhulu ukuxilonga lesi sifo kusenesikhathi ukuze ingane ithole ukwesekwa nokwelashwa ekudingayo.
Uma ingane yakho inesikhathi sokukhula okulibazisekayo, ukukhubazeka kokuzalwa, kanye nezinye zezimpawu zokuqala esixoxe ngazo, udokotela wakho angakuthumela ukuthi uyohlolwa izakhi zofuzo noma ukwakheka komzimba.
- Ukuhlolwa komchamo: Ukuhlolwa kokuqala okufanele kwenziwe ukuhlolwa komchamo. Uma izinga le-heparan sulfate emchameni wengane liphakeme, kuyisibonakaliso sokuthi kungenzeka ukuthi kukhona i-Sanfilippo syndrome.
- Ukuhlolwa kwegazi: Kwenziwa ukuhlolwa kwegazi ukuqinisekisa isifo. Lokhu kuhlola ukuthi umsebenzi we-enzyme efanele uphansi yini.
Uma unenkinga mayelana nokukhula noma ukuziphatha kwengane yakho, ungalokothi wesabe futhi wenze izinqumo ngokwakho. Into engcono kakhulu ongayenza ukukhuluma nodokotela wezingane ngalokhu.
Yiziphi izindlela zokwelapha?
Ngeshwa, ayikho ikhambi le-Sanfilippo syndrome, ngakho-ke umgomo oyinhloko wodokotela ukunikeza ukunakekelwa okusekelayo . Okusho ukuthi, ukulawula izimpawu nokunikeza ingane impilo engcono kakhulu isikhathi eside ngangokunokwenzeka.
Kusetshenziswa izindlela ezahlukene zokwelapha kanye nokwelapha kulokhu:
- Ukwelashwa ngolimi lokukhuluma: Ukubambezeleka kwenkulumo kuyisibonakaliso esivamile. Uchwepheshe wezokwelapha ngenkulumo usiza ingane ukuthi ixhumane ngamazwi nezinkomba (isib. amakhadi ezithombe).
- Ukwelashwa ngokudla: Njengoba lesi sifo siqhubeka, ukuhlafuna nokugwinya kuba nzima. Udokotela wezokwelapha uzokwakha indlela yokusiza ingane ukuba idle ngokuphephile.
- Ukwelashwa ngokomzimba: Lokhu kwelashwa kusiza ingane ukuthi ihambe isikhathi eside ngangokunokwenzeka, ihlale iqinile, futhi ilondoloze ibhalansi. Uma kudingeka, kungayisiza futhi ukuthi ithole imishini efana nesihlalo sabakhubazekile.
- Ukwelashwa Komsebenzi: Lokhu kwelashwa kusiza ukugcina amakhono okunyakaza kahle, njengokugqoka nokubamba amathoyizi, isikhathi eside ngangokunokwenzeka.
Ngaphezu kwalokho, kunezindlela zokwelapha ezisetshenziswayo emhlabeni, njenge-Enzyme Replacement Therapy (ERT) kanye ne-Gene Therapy.
Wena, onakekela ingane, kufanele uzicabangele nawe.
Ukunakekela ingane enesifo esingavamile kangaka kuwumthwalo wemfanelo omkhulu. Futhi kuwukuzidela okukhulu. Kujwayelekile kakhulu ukuthi uzizwe ucindezelekile, udabukile futhi uthukuthele phakathi nalolu hambo.
Akudingeki ukuthi udlule kulolu hambo wedwa. Ngokusekelwa kanye nokwaziswa okufanele, unganikeza ingane yakho ukunakekelwa okungcono kakhulu.
Ngakho-ke, ungakhohlwa ukucabanga ngawe kanye nengane yakho.
- Cela usizo kumuntu omethembayo.
- Zinike isikhathi sokuthatha ikhefu elincane.
- Khuluma ngemizwa yakho nomndeni wakho noma nodokotela wakho. Uma kudingeka, funa usizo kumeluleki wezempilo yengqondo.
Khumbula ukuthi ukuze unike ingane yakho okungcono kakhulu, udinga kuqala ukuba ngcono .
Umlayezo Wokuya Nawe Ekhaya
- I-Sanfilippo Syndrome yisifo esingavamile esithinta inqubo yokukhipha udoti emzimbeni.
- Izimpawu zokuqala zifaka phakathi ukubambezeleka kokukhula, ubunzima bokukhuluma, ukusebenza ngokweqile, kanye nezici zobuso ezihlukile.
- Nakuba kungekho ukwelashwa okuqondile kwalesi sifo, izindlela ezahlukene zokwelapha zingalawula izimpawu futhi zinikeze ingane impilo enhle.
- Uma unokungabaza ngokukhula kwengane yakho, thintana nodokotela wezingane ngokushesha ukuze uthole iseluleko.
- Njengoba ukunakekela ingane enjengale kuyinselele, kubaluleke kakhulu ukuthi wena njengomzali unakekele impilo yakho engokomzimba nengokwengqondo.
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