E kamaʻilio kākou e pili ana i ka Familial Dysautonomia: He maʻi ʻōnaehana nerve i hoʻoilina ʻia!

Ua lohe paha ʻoe e hana koke ana kekahi mau mea i loko o ko kākou kino, me ka ʻike ʻole ʻia e kākou? E noʻonoʻo e pili ana i ia mea, ka hanu ʻana, ka ʻai ʻana i ka meaʻai, ka hoʻoponopono ʻana i ka mahana o ko kākou kino, ka lawaiʻa ʻana, ka uē ʻana... Hana koke kēia mau mea a pau i loko o ko kākou kino, ʻo ia hoʻi, me ka noʻonoʻo ʻole ʻana iā lākou. Akā, he aha ka mea e hana ai inā he nāwaliwali a pilikia paha i loko o kā kākou ʻōnaehana nerve , ka mea e hoʻomalu nei i kēia mau mea hana koke? I kēia lā, e kamaʻilio kākou e pili ana i kahi maʻi hānau kakaʻikahi, akā koʻikoʻi loa. Ua kapa ʻia kēia ʻo Familial Dysautonomia (FD) .

He aha ka Familial Dysautonomia?

I ka ʻōlelo maʻalahi, ʻo ka familial dysautonomia (FD) kahi maʻi hānau e hoʻopilikia i kāu ʻōnaehana nerve. Hoʻopilikia nui ia i nā ʻāpana o kou kino e kaohi ana i nā kaʻina hana aunoa . ʻO ia hoʻi:

• Ka hanu ʻana
• ʻO ka hoʻoheheʻe ʻana
• Nā waimaka e hana ana
• Ke hoʻoponopono ʻana i ke koko a me ka mahana o ke kino
• Ka hoʻokumu ʻia ʻana o ka lawai

Ma waho aʻe o kēia, hoʻopilikia pū ia i kāu ʻōnaehana nerve koʻikoʻi . ʻO ia hoʻi:

• ʻOno
• Ka ʻike i ka ʻeha a me ka mahana

Hoʻokumu ʻia kēia kūlana e kahi hoʻololi gene i hoʻoilina ʻia mai nā mākua. ʻO kēia kūlana, i kapa ʻia ʻo Familial Dysautonomia, ua ʻike ʻia hoʻi ʻo:

• ʻO ka maʻi Riley-Day
• ʻO ka neuropathy sensory a me ka autonomic hoʻoilina ʻano III HSAN (ʻAno III hereditary sensory a me ka autonomic neuropathy - HSAN ʻano III)

ʻO ka mea kaumaha, hiki i kēia ʻano dysautonomia familial ke hoʻoulu i ka lohi o ka ulu ʻana i nā keiki a hiki ke hoʻopōkole i ko lākou ola.

ʻO wai ka mea i ʻoi aku ka paʻakikī o ka loaʻa ʻana o kēia maʻi?

Pono ke keiki i ka Familial Dysautonomia e hoʻoilina i kahi gene kīnā mai nā mākua ʻelua . He kūlana kakaikahi loa kēia. He mea maʻamau ia i waena o ka poʻe o ka hanauna Iudaio Ashkenazi . Ua hōʻike ʻia ma kahi o hoʻokahi i loko o 10,000 mau Iudaio Ashkenazi ma ʻAmelika Hui Pū ʻIa a ma kahi o hoʻokahi i loko o 3,700 ma ʻIseraʻela i hānau ʻia me ke kūlana. ʻO ke ʻano kēia, ʻaʻole ia he maʻi e hoʻopilikia i nā mea āpau.

He aha ke kumu o kēia?

ʻO kēia ma muli o nā mutations i loko o nā genes . Pono nā mākua ʻelua e lawe i kahi mutation i loko o kahi gene i kapa ʻia ʻo ELP1 . Hana kēia gene ELP1 i kahi protein e kōkua i ka ulu ʻana o kāu ʻōnaehana nerve. No laila, inā he mutation, a hemahema paha, i loko o kēia gene, loaʻa nā pilikia i ka hana ʻana o nā ʻāpana o ka ʻōnaehana nerve. I ka ʻōlelo maʻalahi, inā nalowale kekahi ʻāpana lako koʻikoʻi i ka wā e kūkulu ana i hale, e hiolo ka hale holoʻokoʻa.

He aha nā hōʻailona o ka Familial Dysautonomia (FD)?

Hoʻomaka nā hōʻailona o kēia maʻi i ka wā kamaliʻi . ʻO nā hōʻailona mua e komo pū ana:

• Paʻakikī omo: He mea paʻakikī i kahi pēpē liʻiliʻi ke omo pono.
• Paʻakikī i ka moni ʻana (dysphagia): Paʻakikī i ka moni ʻana i ka meaʻai a me ka mea inu, me he mea lā e ʻū ana.
• ʻAʻole hiki ke mālama i ka mahana o ke kino: Hiki ke piʻi a emi koke paha ka mahana o ke kino.
• ʻAʻohe waimaka i ka wā e uē ana: He hōʻailona kūikawā loa kēia. ʻAʻole kahe ka waimaka o kahi keiki liʻiliʻi i ka wā e uē ai.
• Ka ulu maikaʻi ʻole: ʻAʻole e piʻi ka kaumaha a me ke kiʻekiʻe o ka pēpē e like me ko lākou mau makahiki.
• Nāwaliwali o nā ʻiʻo (hypotonia): Manaʻo ke kino he palupalu a palupalu hoʻi.

I ka wā e ulu aʻe ai ke keiki, hiki iā lākou ke hoʻopaʻa i ko lākou hanu i kekahi manawa, me he mea lā e ʻū ana lākou. Akā, nalo pinepine kēia paʻa ʻana o ka hanu i ka piha ʻana o nā makahiki 6.

I ka holomua ʻana o ka maʻi, hiki ke ʻike ʻia nā hōʻailona ʻē aʻe:

• Nā ʻano ʻino o ka puʻuwai (arrhythmia): Lilo ka helu o ka puʻuwai i mea ʻano ʻole.
• Nā ʻano ʻono ʻē: ʻAʻole paha ʻoe e hiki ke ʻono pono i ka meaʻai.
• Ke kūlou ʻano ʻē o ka iwi kuamoʻo (scoliosis): Me he mea lā ua kūlou ka iwi kuamoʻo i kekahi ʻaoʻao.
• Nā pilikia kaulike a me nā maʻi hele wāwae: Paʻakikī i ka hele wāwae, pilikia o ka hāʻule ʻana.
• Ka pulu ʻana i ka moena: Ka pulu ʻana i ka moena i ka pō i ka wā e hiamoe ana.
• ʻO ka reflux waikawa mau loa (GERD): ʻO ka puʻuwai pinepine a me ka manaʻo o ka puʻuwai e piʻi ana i ka puʻu.
• Nā lohi o ka ulu ʻana: Ua lohi nā mea e like me ke kamaʻilio ʻana a me ka hele wāwae.
• Ka nui o ka salivation.
• Nā pilikia maka: nā mea e like me nā maka maloʻo, strabismus.
• ʻAʻole hiki ke ʻike i ka ʻeha a me nā loli o ka mahana: ʻAʻole i ʻike pono ʻia ka wela, ke anu, nā ʻoki, a me nā ʻeha.
• Ka hemahema o ka ʻike a me ka nalowale o ka ʻike.
• Nā maʻi akemāmā: Loaʻa pinepine nā maʻi ma muli o ka hōʻiliʻili ʻana o ka mucus i loko o nā akemāmā.
• Ka nāwaliwali o nā iwi (osteoporosis) a me ka hoʻonui ʻia o ka pilikia o nā haki.
• Nāwaliwali i ka kaohi ʻana i ka hanu ʻana, ʻoiai i ka wā hiamoe.
• Nā kūlana hopu e like me ka epilepsy.
• Ka luaʻi ʻana.

He nui ka poʻe me ka familial dysautonomia e pilikia ana i ka kaohi ʻana i ko lākou koko . Hiki i kēia ke hana i ke koko haʻahaʻa i ke kū ʻana (orthostatic hypotension), hiki ke hana i ka poniuniu a me ka māʻule. Hiki i ke koko kiʻekiʻe (hypertension) ke alakaʻi i ka maʻi puʻupaʻa.

Ma kahi o 40% o ka poʻe me kēia maʻi e ʻike i nā wā i kapa ʻia ʻo "autonomic crises" ke ʻoi koke ka ʻino o nā hōʻailona. I loko o kēia mau manawa, hiki ke hana ʻia kēia mau mea:

• Kuni.
• Nā palpitations o ka puʻuwai.
• Ke koko kiʻekiʻe.
• ʻUlaʻula o ka ʻili.
• Ke hou nei.
• Ka luaʻi ʻana.

E noʻonoʻo i ka paʻakikī o ke keiki liʻiliʻi e loaʻa i kēia mau ʻano pilikia i nā manawa a pau. He mea paʻakikī hoʻi i nā mākua ke hoʻomanawanui i kēia. Akā, aia nā hopena no kēia mau mea a pau e like me ke aʻo ʻana a ke kauka.

Pehea e ʻike ʻia ai ka Familial Dysautonomia (FD)?

E nīnau mua kāu kauka iā ʻoe e pili ana i kāu mau hōʻailona a laila e hana i kahi hoʻokolokolo kino .

ʻO ka mea nui e ʻike inā e puka mai nā waimaka ke uē ʻoe. No nā pēpē ma lalo o 6 mahina, hana ʻia kahi hoʻāʻo i kapa ʻia ʻo ka hoʻāʻo Schirmer :

• ʻO kāu e hana ai, ʻo ke kau ʻana i kahi ʻāpana pepa kānana liʻiliʻi ma loko o ka lihilihi o lalo o ka pēpē.
• Inā ma hope o ʻelima mau minuke, ʻoi aku ka liʻiliʻi o ka nui o ka makū i loko o ka lau ma mua o 10 milliliters, manaʻo ʻia he familial dysautonomia paha ka pēpē.

Eia kekahi, e nānā pū ke kauka i kēia mau mea:

• Hoʻemi ʻia nā reflexes tendon: Inā loaʻa iā ʻoe ka FD, ʻaʻole e pane kou mau ʻiʻo ke paʻi māmā ke kauka iā lākou.
• Ka hopena i ka inikini histamine: Ke loaʻa i kahi kanaka me FD kēia inikini, ʻaʻole e ʻulaʻula a pehu ka ʻili e like me ke kanaka maʻamau.
• Pane i ka methacholine: Ma kahi o 20 mau minuke ma hope o ka hoʻopili ʻana i kēia lāʻau lapaʻau, e emi ana ka haumāna o ka maka inā loaʻa ka FD.
• ʻAno laumania ke ʻano o ke alelo: Inā loaʻa iā ʻoe ka FD, e ʻike ʻia kou alelo he laumania no ka mea ua nalowale nā ​​​​ʻono ʻono (fungiform papillae) aia ma ke kikowaena hope o kou alelo.

Inā ʻike ʻoe i kēia mau hōʻailona, ​​​​​​e kuhikuhi paha kāu kauka i ka hoʻāʻo genetic , ʻo ia hoʻi ka lawe ʻana i kahi hāpana koko a me ka nānā ʻana i ka mutation genetic e hoʻoulu ai i ka dysautonomia familial.

He aha nā lāʻau lapaʻau no ka Familial Dysautonomia (FD)?

ʻO ke kumu nui o ka mālama ʻana no FD ka hōʻemi ʻana i nā hōʻailona . Aia nā ʻano lapaʻau like ʻole i loaʻa no kēia:

• No nā maʻi o ka māmā: Nā lāʻau antibiotic a i ʻole physiotherapy umauma.
• No ka hypotension orthostatic: Nā kāʻei compression a i ʻole kahi pacemaker mau loa.
• No nā pilikia hanu i ka wā hiamoe: Nā mea hana e like me CPAP a i ʻole BiPAP® (Bilevel Positive Airway Pressure).
• No ka pale ʻana i ka cornea o nā maka: Nā kulu maka.
• No ka make wai ma muli o ka luaʻi ʻana: E hāʻawi i ka saline intravenous (nā wai IV).
• No GERD, maʻi puʻupaʻa, hana lawaiʻa, maʻi epilepsy, a i ʻole ka luaʻi ʻana: nā ʻano lāʻau like ʻole.
• I mea e maʻalahi ai nā hana o kēlā me kēia lā: Ka hoʻoponopono hana.
• No ka hoʻomaikaʻi ʻana i ke kaulike: Hoʻōla kino.
• No nā pilikia kua: ʻoki kino.
• No ka hoʻonui ʻana i ka meaʻai: Ke hāʻawi ʻana i ka hānai ʻana i loko o ka paipu (nutrition enteral).

I kēia manawa, ke hoʻomau nei nā kānaka noiʻi i nā hoʻokolohua lapaʻau o nā lāʻau lapaʻau hou . Manaʻolana ʻia e hiki i kēia mau lāʻau lapaʻau ke mālama i nā hōʻailona wale nō akā i ka maʻi ponoʻī.

Hiki ke hoʻemi ʻia ka pilikia o ka familial dysautonomia (FD)?

ʻAʻole hiki iā mākou ke hōʻemi maoli i ka pilikia o ka loaʻa ʻana o ka FD, no ka mea, he genetic ia. Eia nō naʻe, he mea nui e makaʻala i nā hōʻailona a e ʻimi i ke kōkua lapaʻau a me ka lāʻau lapaʻau i ka wā hikiwawe loa .

Inā no ka lāhui Iudaio Ashkenazi ʻoe a ke hoʻolālā nei e loaʻa kahi keiki, he manaʻo maikaʻi ia e ʻimi i ke aʻoaʻo genetic . Hiki i kāu kauka ke ʻōlelo aku i ka hoʻāʻo genetic e ʻike inā loaʻa iā ʻoe ka gene ELP1 ma mua a i ka wā hāpai paha.

He aha ka manaʻolana no kekahi me Familial Dysautonomia (FD)?

ʻAʻohe lāʻau lapaʻau no ka familial dysautonomia. ʻOi aku ka pōkole o ke ola o ka poʻe me kēia maʻi ma mua o ka heluna kanaka maʻamau. Ma kahi o ka hapalua o kēia poʻe e ola ana a hiki i ko lākou mau makahiki 30. Hiki i kekahi ke ola a hiki i ko lākou mau makahiki 70.

ʻO ka lohe ʻana i kēia e hoʻomāʻehaʻeha iki paha iā ʻoe a e kaumaha hoʻi. Akā e hoʻomanaʻo, me ka mālama pono ʻana a me ka mālama maikaʻi ʻana, hiki iā ʻoe ke kōkua i kēia poʻe e ola i ke ola maikaʻi a piha hoʻi e like me ka hiki.

Hiki ke ʻoi aku ka ʻino o nā hōʻailona i ka hala ʻana o ka manawa. No ka laʻana, ma kahi o 49% o ka poʻe me FD e pono ai ke kōkua i ka hele wāwae ʻana i ka makahiki 50. Hiki iā lākou ke loaʻa i nā maʻi māmā pinepine, e like me ka niumonia .

Pehea e mālama ai kekahi me Familial Dysautonomia (FD) iā lākou iho?

Hiki iā ʻoe ke kōkua i ka hōʻemi ʻana i nā pilikia ma o ka hahai ʻana i kēia mau hana:

• E pale i ke aniau wela a pulu paha.
• E kaupalena i nā kūlana hoʻoluhi.
• E pale i nā huakaʻi lōʻihi.
• Mai kali a piha kou ʻōpū mimi.

Eia kekahi, pono ʻoe e nānā pinepine i kāu kauka i kēia mau mea :

• Ke koko koko.
• Nā maka.
• Hana puʻupaʻa.
• Hana hanu.
• Iwi kuamoʻo.

Leka Lawe-Home

ʻO ka Familial dysautonomia (FD) kahi maʻi genetic kakaikahi e hoʻopilikia i kāu ʻōnaehana nerve. Hoʻopilikia kūikawā ia i nā hana i makemake ʻole ʻia e like me ka hanu ʻana, ka ʻai ʻana, ka hana ʻana o ka waimaka, ke koko a me ka kaohi ʻana i ka mahana o ke kino, a me ka hana ʻana o ka lawai. Hiki iā ia ke hoʻopilikia i nā hana sensory e like me ka ʻono, ka ʻeha, a me ka mahana.

ʻOiai ʻaʻohe lāʻau lapaʻau piha no kēia, hiki i nā lāʻau lapaʻau e like me nā lāʻau lapaʻau, nā ʻano lapaʻau like ʻole, a me ke ʻoki ʻana ke kaohi i nā hōʻailona a hoʻomaʻalahi i ke ola.ʻOiai paha he pōkole ke ola o ka poʻe me ka familial dysautonomia, me ka mālama pono ʻana a me ka mālama ʻana, hiki iā lākou ke ola i kahi ola maikaʻi e like me ka hiki. ʻO ka mea nui loa, ʻo ia ke ʻimi mua i ke aʻo lapaʻau inā loaʻa iā ʻoe nā hōʻailona a e noho mau ma lalo o ka nānā ʻana o ke kauka.

ʻO ka dysautonomia ʻohana, ka ʻōnaehana nerve, nā maʻi genetic, ka maʻi Riley-Day, ke olakino o ke keiki, nā hōʻailona, ​​​​ka lāʻau lapaʻau