He aha ka Dyskeratosis Congenita? Loaʻa i kāu keiki kēia mau hōʻailona? E kamaʻilio kākou!

Ua ʻike anei ʻoe i kekahi mau loli ʻē i ka ʻili o kāu keiki, nā kui, a i loko paha o ko lākou waha? I kekahi manawa, he mea maʻamau paha kēia mau mea, akā aia paha he maʻi genetic kakaikahi ma hope o lākou. ʻO kekahi o ia mau maʻi ʻo Dyskeratosis Congenita , i kekahi manawa i hoʻopōkole ʻia ʻo (DC) a i ʻole (DKC). He mea paʻakikī paha kēia, akā e mālama kākou i ka maʻalahi a maʻalahi hoʻi e hoʻomaopopo.

He aha maoli ka Dyskeratosis Congenita?

I ka ʻōlelo maʻalahi, he maʻi laha loa ka dyskeratosis congenita. Hiki iā ia ke hoʻopilikia i nā ʻāpana he nui o ke kino o kāu keiki. I ka manawa pinepine, ʻike ʻia nā hōʻailona mua ma ka ʻili, nā kui, a ma loko o ka waha ma mua o ka piha ʻana o ke keiki i 10 mau makahiki. I kekahi mau keiki, ʻo ka hōʻailona mua o ke ʻano he mea like me ka hāʻule ʻana o ka iwi iwi. I kekahi manawa hiki i kēia ke alakaʻi i nā pilikia koʻikoʻi, e like me ke kanesa, i ka wā kamaliʻi, i ka wā ʻōpio, a i ʻole i ka wā makua.

ʻO kēia kūlana, i kapa ʻia ʻo dyskeratosis congenita, no kahi hui nui o nā maʻi biology telomere . E noʻonoʻo e like me nā pāpale plastik liʻiliʻi ma ka hopena o kā mākou mau kaula kāmaʻa. Aia kēia mau mea ma nā hopena o kā mākou chromosomes - nā ʻano i loaʻa ai kā mākou mau genes (DNA). Mālama kēia mau telomeres i kā mākou mau genes. ʻO lākou ka mea e mālama ai i kā mākou mau ʻōpū a me nā ʻiʻo i loko o ko mākou kino e ulu a hana pono. Akā i loko o kahi keiki me ka dyskeratosis congenita, ʻoi aku ka pōkole o kēia mau telomeres ma mua o ka mea e pono ai. ʻO ia ke kumu e kū mai ai nā pilikia like ʻole.

Aia kekahi mau maʻi telomere ʻē aʻe e like me kēia:

• ʻO ka maʻi Hoyeraal Hreidarsson (HH)
• ʻO ka maʻi Revesz (RS)
• ʻO ka maʻi Coats me ka maʻi

He aha nā hōʻailona o ka dyskeratosis congenita?

Ua ʻike mua nā kānaka noiʻi i ʻekolu mau ʻano nui i nā keiki me ka "classic dyskeratosis congenita" (classic DC):

1. Nā ʻano ʻokoʻa o ke kala o ka ʻili: Hiki ke ʻike ʻia ka ʻili ma ka ʻāʻī o ka pēpē, ka umauma o luna, a me nā lima i loko o kahi ʻano mesh a i ʻole lei. Hiki ke ʻoi aku ka māmā a ʻeleʻele paha o ka ʻili i hoʻopilikia ʻia ma mua o ke kala maʻamau o ka ʻili o ka pēpē.

2. Nā ʻano kīnā a nalowale paha o ke kui: E ʻike paha ʻoe i nā kualono a i ʻole nā ​​māwae i kou mau kui lima a/a i ʻole nā ​​​​kui wāwae. Hiki iā lākou ke ʻili, ulu mālie, a i ʻole e pōkole ma mua o ka maʻamau. I kekahi manawa, hiki i kou mau kui ke lilo i pōkole ma mua o ka maʻamau, a i ʻole e nalowale loa. Hiki i kēia mau loli ke hoʻopilikia wale i kekahi mau kui, aʻo kekahi e noho maʻamau.

3. Leukoplakia: Hiki ke ʻike ʻia nā ʻāpana keʻokeʻo mānoanoa ma ke alelo o ke keiki a i loko paha o nā papālina.

Ua kapa nā kauka i kēia mau hōʻailona ʻekolu i ka "mucocutaneous triad."ʻO "Muco" ke ʻano o ka uhi o ka waha, a ʻo "cutaneous" ke ʻano o ka ʻili. Eia nō naʻe, he ʻano paʻakikī loa ka dyskeratosis congenita e hoʻopilikia iki ana i kēlā me kēia keiki.

Eia kekahi laʻana, hiki i kekahi mau keiki ke loaʻa i ka hāʻule ʻana o ka iwi ma mua o ka ʻike ʻia ʻana o kēia mau hōʻailona ʻekolu. A laila hiki i nā kauka ke ʻike i ka dyskeratosis congenita i ka wā e hana ana lākou i nā hoʻokolohua e ʻike ai i ke kumu o ka hāʻule ʻana o ka iwi.

Hiki i nā keiki ʻē aʻe ke loaʻa nā hōʻailona like ʻole e like me ka pili ʻole, akā ma hope o ka hoʻāʻo ʻana e ʻike ai nā kauka ʻo ka dyskeratosis congenita ke kumu.

Nā hōʻailona ʻē aʻe e hiki ke loaʻa:

• Nā pilikia e pili ana i ka iwi: Osteoporosis (ka lahilahi o nā iwi), nā haki, a me ka avascular necrosis o nā iwi ma nā pūhaka a me nā poʻohiwi.
• Kanesa: Leukemia, kanesa ʻili, kanesa squamous cell poʻo/ʻāʻī.
• Nā pilikia kaulike a me ka hoʻonohonoho ʻana: Paʻakikī me nā mea e like me ka hele wāwae (ataxia).
• Ka emi ʻana o ka hana ʻana o nā hormones wahine (hypogonadism).
• Ka nāwaliwali o ka ʻōnaehana pale (immunodeficiency).
• Nā pilikia niho: Pala nui nā niho, nā niho palupalu.
• Nā lohi a i ʻole ke kīnā o ka ulu ʻana.
• Ka hoʻohaiki ʻana o ka Esophageal: Hiki i kēia ke pilikia i ka ale ʻana, ka luaʻi ʻana, a me ka loaʻa ʻana o ke kaumaha.
• Ka hou nui ʻana.
• ʻO ka hāʻule ʻana o ka lauoho a i ʻole ke hina ʻana i ka wā ʻōpiopio.
• Maʻi akepaʻa.
• Nā maʻi o ka māmā.
• Kino pōkole .
• Poʻo liʻiliʻi (microcephaly) .
• Ka hoʻohaiki ʻana o ka urethral .
• Nā maka waimaka a me ka maʻi lihilihi.

He aha ke kumu o ka dyskeratosis congenita?

Hoʻokumu ʻia ka dyskeratosis congenita e nā ʻokoʻa/mutation genetic . ʻO ke kikoʻī, e like me kaʻu i ʻōlelo ai ma mua, hoʻopilikia ia i nā genes e kaohi ana i ka hana o nā telomeres a kāu keiki.

Ke hana pono ʻole nā ​​telomeres, ʻaʻole hiki i kekahi o nā cell i loko o ke kino o ke keiki ke hana pono. Hiki i kēia ke alakaʻi i nā hemahema o nā cell koko, ka hana pono ʻole o nā ʻōkana, a me nā pilikia ʻē aʻe.

He mea kēia i loaʻa mai nā hanauna mai?

ʻAe, hiki ke hoʻoili ʻia ka dyskeratosis congenita mai kēlā hanauna a i kēia hanauna. Hiki i ke keiki ke hoʻoilina mai kekahi a i ʻole nā ​​mākua ʻelua. Eia nō naʻe, hiki nō hoʻi i ke keiki ke loaʻa iā ia no ka manawa mua, ʻoiai inā ʻaʻohe mea o ka ʻohana i loaʻa i ke ʻano ma mua.

He aha nā genes e pili ana i ka dyskeratosis congenita?

Eia kekahi o nā genes a nā kānaka noiʻi e hoʻopili pinepine ai i ka dyskeratosis congenita a me nā maʻi biology telomere:

ʻO DKC1, TERC, TERT, TINF2, ACD, CTC1, DCLRE1B, NHP2, NOP10, NPM1, POT1, RPA1, STN1, TCAB1, PARN, RTEL1.

He aha nā pilikia e hiki mai ana o ka dyskeratosis congenita?

Hiki i kēia maʻi ke alakaʻi i nā pilikia like ʻole, ʻo kekahi o ia mau mea:

• Ka hāʻule ʻana o ka iwi iwi: ʻO kēia ka pilikia maʻamau. Hana pinepine ia ma mua o 30 mau makahiki.
• ʻO ka fibrosis puʻuwai
• ʻO ka Myelodysplastic syndrome (MDS) (kahi pilikia me ka hana ʻana o nā hunaola koko i loko o ka iwi iwi)
• ʻO ka leukemia myeloid koʻikoʻi (AML) (kahi ʻano maʻi koko)
• Nā maʻi ʻaʻai poʻo a me ka ʻāʻī
• Ka maʻi ʻili
• ʻO ka fibrosis o ke akepaʻa

I ka makahiki hea e ʻike ʻia ai ka dyskeratosis congenita?

ʻO ka hapa pinepine, ʻike ʻia kēia maʻi i ka wā kamaliʻi a i ʻole ka wā ʻōpio, no ka mea, ʻo ia ka manawa e ʻike ʻia ai nā hōʻailona mua. Eia nō naʻe, ʻaʻole paha e hōʻike kekahi poʻe i nā hōʻailona a hiki i ka wā makua, a ʻaʻole paha e ʻike ʻia ua loaʻa iā lākou ka maʻi.

Pehea e ʻike ai nā kauka i kēia maʻi?

Hana nā kauka i kēia mau mea e ʻike ai i ka dyskeratosis congenita:

• E nīnau ʻia ʻoe e pili ana i nā hōʻailona o kāu keiki.
• Hoʻoponopono hou ʻia ka mōʻaukala olakino o ke keiki a me ka ʻohana.
• Ke hana nei i kahi hoʻokolokolo kino.
• Ua kauoha ʻia nā hoʻokolohua kūikawā.

Huli nā kauka i nā hōʻailona i ʻike ʻia o ka maʻi (e like me nā loli ʻili, nā loli kui, nā kiko keʻokeʻo ma ka waha) a laila hoʻohana i nā hopena hoʻāʻo e hōʻoia inā ʻo ka dyskeratosis congenita ke kumu o kēlā mau hōʻailona.

Nā hoʻāʻo no ka Dyskeratosis Congenita (DKC)

Hiki i kāu kauka ke kauoha i kekahi mau hoʻokolohua no kāu keiki. E kōkua pololei kekahi i ka hōʻoia ʻana, aʻo kekahi e hōʻike paha i nā hōʻailona ʻē aʻe e hoʻopilikia paha i ke olakino o kāu keiki a me ka hoʻolālā lapaʻau.

ʻO nā hoʻokolohua nui ʻelua e ʻike ai i ka dyskeratosis congenita:

• ʻO ke kahe ʻana o ka cytometry: Ke ana nei kēia i ka lōʻihi o nā telomeres o kāu keiki. Hāʻawi nā hopena hoʻāʻo i ka lōʻihi o ka telomere a me ka percentile. Hōʻike kēia percentile i ke ʻano o ka hoʻohālikelike ʻana o ka lōʻihi o ka telomere o kāu keiki me ka lōʻihi o nā keiki ʻē aʻe i ko lākou mau makahiki.
• Hoʻāʻo hoʻoilina: Nānā kēia i nā hoʻololi genetic e pili ana me ka dyskeratosis congenita.

ʻO ka hapa pinepine, lawe ʻia kahi hāpana koko no kēia mau hoʻokolohua. I nā hihia kūikawā, hiki ke lawe ʻia nā hāpana ʻiʻo ʻē aʻe, e like me kahi ʻāpana ʻili liʻiliʻi (biopsy ʻili).

Nā hoʻokolohua hou aʻe

ʻO kekahi mau hoʻokolohua ʻē aʻe e pono ai kāu keiki:

• Ka nānā ʻana i nā niho
• Endoscopy (ka nānā ʻana i nā ʻōpū o loko me ka hoʻohana ʻana i kahi ʻōmole me ke kāmela)
• Hoʻokolokolo maka
• Hoʻāʻo ʻili
• Ka nānā ʻana i ka iwi ʻiwi
• Nā hoʻokolohua kiʻi e nānā i nā ʻāpana like ʻole o ke kino (e like me ka lolo, ka puʻuwai, nā māmā, ke akepaʻa, nā iwi)
• Nā hoʻāʻo hana pulmonary
• Nā hoʻāʻo hana o ka ʻōnaehana pale
• Hoʻāʻo Neuropsychological

Pehea e mālama ʻia ai ka dyskeratosis congenita?

Hoʻolālā nā kauka i ka lāʻau lapaʻau e pili ana i nā pono o kāu keiki. ʻAʻohe hoʻolālā lapaʻau hoʻokahi e kūpono i nā keiki āpau, no ka mea, ʻokoʻa ka hopena o kēia maʻi i kēlā me kēia keiki.

ʻO kekahi o nā lāʻau lapaʻau i loaʻa:

• Nā hoʻoili koko: No ka hoʻolako ʻana i nā hunaola koko ʻulaʻula olakino a me nā platelets.
• ʻO ka lāʻau Androgen: Hiki ke kōkua i ka mālama ʻana i ka helu koko olakino a hiki ke hoʻolōʻihi i nā telomeres no kekahi manawa.
• Hoʻoili pūnaewele kumu: Hiki ke ho'ōla ʻia ka hāʻule ʻana o ka iwi iwi, MDS, a i ʻole leukemia. Eia nō naʻe, hana ʻia kēia i kekahi mau hihia wale nō, ke ʻoi aku ka nui o nā pono ma mua o nā pilikia.

E kamaʻilio pū ana ke kime lapaʻau o kāu keiki me ʻoe e pili ana i nā koho lapaʻau i loaʻa iā ʻoe. ʻAʻole hiki i nā lāʻau lapaʻau o kēia manawa ke ho'ōla piha i ka dyskeratosis congenita a hoʻololi mau paha i ka lōʻihi o ka telomere. Akā, ua kuhikuhi ʻia nā lāʻau lapaʻau e kaohi i nā hōʻailona kikoʻī a i ʻole nā ​​​​pilikia o ka maʻi. Ke hana nui nei nā kānaka noiʻi e ʻimi i nā lāʻau lapaʻau hou e hiki ke kōkua i nā keiki a me nā pākeke me kēia maʻi.

He aha ke ʻano o nā kauka e mālama ai i kaʻu keiki?

Hoʻolālā ʻia ka lāʻau lapaʻau e kahi hui kauka multidisciplinary. Loaʻa paha i kāu keiki kahi "home lapaʻau" a kauka mālama mua paha e hana pū me ʻoe a hoʻonohonoho pū me nā kauka ʻē aʻe.

Hiki i ka hui mālama o kāu keiki ke komo pū me nā pediatricians laulā, a me nā loea pediatric e like me:

• Nā kauka niho
• Nā kauka ʻili
• Nā kauka endocrinologist
• Nā kauka ʻōpū
• Nā kauka hematology/oncologists
• Nā kānaka lapaʻau immunologist
• Nā kauka lolo
• Nā loea maka (Ophthalmologists)
• Nā loea pepeiao, ihu a me ka ʻāʻī (Otolaryngologists)
• Nā kauka lapaʻau pulmonology
• Nā kānaka ʻepekema genetics

Inā loaʻa i kaʻu keiki ka dyskeratosis congenita, he aha kaʻu e manaʻo ai?

He mea paʻakikī ke ʻōlelo pololei i ke ʻano o kāu keiki i ka wā e hiki mai ana, a i ʻole nā ​​mea e hana ʻia i ka wā e hiki mai ana. Hiki i ka Dyskeratosis congenita ke kaupalena i ke ola o ke keiki. Akā, he mea paʻakikī ke ʻōlelo i ka nui.

Nui nā mea kānalua me ka dyskeratosis congenita. E hāʻawi ka hui lapaʻau o kāu keiki iā ʻoe i ka ʻike e like me ka hiki, a e wehewehe i ka pinepine o kāu keiki e pono ai i nā hoʻokolohua a me nā manawa kauka.

He aha ke kumu maʻamau o ka make ma ka dyskeratosis congenita?

ʻO ke kumu maʻamau o ka make i waena o ka poʻe me ka dyskeratosis congenita ʻo ia ka hāʻule ʻana o ka iwi ʻiʻo , kahi e hoʻoulu ai i nā maʻi koʻikoʻi a me ke kahe ʻana o ke koko ma muli o ka nele o nā hunaola koko olakino.

ʻO nā kumu maʻamau ʻē aʻe o ka make e komo pū ana me ka maʻi māmā a me ke kanesa.

Hiki ke pale ʻia ka dyskeratosis congenita?

ʻAʻohe ala i ʻike ʻia i kēia manawa e pale aku ai i kēia maʻi hoʻoilina. Inā ʻoe a i ʻole kekahi o kou ʻohana he dyskeratosis congenita, he manaʻo maikaʻi e kamaʻilio me kahi kākāʻōlelo hoʻoilina . Hiki iā lākou ke kōkua iā ʻoe e hoʻomaopopo i nā manawa kūpono e hoʻoilina ai kāu mau keiki i ke kūlana.

He aha kaʻu e hana ai e mālama ai i kaʻu keiki?

Hiki ke paʻakikī ke ʻike ʻana ua loaʻa i kāu keiki ka dyskeratosis congenita. Eia nō naʻe, nui nā mea hiki iā ʻoe ke hana e kākoʻo i ke olakino o kāu keiki a hōʻemi i ka pilikia o nā pilikia.

ʻOi aku ka nui o ka pilikia o ka poʻe me ka dyskeratosis congenita i kekahi mau maʻi kanesa a me nā maʻi māmā. Hoʻonui nā mea pili i ke kaiapuni e like me ka lā a me ka puhipaka i kēia pilikia. Hiki iā ʻoe ke kōkua i kāu keiki ma ka hoʻoikaika ʻana iā lākou e:

• E hoʻohana i ka pale lā a me nā mea pale (e like me nā pāpale a me nā lole lima lōʻihi) i ka wā e hele ai i waho.
• E hōʻemi i kou manawa i ka lā pololei.
• E hōʻalo loa i nā huahana paka a pau.
• E hōʻemi a hoʻōki loa paha i ka inu ʻana i ka waiʻona.

E hāʻawi ka hui lapaʻau o kāu keiki i nā ʻōlelo aʻoaʻo e pili ana i nā pono o kāu keiki. Hiki iā lākou ke paipai i nā hui aʻoaʻo a i ʻole nā ​​​​hui kākoʻo. No ka laʻana, he nui nā hui e kōkua ana i ka poʻe me nā maʻi laha ʻole. ʻO Team Telomere kahi hui no ka poʻe me ka dyskeratosis congenita a me nā maʻi biology telomere ʻē aʻe.

Āhea wau e ʻimi ai i ke kōkua lapaʻau no kaʻu keiki?

He nui nā manawa i koho ʻia e kāu keiki no ke kauka. E haʻi pololei aku kā lākou hui lapaʻau iā ʻoe i nā kauka e ʻike ai a me ka pinepine.

He mea nui loa kēia mau kipa ʻana i ke kauka. Hāʻawi lākou i nā kauka e nānā i ke kūlana o kāu keiki a hoʻoponopono i ka lāʻau lapaʻau e like me ka mea e pono ai. ʻAʻole paha e ʻike mau ʻia kekahi o nā pilikia o ka dyskeratosis congenita ma ka home. Hiki ke ʻike ʻia nā mea e like me ka emi ʻana o ka nui o ka iwi a me nā hōʻailona mua o ka maʻi kanesa ma o nā hoʻokolohua wale nō.

Hiki i nā kauka ke aʻo iā ʻoe pehea e hana ai i nā hoʻokolokolo ponoʻī ma ka home no nā mea e like me ke kanesa ʻili a me ke kanesa waha. ʻAʻole kēia he pani no ka ʻike ʻana i ke kauka. Eia nō naʻe, he ala koʻikoʻi lākou e ʻike mua ai i kekahi mau hōʻailona a mālama koke i kāu keiki.

He aha nā nīnau e pono iaʻu e nīnau aku i ka hui lapaʻau o kaʻu keiki?

Ma hope o ka ʻike ʻia ʻana me ka dyskeratosis congenita, hiki i kēia mau nīnau ke kōkua iā ʻoe e aʻo hou aʻe:

• He aha nā hōʻailona o kaʻu keiki?
• He aha nā pilikia e hiki mai ana?
• He aha nā lāʻau lapaʻau āu e paipai nei?
• He aha nā pōmaikaʻi a me nā pilikia o kēia mau lāʻau lapaʻau?
• Hiki iā ʻoe ke kuhikuhi i kahi hui kākoʻo a i ʻole nā ​​​​kumuwaiwai ʻē aʻe?
• Pehea e wehewehe ai au i kēia kūlana i kaʻu keiki?
• Ua ʻōlelo ʻia anei ka hoʻāʻo ʻana i ka genetics noʻu a i ʻole nā ​​​​lālā ʻē aʻe o ka ʻohana?

He mea kōkua paha ka nīnau ʻana i kēia mau nīnau i nā keiki makua a me nā keiki ʻōpio:

• Pehea e hiki ai iaʻu ke kōkua i kaʻu keiki e lawe i ke kuleana no kona mālama ola ponoʻī ma ke ʻano kūpono i kona mau makahiki?
• Pehea a i ka manawa hea e hoʻomākaukau ai mākou e hoʻoili i kaʻu keiki mai nā kauka pediatric i nā kauka makua?

E aʻo hou kākou e pili ana i ke ʻano o nā telomeres.

ʻAe, ua kamaʻilio iki mākou e pili ana i nā telomeres ma mua. ʻO kēia nā moʻo hou o ka DNA ma ka hopena o kēlā me kēia chromosomes o kāu keiki. Aia kēlā me kēia o nā genes o kāu keiki ma waena o kēia mau telomeres ʻelua. Hoʻohālikelike nā kauka iā lākou me nā pāpale plastik ma nā wēlau o nā kaula kāmaʻa. E like me kēlā mau pāpale e pale ai i nā kaula kāmaʻa mai ka haki ʻana, pale nā ​​telomeres i nā genes o kāu keiki.

Loaʻa nā chromosome ma aneane kēlā me kēia cell i loko o ke kino o ke keiki. Ke hana hou mau nei kēlā mau cell iā lākou iho. ʻO ia ka mea e mālama pono ai i nā ʻōpū a me nā ʻiʻo o ke keiki e hana pono.

I kēlā me kēia manawa e māhele ai kahi cell, hana ia i nā kope o kāna mau chromosome. I kēlā me kēia manawa e hana ʻia ai kēia, e pōkole iki nā telomeres ma kahi chromosome. He mea maʻamau kēia. Hele mai kahi enzyme i kapa ʻia ʻo telomerase a hoʻoponopono i kēlā mau telomeres i kahi lōʻihi olakino i hiki ai i ke cell ke hoʻomau i ka māhele ʻana. Inā pōkole loa nā telomeres, e pau ka māhele ʻana o ke cell.

I loko o ka dyskeratosis congenita, ʻo nā hoʻololi genetic ke kumu o ka pōkole ʻana o nā telomeres. Hiki ke hana ʻia kēia ma nā ʻano like ʻole. No ka laʻana, hiki i kahi hoʻololi genetic ke hoʻopilikia i ka hana ʻana o ka telomerase. A i ʻole hiki ʻole i ka telomerase ke hiki i nā telomeres. No laila, lilo nā telomeres o kāu keiki i pōkole a ʻaʻole e ulu hou.

Ke pōkole loa nā telomere i loko o kahi cell, e pau ana kēlā cell i ka hana kope ʻana iā ia iho. I ka pau ʻana o ka māhele ʻana o nā cell he nui, e nalowale ana nā ʻano kino a me nā ʻiʻo like ʻole i loko o ke kino o ke keiki i nā mea e pono ai lākou e hana pono. Pēlā ke kumu o nā telomere pōkole i nā hōʻailona a me nā pilikia o ka dyskeratosis congenita.

Ua like anei kēia me ka maʻi Zinsser-Cole-Engman?

ʻAe, ʻo Zinser-Cole-Engman syndrome a me dyskeratosis congenita ʻelua mau inoa no ke ʻano like. Ua kapa ʻia e nā kānaka noiʻi i ʻike i ke ʻano i ka makahiki 1906 ʻo Zinser-Cole-Engman syndrome. Akā i kēia lā, kapa ka hapa nui o ka poʻe iā ia ʻo dyskeratosis congenita.

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai (Leka Lawe-Home)

He mana ka ʻike. Akā i kekahi manawa, ʻoiai me ka ʻike āpau o ke ao nei, hiki nō iā ʻoe ke manaʻo he kōkua ʻole. Ke ʻike ʻoe ua loaʻa i kāu keiki ka dyskeratosis congenita, he nui kāu mau nīnau. Hiki ke like ia ʻoiai inā loaʻa iā ʻoe ke ʻano - no ka mea, ʻaʻole like ka hopena o nā kūlana genetic i hoʻoili ʻia ma o nā ʻohana i nā kānaka āpau.

Hiki i nā kauka o kāu keiki ke kōkua iā ʻoe e hoʻomaopopo i ke kūlana a me nā pono o kāu keiki. ʻO lākou ke kumu maikaʻi loa o ka ʻike e pili ana i ke ʻano o ka hopena o ke kūlana i ke kino o kāu keiki. Eia kekahi, e hoʻomanaʻo he kaiāulu holoʻokoʻa o ka poʻe me nā maʻi laha ʻole e mākaukau e kākoʻo iā ʻoe. Hiki iā lākou ke hāʻawi iā ʻoe i ka ʻōlelo aʻoaʻo mai ko lākou mau ʻike. Mahalo nui hoʻi lākou i kāu mea e ʻōlelo ai. ʻO ka ʻike ʻaʻole ʻoe hoʻokahi e hiki ke kōkua iā ʻoe e neʻe i mua.