Ke lawe nei kekahi maʻi kakaʻikahi i kona ʻike. Hiki ke kōkua ka lāʻau lapaʻau gene – inā hiki iā ia ke loaʻa

Ua haʻaheo ʻo CNBC Cures e Alexion, AstraZeneca Rare Disease, nona ke kākoʻo e hiki ai i kā mākou nūpepa ke hoʻokiʻekiʻe i nā moʻolelo e holomua ana i ka noiʻi, ka hana hou a me ka mālama hoʻomanawanui i nā maʻi maʻamau.

Inā hiki i nā mākua ke kōkua i kā lāua keiki maʻi, ʻo Judy lāua ʻo Courtney Stecker.

Ua hana lāua ʻelua no ka hoʻokele Trump, hāʻawi iā lākou i nā pilina kiʻekiʻe ma Wakinekona a ma nā halemai kiʻekiʻe o ka lāhui. Ua ʻike nā kauka i kā lāua keiki, ʻo Wheeler, me kahi maʻi lolo i ka wā kamaliʻi, ʻaʻole hiki ke hoʻolōʻihi i kona holomua. Ua kūkulu nā kānaka ʻepekema i lāʻau lapaʻau e hiki ke kōkua iā ia.

Eia naʻe, ʻehiku mau makahiki ma hope o ka hānau ʻana o Wheeler me kahi ʻano maʻi Batten, ʻaʻole i loaʻa iā ia kēlā lapaʻau. A ke holo nei ka manawa. Hele makapō ʻo Wheeler.

ʻOiai ke hana nei nā kānaka ʻepekema i nā hanana hou no nā maʻi laha ʻole a hoʻohiki nā mea hoʻoponopono e ʻoi aku ka maʻalahi i ka loiloi ʻana iā lākou, ua hōʻike ka moʻolelo a Wheeler i ka nui o nā maʻi e hāʻule mau ana i nā māwae. Hoʻokuʻu ʻia lākou mai nā hoʻokolohua lapaʻau ma muli o ko lākou mau makahiki a i ʻole nā ​​​​lāʻau lapaʻau ʻē aʻe a lākou e lawe nei. Hoʻopau pinepine nā lāʻau hoʻohiki no ka pau ʻana o ke kālā o nā ʻoihana e hoʻāʻo nei e hālāwai i ka pae kiʻekiʻe i hoʻonohonoho ʻia e nā regulators. A inā ʻimi lākou i ke komo kūikawā i nā lāʻau lapaʻau ʻaʻole i ʻae ʻia, hiki iā lākou ke waiho i kahi pilikia kūpono no nā hui lāʻau.

I ka hoʻoikaika ʻana e kōkua i kā lāua keiki, ua hoʻonohonoho ʻia nā Steckers no ka kūleʻa. Akā, he huakaʻi lōʻihi nā makahiki ʻehiku i hala ma ka wao nahele.

“Ua paʻa mākou i kēia ʻāina kanaka ʻole,” i ʻōlelo ai ʻo Judy Stecker ma kahi ninaninau.

I kēia manawa, ʻo nā kamaʻilio ʻana o kahi hui me ka FDA ʻo ia ka pana hope loa a Wheeler i ka mālama ʻana i kāna ʻike.

Ma mua o ka hānau ʻia ʻana o Wheeler, ua ʻike ʻo Judy lāua ʻo Courtney Stecker e hiki ke loaʻa iā lāua kahi keiki me kahi maʻi kakaʻikahi. Ua hōʻike ʻia kahi hoʻāʻo genetic he mea lawe lāua ʻo CLN3, ke ʻano maʻamau o ka maʻi e pale ai i nā cell mai ka hoʻomaʻemaʻe ʻana i ka ʻōpala, e hoʻoulu ai i ka ʻona i loko o ka lolo. He mea pōʻino ka maʻi Batten, ʻaihue nā keiki i ko lākou hiki ke ʻike, ʻōlelo, hele a moni. ʻOiai kakaʻikahi, pili wale i ka lima o kēlā me kēia 100,000 keiki, ʻo ia ke ʻano maʻamau o ka dementia kamaliʻi.

Akā naʻe, ua makemake nā kāne e ulu i ko lāua ʻohana. I ka hopena o 2018, ma hope o nā makahiki o nā pōʻai IVF i kūleʻa ʻole, me ʻelua hāʻule ʻole, ua hāpai ʻo Steckers. Ua hānau ʻia ʻo Wheeler ma Mei 2019. Ua hoʻāʻo ʻo ia i ka maʻi Batten ma ʻehā pule.

No nā moʻolelo hou aku e like me kēia, e kākau inoa no ka Nūpepa CNBC Cures.

Ma kekahi mau ʻano, laki ʻo Wheeler. ʻAʻole ʻike ka hapa nui o nā ʻohana ua loaʻa kā lākou keiki i ka maʻi Batten a hiki i ka makahiki 5 ke hoʻomaka lākou e nalowale ko lākou ʻike. He mea koʻikoʻi kāna ʻike mua ʻana no ka hoʻolohi ʻana i kahi maʻi e pepehi ai i nā cell lolo. ʻO ka mea hou aʻe, ʻaʻole loaʻa i nā maʻi maʻi kakaikahi hoʻokahi lāʻau lapaʻau ma ka ʻaoʻao. I ka wā i hānau ʻia ai ʻo Wheeler, ua hoʻomohala ʻia nā lāʻau lapaʻau he nui no kona ʻano, me kahi lāʻau lapaʻau hoʻohiki i hana ʻia e Nationwide Children’s Hospital ma Ohio.

I kēlā manawa, nui ka hauʻoli e pili ana i ka lāʻau lapaʻau. Me ka infusion hoʻokahi, hiki iā ia ke hoʻoponopono i nā kuhi hewa i loko o ka DNA i hiki ke hoʻōla i kahi ākea o nā maʻi genetic laʻa. Ua hōʻea ka hype i kahi maʻi maʻi i ka makahiki 2019, i ka wā i ʻae ai nā regulators US iā Zolgensma, kahi lāʻau lapaʻau no ka spinal muscular atrophy. Ma nā hālāwai lapaʻau, ua waimaka nā neurologist i ko lākou mau maka e nānā ana i nā wikiō o nā keiki i loaʻa i ka lāʻau lapaʻau a ʻaʻole ola wale nō akā hiki ke hele. Ua ninini nā mea kālā i ke kālā i ka ʻenehana. Hoʻomaka kekahi hui, ʻo Amicus Therapeutics, e ʻimi i nā lāʻau lapaʻau he nui no ka maʻi Batten ma hope o ka loaʻa ʻana o nā kuleana mai nā Nationwide Children’s.

I kēlā manawa, ʻaʻohe mea – ʻaʻole ʻo Steckers – i ʻoluʻolu i ka hāʻawi ʻana i kahi lāʻau lapaʻau koʻikoʻi i kahi pēpē i hōʻike ʻole i nā hōʻailona.

“ʻAʻole mākou i ʻike i kekahi mea e pili ana i ka lāʻau lapaʻau,” wahi a Kathrin Meyer, nāna i alakaʻi i kahi hui ma Nationwide Children’s i hoʻomohala i ka lāʻau lapaʻau. “He nui ka lilo o keia keiki.”

Manaʻo nā kauka e loaʻa iā Wheeler ka lāʻau ma mua o ka ʻike ʻana o nā hōʻailona.

“ʻO ka mea pōʻino,” wahi a Meyer, “ʻo ka mea i manaʻo ʻole ʻia e pau nā mea āpau.”

I ka hala ʻana o nā mahina, ʻike ka ʻoihana biotech i ka paʻakikī o ka lāʻau lapaʻau. Pono ia e hoʻokomo i ka nui o nā maʻi i hoʻololi ʻia e hāʻawi i nā kope hana o nā genes i nā cell. Ua make kekahi mau maʻi mai nā hopena ʻaoʻao. Ua hakakā nā ʻoihana e hoʻonui i ke kālā no ka uku ʻana i nā koi hana a ka FDA. ʻO ka manawa kūʻai kūʻai – pinepine wale i nā haneli haneli – liʻiliʻi. Holo nā kānaka hoʻopukapuka kālā.

ʻO Amicus, i kēia manawa, holo i nā pilikia ʻē aʻe. ʻOiai ua hōʻike ka gene therapy no CLN3 Batten Disease i ka ʻōlelo hoʻohiki i nā keiki ʻehā i loaʻa iā ia, pono ka hui e hōʻoia i ka hana ʻana i nā mea maʻi hou aʻe e loaʻa ai ka ʻae. Ua manaʻo ʻo Amicus e holo i kahi hoʻokolohua hope loa me ʻelua mau keiki he ʻelua mau makahiki a hoʻohālikelike i kēlā mau hopena i ka holomua ʻana o nā keiki ʻē aʻe me ka maʻi, ʻike ʻia he haʻawina moʻolelo kūlohelohe.

Akā i ka hopena o 2021, ua hoʻouna ka FDA i kahi leka iā Amicus, me ka ʻōlelo ʻana ʻaʻole lawa ia, e like me John Crowley, ʻo ia ka Luna Nui o ka hui i kēlā manawa. Ua haʻi ke keʻena iā Amicus e pono e holo i kahi haʻawina ʻelima makahiki me ka liʻiliʻi o 50 mau maʻi, a pono e loaʻa i kekahi mau keiki kahi placebo. ʻO ka hoʻāʻo ʻana me nā maʻi ʻoi aku ka nui o ke kālā. A manaʻo nui nā kānaka ʻepekema he mea kūpono ʻole ka hāʻawi ʻana i kahi placebo i ka mea maʻi me kahi maʻi degenerative e like me ka maʻi Batten, kahi e loaʻa ai ka lāʻau hoʻopunipuni ʻo ia ka hele makapō.

“ʻAʻohe mea e hoʻolilo kālā i kēlā,” wahi a Crowley, ke alakaʻi nei i ka hui kālepa ʻoihana biotech Biotechnology Innovation Organization. “Ma hope o kēlā, ʻaʻole hiki iaʻu ke hāʻawi aku.”

ʻAʻole pili wale ka pilikia i nā koi koʻikoʻi i ka FDA, e like me Crowley. ʻO ka ʻōnaehana holoʻokoʻa i kūkulu ʻia e kākoʻo i ka hoʻomohala ʻana i nā lāʻau lapaʻau maʻi ʻaʻole paʻakikī loa, wahi āna. He lohi loa nā hoʻokolohua lapaʻau a ʻaʻole pono. A ʻaʻohe kumu hoʻohālike hilinaʻi no ka poʻe ʻinikua olakino e uku no nā lāʻau lapaʻau hoʻokahi manawa e kūʻai ana i nā miliona miliona.

“Ua hāʻule ka ʻōnaehana i kēia mau keiki,” wahi a Crowley.

I ka makahiki 2024, ua hāʻawi ʻo Amicus i ka lāʻau lapaʻau no ka maʻi CLN3 Batten i hoʻihoʻi i nā Nationwide Children’s.

No Wheeler, aia nō ka manaʻolana.

ʻO kahi hui hou, ʻo Neela Therapeutics, ke hoʻāʻo nei e kiʻi i ka lāʻau lapaʻau ma ka laina hoʻopau. ʻO Meyer, ka luna ʻepekema nui o Neela i kēia manawa, manaʻoʻiʻo e hana ka lāʻau lapaʻau. ʻO nā maʻi ʻehā i hoʻopaʻa ʻia, ʻekolu i hōʻike i “ka hoʻokūpaʻa maʻi kupaianaha,” wahi āna. Ua ʻike mua ʻia kekahi e mālama ʻia ma mua o ka nalowale ʻana o ka ʻike. ʻOi aku ma mua o 6 mau makahiki ma hope o ka mālama ʻana, hiki i kēlā maʻi, ʻo ia ka 13 i kēia manawa, hiki ke heluhelu a ʻike i nā kala. ʻO kekahi he 16 a hiki ke holo, loaʻa ka ʻike maʻamau a ʻōlelo kokoke loa.

Akā ʻaʻole ʻae ʻia ʻo Wheeler no ka lāʻau lapaʻau e hiki mai ana ʻo Neela no ka mea ke lawe nei ʻo ia i kekahi lāʻau lapaʻau, i kapa ʻia ʻo miglustat. Manaʻo ʻo Stecker ua kōkua ʻo ia e mālama i kāna ʻike ma mua o ka hapa nui o nā keiki me ka maʻi. Akā ʻo nā lāʻau hoʻokolohua e like me ka miglustat hiki ke hoʻololi i ka maʻi maʻi maʻi a me ka hoʻopili ʻana iā lākou e paʻakikī i nā hopena hoʻokolokolo, wahi a Meyer.

No laila ua hāʻawi ka makuahine o Wheeler i kahi koho ʻē aʻe: me ka hoʻohana ʻana i ka polokalamu hiki ke hoʻonui ʻia e ka FDA e loaʻa iā ia ka lāʻau lapaʻau. ʻO ka papahana, ʻike ʻia hoʻi ʻo ka hoʻohana aloha, he ala hoʻoponopono e kōkua ana i nā poʻe maʻi make e loaʻa nā lāʻau lapaʻau ʻole ma waho o kahi hoʻokolohua lapaʻau. ʻAʻole makemake ʻo Neela e neʻe. He mau kakini paha o na ma’i e kali ana no keia lapaau. Pehea ʻoe e hāʻawi ai i hoʻokahi keiki akā ʻaʻole i kekahi?

“Pono loa ka huila e mālama ʻia,” wahi a Meyer. “Akā, pēlā nō nā keiki ʻē aʻe me ka maʻi degenerative. Aia lākou a pau ma ke ala e nalowale ai nā mea a pau i loaʻa iā lākou. No laila pehea ʻoe e koho ai i nā maʻi kahi āu e hoʻokaʻawale ai? He mea paʻakikī loa iā mākou ke hōʻoiaʻiʻo no ka mea ʻo kēlā me kēia keiki a mākou e hālāwai ai ua kokoke i ka lālani make.”

Ke kūkākūkā nei ʻo Neela me ka FDA pehea e hoʻolālā ai i kahi hoʻokolohua lapaʻau hope loa a mālama i kekahi mau maʻi maʻi Batten hou ma o ka hāʻawi ʻana i ka lāʻau i loko o kā lākou spinal cord a pololei i ko lākou maka. Hoʻolālā ʻia ke ala no nā poʻe maʻi i ʻike mua ʻia e waiho ʻia kahi ʻike. Ua hōʻike ʻo Meyer i ka manaʻolana e loaʻa i kāna ʻoihana ke ala maʻalahi ma mua o Amicus.

“Me he mea lā ua hoʻoikaika nui ʻia ka FDA e kākoʻo i nā papahana maʻi maʻi,” wahi āna.

E like me nā mākua he nui o nā maʻi maʻi maʻi, ua hoʻoholo ʻo Stecker. “ʻAʻole,” wahi āna, “ʻo ia wale nō ka hoʻomaka mua.” ʻO Craig Benson, ka luna o ka Beyond Batten Disease Foundation, ua wehewehe ʻo ia iā ia he “ikaika o ke ʻano” a “he kākoʻo luhi ʻole.” Ua kamaʻilio ʻo Stecker i nā mea a pau mai Janet Woodcock lāua ʻo Scott Gottlieb, ʻelua mau luna FDA kiʻekiʻe, iā Tim Yu, he neurologist ma Boston Children’s Hospital nāna i hana i kahi lāʻau lapaʻau no kahi kaikamahine i kapa ʻia ʻo Mila me ka maʻi Batten. Ua hele ʻo ia a me kāna kāne i ka ʻāina, e hele ana i 34 mau huakaʻi i ʻehiku mau keʻena olakino i hiki i nā kauka ke loiloi iā Wheeler. Ua hoʻohana lākou i mau kaukani mau hola i ka noiʻi ʻana i ka maʻi, ke kāhea ʻana i nā mākua a me nā loea a me ka hoʻopaʻapaʻa ʻana me nā hui ʻinikua e uhi i nā lāʻau lapaʻau.

“Ke manaʻo nei au ʻaʻohe pōhaku i hoʻohuli ʻole ʻia,” wahi āna.

Hoʻomaopopo ʻo Meyer ʻaʻole e ola ka lāʻau lapaʻau no ka maʻi Batten inā ʻaʻole no nā mākua i ʻike i nā ʻepekema, hoʻonui i ke kālā, hoʻoikaika i nā hui a komo i ka politika e kōkua i ka hoʻololi ʻana i nā lula.

“He mea kupaianaha ka mea a lākou e hana ai a hoʻomanawanui a mahalo hoʻi i ka mea hiki iā lākou ke hoʻokō no ka mea ʻaʻole lākou e lawe i ka pane,” wahi a Meyer ma kahi leka uila. “Pono lākou i ka mahalo nui. Akā, ʻaʻole pono pēlā. He paʻakikī ke mālama i kēia mau keiki maʻi.”

Ua hoʻohiki ka FDA e hoʻomaha i nā lula e pili ana i ka hoʻomohala ʻana i nā lāʻau lapaʻau no nā maʻi laha. Akā ʻo ka hōʻoia ʻana he palekana a maikaʻi hoʻi ka mālama ʻana i nā miliona miliona. He mau makahiki ia, ʻaʻole i loaʻa hou i ke keiki a Stecker.

Huli ʻo Wheeler i ka 8 o Mei. Makemake ʻo ia i ka piʻi, lele, alualu ʻia a pāʻani peʻe a ʻimi. Akā ua kamaʻilio ʻo Stecker i nā mākua o nā keiki ʻē aʻe me ka maʻi. ʻIke ʻo ia i nā mea e hiki mai ana.

“ʻO nā mākua i hele i kēia ala ma mua o ʻoukou ka mea ʻike nui loa,” wahi āna.

Ua hoʻomaka nā hōʻailona. Hele pinepine ʻo Wheeler i kēia manawa a ʻaʻole holo hou i kāna scooter a puni ka cul de sac ma muli o kona ʻano ʻino a me ka maikaʻi ʻole o ka hoʻonohonoho ʻana. Ua emi kona mau akamai kaʻa maikaʻi a hiki i ka hoʻohana pinepine ʻana i kona mau lima e ʻai. Loaʻa iā ia kekahi hiʻohiʻona peripheral, akā ua emi nui kona ʻike kikowaena me he mea lā e nānā ana ʻo ia ma kahi mauʻu. No ka nānā ʻana i nā kiʻiʻoniʻoni Disney, kū ʻo ia i ʻeono iniha mai ka TV. Ua kau kona mau mākua i nā hōʻailona ma kahi kokoke i ko lākou home e heluhelu ana “Person with disability area” e pale aku iā ia inā holo ʻo ia i waho o ka hale a ʻaʻole hiki ke ʻike i nā kaʻa. He ʻulaʻula a puni kona mau maka mai ka hamo ʻana iā lākou a ʻike maikaʻi. No ka pale ʻana iā ia mai ka makapō loa, pono paha ʻo Wheeler e mālama ʻia i ka hopena o ka makahiki, wahi a Stecker.

“ʻO ka maʻi,” wahi āna, “ke emi nei kona honua.”

I ka hala ʻana o ka manawa, nalowale nā ​​​​maʻi maʻi Batten i ka hiki ke ʻōlelo a ale.

“ʻO ka manaʻo e hoʻomanawanui ʻo ia i kēlā mau mea weliweli a pau i ka pōʻeleʻele, me ka ʻike ʻole i ka helehelena hōʻoluʻolu o kona mau mākua, he mea ʻeha ia iaʻu,” wahi a Stecker.

Hoʻolauleʻa kona mau mākua i nā lanakila liʻiliʻi. Ua aʻo ʻo Wheeler i ka helu ʻana i ka 10. Ma hope o hoʻokahi makahiki o ka hoʻomaʻamaʻa, hiki iā ia ke kākau i kona inoa mua. Inā hiki i ka gene therapy ke mālama i kona hiki ke ʻike i ka mālamalama a hoʻopaneʻe paha i kahi paipu hānai, e lawe kona mau mākua.

“ʻAʻohe mea e ho’ōla iā Wheeler,” wahi āna. “ʻO kaʻu e makemake ai i kona manawa i waiho ʻia ma ka honua e ʻoluʻolu e like me ka hiki.”

No ka hana ʻana, ʻōlelo ʻo ia, pono ka FDA e ʻae i kekahi pilikia.

“ʻO ka hoʻokomo ʻana i kēia ʻano lāʻau lapaʻau i loko o kona maka e lilo ai kona maka,” wahi a Stecker. “E noʻonoʻo ʻoe he aha? E nalowale ana kona maka. No laila, no ke aha e lawe ʻole ai i kēlā pilikia?”