He aha ka Timothy Syndrome? Loaʻa i kāu keiki kēia mau hopena? E kamaʻilio kākou!

Ke hopohopo nei ʻoe no ka pilikia o ka puʻuwai o kāu keiki liʻiliʻi, a i ʻole kahi loli i ko lākou helehelena a i ʻole ka ulu ʻana? I kekahi manawa, ʻo ke kumu nui paha he maʻi genetic i lohe ʻole ʻia e mākou. ʻO kekahi maʻi kakaikahi akā koʻikoʻi e ʻike ai ʻo ia ka maʻi Timothy. I kēia lā, e kamaʻilio maʻalahi mākou e pili ana iā ia, ma ke ʻano hiki iā ʻoe ke hoʻomaopopo.

He aha ka maʻi Timothy?

I ka ʻōlelo maʻalahi, he maʻi genetic kakaikahi loa ka maʻi Timothy. Hiki iā ia ke hoʻopilikia i ka puʻuwai o kāu keiki, ke ʻano, ka ʻōnaehana nerve, a me ka ʻōnaehana pale . Hiki ke ʻokoʻa nā hōʻailona, ​​a hiki i kekahi mau keiki ke loaʻa nā pilikia puʻuwai e hoʻoweliweli i ke ola.

ʻO wai ka mea e loaʻa ai kēia? Pehea e hoʻoilina ʻia ai?

I kēia manawa ke noʻonoʻo nei paha ʻoe, 'ʻO wai ka mea i loaʻa i kēia?' He maʻi hoʻoilina ʻo Timothy syndrome, no laila hiki i kekahi ke loaʻa. Penei ka hana ʻana:

• ʻO ka maʻamau, pono i ke keiki ke hoʻoilina i ke kūlana mai hoʻokahi makua wale nō, i kapa ʻia he hoʻoilina autosomal dominant.
• I kekahi manawa, he mea kupanaha, hiki i kahi keiki ke hoʻoilina i ke kūlana mai kahi makua asymptomatic. ʻO kēia no ka mea aia paha ka gene i hoʻopilikia ʻia i loko o kekahi mau cell o ke kino o ka makua, ʻaʻole i loko o nā cell āpau . Ua kapa ʻia kēia he kūlana 'mosaic'.
• Eia nō naʻe, ma muli o ke koʻikoʻi o kēia mau hōʻailona, ​​he mea kakaikahi loa i kahi kanaka me Timothy syndrome ke hoʻoili i kēia gene i ka hanauna e hiki mai ana.
• ʻO ka hapa pinepine, hiki mai kēia ʻano ma muli o kahi ʻano hoʻoilina hou, me ka ʻole o ka mōʻaukala ʻohana . ʻO ia hoʻi, ma muli o kahi loli hoʻoilina hou.

Pehea ka maʻamau o kēia?

Ke noʻonoʻo ʻia kona ʻano maʻamau, he maʻi laha ʻole loa ʻo Timothy syndrome. ʻAʻole i ʻoi aku ma mua o 100 mau kānaka ma ka honua holoʻokoʻa i ʻike ʻia he loaʻa iā ia. No laila, ʻaʻole nui ka kamaʻilio ʻana.

He aha nā hōʻailona o ka maʻi Timothy?

Hiki ke ʻokoʻa kēia mau hōʻailona mai kekahi keiki a i kekahi, a hiki ke ʻokoʻa ke koʻikoʻi o nā hōʻailona. Loaʻa paha i kāu keiki kekahi mau hōʻailona, ​​akā ʻaʻole paha iā lākou kekahi. Hoʻopilikia nui kēia mau hōʻailona i ka puʻuwai, ke ʻano o ke kino, a me nā hana kino ʻē aʻe .

Nā hōʻailona e hoʻopilikia ana i ka puʻuwai

ʻO nā hōʻailona e pili ana i ka puʻuwai ka mea nui e makaʻala ai, no ka mea, hiki i kēia mau mea ke hoʻoweliweli i ke ola.

• E ʻike paha ʻoe i ka puʻuwai wikiwiki a kūpono ʻole paha (palpitations) ke kau ʻoe i kou lima ma ka umauma o kāu keiki.
• Ka nalowale koke o ka ʻike (syncope) .

ʻO kēia ma muli o:

• He hoʻomaha lōʻihi ma waena o nā puʻuwai. Ua kapa ʻia kēia e nā kauka ʻo 'prolonged QT'.
• Hiki i ka maʻi puʻuwai hānau (kahi kīnā i ke ʻano o ka puʻuwai i loaʻa i ka wā hānau) ke hoʻopilikia i ka hiki o ka puʻuwai ke pamu i ke koko.
• ʻO ke ʻano puʻuwai kūpono ʻole (arrhythmia) .
• Hoʻopaʻa wikiwiki loa nā keʻena haʻahaʻa o ka puʻuwai (ventricles) (`ventricular tachycardia`) . He mea weliweli loa kēia.

E hoʻomanaʻo, hiki i kēia mau hōʻailona pili i ka puʻuwai ke hoʻoweliweli i ke ola . Pono ʻoe e makaʻala loa i kēia no ka mea hiki ke alakaʻi i ka hopu koke ʻana o ka puʻuwai (cardiac arrest) a i ʻole ka make koke.

Nā ʻano e pili ana i ke ʻano o ke kino

Loaʻa i nā keiki me Timothy syndrome kekahi mau ʻano kino kūikawā i ʻike ʻia i ka wā hānau:

• Ua hui pū ʻia ka ʻili ma waena o nā manamana lima ('cutaneous syndactyly`) . E like me ko ka ʻiole. Hiki ke loaʻa ma nā lima ʻelua a me nā wāwae.
• Ka palahalaha ʻana o ke alahaka ma waena o nā puka ihu .
• Ua hoʻohaʻahaʻa ʻia nā pepeiao ma mua o ka maʻamau .
• Ka ʻūpā ʻana o ka ʻāwae luna .
• Ka lahilahi ʻana o ka lehelehe luna .
• Ke wili ʻana o nā niho a me ke kekee .
• ʻAʻohe lauoho, me he mea lā he ʻōhule i ka wā hānau .

Nā hōʻailona e pili ana i nā ʻōnaehana kino

Hoʻopilikia pū kēia ʻano i nā ʻāpana o ka lolo o ke keiki e kāohi ana i kekahi o nā ʻōnaehana o ke kino. No laila, hiki iā ʻoe ke ʻike i nā hōʻailona e like me:

• Nā lohi o ka ulu ʻana a me nā pilikia me ka hana noʻonoʻo . Hiki ke lohi ka kamaʻilio ʻana a me ka hele wāwae ʻana i hoʻohālikelike ʻia me nā keiki ʻē aʻe.
• Nā maʻi pinepine . Ma muli o ka pale ʻana haʻahaʻa, laha maʻalahi nā maʻi.
• Haʻahaʻa ke kō koko (hypoglycemia) .
• Ka emi ʻana o ka mahana o ke kino (hypothermia) .
• Nā hopu ʻana o ka epileptic (hiki ke kapa ʻia kēia he epilepsy a i ʻole epilepsy photosensitive) .
• Paʻakikī ke kamaʻilio ʻana a me ka launa pū ʻana me nā poʻe ʻē aʻe (maʻi autism spectrum) . Manaʻo paha lākou aia lākou i loko o ko lākou ao ponoʻī.

He aha ke kumu o ka maʻi Timothy?

Inā mākou e nānā i ke kumu o kēia, ua hoʻokumu ʻia ka maʻi Timothy e kahi ʻano genetic a i ʻole mutation i loko o ka gene `CACNA1C` . Kuhikuhi kēia gene iā mākou e hana i kahi protein e lawe ana i nā ion calcium i ko mākou mau cell puʻuwai (cardiomyocytes) a i ko mākou mau cell lolo (neurons).

E noʻonoʻo, ua like ka protein i hana ʻia e ka gene `CACNA1C` me ka puka. Wehe a pani kēia puka, e ʻae ana i nā ʻātoma calcium e komo a puka i waho o ke kelepona. Ke loaʻa kahi hoʻololi genetic, e noho hāmama ana kēia puka me ka ʻole o ka pani pono ʻana . A laila kahe mau ka calcium i loko o ke kelepona. Ke hōʻiliʻili ʻia kēia calcium keu, ʻike ʻia nā hōʻailona o ka maʻi Timothy, a ʻaʻole hana pono kekahi o nā ʻōnaehana o ke kino.

He mea nui loa kēia mau ʻātoma calcium no ko mākou kino:

• E kāohi i ka hana uila o nā pūnaewele.
• Hoʻokaʻaʻike nā pūnaewele kekahi i kekahi.
• Kōkua i ka ʻūmiʻi ʻana o nā ʻiʻo.
• Kaohi i nā genes e pili ana i ka ulu ʻana o ka lolo a me ka iwi i ka wā embryonic.

Pehea e ʻike ai nā kauka i kēia?

Hiki ke ʻike ʻia ka maʻi Timothy ma mua a ma hope paha o ka hānau ʻana .

• I ka wā o ka nānā ʻana i ka ultrasound ʻoiai ke pēpē i loko o ka ʻōpū , e nānā ke kauka e ʻike inā he maʻamau ka puʻuwai o ka pēpē. ʻO kahi ʻano puʻuwai ʻē aʻe e pili ana me ka maʻi Timothy he puʻuwai lohi i loko o ka fetus (fetal bradycardia) .
• Ma hope o ka hānau ʻana o ke pēpē, hiki ke hana ʻia kahi hoʻāʻo `EKG` (Electrocardiogram) e nānā i ke ʻano o ka puʻuwai o ke pēpē.

Eia kekahi, kōkua pū kēia mau hoʻāʻo e hōʻoia i kēia kūlana:

• Nā hoʻokolohua genetic e ʻike ai i ka gene e hoʻoulu ai i nā hōʻailona .
• Nā hoʻokolohua kiʻi ʻē aʻe (e.g. MRI, CT scan, X-ray) .
• ʻO ka nānā ʻana o ka cardiologist e nānā i ke olakino o ka puʻuwai .
• He hoʻokolokolo a ka neurologist e nānā i ka hana o ka ʻōnaehana nerve .
• Nā hoʻāʻo koko e ʻike ai inā he mau hōʻailona hou aʻe .

He aha nā lāʻau lapaʻau no kēia?

ʻO ke kumu nui o ka mālama ʻana no ka maʻi Timothy ʻo ia ke kāohi i nā hōʻailona hoʻoweliweli e hoʻopilikia ai i ka puʻuwai :

• Nā lāʻau lapaʻau e kaohi ai i ka helu o ka puʻuwai (e.g. 'beta-blockers') .
• Ke hoʻohana nei i kahi defibrillator cardioverter implanted (ICD) a i ʻole pacemaker . Kōkua kēia i ka hoʻihoʻi ʻana i ka rhythm o ka puʻuwai inā lilo koke ia i mea kūpono ʻole.

Eia kekahi, aia nā lāʻau lapaʻau no nā hōʻailona ʻē aʻe e hoʻopilikia paha i ke keiki:

• Ke hāʻawi nei i nā antibiotics e mālama i nā maʻi .
• He hoʻoponopono ʻoki kino ʻana i nā pipili ʻili ma waena o nā manamana lima .
• E nānā mau i nā pae kō koko .
• Ke kuhikuhi ʻana i nā papahana hoʻonaʻauao kūikawā e kōkua i nā pilikia aʻo o ke keiki .

Aia kekahi mau pilikia i ka mālama ʻana?

ʻOi aku ka nui o ka pilikia o nā keiki me ka maʻi Timothy i nā arrhythmias puʻuwai a me nā pilikia cardiac i ka wā e loaʻa ai ka anesthesia . He ʻoiaʻiʻo loa kēia no nā lāʻau anesthesia e hoʻolōʻihi i ka wā QT. No laila, he mea nui e hoʻomaopopo i kāu kauka e pili ana i kēia ma mua o ke ʻoki ʻana.

Hiki ke pale ʻia ka maʻi Timothy Syndrome?

ʻAʻole hiki ke pale ʻia ka maʻi Timothy.No ka mea, ua hana ʻia kēia e kahi hoʻololi genetic. Hiki iā ʻoe ke hoʻoilina iā ia, a i ʻole hiki ke ulu koke me ka ʻole o ka mōʻaukala ʻohana.

Eia nō naʻe, inā ʻoe e hoʻolālā nei e hāpai a makemake ʻoe e ʻike i kou pilikia o ka loaʻa ʻana o kahi keiki me kahi maʻi genetic e like me Timothy syndrome, hiki iā ʻoe ke kamaʻilio me kāu kauka e pili ana i ka ʻōlelo aʻoaʻo genetic a me ka hoʻāʻo genetic .

He aha ka mea e hana ai inā loaʻa i kaʻu keiki ʻo Timothy Syndrome?

ʻAʻohe lāʻau lapaʻau no kēia maʻi, akā hiki i ka lāʻau ke hōʻemi i nā hōʻailona hoʻoweliweli i ke ola o ke keiki a hoʻomaikaʻi i ko lākou ola .

ʻAʻole maikaʻi ka wānana no nā keiki me ka maʻi puʻuwai koʻikoʻi . Ma muli o nā kūlana e like me nā arrhythmias a i ʻole ventricular tachycardia, ʻo ka pilikia o ka make i ka wā kamaliʻi ma kahi o 80% . He mea kaumaha kēia ke lohe ʻia, akā he mea nui e ʻike i ka ʻoiaʻiʻo.

Eia nō naʻe, i nā hihia ʻoi aku ka koʻikoʻi o Timothy syndrome, ʻoi aku ka maikaʻi o ka hopena .

Pehea ʻoe e mālama ai i kahi keiki me kēia maʻi?

Ma muli o ka hiki i nā hōʻailona o ka maʻi Timothy ke hoʻoweliweli i ke ola, he mea nui e ʻike pinepine i ke kauka o kāu keiki e nānā i ko lākou olakino holoʻokoʻa, ʻoiai ke olakino o ko lākou puʻuwai . Hiki i nā nānā mau ke kōkua i ka ʻike a me ka mālama ʻana i nā hōʻailona hou i ka wā mua.

Inā he lohi ka ulu ʻana o kāu keiki a i ʻole nā ​​pilikia aʻo ʻana, hiki i nā papahana hoʻonaʻauao kūikawā a i ʻole nā ​​​​​​lapaʻau kākoʻo ke kōkua i kāu keiki me nā hana kula .

Āhea wau e lawe ai i kaʻu keiki i ke kauka? He aha kaʻu e hana ai i ka wā pilikia?

Inā loaʻa i kāu keiki nā hōʻailona o Timothy syndrome, e like me ka maʻi, ka paʻakikī i ka mālama ʻana i ka mahana o ke kino, a i ʻole ke kō koko haʻahaʻa pinepine , e ʻike pono i ke kauka.

ʻO nā hōʻailona koʻikoʻi, e like me nā hopu ʻana a me ka puʻuwai puʻuwai kūpono ʻole (ʻoi aku hoʻi inā wikiwiki loa ka puʻuwai a i ʻole kūpono ʻole) , hiki ke hoʻoweliweli i ke ola a pono e mālama koke ʻia e ke kauka . Inā hana kēia, e hele i ka lumi pilikia (ER) a kāhea paha i ka 911.

He aha nā nīnau āu e nīnau ai i ke kauka o kāu keiki?

He mea maikaʻi ke nīnau i ke kauka o kāu keiki i nā nīnau penei:

• Aia kekahi hopena ʻaoʻao i ka lāʻau lapaʻau āu i kuhikuhi ai?
• Pono anei kaʻu keiki i ke ʻoki kino?
• Ua lawa ke olakino o kaʻu keiki no ke ʻoki kino?
• Pehea e nānā ai i nā hōʻailona o kaʻu keiki?

Hiki i ka hoʻoponopono ʻana i kahi maʻi genetic laha ʻole ke paʻakikī no nā mākua hou a me kā lākou mau keiki. He mea nui e makaʻala pono i ke olakino o kāu keiki, ʻoiai e ʻike inā ke kāohi nei ka lāʻau lapaʻau i nā hōʻailona a hoʻonui i ka nui o ka manawa e hiki ai i kāu keiki ke noho pū me ʻoe. I kou noʻonoʻo ʻana i ka mālama ʻana i kāu keiki, e noʻonoʻo iā ʻoe iho a me kou ʻohana. He mea nui hoʻi e kamaʻilio me kahi kākāʻōlelo olakino noʻonoʻo kūpono e hōʻemi i ke kaumaha a me ka hopohopo, a e aʻo pehea e hiki ai iā ʻoe ke kōkua i kāu keiki.

E hoʻomanaʻo i kēia mau mea (Leka Lawe-Home)

He maʻi laha ʻole ʻo Timothy syndrome, akā he maʻi koʻikoʻi ka hoʻoilina.

• E makaʻala mau i ia mea, no ka mea, ʻo ia ka hopena nui ma ka puʻuwai .
• ʻOkoʻa nā hōʻailona mai kekahi keiki a i kekahi .
• ʻO ka ʻike mua ʻana a me ka mālama kūpono e hiki ke hoʻomaikaʻi i ke ola o ke keiki.
• He mea nui loa e hahai i ka ʻōlelo aʻo a ke kauka a mai poina i nā hoʻokolohua i hoʻonohonoho ʻia .
• ʻAʻole ʻoe hoʻokahi ma kēia huakaʻi. E kiʻi i ke kākoʻo mai nā kauka, nā kākāʻōlelo, a me nā poʻe aloha .

ʻO ka maʻi Timothy, ka maʻi Timothy, nā maʻi hoʻoilina, nā maʻi puʻuwai, nā maʻi kamaliʻi, nā lohi o ka ulu ʻana, ka gene CACNA1C, nā maʻi laha ʻole