Newborn twin boys with the same rare genetic 病気 that killed their older brother get '権利-to-try' 治療 - but almost 行方不明になるd the window 予定 to 政府 持つ／拘留する-ups and the polar vortex

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Alyssa ツバメ's twin sons, Charlie and Kolton, were born in December with the rare, 致命的な genetic Menkes 病気.?

It's a 悲劇の instance of deja vu for Alyssa, who lost her first son, Dylan, to the same 病気 a １０年間 ago.?

With Charlie and Kolton, however, Alyssa knew they had the 病気 by the time she was 21 weeks 妊娠している. She was 武装した with knowledge that, if they got it in time, an 実験の 治療 might save the twins.?

And, with five months to go before her 予定 date, it seemed that time was on Alyssa's 味方する.?

But working against her and the 医療の team that quickly pulled together for Charlie and Kolton were a 絡まる of regulatory 行き詰まり，妨げるs, a 議論の的になる new 法律, an impossibly tight timeline and a polar vortex.?

Twins Charlie and Kolton ツバメ を煩う Menkes 病気, the same 相続するd neurodegenerative 病気 that killed their older brother at just two a １０年間 ago. Through the '権利-to-try' 法律, they have started an 実験の 治療, but received it at the very last moment?

With the prospect of a new child (or two, or more) comes endless questions about who and how they will be and gleeful 予期 of 会合 them - but it's also harrowing for every 推定する／予想するing mother.?

But as soon as Alyssa 設立する out she was having not one, but two boys, she had a unique and 墓／厳粛／彫る／重大な 関心.??

Hidden in Alyssa's genetic code is a defect that has no meaningful 影響 on her.?

But she carries a 突然変異 that 原因（となる）s Menkes 病気 on one of her X 染色体s.?

Since 女性（の）s have two X 染色体s, the second copy of the 遺伝子 無視／無効s the broken one in Alyssa and her healthy four-year-old daughter, Natalie.?

Boys, on the other 手渡す, have just one X 染色体 (and one Y), so their chances of having any 病気 carried on it are far higher.??

Neither Alyssa, nor her doctors, knew or had any 推論する／理由 to 嫌疑者，容疑者／疑う this when she was 妊娠している with her first child, Dylan, over a １０年間 ago.?

For the first three months of his life, Dylan seemed like a typical newborn boy, with the possible exception of his fair, brittle hair.

But suddenly he started 苦しむing seizures, and soon stopped eating. His bones became even more brittle than his hair.?

Doctors ran genetic 実験（する）s on both Dylan and Alyssa. They discovered the Menkes 突然変異 in Alyssa's genome.??

It's not （疑いを）晴らす how many women carry the unexpressed 遺伝子, but about one third of them have no family history of the 病気, as was the 事例／患者 for Alyssa, she learned after the 可決する・採択するd 36-year-old 跡をつけるd 負かす／撃墜する her 生物学の family.?

In these instances, the 突然変異 is thought to occur spontaneously, によれば the 国家の 学校／設けるs of Health (NIH).?

The 条件 影響する／感情s about one in every 100,000 babies born and keeps the 団体／死体 from 適切に 過程ing and 配分するing 巡査 from food to the 団体／死体 which, in turn, devastatingly 延期するs neurological 開発 and growth.??

There is no 治療 認可するd by the Food and 麻薬 行政 (FDA), but a 2014 熟考する／考慮する 示唆するd that 扱う／治療するing newborns with Menkes by 取って代わるing the mineral using 巡査 histidine therapy within the first month of their lives might 増加する their 生き残り chances.?

Dylan ツバメ died a １０年間 ago, just after his second birthday after 戦う／戦いing Menkes 病気. He was never able to 持つ／拘留する his 長，率いる up on his own, にもかかわらず receiving 治療 at four months?

Alyssa and her doctors didn't realize that Dylan had Menkes until he was already three months old. They started him on the 実験の 巡査 histidine as soon as possible, but he was already four months old.?

にもかかわらず the 治療, Dylan never got strong enough to 持つ／拘留する his 長，率いる up, stopped eating by the time he was five months old, and spent the 残り／休憩（する） of his short life on a feeding tube.?

結局, he couldn't even breathe without a 呼吸器械. Dylan hung on until his second birthday, but died すぐに thereafter.?

When she 設立する out that the twin boys she was carrying had the same 病気 that took their older brother from her, Alyssa was '荒廃させるd,' she told Daily Mail Online.?

'I started crying and [mentally] went straight 支援する to my first one that passed away from it and thought worst 事例／患者 rather than thinking more 前向きに／確かに about how the 結果 should go.'?

But, Alyssa gathered herself, and decided to use the advantage of an earlier 警告 to make sure that her sons got the best chance they could - even as she was 準備するing herself for the worst.??

That meant scheduling an 任命 with a geneticist, Dr Amy Calhoun, and getting her sons 巡査 histidine as soon as possible.??

For a 2014 熟考する／考慮する, NIH 研究員s started giving 35 babies born with Menkes 注射s of 巡査 histidine within their first month of life, and compared how they 進歩d to a group of babies who didn't start the 治療 until after their symptoms began.?

They followed the children through age three. The ones that got the 治療 before their symptoms appeared fared better: 71 パーセント 生き残るd those three years, their 長，率いるs grew more and their cognitive 開発 was measurably better.?

Only 50 パーセント of the 支配（する）／統制する group 生き残るd those first three years.?

巡査 histidine certainly wasn't a sure-解雇する／砲火／射撃 cure, but certainly 申し込む／申し出d some hope, 特に if babies got it 早期に.?

There was no way of knowing if Dylan got the 実験の 治療 too late, or if it 簡単に didn't work.?

So Alyssa and Dr Calhoun quickly got to work 人物／姿／数字ing out how to get Charlie and Kolton the 治療 as soon as possible.?

The FDA has not yet 認可するd 巡査 histidine - nor anything else - as a Menke s 治療. And there weren't any 現在進行中の 臨床の 裁判，公判s to 入会させる the boys in.??

Menkes strikes boys almost 排他的に, and they are often born premature, with very fair, brittle hair like Kolton and Charlie have?

In January of last year, the いわゆる '権利-to-try' 法律 was passed, creating a pathway for terminally-ill 患者s to try 実験の 治療s before the FDA has 認可するd them.?

It was touted by 大統領 Trump, has been seen with 懐疑心 by doctors and 患者 支持するs worried it will just be a boon for selling bad science to 攻撃を受けやすい 患者s, and met with 感謝 - and then 失望／欲求不満 - by 患者s who 猛烈に 手配中の，お尋ね者 the 権利 to try any 治療, then still struggled to 現実に get any.?

For the ツバメ family, it was the only hope.

Even then, the タイミング was bad. Charlie and Kolton were born seven weeks 早期に on December 17 - just before the holidays and (突然に) the 政府 shutdown.?

Because the boy s had been born premature, doctors decided they should wait a little while to 星／主役にする the 集中的な therapy, but, still, the clock was ticking, and Dr Calhoun 緊急発進するd to 完全にする an 使用／適用 on the ツバメ twins' に代わって, Stat News 報告（する）／憶測d.?

In the end, it wasn't even holidays or the 政府 shutdown that 延期するd the 是認 and 配達／演説／出産 of the 治療. It was more bad タイミング, によれば Stat.?

Dr Calhoun and Alyssa's 使用／適用 happened to 同時に起こる／一致する with a sort of changing of the guard. The? NIH was 手渡すing the oversight and 熟考する／考慮する of 巡査 histidine over to a 私的な company, 原因（となる）ing a bit of a paperwork 嵐／襲撃する.?

一方／合間, another 嵐／襲撃する was brewing, and 気温s across the US, 含むing in the ツバメs's home 明言する／公表する of Iowa, were dropping far below 無, meaning the 特使 meant to 配達する the 治療 was called off the 職業 the day it was finally 始める，決める to arrive.?

In the 合間, Dr Calhoun made a snap 決定／判定勝ち（する） to start the twins on 巡査 chloride, which could - and did - 原因（となる） painful welts at the 注射 場所／位置s, ーするために start getting their 巡査 levels up.?

Alyssa and the boys' doctors won't know if 治療 is working for another couple months, but she says that they have had 約束ing 伸び（る）s in their 巡査 levels?

'It was 肉親，親類d of 拷問,' Alyssa said.?

'They have to have [巡査 histidine] in the first 22 days or so for it to be most 効果的な, and we kept bumping the day [to start histidine 治療] 支援する, and they were so little we thought it'd be okay to just get their levels up, but as we got to those numbers like 28 days, it was real の近くに.'?

Finally, last week, the histidine arrived, and Alyssa started giving each of her sons two daily 注射s.?

So far, Charlie and Kolton seem to be doing remarkably 井戸／弁護士席. Their 巡査 levels have 発射 up to where the doctors hoped to see them. They cry for 瓶／封じ込めるs and gulp 負かす／撃墜する milk, and neither has had any seizures, a ありふれた first 調印する.?

Alyssa is 希望に満ちた, but always watchful and 用心深い.?

'They're still 肉親，親類d of young, so we 港／避難所't seen any changes yet,' she says.?

'It usually takes about three months when [changes] start showing up. I'm hoping for the best, but still watching to see if they have any seizures.'?

Most likely, the boys will have to remain on the 巡査 治療 for the 残り／休憩（する） of their lives, if it 作品.?

Alyssa hopes they might a have a 発射 at a normal life, but for the moment, she'll settle for simpler goals.?

'My son [Dylan] could even 持つ／拘留する his 長，率いる up, and I want that [ability] for these ones,' she says.???????