There was a segment on the Sunday Morning Show on CBS this weekend about using gene therapy to treat, or possibly cure, rare genetic disorders. It's absolutely amazing how far modern medicine has come that it's actually possible to remove a person's stem cells, replace the faulty gene and reintroduce the altered stem cells back into the body (via the HIV virus of all things! That part actually makes sense because it spreads throughout the entire body, and they modify the virus to ensure the person is not at risk of AIDS).
It's worth the 9 minutes of your time, so click here to watch it.
Of course, this particular treatment involved traveling to Italy for the clinical trial and returning twice a year for the trial follow-up. And it's absolutely worth it to keep your child safe from the disorder that robbed you of one of your daughters when she was 5 years old. Unfortunately, that clinical trial is no longer accepting new patients, and none are being done in the United States and may not for years to come.
This story makes me wonder if, one day, a similar therapy might be available to remove and replace the PIGN gene in children like Teddy with one that functions normally. Could it happen? Maybe. Could it give these children longer, more fulfilling lives? Maybe. Will it ever happen for Teddy? No, realistically it won't.
But that's OK. The disorder featured in this segment is one of, or similar to, the disorders we were actually warned about before we sequenced Teddy's DNA. We were told we might find out that he has this horrible childhood version of Parkinson's that has no cure and would rob him of every function before taking his life. I think that's part of the reason this story moved me so much, to see parents with fully functioning 2-year-old children lose their children in such a torturous way. Yet, the parents still found ways to move forward, to have a purpose in life. One of the families founded The Calliope Joy Foundation with the sole purpose of helping others with the same disorder that's taking their daughter from them. What strength and grace!
Showing posts with label news. Show all posts
Showing posts with label news. Show all posts
Tuesday, October 25, 2016
Sunday, April 10, 2016
Making News
While we were on vacation, we got a message from our genetics counselor with an odd request (her words, not mine). The local newspaper, the Milwaukee Journal Sentinel, was doing a story on exome sequencing and looking for families to interview. We agreed without hesitation because we want to share Teddy's story and our experience with anyone willing to listen. We feel that sharing our journey could help others facing similar situations.
So, I did about a 30-minute phone interview while heading back to Las Vegas to fly home. We sent them some photos of Teddy late this week and waited patiently for the story to post online yesterday (at 9:30 p.m.)
We were a bit surprised to see this morning that Teddy made the front page of the newspaper, along with a huge family photo with the rest of the story. And one person already contacted me to get more information about the Facebook groups we've found. For me, that makes it absolutely worth including Teddy in the story.
Here's the link to the online version of the article: http://www.jsonline.com/news/health/although-still-in-infancy-dna-sequencing-rapidly-evolving-b99701088z1-375158841.html
There's also an interesting (at least to us) podcast where the reporters share a bit more that's not in the actual story: http://www.jsonline.com/news/wisconsin/behind-the-headlines-308783881.html
The story is a follow-up on a Pulitzer Prize-winning piece done about 6 years ago on one of the first cases of exome sequencing to diagnose and treat an individual, which was done at Children's Hospital. They were pioneers in this type of genetic testing, and the Journal Sentinel covered the story originally and has continued to do follow-up pieces. A book One in a Billion: The Story of Nic Volker and the Dawn of the Genomic Age is being released this week about that first child whose exome was sequenced and the doors it's opened for others like Teddy.
I never thought my child would be on the front page of the largest newspaper in our state, but I'm so excited that his story is being shared with others.
So, I did about a 30-minute phone interview while heading back to Las Vegas to fly home. We sent them some photos of Teddy late this week and waited patiently for the story to post online yesterday (at 9:30 p.m.)
We were a bit surprised to see this morning that Teddy made the front page of the newspaper, along with a huge family photo with the rest of the story. And one person already contacted me to get more information about the Facebook groups we've found. For me, that makes it absolutely worth including Teddy in the story.
 |
| Front page, lead story, charming Teddy. |
Here's the link to the online version of the article: http://www.jsonline.com/news/health/although-still-in-infancy-dna-sequencing-rapidly-evolving-b99701088z1-375158841.html
There's also an interesting (at least to us) podcast where the reporters share a bit more that's not in the actual story: http://www.jsonline.com/news/wisconsin/behind-the-headlines-308783881.html
The story is a follow-up on a Pulitzer Prize-winning piece done about 6 years ago on one of the first cases of exome sequencing to diagnose and treat an individual, which was done at Children's Hospital. They were pioneers in this type of genetic testing, and the Journal Sentinel covered the story originally and has continued to do follow-up pieces. A book One in a Billion: The Story of Nic Volker and the Dawn of the Genomic Age is being released this week about that first child whose exome was sequenced and the doors it's opened for others like Teddy.
I never thought my child would be on the front page of the largest newspaper in our state, but I'm so excited that his story is being shared with others.
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