Horrible Family News Yesterday

[_Jesse Pinkman]

Kevin, my thoughts and prayers continue to be with you and your family during this time. Please keep us updated, and know that you have lots of love and prayers coming your way.

[_Kevin Graham]

My niece Layla was in the local news recently for those interested.

http://www.10tv.com/article/nch-patient ... en-disease

[_DrW]

My niece Layla was in the local news recently for those interested.

http://www.10tv.com/article/nch-patient ... en-disease

Great to hear this. Thanks for the update.
Layla is an adorable little girl. I would say that she is as fortunate to have such a family as they are to have her.
____________

(Might want to edit the thread title to make it a bit more hopeful now.)

[Guest]

It's a terrible diagnosis made worse by the fact there is nothing they can do but watch her suffer.

That just adds to the tragedy and helplessness for all involved.

If they just found this out, I wouldn't stop with one doctor's diagnosis. I would be searching and looking for second, third, and fourth opinions. As well as alternative treatments and therapies. Her condition is so rare, there likely isn't going to be the expenditures involved for finding cures. Doesn't mean there won't or isn't already some breakthrough science waiting to be discovered.

Where there is life there is hope.

Remember AIDS was once a death sentence. Isn't anymore. People with AIDS are now able to live long lives with proper treatment and medication.

[_Philo Sofee]

that's awesome Kevin!

[_Kevin Graham]

It's a terrible diagnosis made worse by the fact there is nothing they can do but watch her suffer.

That just adds to the tragedy and helplessness for all involved.

If they just found this out, I wouldn't stop with one doctor's diagnosis. I would be searching and looking for second, third, and fourth opinions. As well as alternative treatments and therapies. Her condition is so rare, there likely isn't going to be the expenditures involved for finding cures. Doesn't mean there won't or isn't already some breakthrough science waiting to be discovered.

Where there is life there is hope.

Remember AIDS was once a death sentence. Isn't anymore. People with AIDS are now able to live long lives with proper treatment and medication.

They had too many opinions before the genetic test was done, and it is pretty much definitive. The issue as I understand it is that everyone has a gene that works as a garbage disposal of sorts, to dispose of all the cellular "garbage" that naturally occurs in the body. Layla lacks that gene, and so all the garbage gradually builds up in her system causing various functions to shut down over time.

The only known treatment is what they're doing now, which is cutting edge. I think it began in Germany and now being tested here at Nationwide Hospital in Columbus. It basically pumps enzymes directly into her brain to and the hope is that they will act as a garbage disposal for her cells. For the first year the results weren't promising. She was constantly suffering from fevers, staff infections from all the surgeries, and she didn't appear to be improving. In fact her last words were in April of 2015. She hasn't spoken since. But lately she does appear to be doing somewhat better. Her eye coordination is improved, she is at least trying to talk, and she is able to walk with a higher degree of success than before.

Typically early symptoms include blindness and so we're really hoping the enzymes prevent this from happening. No one with Battens has ever lived past the age of 12. If this treatment continues to work as hoped for, this is going to be a very big deal.

[_Tator]

It is great news. She is a beautiful little girl. Blessings and hope for the best. This case seems to me to be cutting edge in the treatment of this disease. There are so many new things coming out in genetic research and treatment. I was blessed with some cutting edge genetically developed medicine to deal with tumors growing on my adrenal glands in 2003 or I wouldn't be here. Praying for you all.

[_Kishkumen]

I dearly hope the new treatment is effective.

[_Jersey Girl]

Encouraging news! I loved seeing her friends play with her. Oh my heart!

[_Res Ipsa]

Thanks for sharing the good news. I hope the news stays good.