Debbie Dupree's Comments

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At 12:18pm on June 30, 2009, Anita Bullers said…
Hi Debbie,
Just wanted to pop in and say I enjoyed meeting & visiting with you at conference. What a good looking family you have. I hope your trip to Cincy goes well. Erin is looking forward to seeing you there.
At 12:21pm on May 26, 2009, Jean said…
Hey, Debbie, it has been awhile since I have been online and wanted to let you know we won't be able to attend the Georgia Conference as planned. Hate to miss it, but maybe next year. Thanks for the input before and maybe sometime when I am in Dallas, we could meet. Jean
At 9:57pm on May 11, 2009, Julie Garcia said…
Hi Debbie!

I see you were able to put a picture in...that is great. You have a lovely family..
At 11:27pm on April 20, 2009, Char Burke said…
Debbie - Thanks for the email. Here is the article. You can also find it under duplications group site. http://www.ncbi.nlm.nih.gov/pubmed/19206170

Gurvich OL, Maiti B, Weiss RB, Aggarwal G, Howard MT, Flanigan KM.

Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah.

Mutations in the DMD gene result in two common phenotypes associated with progressive muscle weakness: the more severe Duchenne muscular dystrophy (DMD) and the milder Becker muscular dystrophy (BMD). We have previously identified a nonsense mutation (c.9G>A; p.Trp3X) within the first exon of the DMD gene, encoding the unique N-terminus of the 427-kDa muscle isoform of the dystrophin protein. Although this mutation would be expected to result in severe disease, the clinical phenotype is very mild BMD, with ambulation preserved into the seventh decade. We identify the molecular mechanism responsible for the amelioration of disease severity to be initiation of translation at two proximate AUG codons within exon 6. Analysis of large mutational data sets suggests that this may be a general mechanism of phenotypic rescue for point mutations within at least the first two exons of the DMD gene. Our results directly demonstrate, for the first time, the use of alternate translational initiation codons within the DMD gene, and suggest that dystrophin protein lacking amino acids encoded by the first five exons retains significant function.
[Feb 12, 2009 1:14:08 AM] Show Printable Version of Post Send Private Message robin.sharp@javelinsoft.com
At 10:59pm on April 17, 2009, Char Burke said…
Hi Debbie,
I met you at the conference a couple years ago. We spoke and emailed about GH Therapy. I was told that our son didn't qualify for the therapy. It was explained that he has to be 2 standard deviations below the growth curve in order to qualify for it. I know your son had it. Can you explain how you got it to me? Maybe you paid for it out of pocket? If so, can you tell me how much it costs? Anything else you can share about it, would be great.
Thanks.
Char
At 10:02pm on April 3, 2009, Stefanie Killian said…
Debbie,

Just got an update on Shelley. She had a liver transplant. Read the emails below. I cannot find your email address anymore so I am cutting and pasting. Reed's egg hunt is tomorrow.

Stefanie

I am happy to report the best possible news! Right before 5 am this morning, Shelley's transplant surgeon reported that the new liver was in and functioning! She was headed to recovery... and the joyous waiting room emptied to go home and get some rest. She will return to ICU.... they don't expect her to regain consciousness for a few days, and based on the description of the surgery, that's probably an okay thing.

Going to bed myself and will send more details tomorrow (or is it today??), but wanted you to know this good news... As Kelly Secker said this morning, that prayer is some powerful stuff!


Wow... this just keeps getting better and better!
Just back from the hospital, and doctors report that Shelley is doing better than expected. Liver is functioning quite well. The bolt in her will be removed tomorrow, and they plan to keep her sedated for at least the weekend. She will also continue dialysis for two weeks.

I didn't get to see her while there (they were changing the dialysis machine) but by all accounts, she looks amazing for what she's been through.

Greg went home late today to finally get some sleep... hopefully, her parents will follow suit shortly. They are understandably exhausted... but so happy!
At 11:44am on March 31, 2009, Stefanie Killian said…
Luckily that is the only test we have on Friday. We have our anesthesia consult that afternoon. Then we are done for the day.
At 10:47am on March 31, 2009, Douglas Sanchez said…
Debbie,

Yes I have only just made contact with the Killians. Eric and I just made a rush visit to Cincinnati Childrens and missed meeting with them on their way back from San Antonio through Austin area. My wife Michelle and daughter Deanna were able to have them over to the house for an hour or so to visit without totally disrupting their trip back home.

I am sure we will be in touch from this point onward...
At 9:40am on March 31, 2009, Donna Taylor said…
Hey Debbie,
I was so glad to see your name pop up and to hear that Ben is going to be driving!!! How exciting is that! Jordan is still walking, just can't go really long distances. He will be starting high school next year. I have been sharing some of the research news with him...about the dog trials and the nNos. He is optimistic that a cure will be found in time. Every now and then he gets angry about how long it's taking, but overall I think he's handling it quite well. We are all planning to go to Atlanta for the conference. My Dad and Step-Mom live there and we're going to make a little vacation out of it. Hope to see you soon!
Donna
At 9:13am on March 31, 2009, Stefanie Killian said…
We got info later last night that Shelley is in the ICU at Baylor and is doing a little better. I am not really sure what is going on, but will keep you posted.

The stim test is to see if Sam can do the human growth hormone. We will see.

I need to figure out who all needs a biopsy sample. I am thinking Kevin and Lee for sure. We are very curious about what we might find.

Stefanie
At 10:30pm on March 30, 2009, Stefanie Killian said…
Debbie,

I got some sad news today. Shelley White has been very ill lately. Apparantly she is in liver failure and not expected to make it. Reed's egg hunt is this Saturday. I don't know anymore than that. She emailed us a couple of weeks ago and asked if we would be at the hunt. I am so sorry for their family.

I am glad that you will be at the conference this year. I look forward to seeing you again.

Sam is having the stim test done on Friday and a muscle biopsy on Monday. We are having Abbie, Nick and Ben fly up to meet us on Saturday and then we will all fly back together on Monday. I hope is all goes well. I am not looking forward to this visit.

I cannot believe that Ben is driving. He shouldn't be old enough. Where has the time gone?!!!

If you get a chance, will you contact Doug Sanchez on PPMD Community? He lives in Austin and is a new diagnosis. His son is 6. We met his wife last week on our way home from San Antonio. They were able to get their son in to Dr. Wong last week because of a cancellation. I was so glad for them.

Hope all is well with your crew. We are busy with soccer, baseball, horseback riding and life!

Stefanie
At 9:35pm on February 20, 2009, Tanya Fleming said…
Please Post a Picture
At 10:45pm on January 12, 2009, Jean said…
Hey, Debbie- My daughter-in-law has finally joined the PPMD family, and hopefully, she will become active and enjoy the companionship and help that is so unselfishly offered by you and everyone here.
going to try and get genetic testing on Peyton soon. While in Dallas, my daughter and I went and saw the King Tut exhibit at the Museum of Art. Fantastic! You ought to try and see it!
Best to you and your family-Jean Burns
At 11:36pm on January 2, 2009, Jean said…
Debbie - I was in Rockwall last week visiting with my daughter and family and Stefanie and John took the time to meet with me and give me LOTS of wonderful information and then went on to make some contacts for me. PPMD is so fortunate to have them and their wonderful family and I feel blessed to know them. Hope 2009 is good to you. Jean
At 9:37pm on September 7, 2008, Karen Barnett said…
Hi Debbie,
Do you by chance have Eileens number? She gave it to me a while back but I can't seem to find it now. My email is karenhowell9@peoplepc.com
Thanks!
At 9:32pm on August 4, 2008, Stefanie Killian said…
Debbie,

We really missed you at the conference this year. I am glad that you were able to spend time with you family though. I have been thinking about you lots lately. Call me sometime and we can catch up.

Stefanie
At 6:37pm on July 8, 2008, Julie Garcia said…
Hey,

I hvae been trying to stay in touch and maybe this will be a good way to keep in touch. We never have enough time at the conferences to visit like we want. Yes, I will be attending the conference.

Also, I will be talking to some people from Santhera. I have always stayed in touch w/Thomas Meier since the cab ride.

I will share more later and wish you all the best!

Take care,

Julie
At 11:47am on July 7, 2008, Neil Brandom said…
Yes, the travel wheelchair is an Invacare ATM. It is not as robust as a normal wheelchair but worrks pretty good and we find it invaluable for occasional plane travel. Best wishes, Neil
At 11:45pm on July 1, 2008, Sarah Combs said…
Debbie - I don't know if you remember me, but we met at a MDA Duchenne Research Seminar at Children's Medical Center about two years. I was expecting at the time and my son Baden was then 5. He is now 7 and Porter is almost 20 months (he also has Duchenne). I remember thinking that you were such a wealth of knowledge. I'm glad to have found you here and can hopefully get to know you better. Although I still feel like a newbie at being a Duchenne mom, I become more and more educated everyday. Good to catch up with you again.
Sarah Combs
At 6:27am on June 28, 2008, Julie Garcia said…
Debbie,

I think we met at the PPMD conference a couple of times. In fact, my first year I believe we shared a cab ride back to the airport, you, me, my mother in-law and one of the speakers. Was that you?

I live in Sacramento, CA

Take care,

Julie

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