I was born in Michigan and moved to Texas in 1984. I am a licensed Architect but I have not been practicing for over 10 years. I make jewelry in my spare time (not much lately) and donate the proceeds to organizations supporting Duchenne research. I also enjoy painting, reading and spending time with my family.
About my family:
I have been married to my husband Bob for 22 years. He is a partner in a local architectural firm Gromatzky Dupree and Associates. We have a son Ben, 18 and a daughter Christi 15 (and a Golden Retriever, Mac 1 year old). We live in Dallas Texas.
Name(s) of child(ren)/individual(s) with Duchenne:
Ben 18 non-ambulatory, but able to transition independently ( Intron 47 mutation )
Age(s) of child(ren)/individual(s) with Duchenne:
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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.
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
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.
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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.
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.
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!
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...
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!