Our Fight against Gaucher's Disease type 2 or 3
After getting back from a wonderful week-long vacation away from Gaucher’s disease, therapies, and the stresses of researching to find who is working on understanding Hannah’s condition, I came home to read about little Maddie Spohr. My heart is breaking for Heather, Mike, and their families and friends.
Be at Peace, Maddie. Please take a moment to share your support.
Tomorrow is our last full day of vacation here in beautiful Southern California. It has been a nonstop week of activity, and it has been such a great trip so far. Easter egg hunts, Passover dinner, my parents party where I was able to catch up with a few old dear friends I haven’t seen in many years, swimming, etc. Just a wonderful (and exhausting) trip.
I always took tons of photographs before Hannah. I think part of the reason I started taking so many photos once we brought Ethan home was partly out of guilt (since we missed his first 14 months) and partly because my memory really sucks. Friends and family mention stories that I was involved with and say “don’t you remember when…?” Honestly, sometimes I don’t. At least with pictures, I have a “hard copy” of that moment in time and will always be able to relive it and remember it.
I think I have taken over 250 pictures this trip so far, and we still have Disneyland left to go tomorrow, our last full day here. Of course, about half of those will be junked pictures. You know, back of someone’s head because they moved, blurry, etc. But I will have dozens of wonderful photos of this trip with all three kids.
It’s funny. Well, “funny” is not quite the term I mean. But I find it very ironic that I am so determined to get these pictures with me included in them even though I am at my “least attractiveness” in terms of how I feel about myself, especially my weight since I am at my highest weight ever. I look at all those pictures, and I have two feelings about them. 1] At least I was a part of that moment and that my kids can see who I was, and 2] OMG, do I really look that huge! It is like a double-edged sword, you know?
After looking through the pictures on the camera tonight, I realized what wonderful memories I collected just from this trip. Memories I hope never to lose, good or bad. Even photos to motivate me to take care of myself better. I can’t wait to download them and share (most of) them!
It is kind of surreal being back in the house that I grew up with from the time I was 5 until the time I left for college (and for a brief stint after the Northridge earthquake of ’94 after I lost my apartment). Even though I haven’t been here in one year, it always feels like I have never left, and you go right back into that same routine.
Our visit so far has been a good one, with the expected hiccups along the way. Ethan broke his glasses two days before we were to leave, but he didn’t tell us until I just happened to notice the tape on the side during the fundraiser the night before. So, we were able to go to a one-day place, and we bought him a new pair of glasses here.
Abigail was really cute last night at the Seder. I think she developed a little crush on my 20-year-old cousin. She would not leave him alone! It was adorable. She even said that he was “cuter” than her “boyfriend” in preschool. Where does a 5-year-old pick up on this stuff?
Hannah hasn’t been herself yet. I miss my happy-little-baby. I think the combination of having a cold, an ear infection, jet lag, many new people in three days, and not being at home in her routine has gotten to her. With the exception of me and Daddy (and our kids), she just doesn’t want anyone to hold her or even play with her unless we are around. I think she has cried more in the past three days than she has since she was born!
Today is a mellow day, which is good. I have to run to the store to pick up an outfit for the easter egg hunt at my parent’s golf club for tomorrow. I knew there was a dress code, and I got everything for the kids, but I totally forgot to bring something for me. I guess jeans are a no-no there.
I have been neglecting my emails, on purpose, as I am trying to not be so focused on “my mission.” But I do wish I could spend at least an hour or so just reading everything that has come in!
UC and Partners Awarded $23 Million to Transform Discoveries Into Real-World Health Solutions
CINCINNATI—The University of Cincinnati (UC) and its affiliated health care partners will receive nearly $23 million from the National Institutes of Health (NIH) to bring innovations from the laboratory bench to the bedside and to applications within the community.
The five-year funding, awarded through the NIH’s institutional Clinical and Translational Science Awards (CTSA) program, will be used to support programming within UC’s Center for Clinical and Translational Science and Training (CCTST). Established in 2005 as a collaborative effort among UC, Cincinnati Children’s Hospital Medical Center, University Hospital and the Cincinnati Department of Veterans Affairs Medical Center, the CCTST is a research resource and “academic home” for clinical and translational scientists and programs.
UC is the first CTSA to be funded in 2009.
“Bench to bedside (translational research) is a common phrase in medicine, and turning laboratory findings into diagnostic tools or therapies for patients is the goal of academic medical centers,” said David Stern, MD, College of Medicine dean and UC vice president for health affairs. “The CTSA program is a clear recognition by the NIH of the need to speed up the translation of the important work happening at the basic scientific level, and UC’s award is indicative of the quality of scientific discovery happening on our campus and in the labs of our close partners.”
CTSA funding—expected to be given to only 60 institutions nationwide by 2012—will eventually replace the NIH’s General Clinical Research Center (GCRC) program and various other training programs.
UC’s NIH-supported GCRC, housed at Cincinnati Children’s Hospital Medical Center, with a satellite operation at the Cincinnati Department of Veterans Affairs Medical Center, is led by James Heubi, MD, of Cincinnati Children’s and UC’s department of pediatrics, and associate dean for clinical and translational research, and is credited with many research successes. UC faculty and Cincinnati Children’s and VA researchers working in the GCRC have been at the forefront of Reye’s Syndrome and Gaucher disease, and have used novel medications to treat rare diseases such as lymphangioleiomyomatosis (LAM) and Fanconi anemia.
“Successes already realized at our NIH-supported clinical research center are strong indicators of what Cincinnati researchers and clinicians will be able to do with continued support and an emphasis on translational research,” said Heubi, who leads UC’s CTSA effort and the CCTST with Joel Tsevat, MD, professor of medicine and associate dean for clinical and translational research.
Heubi and Tsevat expect to continue what’s been started with the CCTST and initiate additional partnerships that can help bring discoveries to application or engage the broader community in clinical and translational research efforts.
“The formation of the CCTST on UC’s campus more than three years ago has put us in a unique position to hit the ground running with this CTSA award,” says Tsevat. “Beyond serving our Academic Health Center, though, we plan to involve the community in clinical and translational research. Not only will we work to increase enrollment for our clinical studies, but we will also turn to the community for research topics. We envision a bi-directional relationship with the community.”
UC’s CCTST already offers research support, including study design and biostatistical expertise, individual and institutional training grant preparation assistance, clinical and translational research training, and funding opportunities for junior faculty so that they can develop their research programs and become viable candidates for larger awards from the NIH or other sources.
The CCTST has also helped departments obtain NIH training grants to support fellowship positions. Six of the 22 funded “T32” training grants on campus were obtained with CCTST assistance.
In addition to funding assistance, the CCTST—located on the 10th floor of Cincinnati Children’s new “S” building—is working to track clinical and translational activity and create an environment for researchers that facilitates interdisciplinary collaboration. The center’s Research Central service provides investigators with consultations on their study design and execution of research projects.
The center also serves the university’s educational mission—helping to form the recently approved master of science in clinical and translational research program through UC’s environmental health department.
The governance committee leading UC’s CTSA effort includes Stern, Heubi and Tsevat, as well as James Anderson, president and CEO of Cincinnati Children’s; Sandra Degen, PhD, UC vice president for research; Lee Ann Liska, executive director of University Hospital; Linda Smith, director of the Cincinnati VA Medical Center; Arnold Strauss, MD, chair of UC’s department of pediatrics and director of the Cincinnati Children’s Research Foundation; and UC President Nancy Zimpher.
For more information about the CTSA Consortium, visit www.ctsaweb.org. To read more about clinical and translational research at UC, visit www.cctst.uc.edu. A news release from the National Center for Research Resources can be found at http://www.nih.gov/news/health/apr2009/ncrr-07.htm.
We had the fundraiser at Chic-Fil-A tonight. I honestly did not have any clue what to expect. Ethan, Hannah, and I got there at about 4:45 PM, as it started at 5 PM. My friend and neighbor, Christy, met me there, and kept us company and “worked the wheel” (donate a dollar, win a prize) for the first hour. It started off slow, but then around 5:45 PM, things started to pick up.
By 6:00 PMish, it was a completely packed restaurant with at least 1/2 the people coming in carrying the pink or white flyer that was distributed! It was PACKED! We had friends come to support us, at least 1/3 of our street showed up, Ethan’s teacher was there, and Hannah’s developmental therapist even showed up! I also met so many wonderful people who received the flyer from a friend who came to introduce themselves.
It stayed completely packed until we left at 7:00 PMish. We never ended up eating there, so we went through the drive through on the way home. We didn’t stay until the end at 8 PM because Hannah was started to get really tired and a bit stressed out with all the people and chaos. (She did great though considering how many people she saw that gave her hugs and love!).
It was a huge success in my eyes. HUGE! I don’t know how much money was raised, maybe a couple hundred dollars. But the amount of people that turned up just to support us was the biggest success. It must have been at least 50 or so families that came to be there for us because they wanted to be there for Hannah.
I do have pictures to share, but we are leaving for Los Angeles in 7 hours, and I better try and get some sleep!!!
What I thought was going to be a simple 5-minute well-check for Abigail turned out to be a bit more complicated.
Abigail’s ears still look “miserable,” which I knew, so we will likely be having a third tube surgery some time soon. Also, he wants us to get Abigail an abdominal xray when we get back because he thinks she may have encopresis. It all fits, as she has been complaining about “hard poopies” for the past few weeks and she has had some accidents, even just minutes after we ask her if she needs to go potty. So we may be adding some Miralax to her diet.
Our pediatrician also did a quick physical check on Hannah and noticed that she is starting to develop fluid behind her ears again. If this turns into a full-blown ear infection, that will be what, the second one in as many months? She has had a runny nose for the past few days, and if it continues for a couple more days or if she gets a fever or tugs at her ears, he gave us a prescription for antibiotics that we can use while we are in CA. He checked out her spleen and liver, but for the first time, she was pretty uncooperative, as she wasn’t feeling very good. I didn’t get the impression there was any change in the size, however.
So, in the middle of all Hannah’s multitude of tests, we have to add Abigail’s ear tube surgery plus her abdominal xray to this mix. Boy, our insurance company is going to be busy for the next couple of months with u!
Latest Comments