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Please help support the OI Foundation and their on-going research for a cure. Below is a brief explanation of what this disease is, my daughter's story and donation options.
Thank you in advance for helping us find a cure.

~Osteogenesis Imperfecta Basics~
~Katrina's Story~
~Current Research~
~Make A Donation~

~Osteogenesis Imperfecta Basics~
Better known as "Brittle Bone Disease"
When you see the words "Brittle Bone Disease", you automatically think it just affects the bones, but in fact this disease affects most of the body. It can affect teeth, ligaments, tendons, eye sclera, muscles, and more. This disease causes short stature in most types due to bowing of the bones from breaking them. Most children born with this disease can have other complications such as: hydrocephaly, plagiocephaly, respiratory failure or complications, a weak immune system and more. In some types like type II (Most severe) and type III (severe), some do not live due to these complications. Most of type II children usually pass away within the first year, if they make it out of the hospital. There are 5 other types as well, known as Type I (mild), Type IV (moderate), and types V, VI, & VII, in which the causes and severity is still being researched. Osteogenesis Imperfecta can be inherited or it can be a "new" spontaneous mutation. This means everyone in the world has the chance of having a child with OI.
OI has many different mutations, most of which I can not explain, but they all cause different changes in the making of bone. I will only explain one type, in my daughter's story below.
I am including her story only because it better explains what the disease is and how it affects the person who has it.
Thank you for your time.

~Katrina's Story~
I was 20 weeks along and going for my second ultrasound. After the test was done, I waited until my doctor called me in for the results. They saw that her long bones were bowed and shorter than normal. They said that she had some type of skeletal dysplasia and offered me the chance to have an amniocentesis done to confirm which type she had. I had the test and 6 weeks later we found out she had a very severe form of OI. I was 27 weeks along at this point. So of course we were referred to a geneticist and I went online to find out as much as I could about this disease. Thankfully I am an impatient person and looked it up because she was not due until Feb 7th of 2007. She was born via c-section on Dec 18th, 2006. She was 32 weeks gestational age (2 months early). She weighed 3lbs 7oz and was 14.5" long. I wasn't even allowed to see her before they swept her away into the Neonatal Intensive Care Unit (NICU), where she would spend the first 32 days of her life. After assessing her bones, they confirmed that she was Type III Severe. This type is the most severe next to being lethal. In the time she was in the NICU, we as parents, had to learn how to take care of our own child. This was very scary. She was on a respirator for 3 days, she had a gavage tube in her nose/mouth for feedings, and on her 3rd day of life had her very first surgery to place a central line for iv access and blood draws. During a blood pressure measurement her arm was broken, due to the pressure it applied to her. She no longer gets that done. She can not have tourniquet's either (the rubber band used when drawing blood). Two weeks after she came home she was back into the hospital for respiratory distress, from premature anemia, and then again 2 weeks later, from chronic pain. She has hydrocephaly (water on the brain), plagiocephaly (misshapen head), blue/gray sclera (the whites of eyes), and possibly her two front teeth are affected (Dentiogenesis Imperfecta). She has also had chronic MRSA ear infections, due to small ear canals and has had tubes placed in her ears as well. These have not prevented her infections but at least they drain now so I know when she has one. She has had approximately 30 fractures (broken bones) including 14 of which I counted on x-rays at birth. These breaks include the following bones: arm-humorous, ulna & radius in both arms, leg-femur, tibia, fibula in both legs, fingers, toes, ribs, clavicles, shoulder blades, spine and skull. She also has dislocated hips due to malformation of the hip socket from weight bearing limits. She receives a bone treatment by iv every 8 weeks to help prevent fractures. She has both fine and gross motor skill delays, as well as some speech delay due to oral motor delays.
Currently, at almost 2yrs old, Katrina is doing very well. She is starting to weight bear on her legs and hopefully in the next few months, learn to walk. We are also looking into placing rods in her legs to help straighten her bones. She is beginning to talk-she babbles a lot and you can't understand much, but there are some phrases and words that are perfect. We are still incorporating sign language into her speech because there is a chance she may lose her hearing in her teen years. She just started solid foods in March of 2008 and is already eating table foods and drinking from sippy cups and juice boxes. She is now 16lbs 7oz and 2 feet tall. She still rides in an infant seat (to give you a better understanding of her height). She, so far, has no need for any adaptive equipment other than a wheelchair next year for when she enters preschool. Although we have played around with making special low chairs for weight bearing on her legs. Other than a little speed bumps, she is doing wonderful.....but the risk of fracture is on a daily basis with everything she does.
She is by far the happiest child I have ever seen considering the life she has lived and the life she is still dealing with.
Please help my daughter have a life of better quality.
Thank you

(Please see below for information on the research for a cure is and how to donate)

~Current Research~
Gene Targeting: Possible Treatment or Cure for OI

David Russell, MD, PhD, Professor of Medicine and Biochemistry at the University of Washington School of Medicine in Seattle, published an article in 2004 in Science, a peer-reviewed journal. The article described how his work in gene targeting could potentially treat or cure OI. The following interview, excerpted from the Winter, 2007, issue of Breakthrough, describes Dr. Russell's progress since 2004.
OI Foundation: We know gene targeting has great potential to eventually cure OI. What is gene targeting?
Dr. Russell: Gene targeting is the process of introducing genetic changes at a specific chromosomal gene in a cell. Using mesenchymal stem cells (MSCs), we used gene targeting to knock out the mutant collagen gene early in the cell's collagen-making process, so the targeted cell functions normally, producing good collagen.
OI Foundation: How did you develop the gene targeting technique?
Dr. Russell: Our lab developed the gene targeting technique as a way to precisely manipulate human chromosomes. It turns out that OI is the perfect candidate for treatment through gene targeting because in most cases, the OI mutation is dominant, so it can't be treated by adding more of the normal gene. Rather, we need to disrupt the mutant gene. We started by obtaining pieces of bone from teens and kids with OI who were undergoing surgery. Using mesenchymal stem cells from these bone fragments, we were able to successfully target the mutant collagen and knock it out. One of the exciting things about this technique is that we can use cells from the patient's own body (autologous cells). This means we will target a person's own cells and implant the corrected cells back into that person. So there won't be any problems with autoimmune reactions.
OI Foundation: What's happened since you published the Science paper in 2004?
Dr. Russell: We've targeted OI cells and made them produce normal collagen and bone. But we don't know how long this normal collagen production will last. We also can't yet prove that we've made normal bone that is also better bone. So we searched for bigger animal models that could provide larger bones to study.
OI Foundation: Now that you've developed a successful technique for knocking out the OI mutation in collagen genes, what's the next step?
Dr. Russell: This is an exciting time because we are moving out of the test tube and into living bone. The next step is to develop techniques for returning targeted cells to living bones. Using autologous cells, we are testing three different gene delivery methods in rabbits: surgical insertion, intravenous injection, and pre-treating the bone to improve engraftment. Over the next few years we expect to be able to accumulate all the pieces of data we need to move into human clinical trials. Of course, we adhere to the Animal Welfare Act, National Research Council Guide for the Care and Use of Laboratory Animals, and all appropriate U.S. Department of Agriculture and National Institutes of Health regulations and standards for animal research. We expect to have good luck with direct surgical injection because it has been shown to be more efficient in other animal models, but the studies will determine this for sure.

2007 Research Update

Funding for all types of OI research will give us the data we need when we’re ready to put it to use. The OI Foundation’s annual scientific meetings are helping us to find partners and learn about new possibilities. The Linked Clinical Research Centers are putting a network in place that will allow us to test our methods as they are developed. But when we do move into the clinic, the costs and preparations will increase, and we’ll have to raise a lot more money.

OI Foundation: If direct surgical injection is effective, then how will that apply to people?
Dr. Russell: If the animal studies are successful, the next step is to design a clinical trial (testing in people). We would probably start with the weight bearing bones, and initially just one bone on one side, so we could compare it to the bone on the other side. We expect to be able to treat each bone through the skin (percutaneously) with local anesthesia. If it works, I think we could go after all the important bones pretty easily, even if it meant a fairly extensive set of injections.
OI Foundation: It's truly exciting to think about being able to inject corrected cells back into the bone to cure OI. But we have to ask, what could go wrong?
Dr. Russell: Based on what we know now, there are very few things that could go wrong and cause harm to people. We will be using a person's own cells and creating a very narrowly defined genetic change. We don't expect any inflammation because there are no new antigens (a substance that stimulates antibodies) involved. One real possibility is that the cells won't survive after injection, but this shouldn't be dangerous.
OI Foundation: Who will be most likely to benefit from gene targeting?
Dr. Russell: We really can't say at this stage. Adults could benefit, and we will probably start with them. However, kids might do better because of their higher bone turnover and growth rate. If we find that the targeted cells are remodeling the bone, then perhaps proper exercise and therapy would make the bone remodel into a normal shape. Remodeling could also cause improvements in adults.
OI Foundation: It sounds like you're covering all the bases. You've done your research into past experiments, you're collaborating with others, and thinking through potential problems in advance. What do you need right now to move this research forward faster?
Dr. Russell: Funding for all types of OI research will give us the data we need when we're ready to put it to use. The OI Foundation's annual scientific meetings are helping us to find partners and learn about new possibilities. The Linked Clinical Research Centers are putting a network in place that will allow us to test our methods as they are developed. But when we do move into the clinic, the costs and preparations will increase, and we'll have to raise a lot more money.

~Make A Donation~
When making your donation through our site, the only thing we ask, is that you make it in honor of Katrina Theriaque, (My Daughter).
Please click the link below and follow the instructions. This link will take you straight to the OI Foundation Donation page.

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