#osteogenesisimperfecta

[oistrong]

This is very important...

[bondracstudios]

❓ Did you know that the last day of February is National Rare Disease Day?

❓ Did you know that 1/10 Americans lives with a rare disease?

🔗 Head to rarediseases.org to learn more

📢 Representation in arts & media is crucial for raising awareness! So, we've curated a list of fiction books that tackle just some of the conditions considered rare diseases.

💬 There are 88 books included in this list- how many have you read?

💬 Is there a rare disease you wish had some representation in the fiction world?

🔗 Find books from the list here--> tr.ee/qo6dDM

[jacarooster813]

We sell candy now! We have a way bigger selection than just this but I’m featuring this for now because it’s snowflakes and snowflakes are beautiful and rare and unique just like those with osteogenesis Imperfecta so Any snowflakes or wishbone families interested in these let me know and I’ll hook you up. #wishbone #snowflakes #snowflakecandy #lollipop #snowflakelollipops #osteogenesisimperfecta #osteogenesisimperfectaawareness #brittlebones #brittlebonedisease #candy #candyofinstagram #christmas #christmasgifts #lollipopschristmas #thebookofroo #oicandoallthings #oicandoanything #giftideas #gifts #giftbaskets #giftsforfriends #roostreasurestore #roostreasures #roostreasureshop #shopsmallbusiness #shoponline #shopper #shoppingtime #sale #sales https://www.instagram.com/p/CIJqbhflKp4/?igshid=vpof3zvobtxy

[howdoesithappen]

Osteogenesis Imperfecta (OI)

1. In a nutshell Osteogenesis imperfecta (OI) is a term used to define a heterogeneous group of genetic disorders that are broadly characterised by extreme bone fragility. OI is typically inherited in an autosomal dominant manner, and involves mutations in genes that code for collagen. Collagen is the major extracellular protein in the body and adequate amounts are essential for the proper development of bone and tissue. In OI, mutations in the genes that code for collagen lead to either an insufficient amount or improper handling of the protein, which ultimately results in the clinical signs and symptoms of the condition. Individuals with OI will present with recurrent bone fractures; they are often very short in stature and may also present with spinal deformity, sclera discolouration and conductive hearing loss. Presentation and prognosis vary considerably and are somewhat dependent on the specific OI phenotype. There is no cure for OI; management of the condition generally relies on medications that will improve bone strength, pain relief, physiotherapy and, in some cases, surgery to strengthen and support long bones and to correct and deformity. 

Figure 1. Blue scleras are considered a “classic” finding in osteogenesis imperfecta but are not present in every case presentation of the condition. 2. What causes it? OI is a genetic condition that is typically caused by deleterious mutations in genes that code for type-1 collagen. In the “classic” form of the disease ~90% of cases result from pathogenic variants of the COL1A1 or COL1A2 gene. Less commonly. loss-of-function mutations in proteins that are required for the proper folding, processing and secretion of collagen result in OI. In rare cases, the condition is inherited in an autosomal recessive manner. 

3. What are the symptoms? The genetic profile and clinical manifestations of OI help clinicians to categorise the disease. Four clinical sub-types of OI have been identified: mild, perinatal lethal, progressive deforming and deforming with normal scleras. In mild OI, patients are typically short in stature, exhibit postnatal fractures, have few or no deformities, blue scleras and suffer premature hearing loss. In perinatal lethal type OI, there are severe postnatal fractures, abnormal bone formation, severe deformities, blue scleras and connective tissue fragility. Progressive deforming OI features include prenatal fractures, deformities that are usually present at birth, very short stature, blue scleras and hearing loss; patients may also be nonambulatory. Finally, in deforming with normal scleras OI, patients will dental abnormalities and normal or grey scleras in addition to postnatal fractures, mild to moderate deformities and premature hearing loss. 

Table 1. Osteogenesis imperfecta subtypes. (McPhee and Hammer, 2019). 4. What’s going on? Collagen is an essential extracellular protein that facilitates tissue and bone development. Type-1 collagen is a major player in bone development and OI results from the insufficient production or absence of this type of collagen. The molecular genetics of OI are complex, but, generally speaking, the fundamental problem that results in a common OI phenotype is the decreased synthesis of type-1 collagen. This is as a consequence of a loss-of-function mutation in the COL1A1 gene. Under normal conditions, this gene contributes to the proper architecture of the type-1 collagen molecule; in the context of type-1 OI, the loss-of-function mutation leads to the production of non-functional mRNA and decreased, deranged protein synthesis. 

5. How is it treated? There is no cure for OI and the management of the condition is usually supportive. Bisphonate drugs can be prescribed to strengthen bone and prevent fractures. Maintaining a healthy lifestyle is recommended. Physiotherapy is considered an important treatment modality and some patients may benefit from surgery to further support bones or treat deformities. Bone infections are a possibility in OI, and are treated with antibiotics and antiseptics. Most people with OI have mild disease and the prognosis is generally favourable. 

6. That’s interesting... Immunotherapy is a novel and dynamic area of modern medicine that has the potential to treat a wide array of diseases. Denosumab is an emerging agent in the treatment of osteogenesis imperfecta. This immunotherapeutic drug prevents osteoclast formation which inhibits bone resorption. It is thought that denosumab may help prevent fractures in OI patients, although more research is needed in this area.

[jack-the-squid]

💚I finally got my sick new wheels!💚

I feel like it needs a name, any suggestions?

[ Video description: a thin, light skinned, nonbinary person with short dark hair and glasses, wearing a white and pink t-shirt with a cat face on one side of the chest, a pink quartz point pendant, a lavender dad hat worn backwards, and khaki denim shorts. They are doing a spin in in their dark green power assist wheelchair and waving at the camera ]

[fearlesssam95]

Okay, let me start with my life story first. I want to be as honest as possible and really invite you into my story so there may be sensitive topics involved.

I was born with a brittle bone disease called Osteogenesis Imperfecta. I will be calling it by the nickname OI from now on. I have a moderate Type III/Type IV. I have had multiple surgeries over the years to put rods in my legs and spine so they wouldn’t break as easily. If I did break my leg, I would usually break the rod as well and have to have it replaced. In total I probably have had at least 15 surgeries in my lifetime. I am a full-time wheelchair user as I get tired easily and it hurts to walk for too long. I can walk very short distances, most of the time with a walker, but you usually see me rolling around in my chair. I have posted pictures from throughout the years for a visual. The worst surgeries I had to go through were a spinal fusion to fix my spine because I had scoliosis with a 65 degree angle. A year later I woke one morning and had a broken left femur and right hip. I was at school in Dayton, Ohio. I could not get out of bed and I lived alone so my mom had to drive 3 hours from Cleveland to Dayton to take me to a local hospital. When they discovered I had two broken legs and that I had OI, no surgeon would agree to operate on them because they had no experience with OI. The quality of my bones suck so many doctors are too nervous to operate because all they know about OI is how extremely brittle my bones are. The doctor in the emergency room called the Cleveland Clinic to see if they would operate on me, since that was where I was from and had surgeries there before. I had to be taken in an ambulance from Dayton to Cleveland with no pain medicine, as they were unsure when the surgery would be and didn’t want the pain meds interacting with anesthesia. At least that’s what they told me. It was the most painful experience ever. A great surgeon on call ended up taking me on and put new rods in my legs. He tried to pin my femoral head (hip bone) but unfortunately it was in too many pieces. About a month later I had to have a second surgery to have the femoral head removed. I currently do not have a hip bone as they say I’m too young for a fake one. I thought I would never be able to walk again, but after a year of practicing, I was able to walk on my own again. Perseverance pays off kids! I’ll post some X-ray pics in a separate post so you can have a visual!

I went to a Catholic school for 8 years and had to switch to public because I was getting bullied. At the end of 5th grade I had a classmate who I had been friends with since 1st grade come up to me and say “Since we are going to be in middle school next year, it might be best if we don’t hang out as much anymore” I asked why and her only answer she could give me was “Because you’re in a wheelchair”. This girl had a huge influence on 6th grade. All my girl classmates stopped talking to me and asking me to hang out outside of school. I started to be made fun of for the way I dressed, the way I looked, and for using a wheelchair. I can’t tell you how many times I came home from school crying. The only friends I had left by the end of 6th grade were all males. I made the decision to switch to public school and my life became so much better. I had friends again, I was finally getting asked to hang out outside of school, I wasn’t being made fun of anymore… It was fantastic.

The only thing that really affected me in high school and into college in regard to using a wheelchair was it was very difficult trying to date. Boys didn’t want to give me a chance because it was “uncool” to be dating the girl in the wheelchair. At the time I was the only girl who used a wheelchair in the whole high school. I had a ton of friends, both boys and girls, but didn’t receive me first boyfriend ‘til my third year in college.

In college, I would match with a ton of guys on Tinder but as soon as they found out that I used a wheelchair I would get ghosted. I had a few guy friends I developed crushes on but besides a few kisses here and there when we had a few drinks in us, the relationship went nowhere. I spent a good while being in the friendzone until I found my current boyfriend, Rich.

Rich has been a source of ultimate happiness since December of 2015 when we first matched on Tinder. We currently live together and own 2 cats together. I really think I’m going to marry him someday, once we’re both done with school.

I am currently 24 years old and have my bachelor’s degree in Psychology. I will be starting my master’s this Fall for Social Work! My dream job is to be a counselor.

[parrotpolish]

#Repost @tesladaynails with @make_repost ・・・ I have one more collab to share today! This one is for OI (Osteogenesis Imperfecta) awareness day. The lovely Lizmo @nailsoflizmo put this collab together for her nephew, Ryno @ryan_flit19. The theme was yellow and orange and bones! I kinda interpreted the theme a bit liberally, and instead of the OI symbol or human bones, I did dinosaur bones over some fluid art! I used @parrot_polish Pit Viper Yellow, Orangutan Orange, and Bangladesh Tiger, and @julepbeauty Tenaya for the base and fluid art. For the stamping, I used @bornprettystore black stamping polish and the collaboration plate between @beautometry and @clearjellystamper, CjS LC-35! Please swipe for extra photos and the collage, and don’t forget to check out #rynosawarenessday for all the other fabulous manis! #tesladaynails #osteogenesisimperfecta #oipride #wishboneday #parrotpolish #julepbeauty #clearjellystamper #beautometry #bornpretty #moyoulondon #fluidart #fluidartnails #fluidnailart #nailstamping #nailstampingart #stampingnails #stampingnailart #nails #notd #nailart #nailsofig #nailsofinsta #nailstagram #nailsofinstagram https://www.instagram.com/p/BxJJwG4AmJW/?utm_source=ig_tumblr_share&igshid=1t8sejv01a6l4

[oicandresstoimpress]

This Drip tho...💦