chelsealush

Not really Livejournaling anymore. I started a new blog that I really feel in love with and im not sure when ill be posting here again.

Osteogenesis Imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. There are at least four recognized types of the disorder, representing extreme variation in severity from one individual to another. For example, a person may have just a few or a as many as several hundred fractures in a lifetime.

It is estimated that there are about 20,000 to 50,000 people with Osteogenesis Imperfecta in the United States.

Osteogenesis Imperfecta is caused by a genetic defect that affects the body's production of collagen. Collagen is the major protein of the body's connective tissue and can be likened to the framework around which a building is constructed. In OI, a person has either less collagen than normal, or a poorer quality of collagen than normal--leading to weak bones that fracture easily.

The characteristics features of Osteogenesis Imperfecta vary greatly from person to person--even among people with the same type of OI, and not all characteristics are evident in each case.

Clinical Features


Type I --
Most common and mildest type of Osteogenesis Imperfecta.
Bones predisposed to fracture. Most fractures occur before puberty.
Normal or near-normal stature.
Loose joints and low muscle tone.
Sclera (whites of the eyes) usually have a blue, purple, or gray tint.
Triangular face.
Tendency toward spinal curvature.
Bone deformity absent or minimal.
Brittle teeth possible.
Hearing loss possible, often beginning in early 20s or 30s.
Collagen structure is normal, but the amount is less than normal.

Type II --
Most severe form of Osteogenesis Imperfecta.
Frequently lethal at or shortly after birth, often due to respiratory problems. In recent years, some people with Type II have lived into young adulthood.
Numerous fractures and severe bone deformity.
Small stature with underdeveloped lungs.
Collagen is improperly formed.

Type III --
Bones fracture easily. Fractures often present at birth, and x-rays may reveal healed fractures that occurred before birth.
Short stature.
Sclera have a blue, purple, or gray tint.
Loose joints and poor muscle development in arms and legs.
Barrel-shaped rib cage.
Triangular face.
Spinal curvature.
Respiratory problems possible.
Bone deformity, often severe.
Brittle teeth possible.
Hearing loss possible.
Collagen is improperly formed.

Type IV --
(Between Type I and Type III in severity)
Bones fracture easily, most before puberty.
Shorter than average stature.
Sclera are white or near-white (i.e., normal in color).
Mild to moderate bone deformity.
Tendency toward spinal curvature.
Barrel-shaped rib cage.
Triangular face.
Brittle teeth possible.
Hearing loss possible.
Collagen is improperly formed.

Inheritance Factors

Most cases of Osteogenesis Imperfecta are caused by a dominant genetic defect. Some children with OI inherit the disorder from a parent. Other children are born with OI even though there is no family history of the disorder. In these children, the genetic defect occurred as a spontaneous mutation.

Because the defect, whether inherited or due to a spontaneous mutation, is usually dominant, a person with Osteogenesis Imperfecta has a 50 percent chance of passing on the disorder to each of his or her children. Genetic counselors can help people with OI and their family members further understand OI genetics and the possibility of recurrence, and assist in prenatal diagnosis for those who wish to exercise that option.

Treatment

There is not yet a cure for Osteogenesis Imperfecta. Treatment is directed toward preventing or controlling the symptoms, maximizing independent mobility, and developing optimal bone mass and muscle strength. Care of fractures, extensive surgical and dental procedures, and physical therapy are often recommended for people with OI. Use of wheelchairs, braces, and other mobility aids is common, particularly (although not exclusively) among people with more severe types of OI.

A surgical procedure called "rodding" is frequently considered for individuals with OI. This treatment involves inserting metal rods through the length of the long bones to strengthen them and prevent and/or correct deformities. Several medications and other treatments are being explored for their potential use to treat OI. The OI Foundation can provide current information on research studies and experimental treatments for OI, as well as information to help individuals decide whether to participate in clinical trials.

Several medications and other treatments are being explored for their potential use to treat OI (see next section PAMIDRONATE TREATMENTS). The OI Foundation can provide current information on research studies and experimental treatments for OI, as well as information to help individuals decide whether to participate in clinical trials

So ive been doing nothing but research when im online. I love my baby so much. shes been moving a little higher than usual and i can feel her in my belly button.

Today was my followup u/s with Dr. Krakow to put a name on what type of dwarfism we though was going on. Well today we found out that my baby girl has OI type II. Its the most severe form and they said that her rib cage is turning in and not giving enough room for both lungs to develop. Just her heart is growing and its taking up 50% of the space, where as it should only be taking up 33%, 33 for each lung and 33 for the heart. So IF we were to carry til full term and I were to have a c-section, that she would pass away due to respiratory failure, and if we were to put her on a ventilator that when it gave her oxygen, when her ribs would expand they would just all break. Her femur has 2 fractures all ready and her skull is not fully ossifing. Her ribs also have a few fractures. I just dont know. I could see myself carrying til full term, having the c-sec and just having her for a a short minute, but at the same time, shes already fracturing. I dont want her to hurt. Dr. said that she has a lot more room than a regular 20w because shes only measuring at 17-18w, and thats giving her more room to 'swim' but shes still fracturing her little bones even with all that room. I am really torn.

friday came and gone and baby girl hasnt been seen yet. appt is set for wed morning at 8am in beverly hills. ill do a real update after that. until then here is what i wrote to curtis' grandma.

....
We had another ultrasound this morning and so far we know that she has
bowed femurs, like telephone receivers. Her skull was measuring
normal- not too thick or thin - and with no weird spaces or water on
the brain. She has all 12 ribs, ten fingers, ten toes. No facial
abnormalities, no cleft palete or cleft lip. They said her arms are
measuring anywhere from 7-10 days behind, which to me doesnt seem so
bad! Her legs though are measuring 3-4 weeks behind. Hopefully it
sounds scarier than what it is. We know it definetly is some sort of
dwarfism, just not sure of what kind yet. They said its not the most
common kind, like on "Little people Big world" on TLC because if it
was than she would have a larger head. And its definatly not
primortial dwarfism, because her torso and head would be smaller than
normal, and so far her head and body look right on track. I just
really wish i had more anwsers but I know that I might not even get
any until Birthday. I love you Grandma and I will keep you updated
with everything. I miss you and we all three love you so much..

Pseudoachondroplasia

This is what they 'think'

"there are only a few specialist in the country and luckily one is only a few hours away, we'll try to get you in by friday."

I am speechless and wish I knew more.

"it is not anything that could've been prevented, that you or the father did."

Defiantly tomorrow. Going to two doctors appts, one at nine and one at eleven. Unfortunately I have a test today and my final tomorrow and I am a major ball of stress so I dont think im going to do very well on those.

BIG entry coming soon. Tomorrow or Wednesday. Way too much going on to even fathom writing right now.

I feel fat. F-A-T. I can't fit into any of my pants, only my way bigger clothes that I dont even know where they came from. Everything I wear is unbuttoned and all my shirts have to be long enough to cover my buttons or else I look rediculous. I would consider getting one of those Bella Bands but I spend majority of my outside life at school, in scrubs, where no one can tell I've gained 10 lbs. I cried a few times because I just cant get ready and go like I have always been able too, I have to try to find something that looks appropriate with my newly found hips and cantalope-uterus.

Ugh.

On a MUCH higher note; baby kicks. Not hard. Not often, but he (she) did. Dude, i swear, my baby is a boy, idk why... I just always want to say He, never She. Either way, it'll be the best ever.. I just for some reason think boy boy boy. Anyways, late at night, when I am laying on my back and bumping, baby moves and I feel jabs, like pokes, "hey mom" so I grab my belly and wiggle him around and I feel it more "stop crazy lady!" haha.

Alright, Baby is about 5.5-6 inches long, CRL (which means crown to rump length, fetal postion) but about 9 inches if stretched out. Weighs almost 7 ounces. He can hear my heartbeat, if I have hiccups, when people talk, any outside noises really. He can be startled my dog barks or doorbells or anything like that. Can do flips, sit crossed-legged, punch, kick, has sleeping patterns, yawn, suck his tiny thumb, cry- although its just the motions because it has literally nothing to cry about.

Its dancing to the Bob Marley Lullabies I have playing on my belly.