Broad Aspects of All Osteogenesis Imperfecta

Abbreviation: OI
Also known as: Brittle bones, Fragilitas Ossium, Vrolik Disease
What it is: It is a genetic disorder that has the lack of collagen or poor quality of collagen making bones soft,
fragile, and grow back in different ways. Breaks are normally common between the ages of 215. About 1 in
50,000 births a child is diagnosed with OI.
How it is received: Genetic disorder by mutations, recessive and dominant genes. The genes affected are COL1A1,
COL1A2, CRTAP or LEPRE1 gene on the 17th chromosome.
How it is diagnosed: Skin biopsies, many broken bones in a short time
Pain: Can be chronic (person isnt predictive), or acute (considered good)
Physical activities they can do: Swimming, range of movement activities, any sport, or anything they physically
can do. They just need to be more careful. Normally use softer/lighter objects (about 5 oz), so when they
are hit by them it isnt a huge injury. They can also use shuffleboards and ramps. After OI arrests itself,
people with OI can do incredible things physically. Bell Lehr has finished the Boston Marathon in 2 hours
and 50 minutes, a world-class track star and swimming star, and has OI. In addition, Wayne Washington
has OI and is a world-class weight lifter. He is 112 lbs. and can lift 290 lbs.
Life expectancy: It is indefinite, though more than half the patients with OI die before 10 years old according to
statistics. People with OI who live longer than 10 normally have a great life expectancy.
Child Abuse: People might think you are abusing your child, especially if your child is not diagnosed with OI yet
and has constant fractures. All states have their own laws for child abuse. Although most of the time child
abuse is notified by a person who hears two different stories about how the child got the injury, you still
could be affected with others thinking you are abusive.
Support Groups: Osteogenesis Imperfecta Foundation has a bunch of support groups listed on their website at
http://www.oif.org/site/PageServer?pagename=SN_FindGroup . They have a Facebook page at
https://www.facebook.com/OsteogenesisImperfectaFoundation . They have a few websites, people to
contact almost in every state, and locations for a few support groups. In Idaho Trisha Taylor is in charge.
She had one meeting and no one ever showed up. So she is willing to hold a meeting if you contact her at
208-969-0791 or unbreakablespirittrisha@gmail.com.
Story of a woman and her life with OI: https://www.youtube.com/watch?v=wqksPtN6osg

Osteogenesis Imperfecta Type 1

Definition: It is a mild and common form of brittle bones that can be traced through your family genes. It
is a dominant gene. Bones have near normal structure; bones tend to be slightly shorter.
Symptoms:

Blue tint in the white of the eyes (sclera)

Fractures easily

Dental problems

Hearing loss in 20s 30s

Fractures are normally before puberty and women receive more fractures after menopause

Triangular face

Tends to have spinal curvatures

Osteogenesis Imperfecta Type II

Definition: Since this types collagen, it is the most dangerous type and is lethal. Bones are extremely
delicate. It is a dominant gene that can be traced through the family.
Symptoms:

Fractures in a fetus and bowing limbs from fractures

Normally cannot sustain life and fetuses die

Respiratory failure

Short limb dwarfism

Thin skin

Soft skull and huge fontanels (soft spots)

Blue sclera

Small nose and low nasal bridge

Inguinal hernia

Osteogenesis Imperfecta Type III

Definition: The collagen has a sufficient amount. The collagen are forming bones inadequately resulting
deformities and other complications. This can be traced in your family and is dominant gene.
Symptoms:

Fractures at birth are common

Small stature of about 3 ft.

Severe early hearing loss

Loose joints

Poor leg and arm muscle development

Barrel-shaped rib cage

Osteogenesis Imperfecta Type IV

Definition: Its moderately severe. Theres an adequate amount of collagen, but the quality is poor. It can
be traced through the family and is a dominant gene.
Symptoms:

Easily fractures

Normal/near normal sclera

More dental problems than Type I

Loose joints

Spinal curvatures

With further research of the bone structures, Scientist found out that Type IV has a few different
internal patterns in the structure. This resulted into Types V and VI.

Osteogenesis Imperfecta Type V

.
Definition: Its similar Type IV. (Its a moderately severe type. Theres an adequate amount of collagen,
but its quality is poor.) It is unknown how it is received. Type V appears to have bones that have
a structure like mesh.
Symptoms:

Easily fractures

Normal/near normal sclera

More dental problems than Type I

Loose joints

Spinal curvatures

Thick band neighboring the growth plate of the long bones

Abnormally large new bone (hypertrophic calluses) where there were fractures or surgery was
done

Restriction of forearm rotation

Osteogenesis Imperfecta Type VI

Definition: Its similar Type IV. (Its a moderately severe type. Theres an adequate amount of collagen,
but its quality is poor.) It is unknown how it is received. Type VI appears to have bones that
have a fish-scale structure.
Symptoms:

Easily fractures

Normal/near normal sclera

More dental problems than Type I

Loose joints

Spinal curvatures

Higher movement level of alkaline

phosphatase (enzyme related to formation
of bones)

Osteogenesis Imperfecta Type VII

Definition: Its similar Type IV and Type II. It is lethal unless the infant has white sclera, a small head
and round face. It is a recessive gene.
Symptoms:

Loose joints

Spinal curvatures

Small stature

Short humerus and femur

Deformed hip joint (coxa vara) causes femur to bend affecting hip socket

Absence of the cartilage

Osteogenesis Imperfecta Type VIII

Definition: Its similar Type II and III. It is lethal except if infants have white sclera. It is a recessive gene.
Symptoms:

Easily fractures

More dental problems than Type I

Loose joints

Spinal curvatures

Serious growth deficiency

Extreme skeletal undermineralization

Absence or severe deficiency of prolyl 3-hydroxylase activity

Physical Activities
They can do anything they physically can do. Gym teachers normally make
accommodations like use softer/lighter objects (about 5 oz), so when they are hit by them it isnt
a huge injury; and shuffleboards and ramps. They can do activities that are in their range of
movement. They just need to be more careful. Swimming in normally one of the best activities,
because the risk of a fracture is lessen and the pain is lessened too.
After OI arrests itself, people with OI can do incredible things physically. There are two
athletes who I have listed in here who have OI and set records. One of them is Bell Lehr. He has
finished the Boston Marathon in 2 hours and 50 minutes. He is a world-class track star and
swimming star. The other athlete is Wayne Washington. He is a world-class weight lifter. He
can lift 290 lbs. and only weighs 112 lbs.
On this website http://www.brittlebone.org/, you can find some information about events and
volunteering in the Brittle Bone Society.
Also there is a phot gallery that shows events and activities people with OI do.
http://www.brittlebone.org/get-involved/photo-gallery/events-gallery/#

Treatments
Currently there are no treatments, but there are ways to correct or prevent conditions from getting
worse. Parents want to make sure that patient with OI finds a health center that can help with
biochemical, orthopedic, dental, and hearing problems. There are materials for them to use, coping
strategies, and procedures.
Materials:

Wheel chair/braces

Customer-made equipment

Pain management: over-the-counter medications, prescriptions, depression medications

Non-steroidal Anti-inflammatory Medications (NSAID)

Topical Pain Relievers (creams)

Narcotic Pain Medications- alters perception of pain but affects balance and OI patients need to
be careful

Procedures:

Rodding- a surgery where metal rods are put along the length of the long bones to strengthen
them, prevent/correct deformities, reduces fracture rate, and improves the wellbeing of that
individual. It is only after multiple of breaks in the same area or if the bones are deforming, and
pain is worsening. They can receive this treatment when they can walk. This is a last resort;
because when the rod is straightening the bones, it is also splinting the bones internally. It is
normally only given to people who have moderate to severe types. The doctors tailor the surgery
for each individuals needs. The patient normally receives this treatment after a facture heals, but
sometimes they will do it right after a fracture happens, so a person doesnt need to be in a
second cast after the healing processes.

Coping Strategies:
This normally requires multidisciplinary approach with specialists in medicine, psychology, and
rehabilitation.

Orthopedic Therapy- decreases bone loss and boosts bone density

Individual/Family Therapy with psychologist, psychiatrist or psychiatrist social worker

Massage Therapy

Exercise/Physical Therapy- strengthens muscles, increase stamina, gives a positive outlook, and
increasing endorphins, which minimizes the pain. They teach proper positioning, posture,
exercising muscles without harming bones. Ex. Pool Therapy

Heat and Ice

TENS (Transcutaneous Electrical Nerve Stimulation)- a portable machine that send a mild
electronic shock sent to the pain in the body to block the pain signals. This is available with a
prescription for rent at a hospital, or you can buy them.

Acupuncture/Acupressure

Relaxation Training- practices concentration and slow breathing

Biofeedback- professionals who use special machines teach how to use it. The machines control
functions like heart rate and muscle tension

Visual Imagery/Distraction

Hypnosis

Never Block- involves injection to the area of damaged nerve, which numbs that area, and nerve
to stop the pain. This can last for a few hours or a few months.

Psychosocial Needs of the Family

Parents:

Grieve cycle

Possible charge or thought to be an abusive parent if not diagnosed at birth

Conflicting feeling about their child

Explaining the situation to family and friends (might not have support from them)

Time management and being able to say no to being with or helping others when needed

Difficulty accepting the diagnoses

Spending time with all children and considering their feeling

Eventually gaining confidence and acceptance to see their child a person with a disability

Explaining their childs limits

Siblings:

Possibly more responsibilities are expected

Rivalry for attention

Feeling/imitating parents emotions

Possibly not being able to hold their new sibling (Some have the child hold a pillow, and then
put the newborn on top of the pillow with parents next to them.)

May not be able to form a physical relationship with their sibling who has OI

Have to learn to release anger in other ways than being physical with people

Child with OI:

Try to become self-sufficient and productive

Early in life theyre frighten of sudden movements, unfamiliar circumstances, and being
touched

Positive experiences

Academic and social progression

Taking physical risks to know their limits and consequences

Self-image and esteem (can lead to depression)

Being involved in interests (clubs, organizations, etc.)

Going to school:

Lack of faculty who know about OI

Negative faculty

Letting faculty know what they and the child can do

Adulthood with OI:

Some will have normal lives with children of their own

Some might need a living assistant to help out

Child Abuse
OI and child abuse have some things in common like:

Multiple fractures in different healing stages

Rib fractures

Spinal fractures

No explanation for the trauma

All states have their own laws for child abuse. Although most of the time child abuse is notified by a
person who hears two different stories about how the child got the injury, you still could be affected with
others thinking you are abusive. If you are charge with child abuse, you should:

Get an attorney

Remember everyone involved in this situation is doing what is best for the child and their job

Look for the best diagnoses even if you have to go to an Orthopedic Specialist in OI

Have Geneticist who is familiar with OI to look at your background

DONT change medical doctors or providers without telling a case worker (It looks like youre
trying to hide child abuse.)

Make sure case worker is up to date and comprehends the things you tell them

If child is being relocated, you can request a family member to watch your child.

When everything is resolved, make sure ALL charges are erased from ALL records, otherwise you
can be registered as an abusive parent until your youngest child is 18.

For additional information on child abuse (not legal advice) contact OI Foundation at 800-981-2663.

Parent Knowledge for Child with OI

Early Intervention:

Public and Private Agencies for children who are delayed in development up to the age of 3

Goal making and how to achieve the goal

Work on meeting development in lacking areas

Provides services to little or no cost

To find an agency near you contact National Information Center for Children and Youth with Disabilities
(NICHCY) at 1-800-695-0285 or look it up online at http://www.kidsource.com/NICHCY/index.html .
In Idaho you can look at http://www.healthandwelfare.idaho.gov/?TabId=78 .
School:
You need to be aware of state laws and services like:

Free Appropriate Public Education (FAPE)- everyone has the right to go to a public school

Least Restrictive Environment (LRE)- being in the general classroom as much as possible

504- having services for the physical needs of the student

Individual Educational Plan (IEP)- a plan for an individual to progress up to grade level
knowledge in their education for academic, emotional, and physical needs. This is good from 4-21
years old.

Parents should:

Meet with teachers to explain OI and the abilities of your child

Ask teacher to explain OI to the class

Have the teacher treat your child like an average child

Ask for extra copies of text books for home, so child doesnt have to lift many heavy books at
once

At 16 years old of the child with OI, IEP should include a transitional service

Support Groups:

OI Foundation Facebook page: https://www.facebook.com/groups/43935368633/

OI Foundation Website to be a member and blog: http://oinetwork.ning.com/

OI Parent Facebook page: https://www.facebook.com/groups/OIParents/

OI Dads Facebook page: https://www.facebook.com/pages/Churchville-New-York108192329205845#!/groups/197070970333581?ap=1

List of International OI Groups:

http://www.oif.org/site/DocServer/International_OI_Associations_for_Website.pdf?docID=15683

OI Groups and leaders in states of the U.S.:

http://www.oif.org/site/PageServer?pagename=SN_FindGroup

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