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There are many ways a parent might learn their child has Osteogenesis Imperfecta. Some find out during a routine ultrasound,
others shortly after birth, some when their baby starts to stand or walk, or after a number of fractures in early childhood.
No matter when the diagnosis comes, the news is usually overwhelming. Information available online and in medical books is
often depressing and even scary. There are unusual terms and long lists of symptoms your child may have or develop.
Sometimes an inexperienced doctor may even give a completely inaccurate prognosis for what the future holds. It can be an
incredibly frightening time for parents.
Have Hope!
- If there is any advice that more experienced parents can share with "new" OI parents it is to HAVE HOPE! Never in the
history of OI has there been more promising treatments and advances in surgical techniques available to help children with
OI live much more fulfilling lives. No doctor is really able to predict what the future will hold for a child with OI
and how severely or mildly a child will be affected. So don't let that long list of "what to expect" get you down. Focus
on your child as a child first, having all the needs of love and touch and security that a child needs. Tell yourself that
it is critical to take things one day at a time and allow yourself time to internalize all the new things you are learning.
There are other parents out there who have gone through the exact same thing you are going through and who are more than willing
to share their experiences and help along the way.
Personal Experiences
Testing for OI:
- There are different types of tests that can be done to determine if your child has OI and/or to tell you what type of
OI your child has. For some people this is very important, particularly if the child has a more mild case or if the family
has been accused of child abuse. For other families a clinical diagnosis is sufficient and they feel no testing is needed.
The tests available can take months to get results and often the results are not 100% accurate. Often a child CAN have OI
even if the test comes back negative.
- Whether you decide to have your child tested for OI it is important to consider that the way OI affects someone is very
different from person to person. While the different classification of types (I, II, III and IV) may give you a general idea
of the severity, it really won't affect the way your childs symptoms are treated. Some type I's may experience many fractures,
while there are type III's who present very mildly. Even when OI runs in the family it is not unusual for those affected by
OI to have different levels of severity. So, while a skin biopsy or DNA test can provide some clarity in certain cases, it
is not always necessary to have.
Starting Pamidronate:
- One very important decision that a parent should begin researching is whether or not to start their child on Pamidronate.
It is a known fact that the earlier Pamidronate is started (early infancy) the more dramatic the results can be. Pamidronate
is usually given to those children with moderate to severe OI. Some guidelines for considering Pamidronate would include:
multiple fractures in utero or at birth; multiple long bone fractures or compression fractures (vertebrae) within a
year; or considerable bone pain. Most infants and children with Type III and Type IV respond very well to Pamidronate.
Sometimes when a child has Type I they may not be severe enough to need Pamidronate. Whatever the case may be it is important
to determine if you should consider Pamidronate and if so, work to get the treatments started as quickly as possible. There
is no limit to how early an infant can start Pamidronate, some have begun treatment within the first weeks/months of
live. Please click the following link to read other parents experience with starting their child on Pamidronate.
Personal Pamidronate Experiences
Articles about Pamidronate and OI
Finding a Good Orthopedic Surgeon:
- It will be important to find good local orthopedic care for your child when they fracture. A good orthopedist will be
willing to work with you and include you in the decision making process of caring for your child. It is not always possible
to find a doctor with considerable OI experience, but it is critical that the orthopedist be open to learning about OI and
becoming knowledgable on the latest treatment options and proper care for an OI child. For example, the weight of a plaster
or fiberglass cast may be too heavy for the bones of a child with OI and often the cast can act as a fulcrum, causing the
bone to break above or below where a cast ends. It is important for an Orthopedist to know this and consider using lighterweight
splints when possible. Also, children with OI usually have their fractures immobilized for considerably less time than a child
without OI.. Because the bones, and often muscles, are already weak to begin with it is important to immobilize a fracture
for as little time as possible so as not to let the bones and muscle atrophy (become weaker from lack of use). Some
parents find a good orthopedic surgeon from the start, and for others it takes a little time. Don't be afraid to explore your
options, you may have to travel to a nearby hospital or city, but it is worth it to find a doctor you feel comfortable with.
- You may want to contact the head of your local ER and let them know that you have an infant or child with OI and
you may be bringing them to this particular ER for fracture care. It is a good opportunity to find out if they are familiar
with OI and to possibly suggest that they educate their staff on handling a child with OI. The OI Foundation offers a booklet
to help educate doctors and nurses about OI and it would be great to send one to your local ER, particularly if you will be
going to smaller hospitals where they are less likely to have seen patients with OI.
Personal Stories about Rodding in OI children
Seeing a Specialist:
- Many parents, at one point or another, choose to take their child to a particular hospital to be seen by a team of
OI experts. Because OI is such a rare disorder it can be very helpful to have the opinion of experts to help you better understand
how OI affects your child. While local doctors are necessary for immediate fracture care, some choose to see experts at regular
intervals (bi-yearly, yearly) or as needed to guide them in decisions regarding their childs care. Many families travel
to these experts if their child needs rodding surgery to take advantage of expert surgeons using the most modern rods and
surgical techniques. These experts hold "OI Clinics" at their hospitals, usually once every month, where they bring together
all the specialists that a child with OI would need (pediatrician, orthopedic surgeon, nutritionist, phycical therapist,
occupational therapist, dentist, audiologist, etc). During the course of a day your child would be seen by all the specialists.
Click for OI Centers of Excellence
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If you happen to live near a Shriners Hospital for Children ( http://www.shrinershq.org/shc/index.html ) it would be a good idea to begin the Shriners Application process. Shriners Hospitals for Children offer free expert
medical care to children, birth to age 18, with specific disorders or medical needs. Having OI qualifies a child for care
at these hospitals. Some have better reputations for being more up to date in their treatment of OI, Montreal being the
absolute best. Other good Shriners Hospitals include: Los Angeles, Chicago, Intermountain (Salt Lake City, Utah), Tampa (complete
this list!)
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