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For Haven’s Sake

August 31, 2015

This is my son.

His name is Haven.

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On the outside, he is a beautiful little boy with a contagious smile.

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But, on the inside, there is a rare disease wreaking havoc throughout body.

That disease is called Osteogenesis Imperfecta, which means “imperfectly formed bone” (oftentimes referred to as “OI” or “Brittle Bone Disease”).

It is a congenital disorder that results in fragile bones that break easily.

Brittle Bone Disease can range from mild to severe. Some cases are mild, resulting in few bone fractures. However, the severe forms of the disease can cause hearing loss, respiratory or heart failure, spinal cord and brain stem problems, and permanent deformities.

In some forms, the disease is fatal to babies either before, or shortly after birth. Approximately three people in 50,000 are born with brittle bone disease. It is a disease that does not discriminate…and occurs equally among each sex and race.

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Brittle Bone Disease is caused by a genetic defect that affects the production and formation of type 1 collagen, a protein used to create bone. The defective gene is usually inherited, but in some cases the defect occurs due to a spontaneous mutation.

There are four different genes responsible for collagen production, and any combination of them can be affected. These combinations produce many different types of Brittle Bone Disease, typically labeled as Type 1 OI through Type 8 OI. The first four types are the most common. The last four types are extremely rare and most are subtypes of Type 4 OI.

Type 1 OI is the mildest and most common form of Brittle Bone Disease. With this type, a child’s body produces normal quality collagen, but just not enough of it. This results in only mildly fragile bones. Children with Type 1 OI typically experience bone fractures due to mild traumas. Such bone fractures are much less common in adults. The teeth may also be affected, resulting in dental cracks and cavities.

Type 2 OI, the most severe form of Brittle Bone Disease, is oftentimes fatal. In Type 2 OI, a child’s body either produces poor-quality collagen or not enough of it. Type 2 OI can produce bone deformities. Infants born with Type 2 OI may have narrowed chests, broken or misshapen ribs, and underdeveloped lungs. Many babies with Type 2 OI die either in the womb or shortly after birth.

Type 3 OI is a severe form of Brittle Bone Disease that also causes bones to break easily. In Type 3 OI, a child’s body produces enough collagen, but it is of poor quality. A baby’s bones can even begin to break before birth. Bone deformities are common and may get worse as your child gets older.

Type 4 OI is the most variable form of Brittle Bone Disease because its symptoms range from mild to severe. As with Type 3 OI, the body produces enough collagen, but the quality is poor. Infants with Type 4 OI are typically born with bowed legs, although the bowing tends to lessen with age.

The doctors believe that Haven has either Type 4 OI or a severe form of Type 1 OI.

The symptoms of Brittle Bone Disease vary according to the type of the disease. Everyone who suffers from Brittle Bone Disease has fragile bones to varying degrees. If you have the disease, you also may have one or more of the following symptoms:

-bone deformities
-multiple broken bones
-loose joints
-short stature
-weak teeth
-triangular-shaped face
-blue sclera (bluish color in the white of the eye)
-bowed legs and arms
-kyphosis (an abnormal outward curve of the upper spine)
-scoliosis (an abnormal lateral curve of the spine)
-early hearing loss
-respiratory problems
-heart defects

Doctors are able to diagnose Brittle Bone Disease through X-rays to view current and past broken bones and to view defects in the bones. Lab tests can analyze the structure of a child’s collagen. Doctors will often want to run a skin punch test for a biopsy. The doctor will use a sharp, hollow tube to remove a bit of tissue approximately the size of a pencil eraser.

Genetic testing is sometimes encouraged so that the source of any defective genes can be traced.

Although there is no cure for Osteogenesis Imperfecta, there are supportive therapies that help reduce the risk of broken bones and increase quality of life.

Treatments for Brittle Bone Disease include the following:

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TREATMENT 1~ Physical and occupational therapy to increase your child’s mobility and muscle strength to help reduce risk of fractures.

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TREATMENT 2~ Low-impact exercise to help build bone.

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TREATMENT 3~ Reconstructive surgery to correct bone deformities, and/or surgery to place rods into the intramedullary canals of bones to strengthen them.

This past spring, Haven had rods surgically placed inside both of his tibias and both of his femurs to help provide stability and reduce the number of fractures in his legs.  In order to insert these rods, the surgeon had to perform five osteotomies (surgical breaks) along his left leg, and four osteotomies along his right leg.  Those breaks were a necessary part of the surgery because Haven had some significant curving/bowing in his legs.  His legs first had to be straightened.  Then, the rods were inserted.

The surgeries were lengthy and difficult….as were the recovery periods.  But, he desperately needed to have them done.

As his family, we did our best to love him through it.

And so did his BFF, Curious George.

George has been his constant, loyal companion during his hospital visits…

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Today, he has some incredible war wounds on both of his legs.

I like to call them his battle scars.

They are scars from a war that we refuse to lose.

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TREATMENT 4~ Regular infusions of bisphosphonate medications (such as Pamidronate or Zoledronate) to increase bone formation.

Shortly after Haven arrived home from China and into our family last summer, we were able to get him started on monthly infusions of Pamidronate (a.k.a. “bone juice”).  Typically, we are in the hospital for about 5-6 hours for each of those treatments.

Infusion days are long days for us.  Especially long for Haven.  But, we always try to make the most out of them, and I always try to remind myself while we’re there to offer up a prayer of thanksgiving for the gift of modern medicine.

I brought my camera along with me for his latest treatment at Riley Hospital.  I did so in an attempt to document what he has to go through each and every infusion day…

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The long-term outlook/prognosis for those who have Osteogenesis Imperfecta varies depending on the type of OI that they have. Outlooks for the four main types of Brittle Bone Disease are:

-People with Type 1 OI can live a normal lifespan with relatively few problems.

-Type 2 OI is oftentimes – but not always – fatal. Infants with Type 2 OI may die in the womb, or shortly after birth from respiratory problems.

-Children with Type 3 OI may have severe bone deformities and often require a wheelchair to get around. People with type 3 OI usually have shorter lifespans than anyone with Type 1 or Type 4 OI.

-Children with Type 4 OI may need crutches to walk. The lifespan of people with Type 4 OI is normal or close to normal.

Regardless of what the textbooks say about the long-term outlook for those with OI (in medical terms), we believe that a cheerful outlook is what truly matters.  A cheerful attitude and a positive outlook – no matter who we are or how healthy we are – plays a huge role in determining our quality of life.

We believe the bible when it says: “A cheerful heart is good medicine, but a crushed spirit dries up the bones.” (Proverbs 17:22)

We believe that Haven’s cheerful disposition and joyful demeanor are good medicine to his soul.

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Osteogenesis Imperfecta is an ugly disease.

I have seen its ugliness and experienced it firsthand.

Because of this disease, I have a set of tally marks scribbled inside the front cover of my son’s baby book…indicating how many fractures he has endured.

Today, there are over 20 tally marks written on there.

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Keep in mind that Haven is only 3 years old.

That’s over 20 fractures in 3 years.

That’s an ugly statistic, friends.

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I have heard, time and again, the cries of my son…indicating that another bone has snapped.  Those cries are unlike anything I have ever heard from my other children.

On numerous occasions, I have sat by his bedside in the hospital, watching him in agony.  I have watched him whimper and wail as the pain medications begin to wear off…whimper and wail as the pain management team struggles to find a combination of drugs that can offer him some relief…whimper and wail as he looks into my eyes as if to say, “Take this away, Mommy. Take it all away.”

I have had my heart broken on numerous occasions as a result of my son’s brokenness.

I have seen his tiny foot balloon up to twice its normal size due to post-surgery swelling.

I have seen, on four different occasions, the lower half of his body completely immobilized by what is known as a hip spica cast.  Just typing out those three words fills me with disgust.  Let’s just say that I wouldn’t wish a hip spica cast on my worst enemy. (Yes. It’s that bad.)

I have seen the disappointment on my son’s face when I have to tell him “no” when it comes to certain activities, while telling my other children “yes”.  There are some activities (biking, trampolining, climbing, etc.) that he simply should not do.  Ever.  We’ve seen what small accidents/falls can do to his body.  We can only imagine the devastation that would come to him if he were to have a major fall.  I can hardly bring myself to even think about it.

I have witnessed him taking two steps forward in development, and three steps back, time and time again.

I have watched him work so hard to learn certain physical activities that have come so easily for my other children.  Crawling, walking, climbing stairs, pulling to a standing position, cruising, etc.  The aches.  The pains.  The strains.  The sweat.  The tears.  It has been a real struggle for him.  But, despite the many setbacks he’s had, he continues to get back up again and work hard.  He has come so far.  SO far.

I have seen the frustration that this unrelenting disease can bring, not only to the person who is afflicted by it, but also to the many people who love and care for the afflicted individual.

I have learned, over time, that we are in the midst of a battle.  And it’s not just a physical battle.  It’s an emotional battle.  And it is a spiritual battle.

But, I will keep fighting it.  My son will keep fighting it.  And, if you’re reading this right now, you can help us fight it, too.

By reading and sharing this post, you can help us raise awareness for this rare, unmerciful disease.

It is a disease that has tried to break my son, time and time again.  And, there are times when it has succeeded in doing so.  But, nothing can break his beautiful spirit.  Through it all, even though there have been times when his light has started to fade, it has always come back to us…shining brightly for all to see.  Through it all, his contagious joy has remained untouched.  And that’s what truly matters.

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Yes, there have been some very dark times over this past year, but we continue to turn our eyes to God during the darkest of times.  And He continues to pull us out of the darkness and into the light.

Even when it’s hard, our hearts continue to turn to Him – our Refuge and our Strength in times of trouble.  Our hearts cry out, and our bones sing in praise to Him.  Great are you, Lord!

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I’ve said this before, and I’ll say it again.

Haven is the breakable boy with the unbreakable spirit.

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How thankful we are that God brought his unbreakable spirit into our family…

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Join us as we try to raise awareness about this rare disease.

Join us in praying for better/more effective treatments.

Join us in praying for a cure.

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Join us.

For Haven’s sake.

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To learn more about OI:  http://www.oif.org/

To move groundbreaking OI research forward by making a donation:  http://www.oif.org/

To learn more about Wishbone Day (OI Awareness Day):  http://www.wishboneday.com

To listen to Kid President, one of my FAVORITE kids on the planet, discuss his own struggles with OI:  https://www.youtube.com/watch?v=IcZVGjG6LWM

4 Comments leave one →
  1. August 31, 2015 4:09 am

    You are SO STRONG mama. And so is your beautiful boy. He has that contagious smile in almost every picture, what a brave little man. Wishing your family the best in fighting his fight!

  2. Lori Rich permalink
    September 1, 2015 12:06 pm

    What a beautiful emotional message. Your pictures capture so much and his smiles are contagious! Breaks my heart to see a little one (or anyone) endure so much. God bless you and your family. Stay Strong.

  3. Jennifer permalink
    September 4, 2015 3:50 am

    Amazing! You did an amazing job documenting OI and the trials that we face with children with this disease. We are currently raising our grandson who has type III and can relate to a lot of the pictures you posted and information you shared. Thank you!!

  4. September 4, 2015 4:13 pm

    amazing blog.!!! Blogging was not available when our beautiful daughter with OI became a part of our family but you shared my feelings so well. I am sorry to say that our daughter’s cheerful outlook has changed with adulthood and lifelong problems due to OI…You have many more and different battles but have the info on internet to help guide you and your deep faith in the Lord. My faith in Christ is the only thing that has helped me keep going thru all the struggles. Some of the deepest hurts my daughter faces has been with peers and birth family that was never able to care for her or be a positive influence in her life.
    She has always been our foster daughter ( our daughter in our hearts) but never adoptable.

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