Barbara Smith

Photo #1: Mom (Amy) with Christian and baby Conner, 1994
Photo #2: Grandma Barbara Smith ("Baba") and grandkids, 1995
Photo #3: Christian and Conner, 1996

(Note from Carone: I was thrilled to hear from Barb, because I had been following her grandson's story when it aired on national television last year. Barb allowed me to reprint part of the letter she e-mailed me recently so that I could share it with you. I continue to discover what a small world it is...like me, she has a son nick-named JoJo, who appears to have mild OI.)

"My story about Christian (my grandson) is tragic. He has been diagnosed with mild OI. We had Dr. Byer's fibroblast test done and it came back inconclsive. Another experimental test which is non-invasive and done like an x-ray showed he indeed had a low bone density and they diagnosed him with mild OI. As a matter of fact, all of my family--daughter Amy 25, and Joe 21, had the test done. We are all low bone density.

"JO-JO" (Joe) has had 4 broken bones in his life. I always wondered why. I also have a cousin on my father's side who has had more than a dozen broken bones. He says it was from playing sports--now I wonder.

My story is tragic because Christian was taken to a Children's Hospital at 4 mos. of age and he had a slight fractured skull. Amy could not explain how that happened so they did a full body x-ray and found 14 broken bones in various stages of healing. We were all shocked. Amy and her boyfriend Howard (Christian's father) were arrested immediately and charged with child abuse. There was a trial and they were found guilty.

This was a 2 year ordeal--accusation, trial, etc. Amy received 4 years probation and Howard was given 7-15 years in prison. All because of a genetic disorder!!!!! We were persistent and had a letter writing campaign to the attorney's, judges, etc. Howard spent 10 mos. in prison and has been out for a year now. The most horrible part of this whole thing was losing Christian for 2 years.

He has been returned to Amy and she has another child Connor (a girl) who is 20 mos. Amy is doing well -- she's on welfare but I know someday she'll work her way out of that mess. Dad has decided not to be a family man. He sees the children but is cautious. He knows that when Christian breaks again he will be held responsible.

By the way, Christian has had no broken bones since that time -- that we know of. He does have blue sclaera (he'll be 4 in August), and is small for his age. As a matter of fact Connor is as big as he is. Most every tooth in his mouth is pitted or discolored and he does have heavy sweating.

Sometimes I think we're crazy and this really didn't happen. Sometimes I wonder if he was abused. I know he wasn't because I saw him all the time and there was never any bruising or even a fussy baby. He has always been such a great kid. Anyway the "system" never did believe the diagnosis and in Akron, Ohio they don't really think OI exists!!!

Amy is in the process of filling out forms to take Christian to Shriners in Chicago. We want him evaluated because he does complain of back pain once in a while. We can't take him anywhere in this area becuase they know about us and you know he is an abused child. We also have to be careful of how often we take him to the doctor's.

There's a mother in Dayton, Ohio who has an OI child and she is being charged with Munchausen's by Proxy becuase she takes Nicky to the doctor too much!! He has broken bones--you need to take them in to be examined!!! What a crazy system and even though this mother has the doctor's who diagnosed him on her side, the Child Protective Agency will find a doctor to dispute that diagnosis. The Child Protective Agencies have plenty of money and are extremely powerful!"

Note: If you'd like to get in touch with Barb, you can e-mail her from here.

Shari DeLuca

"On February 4, 1995, I had noticed that my son Luke's right thigh was swollen and appeared to be bothering him. I immediately called my pediatrician, who was on call at the hospital and he told me to bring him right in. I then called my husband Anthony at work and told him what the doctor said. He came home immediately and drove us to the hospital.

When we got the doctor examined Luke and then asked our permission to x-ray his leg, which we gave. He then came back to us and said that there appeared to be some sort of trauma to the leg and again asked for our permission to x-ray the rest of his body to see what caused his trauma.

The next thing we know I was being called to phone, and when I picked it up, on the other end was an emergency case worker for the Child Welfare Administration (CWA). She proceeded to tell me that we were going to lose our children and that we were being accused of child abuse. Little did I know that everything she told was soon to be the truth. It turned out that Luke had approximately 20 fractures throughout his body all at different stages of healing. By the way, he was only two months old at the time.

At that point luke was admitted into the hospital as a "Social Issue" under protective custody. On Feb. 6, 1995, I was ordered to bring my 5 year old Mathew, into the hospital to be examined. He was admitted overnight and released the next day without themhaving found so much as a scratch anywhere on his body. Throughout our stay at the hospital I was informed about OI. They soon vehemently denied that he could even possibly have it.

Approximately two weeks later Luke was discharged and went into the first of eight different foster homes with Mathew. My children were in Foster Care for three weeks before I finally got to see them fot the first time. From February to June they lived in different homes, and from June until the first week of September they went through SIX different foster homes. When I asked the agency why this has happened they give me no answer. In foster home number six, Matt was sexually molested by three other children living in that home. We found that out in home number seven when he tried to play his "special game" with Lucas. Seven months later CWA did an investigation and, as expected, they found nothing but did say they were concerned because a four and five-year old could not make something like that up.

Finally, after months of trying, and with the help of the media, we were able to get the kids with family. They are now living with my sister. I am still not allowed to see them except under strict supervision at a CWA office in a REALLY bad section of town. NO ONE in my family is allowed to go to my sister's house. Not even my mother or relative that even live out of state.

On December 22, 1995, Dr. Leon Root of the Hospital for Special Surgery, came and testified on our behalf. My son's newest fracture has him more convinced then ever that he suffers from OI. The judge, who we made aware of the new fracture, knew that we were going to make a motion to admit new medical testimony. She came down with her decision that we were all guilty. We are convince she had her mind made up from the very begining."

This is my story. There are a lot more details, but it would probably take me forever to put them all in. We live in the New York City area and would appreciate any information or resource that others may have. My address is as follows:

Shari DeLuca
24-17 149th Street
Whitestone, NY 11357-3500

Carone Sturm

Jo Jo Sturm at 2 years old

(Note from Carone: The following is an article I wrote for a journalism class two years ago about our introduction into the world of osteogenesis imperfecta. It's rather lengthy, but I'll include it here anyway, as fellow "OIers" may find it of interest.)

"The sky was unusually gray as I left for my hair appointment on that unforgettable day in November, but my spirits were undaunted by the weather. My infant son, Joel, had given me a gummy grin as I'd finished nursing him and kissed him good-bye. It was only the second time I had left the house since his birth, but I knew he was in good hands with my husband, Jon, and I anticipated an uneventful afternoon.

When I returned home two hours later, my newly coifed head full of local gossip, I found our peaceful world inextricably shattered. As I opened the front door I froze, stunned by the sound of my baby's hysterical screams. I raced up the stairs to find Jon frantically rocking our son in a futile attempt to comfort him. Later that day in the hospital emergency room, we would watch our lives spin hopelessly out of control; horrified at our son's condition and numb by the doctors' questions about child abuse.

Joel was born exactly five weeks earlier on a sunny October morning in our southeast Alaska town of Juneau. After an peaceful pregnancy and six-hour labor, Dr. Bob Urata, a caring and well-respected family physician, gently placed our son in my arms.

"Looks like another great center," he joked, referring to the position my husband played on a local basketball team. 'Dr. Bob', as we called him, occasionally scrimmaged with Jon in the city league games.

I was surprised at our baby's continuous crying after the delivery--his sister, Jacie, had calmed quickly following her birth three years earlier. Our doctor's examination relieved any anxiety we might have had, however, and we were soon able to bring home the newest member of our family.

Jon and I took full advantage of the flexible schedule our small business allowed; the seasonal marine magazine we published had been put to bed for the winter. We shared equally in the parenting and housekeeping tasks and enjoyed this special time with our children.

Although Joel was an easy baby, he was often fussy at night and required rocking before falling asleep. He didn't like having his diaper changed, either, which seemed odd. The moment Joel heard the tape rip from the disposable diaper's plastic tabs, he began to howl.

I was also curious about the subtle grayish tone to the whites of Joel's eyes. They seemed slightly cloudy, but I attributed it to the discoloration of the newborn jaundice he'd had, and assumed it would clear up.

None of this caused us much concern--having agonized over every minor fever with our first child, I was now more comfortable with motherhood and had learned to quell my worrisome nature. Satisfied with the clean bill of health he received, I didn't even mention anything to our doctor at Joel's one-month check-up.

So what caused this horrible pain only one week later?

Jon told me that after I had left the house for my appointment, he had simply fed Joel, changed his diaper, and put him in a clean sleeper. The crying that typically accompanied his diaper change intensified after Jon had dressed him, but this time, it didn't stop.

I called our doctor's office and got a short-notice appointment. Frantically, I stuffed items in the diaper bag and scrambled out the door, unable to think clearly over my son's howls. Exhausted, Joel finally fell asleep on the twenty-minute ride to the clinic. But as we lifted him from his seat, he again began the terrible wailing.

Dr. Urata was perplexed. Joel showed no obvious signs of illness or injury. After an examination, he suggested the pain might be the result of a bowel obstruction. An abdominal X-ray would be needed--he'd fax instructions to the hospital immediately.

I grew even more frightened. If our doctor was right, it meant Joel would need surgery.

"He'll be okay," our physician said comfortingly. "This is something we can handle. We just need to know for sure what the problem is."

I had held Joel close to my body to comfort him during most of the exam. So it wasn't until we laid him flat on the exam table to dress him that we saw it.

"Oh my God!" said Jon, "Look at this!"

As Joel lay on the table, both arms flailed frantically in the air. But as he shrieked hysterically, only one of his legs moved. The right one hung limply from his hip. Dr. Urata looked up at us ominously.

"Who's been watching this child?" he asked.

"Us, Bob, us! What the hell is wrong?"

"It may be...dislocated," he said, softening the blow of what I think he must have known at that moment. "Sometimes that happens. Get him to the hospital right away. I'll change the x-ray order."

We gingerly lifted our sobbing son from the table after the doctor padded his hip with several disposable diapers, and we sped for the hospital.

Much of the next several hours is a blur in my memory, although I clearly recall my anger at the technicians who prohibited us from the x-ray room. I knew their policy normally allowed parents to assist. Jon and I nervously paced up and down the halls of the radiology department. Why wouldn't they let us in? And what was taking so long? We could hear Joel's exhausted screams from behind the door.

"There are going to be questions," I said to Jon. "There are going to be a lot of questions."

"But we didn't do anything-I didn't do anything!"

The x-ray technician finally emerged from the room.

"What is it?" I begged. He stammered, and tried to put me off, but I was relentless. In the mix of the noise and confusion, I thought I heard him murmur something about a fractured finger.

"What? His finger is fractured?" I demanded.

"No," he said somberly. "His femur."

"Femur? That's his leg. Are you telling me he has a broken leg?"

A phone call from our doctor interrupted us.

"What's going on?" I pleaded. "They told me that Joel has a broken leg. Babies' legs don't just break like that!"

"You've got to calm down," he said. "And answer me honestly. Do you think Jon was angry with the baby when he took care of him today?"

"Of course not!" I shot back, incredulous that he could even ask such a question. "He's got the patience of a saint!" But my heart stopped as I suddenly remembered how my doctor and I often joked about Jon's ferocious temper on the basketball court. I didn't know what to say.

Joel was finally returned to us and was now, mercifully, sleeping. The x-ray technician had laid him upon a pillow, and warned us to not move him unnecessarily. As we waited in the emergency room for the orthopedic surgeon, a series of nurses seemed to appear, each with clipboards, questions and disapproving glances. I guess I couldn't much blame them for their suspicions. One of them even asked Jon how he had broken the baby's leg.

"Damn it!" Jon said to me hopelessly after she had left the room, "Maybe I should tell them that I tripped and fell while I was holding him."

"Stick with the truth," I insisted. "You didn't do anything wrong."

After what seemed like hours, the orthopedist arrived at the emergency room. He first stopped at the front desk, and I strained to eavesdrop as he spoke by phone to Dr. Urata. "...Well, I know them, too" he said, "and I agree, they just don't seem the type..."

Dr. Reiswig finally entered the room. We had met him several years earlier when he had repaired an injury to Jon's knee. He had examined Joel's x-rays and confirmed that he had sustained a fracture to his leg. Much to our horror, he said he had also found what appeared to be several additional healing fractures in his legs.

"I've got to tell you," he said, "we rarely see fractures in children of this age. This looks like a typical case of battered child syndrome."

We were speechless.

"If it isn't child abuse, the only other possibility is a very rare bone disease called osteogenesis imperfecta."

I knew at that moment that Joel had the disease.

Dr. Reiswig explained that osteogenesis imperfecta is caused by the body's inability to produce a protein necessary for proper bone development. The result is very brittle bones which easily break. He knew about the disease from his medical training, but had never seen an "OI" case and knew few doctors who had. According to his reference books, some affected babies died at birth, while survivors often suffered a variety of symptoms, including dwarfism, repeated fractures, severe bowing of the limbs, dental problems, and hearing loss. It was possible that Joel would never walk.

"The long limbs, especially, are susceptible to fractures, even from the slightest trauma or twisting" he said. "Just dressing him this morning could have caused him to break."

We fired a battery of questions at him, all of which he patiently answered. Joel's condition was not fatal; there was no treatment; his mental abilities would not be affected. He said that our son would probably stop fracturing at puberty because of hormonal changes.

Joel awoke and began to cry. To our surprise, Dr. Reiswig tried to examine his face. Our baby did not cooperate.

"Have you noticed anything unusual about his eyes?" he finally asked.

"Yes!" I exclaimed. I described the slight gray tinge I had observed.

"Many people with this disease have that unusual gray or blue coloring," he said.

Relieved, I felt that he was now certain we hadn't beaten our child.

Joel was soon taken to the operating room, where his leg was set. We joined our groggy son two hours later and found him fitted with what looked like a body cast. It began at his chest and extended down both legs to just above his toes. A large hole was fashioned in the cast below the navel for diapering, and a metal bar crossed above the ankles to allow us to lift and handle him. He looked so helpless, but drugged and calm, seemed much improved.

I stayed overnight in Joel's hospital room--clearly the worst night of my life. As I hovered over his rigid body, both legs frozen in a straight and unnatural position, I battled guilt, remorse and grief. And I found myself almost wishing his injuries had been caused by child abuse--anything but this hateful, disfiguring disease that we were powerless to control!

The following day Joel was taken in for more x-rays. The look on the technician's face told me that more bad news was in store, and the orthopedist soon confirmed it: he believed Joel had suffered several other fractures of various degrees. One of the most severe was to his collarbone, probably sustained at birth. That explained Joel's endless crying in the delivery room.

The following week, we flew Joel to specialists in Seattle, and learned a lot about the disease we could hardly pronounce days earlier. At the University of Washington we met with Dr. Peter Byers, a renowned geneticist who specializes in connective tissue disorders. He first assured me that nothing I had done during my pregnancy had caused the disease. And since it didn't run in either Jon's or my family, it was probably the result of a genetic mutation in his or my cells.

There are four subtypes of the disease, he explained. One is usually fatal and the others vary in severity. After examining Joel, studying his x-rays, and preparing a biopsy, Dr. Byers speculated that Joel suffered from one of the milder forms. He said our son would sustain many fractures in his life, may suffer minor limb bowing, but would probably walk. He had a fifty percent chance of passing the disease on to his children.

"Hey, these bones look pretty good!" exclaimed Dr. Lynn Staheli, an orthopedic
surgeon at Seattle's Children's Hospital, who examined Joel and his x-rays the following day. He found fewer fractures than were earlier suspected, (small fractures are often difficult to detect) and predicted that Joel may very well grow to a normal height. He answered dozens of our questions and then echoed the importance of an issue Dr. Byers had raised the previous day.

"You have got to treat him like a normal kid," he said. "It will be hard at times, but if you try to overprotect him, he'll have a lot more than physical problems."

Our fears for the worst put to rest, Jon and I celebrated over a room service dinner at our hotel, as Joel peacefully nursed a bottle. It was the first time we felt that things were going to be all right.

In the past year, I have met many people with osteogenesis imperfecta. Most of the adults I have spoken with who share Joel's milder condition have sustained anywhere from fifty to eighty fractures throughout their childhood, and then usually stopped breaking around puberty. It's difficult to predict an outcome, however, because every case is different.

Unfortunately for many victims and their families, the trauma of OI often includes misdiagnosis, which may lead to serious allegations of child abuse. Some parents have even had their children taken from them. We were extremely lucky to have had knowledgeable, supportive doctors who gave us the benefit of the doubt.

Our desire to protect our son from fractures is tempered by the realization that he must eventually discover his own limitations. When Joel was ten months old, Jon and I sat in the living room watching him pull himself up to the coffee table as he had done for several weeks. But this time he lost his balance, twisted to one side, and fell. His right tibia--or shin bone--was broken before he hit the carpeted floor.

Months pass without a single fracture, only to be followed by periods of frequent breaks. Thankfully, bones heal relatively quickly at this age, and like most children, Joel is amazingly resilient.

As our son approaches his second birthday, he sports a cast on his ninth major fracture. Nonetheless, he is as happy and active a child as I have ever known. Constantly smiling and ever gregarious, Joel has drawn many a stranger to our supermarket cart with his "Hey, you--hi! " routine.

And, while my husband and I are enjoying these early years, we laugh that we secretly look forward to the onset of puberty, when his condition should improve. Then, from what I understand, we'll have a whole new set of worries.

(Update: Joel, who will be five in October, has had approximately 30 fractures.)

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