Osteogenesis Imperfecta … 22.2.2002 to 28.5.2012

Even during my pregnancy, I knew something was wrong with my baby.  Then we did not have gynecologists and my GP, Dr. Geller, delivered Vic on the 31st of August 1974 after a 27.5-hour labor…  I gained (3.6kg’s) 8 pounds during my pregnancy.  Vic weighed 2.5kg’s at birth.  That alone should have been a red alert!

My Dad kept saying “there is something wrong with this baby”.  I got so angry with him when he said that and retaliated by saying “the only thing that is wrong with her is her brilliant brain…”

Vic was diagnosed with Osteogenesis Imperfecta at 18 months.

Osteogenesis Imperfecta (OI and sometimes known as brittle bone disease, or “Lobstein syndrome”^[1]) is a genetic bone disorder. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen.^[2] This deficiency arises from an amino acid substitution of glycine to bulkier amino acids in the collagen triple helix structure. The larger amino acid side-chains create steric hindrance that creates a bulge in the collagen complex, which in turn influences both the molecular nanomechanics as well as the interaction between molecules, which are both compromised.^[3] As a result, the body may respond by hydrolyzing the improper collagen structure. If the body does not destroy the improper collagen, the relationship between the collagen fibrils and hydroxyapatite crystals to form bone is altered, causing brittleness.^[4] Another suggested disease mechanism is that the stress state within collagen fibrils is altered at the locations of mutations, where locally larger shear forces lead to rapid failure of fibrils even at moderate loads as the homogeneous stress state found in healthy collagen fibrils is lost.^[3] These recent works suggest that OI must be understood as a multi-scale phenomenon, which involves mechanisms at the genetic, nano-, micro- and macro-level of tissues.

As a genetic disorder, OI has historically been viewed as an autosomal dominant disorder of type I collagen. In the past several years, there has been the identification of autosomal recessive forms.  Most people with OI receive it from a parent but in 35% of cases, it is an individual (de novo or “sporadic”) mutation. http://en.wikipedia.org/wiki/Osteogenesis_imperfecta

By her 3rd birthday, she had 41 fractures. In her early teens, the number of fractures reduced. I attribute this to the fact that she underwent intensive physiotherapy to strengthen the muscles and to develop ways of protecting the bone.

Vic got married at the age of 21.  Six weeks later she was pregnant.  Up and till today she vows that she was on the Pill.  The doctors urged her to have an abortion.  Vic refused and said that the baby was a gift from God.  It was a difficult pregnancy and on Christmas Day she went into labor.  Jared was born on the morning of the 26th by Caesarean section.  Vic’s body took a pounding and when Jared was six months old both her wrists were operated on – she could no longer lift her baby.  Jared had to go to nursery school…

Twenty-two months later Vic gave birth to Jon-Daniel.  Once again an extremely difficult pregnancy.  Early in the pregnancy, Vic was confined to bed.  Once again her body took a pounding.

In November 2001 she had abdominal surgery to remove endometriosis and the surgeon advised that her tissue was so bad that he was unable to suture the tissue.   She had heart failure on the operating table; in June 2002 her veins on the right-hand side of her body collapsed totally. Her blood pressure is extremely low (58/31 – 55/30) and she always runs into major problems in theatre. According to the Osteogenesis Foundation, it appears as if the tissue is affected worse than normal in Vicky’s case. We do not have Osteogenesis Experts in SA and in the USA they are only interested in helping children.

In Feb 2002 during a vertebrae replacement, the small bowel was ruptured and she developed septicemia. Once again the Drs said that the tissue was EXTREMELY bad. A tremendous amount of tissue, muscle, and skin had to be removed (TWICE) in an endeavor to save her life.   She spent 22 days ventilated, the trauma counselor was called in and we were told she would die.

For 22 days and nights, I never left the hospital.  On day 20 I prayed and asked God to spare Vic just for a while longer.  I begged, made deals, I pleaded.  In the early morning, during my prayer, an angel choir started singing “What a friend we have in Jesus…” Later that day I heard that it was the nursing staff during handover.  Apparently, they prayed and sang every morning at handover but an ill Jewish patient had gotten a court order against this practice.  He had died the previous night.

I knew then that she would live.

In May 2002 she had a colostomy reversal and the surgeon stated that the tissue had degenerated to such an extent that he would never operate on her again. In July 2002 she had back surgery to release a pinched nerve and the Neurosurgeon stated that the tissue in her back is like “water”. The back is degenerating at a rapid pace. In Feb the Dr’s said that she would need major reconstructive surgery. Stomach muscles would have to be built.  Vic develops very high output intestinal fistula. The intestines are painful. The surgeon stated that the intestines would form adhesions and that basically due to the state of the tissue she is doomed. Her hips, knees, and back need urgent surgery. She was too weak to have the surgery.

In 2007 Vic had 18 operations, she spent the majority of the year in ICU and hospital.  Vic contracted every Superbug in the book, she hallucinated, she developed Acute Respiratory Distress Syndrome (ARDS), had the ventilators switched off and continued breathing…

Now Vic has survived 81 operations in total.  The largest majority of surgeries being abdominal surgery.

February 2012 Vic had a G-Scope and Dr. Bebington  spoke to me after the scope and said “No More!”  Tears filled his eyes when he told me he cannot operate anymore.  There is nothing further he can do for her.  She must go home and nature must take its course.  The next morning he spoke with Vic and when he told her that she had two ulcers, sepsis in the abdominal cavity and a partial obstruction.  Vic said “NO MORE OPERATIONS.  I JUST CANNOT DO IT ANYMORE.”

How amazing?  A 10-year journey summarised in 2 and a bit pages – less than 1150 words encapsulated by millions of tears, years of praying… 3748 days of dreadful pain, suffering, and mourning.  My poor child!  When will it end?

Jared BBM Status 25.5.2012:  With God through pain and suffering we will emerge stronger than ever before…  I don’t think so.  We have all been strong for too long…