Tag: grieving

What can we hope for when there is no hope?


When Brendan (Vic’s gastroenterologist) took me into the passage, outside Vic’s hospital room, and said “No more.  This is the end of the road” my heart stopped.  How can there be no hope?  Brendan has been so brave until that moment.  It was not easy for him to sentence Vic to the “No Hope” section of her journey.

Where does hope live when we hear the words announced to us, “There is no hope”?  We cannot return to life as it was.

Immanuel Kant, who lived and wrote in the 1700s, thought a lot about the kind of subjects we might label as “the eternal verities”: hope, ethics, God, morality, the meaning of life. Kant came up with three questions that he thought expressed the central human concerns. Here are his famous questions:

What can I know?
What can I do?
What can I hope?

What can I know?
“A large part of Kant’s work addresses the question “What can we know?” The answer, if it can be stated simply, is that our knowledge is constrained to mathematics and the science of the natural, empirical world. It is impossible, Kant argues, to extend knowledge to the super sensible realm of speculative metaphysics. The reason that knowledge has these constraints, Kant argues, is that the mind plays an active role in constituting the features of experience and limiting the mind’s access only to the empirical realm of space and time.”  http://www.iep.utm.edu/kantmeta/

 I know I can only address this on an emotional level. 

I know that life is unfair and difficult! I know we are scared – not only of Vic’s painful journey but of what lies beyond her release from pain.  I know I hate seeing my child suffer and losing her dignity. 

I know I love my child more than life.  I know she wants to live.  I know she wants to love, be loved…..  I know she wants the frustration of facing peak hour traffic on her way to work or back.  I know Vic wants a job.  I know Vic wants financial independence, a trip to Italy.  I know Vic wants to attend her sons 21st Birthday parties, see them graduate, and meet the person they decide to spend their lives with.  Hold her grandchild..…grow old gracefully.  I know Vic wants to walk on the beach, see the sun set over the sea….. 

 I know that Vic is tired of the pain.  I know she wants to die.  I know she wants to live.

 I know dying is a lonely journey.  I know it is impossibly difficult to watch Vic grow weaker every day.  I know I am tired of being sad.  I know I want the boys to be happy…..

What should I do?

I know I should honor Vic’s wishes.  I know that I should try and stay positive for the boys sake.  I should fight harder for Hospice intervention.  I should remain cheerful and snap out of my depression.  I should concentrate on the positive moments in our lives.  I should endeavor to find a way of giving Vic peace – enough peace to let go.


What can I hope?
 I wish her pain control will continue to work as well as it is now… I hope that her suffering will come to an end.  I hope that the boys will heal in time.  I hope that we will laugh again.  I hope that Vic will find peace. 

I hope that my beautiful little girl will fall asleep and not wake up.  I hope that God will be with her when the time comes

Pain medication – Dependence or Addiction?


Pain medication – Dependence or Addiction?.. 

 

Pain medication – Dependence or Addiction?


28 days pain medication

What are the different types of pain medication options?

Different strokes for different folk… What pain medication works for one type of pain does not work for a different type of pain.  Simple example: – Morphine does not relieve toothache or headaches….. It relieves bone pain.

Medicines can often help control chronic pain. Many different drugs, both prescription and non-prescription, are used to treat chronic pain. All these medicines can cause side effects and should be taken exactly as they are prescribed. In some cases, it may take several weeks before medicines work to reduce pain. To avoid dangerous drug interactions, tell your doctor all the medicines you are taking (including herbal and other complementary medicines).

Medication Choices

You will likely be given medicines that cause the fewest side effects first (such as acetaminophen) to treat chronic pain. The dose will be increased or the medicines will be changed as needed. Medicines used to treat chronic pain include the following:

Recommended Related to Pain Management

Other therapies that may be used to treat chronic pain include:

  • Nerve block injections. An anesthetic is injected into the affected nerve to relieve pain. The anesthetic may relieve pain for several days, but the pain often returns. Although nerve blocks do not normally cure chronic pain, they may allow you to begin physical therapy and improve your range of motion.
  • Epidural steroid injections (injecting steroids around the spine). Although these injections have been used for many years and may provide relief for low back or neck pain caused by disc disease or pinched nerves, they may not work for everyone.
  • Trigger point injections. These may relieve pain by injecting a local anesthetic into trigger points (or specific tender areas) linked to chronic fascial pain or fibromyalgia. These injections do not relieve chronic pain in everyone.http://www.webmd.com/pain-management/tc/chronic-pain-medications

Vic’s pain medication as at 4.8.2012 (Transcribed from medication received from Pain Clinic

TABLET NO OF TABLETS PER DAY
TRAMADOL 50MG 4 3 TIMES PER DAY
AUSTRELL PARACETAMOL 500MG 2 3 TIMES PER DAY
STILPAYNE 2 3 TIMES PER DAY
CYMBALTA 60 2 1 TIMES PER DAY
NEURONTIN 100MG 6 3 TIMES PER DAY
SRM RHOTARD 400MG (MORPHINE)   2 TIMES PER DAY
ELTROXIN .1MG 1 IN MORNING
BACTRIM 1 3 X PER DAY
LOSEC 20MG 1 IN MORNING
STEMITIL 5MG 1 2 TIMES PER DAY
MORPHINE SYRUP 25MG/5ML AS NEEDED
JURNISTA 4MG 1 1 TIMES PER DAY
PANAFORTE 1 2 TIMES PER DAY
DEGRONOL 2 2 TIMES PER DAY

This is scary.  The amount of opioids Vic takes would certainly kill most people.  Is Vic an addict?  Certainly not!!

Opioids work by mimicking the body’s natural painkillers known as endorphins. They control pain by blocking pain messages to the brain. Because morphine is an opioid, some people worry about becoming addicted. When you take an opioid to control pain, it is unlikely that you will become addicted. The body uses the drug to control pain, not to give you a ‘high’ http://cancerhelp.cancerresearchuk.org/about-cancer/treatment/cancer-drugs/morphine

I read a heart rendering account of chronic pain and the fear of being treated as an addict written by Tracy Rydzy, a Licensed Social Worker.  http://ohwhatapain.wordpress.com/being-treated-like-an-addict/  Tracy writes a heart rendering blog on chronic pain and prejudge that she faces every day.  Tracy writes: “I may be on medication, but I am intelligent and I know what is going on.  Please understand that I didn’t choose this for myself.  I don’t want these damn pills, but I have no other choice right now as I have exhausted my other options for pain relief.  Don’t hold my condition against me.  I understand the pen is mightier than the sword, so I can’t even ask to change dosages, I can’t request anything different, I certainly can’t be rude in any way (regardless of how you treat me) and I can’t question you because you hold my ability to move and get out of bed in your little prescription pad.”

We are so fortunate that we have access to The Pain Clinic run by very sympathetic professionals.  We do not have a problem getting a prescription for the medication.  Our problem lies in the fact that from time to time the pharmacy of the Helen Joseph Clinic runs out of Morphine both in tablet or syrup form.  Sometimes we are able to get a private script from the Pain Clinic and other times I have to go back the next day, sit in a queue again, get the script and then get it filled privately.  Try and get 4.2 litres of morphine syrup from a pharmacy….  Sometimes I am busy and then find it easier to pay a doctor for an appointment to get a script.  We may get a script for 1 litre….

Fortunately Vic’s eldest sister is a pharmacist and we are known to the staff at that particular pharmacy.  The times we have tried to use other pharmacies (because they do not have morphine in stock) we are treated with suspicion.

“Many people confuse physical dependence, which is the occurrence of withdrawal when the drug is stopped, with addiction. Withdrawal is a physical phenomenon that means that the body has adapted to the drug in such a way that a “rebound” occurs when the drug is suddenly stopped. The kind of symptoms that occur include rapid pulse, sweating, nausea and vomiting, diarrhoea, runny nose, “gooseflesh,” and anxiety. All people who take opioids for a period of time can potentially have this withdrawal syndrome if the drug is stopped or the dose is suddenly lowered. This is not a problem as long as it is prevented by avoiding sudden reductions in the dose.

Physical dependence is entirely different from addiction. Addiction is defined by a loss of control over the drug, compulsive use of the drug, and continued use of the drug even if it is harming the person or others. People who become addicted often deny that they have a problem, even as they desperately try to maintain the supply of the drug.

Addiction is a “bio psychosocial” disease. This means that most people who become addicted to drugs are probably predisposed (it is in the genes) but only develop the problem if they have access to the drug and take it at a time and in a way that leaves them vulnerable. A very large experience in the treatment of patients with chronic pain indicates that the risk of addiction among people with no prior history of substance abuse who are given an opioid for pain is very low. The history of substance abuse doesn’t mean that a patient should never get an opioid for pain, but does suggest that the doctor must be very cautious when prescribing and monitoring this therapy.

People with chronic pain should understand the difference between physical dependence and addiction. Unreasonable fears about addiction should not be the reason that doctors refuse this therapy or patients refuse to take it.

Tolerance to opioid drugs occurs but is seldom a clinical problem. Tolerance means that taking the drug changes the body in such a way that the drug loses its effect over time. If the effect that is lost is a side effect, like sleepiness, tolerance is a good thing. If the effect is pain relief, tolerance is a problem. Fortunately, a very large experience indicates that most patients can reach a favorable balance between pain relief and side effects then stabilize at this dose for a long period of time. If doses need to be increased because pain returns, it is more commonly due to worsening of the painful disease than it is to tolerance. “

Vic is “embarrassed” the amount of medication she needs to take to control her pain.  She is oversensitive to the point of being paranoid about being called an addict.

Is my child an addict?  Hell no!!  Does it worry me that she needs increasing amounts of medication to handle the pain associated with the deterioration of her little body?  Hell no!!  Whatever it takes for one pain-free moment in her little life!  Tracy to you and all the other chronic pain sufferers out there – I wish you all a sympathetic doctor, nurse and pharmacist!

5 Stages of Dying


It became crystal clear to me when Vic yelled at me in the ICU that she had deep-seated anger issues with me and where she was in her journey.  Dying is unknown territory and none of us have walked this road. Yet we are all morbidly curious about dying. Everybody has some shadows of uncertainty.

According to Hospice there are FIVE stages of dying.

1.      DENIAL: “I’m too young to die. I’m not ready to die (is anyone ever really ready?)”  It became clear to me that despite the fact that Vic was sentenced ten years ago she is still in denial. Even after Brendan had informed her that nothing more could be done for her she still clings to her lifelong defiance of death. The prediction from one’s physician of imminent death can do several things. It can give you time to prepare, take care of business, close doors, make amends. The shock begins to ebb as you come to grips with approaching death.  Vic has some doors to still close.  Her business is in order.  She has written letters to her loved ones, bought major birthday gifts and cards for the boys

 2.      ANGER: Suddenly the terminally ill person is no longer in control of their life.  They have no choice any more – the die is cast….. They are going to die. This is really where Vic is now.  She has lost control of her life.  At the age of 37 she is living in her mother’s home, decisions are made for her she has become a child again.  Her anger on Sunday morning was directed at me.  Her profuse sense of helplessness and loss of control is however not a new feeling.  Vicky has endured a long, debilitating illness.  Doctor error has robbed her of a life.  Illness has robbed her of her dignity.  She is angry with God for allowing this to happen to her.  She is angry for God not taking her.  On Monday afternoon she said “Mommy, God does not even want me…”She has been robbed the opportunity to see her sons complete school, university, get engaged and eventually marry……  Many people die too early but at 37 it is mainly due to misfortune, wrong place wrong time, an accident…..  At the age of 27 Vicky was sentenced to death…..

 3.      BARGAINING: I do not know what bargaining Vic has done with her God.  I know that I have made lots of bargains with my God.  Just one more Christmas….. Just one more birthday…..

 4.      DEPRESSION: Knowing that you are dying must be depressing!  This must be a normal part of the process of preparing to die. Vic is depressed about her inability to deal with her responsibilities. Vic is too ill to get away from the symptoms of her illness …..  She waits for death every day. Vic is depressed about the pain that her illness is causing her sons, friends and family.  Vic is depressed because she feels that she has failed her sons.   Vic is depressed because she is lingering…. Vic is depressed about the loss of love that she has suffered.  Vic is depressed period!  But with good reason.  Antidepressant’s are part of the pain control regime.  If it is helping for her pain that is great.  I hate to think what her mental condition would have been if she had not been on antidepressants.

 5.      ACCEPTANCE: Vic is not at this stage yet.  This is one of the main reasons why we need Hospice.  Brendan (her Gastroenterologist) referred her to a councillor last year to guide her into this phase of her journey.  Vic went a couple of times and then it became a matter of budget – medication or counselling.  Medication won.  Hospice defines acceptance as follows…”Acceptance is NOT: doing nothing, defeat, resignation or submission.  Acceptance IS: coming to terms with reality. It is accepting that the world will still go on without you. Death is after all, just a part of LIFE.”

I see absolutely no peace in Vic.  She is still kicking and fighting.  At times she may fool herself into thinking or believing that she has accepted her situation but it is crystal clear to me that it is not the case.

We met as a family on Tuesday evening to discuss all our frustrations.  It becomes difficult to handle one’s day to day frustrations as we have different agenda’s.  A while back Vic asked my permission to give up.  She spoke to the boys.  We cried and gave her “permission”. 

The family immediately went into palliative mode.  No demands or expectations for any normal functionality from us to Vic….. Therein lies the issue.  We became an “Us” and “Her”… “Us” became the protectors and “Her” became the invalid.  We tippy toed around Vic.  The boys stop bothering her with everyday issues like “Can we go to the movies”; “please pick me up at 16:00”; “Do I have to go to extra lessons?” When we walked into her room and she was sleeping we would turn around and walk out.  We would show no concern for the amount of pain medication Vic was on. 

It is so easy to slip into a “mode”.  I took all responsibilities out of Vicky’s hands, we as a family organized our lives around her pain levels and energy (or lack thereof) levels, we stopped laughing and living in our house.  We were all dying!

When she lashed out at me in ICU I realized that we had serious problems.  Vic was not ready for Stage 5.  She started kicking against death – again.  Her fight is back.

It is however a difficult and delicate balance between pain-free and functional…..  Vic said that she wanted to reduce her pain medication as maybe she would not be so tired all the time.  By Monday evening she was in so much pain that she was vomiting.  She could not keep tablets down….. It took two days to get her pain under control again.

I have also read Katie Mitchells Blog on Chronic Pain and the way that brave lady articulates her battle with pain truly opened my eyes.  I realize now that I cannot take living away from Vic whilst she is still breathing.  I have to let go.  I cannot protect her against pain.  I cannot protect her against death.  I have to try to look at her through her pain filled eyes as I don’t understand pain or her frustration.  I am active and busy.  Today I joined a gym so I can train with the boys.  I do the things with her sons that Vic would LOVE to do!  A couple of weeks ago Vic said “You are the fun person in the family.  You do all the fun things with the boys” Obviously there must be resentment and anger (Stage 1). 

But we live in a civilized home.  We don’t scream, shout or curse.  We bury things under the carpet.  We walk away from conflict so we don’t know what the other is thinking or feeling.  We only see the veneer..… How terribly sad!!  We have lost our ability to function properly.

So from now when I am frustrated with Vicky attempts at doing things for herself or the boys I will leave her be!!  PLEASE God help me!!!!  I am such a control freak!!!  I will endeavor to not stop her from going for a cup of coffee with one of her friends.  I will just pick up the pieces afterwards. 

I have to stop being selfish.  I realize that I was trying to keep Vicky pain-free as it is easier for me to handle!!  Pain free means medication on the strict regime, no strenuous activities, protected and wrapped up in cotton wool.  Vic must make her own painful decisions.  If she wants to take the boys to school who am I to stop her?  Of course she must but not on 400 mg of morphine! 

The problem is that I look at Vic and all I see is that fragile little toddler…… And she is sick.  Very sick!  I want to protect her, breathe for her, die for her.  Vicky is my baby.

Dèjè vu


Image

Today at 16:20 we saw the doctor regarding the results of Jared’s blood tests.

When I saw the pain in Vic’s eyes it propelled me back 35 years ago when she was diagnosed.  I saw the same pain in Tienie’s eyes when Vic was diagnosed with Osteogenesis Imperfecta.  Well not exactly that day, but the day his mother told him that his paternal father had died at the age of 35 from an undiagnosed disease that had OI symptoms…

When Vic decided at the age of 21 to get married Tienie and I really weren’t happy.  We felt that she was too young and the way forward with OI would only get more difficult.  I spent a lot of time talking to Vicky and Colin about OI and the fact that they could never have children.  Vic wanted to get married and those of you that know her will know that once she has made up her mind nothing can or will stop her.

The day of the wedding I sobbed my heart out.  She looked so beautiful!!  I had a premonition of impending disaster… but then again most mothers feel that way when their daughters get married… Vic was just so young and had such a poor prognosis.  I had been a child bride and knew how difficult it was.

Vicky fell pregnant six weeks after her wedding.  The Sunday night they came to tell us I sobbed and sobbed!!  I immediately made an appointment for Vicky and Colin to see the Wits Dept. of Genetics on the Wednesday.  I went with and until today remember the feeling of doom descend on me when the genealogist strongly advised Vic to have a legal abortion.  The baby had more than 50% chance of being born with OI or at best would be a carrier or the OI gene.

Vicky refused flat out to have an abortion.  She said the baby was straight from heaven.

We went to see the gynaecologist and I saw the baby’s heartbeat.  Two weeks later Vic was in hospital with a threatening miscarriage.  She fought for her baby through-out her pregnancy.  I fought with her because of her baby…  I was fighting for Vic’s life.

Tienie was so angry because Vic was pregnant that he refused to speak to her for months.  I went and saw him at his office at cried.  I begged him to put aside his anger and support her – we may lose her in childbirth… Tienie looked at me and said: “We all grieve in our own way.  I wish I could cry…)

Throughout the pregnancy I was petrified that Vic would give birth to an OI baby.  On Christmas Day Vic went into labor… On the morning of the 26th Vic had a cesarean section and gave birth to a healthy, albeit ugly, little son.  When they ran down the theatre passage with Jared in an incubator I caught a brief glimpse of him.  A rush of love, like I have never experienced before, overcome me.  I cried from the wave of love.  Colin stood crying next to me and we just hugged and clung to one another…

As a baby Jared was very ill.  He spent a lot of time in hospital.  At one stage the doctors thought he was going to die – he battled viral infections until he was about 5.  At the age of 5 Jared developed a sugar problem whilst Vic was ventilated https://tersiaburger.com/2012/05/28/22-2-2002-to-28-5-2012/Osteogenesis Imperfecta … 22.2.2002 to 28.5.2012.  Doctors said it was stress related.

At nursery school Jared started injuring ligaments, twisting ankles.  It got worse as he tried to participate in sport when he started fracturing ankles.  At age 13 he was diagnosed as diabetic.  On 27th of July Jared had a Nissin repair https://tersiaburger.com/2012/06/30/a-mothers-love-for-her-sons/ and https://tersiaburger.com/2012/06/28/a-vicious-cycle-of-nerves-2/.

Last week Jared developed chest pains again.  ECG, CT scan, Blood tests and X-rays…Result of CT showed numerous kidney stones.  Results of the bloods read as follows “Low positive ANA titres are often non-specific and may be seen in elderly individuals, following viral infections or tissue damage, or in patients with malignancies.  It may also be seen in normal individuals, relatives of patients with connective tissue diseases, as an early marker in individuals that may later develop a connective tissue disease and in association with other auto-immune diseases, e.g. rheumatoid arthritis”  We will firstly see a Urologist to resolve the kidney stone issue and then a Physician.  Maybe it is nothing to be worried about.

When I got home today Vic asked me what was wrong.  I tried to lie to her but she saw right through me.  When I showed her the blood test results she just sobbed.  I saw the pain that Tienie felt all the years of her life, the guilt of knowing that a faulty gene has passed from parent to child…

Jared is strong and resilient.  I have faith that he will get through this trying time stronger than before.  I am confident that it will not be too serious.

I wish with every fiber in my body that Jared could have a sterilization operation that this curse can come to an end.  One way or another I am going to break this child’s heart when I have the “Please do not consider procreation until there is a cure or a way of isolating the faulty gene…”  We have touched on it but I am afraid it will have to be a serious chat.

My heart breaks for my child.  I wish she could go through this phase of her journey without this pain and worry… I wish that I had never said to her “I don’t know if I can go through this again…”  I wish I never heard her say “Mommy do you want me to go to a home?”

I hate my life.  I hate the life my poor child has to endure.  I hate the life that Jared may have to live.

A day in the life of Vic 15.7.2012


A day in the life of Vic.

Addison’s and Vic’s Brazilian Blow-Dry 12.7.2012


ImageWe decided that we needed a 2nd opinion on Vic’s arm.  We had a 10:45 orthopod appointment with her own Orthopod!  (She was treated by the trauma orthopaedic surgeon in hospital)

 Well, the orthopedic appointment did not go well at all.  Firstly, her original orthopaedic guy would not look at her arm.  He is not the treating doctor and it is unethical.  Blah, blah, blah.  If I had gotten a 2nd opinion on her back Vic may have been spared 10 years of absolute hell!!!!!!!!

 Eventually he looked at her knee, which is hurting like hell, and I slipped the humerus X-Rays into the other X-Rays…

 We sometimes forget how every tablet Vic takes, affects something else.  Vic was diagnosed with Addison’s two or three years ago…

 “Addison’s disease

From Wikipedia, the free encyclopaedia

Addison’s disease (also chronic adrenal insufficiency, hypocortisolism, and hypoadrenalism) is a rare, chronic endocrine disorder in which the adrenal glands do not produce sufficient steroid hormones(glucocorticoids and often mineralocorticoids). It is characterised by a number of relatively nonspecific symptoms, such as abdominal pain and weakness, but under certain circumstances, these may progress to Addisonian crisis, a severe illness which may include very low blood pressure and coma.

The condition arises from problems with the adrenal gland itself, a state referred to as “primary adrenal insufficiency”, and can be caused by damage by the body’s own immune system, certain infections or various rarer causes. Addison’s disease is also known as chronic primary adrenocortical insufficiency, to distinguish it from acute primary adrenocortical insufficiency, most often caused by Waterhouse-Friderichsen syndrome. “

So, part of Vic’s medicinal regime is Cortisone twice per day.  One of the side effects of cortisone is  “osteoporosis or other changes in bone which can result in an increased chance of fractures due to brittleness or softening of the bone”.  Hello???  Osteogenesis Imperfecta + Addison’s + cortisone = disaster!!!

Yesterday, we were coldly and clinically informed by the Orthopaedic Surgeon that there was no way that the bone would ever mend properly.  The humerus cannot be pinned due to the danger of sepsis and the fracture is complicated by severe comminution and poor bone quality.  The surgeon said that when her arm is X-rayed in 3 weeks or even in 6 weeks, the fracture will progressively look worse until eventually there will be some callus formation.  Another dismal prognosis!  I wonder if there will be nerve damage and whether she will ever regain full use of her arm.  From the sounds of it she will only be able to come out of the cast and sling in approximately three months’ time.

Today I took Vic to the hairdresser and she had a Brazilian blow-dry treatment.  Now, for those of you who are as ignorant as I was, this is a “hair straightening” process.  Four hours!!  Shame Vic was sleeping in the chair…poor baby!  She is exhausted but it will make her life so much easier for many months ahead.  Vic will not wash and leave her hair – it has to be sleek…Now with this Brazilian blow-dry thing we can wash her hair and leave it!  Bliss!! 

I never saw my late Mom not immaculately dressed with her hair beautifully done.  No matter how ill she was, Mom went to the hairdresser three times a week.  Her nails were always immaculate and Mom would get very annoyed with me if I wasn’t wearing make-up and had my hair in a ponytail.  “Always the lady” was her motto.  As it is Vic’s.  I find it absolutely amazing that she insists on getting dressed most days.  Well, certainly before the boys get home from school.  She does not want the boys to see her in pyjamas. When we wash her hair it must be blow dried…She will not scrunch it or put it up in a ponytail, plait or pin…Vic’s hair has to be sleek…No matter how ill she is.

Her little body is so swollen from the cortisone.  Her face looks like a little chipmunk’s!  It happens from time to time.  What is worrying is that Vic’s blood pressure is steadily increasing.  Addison’s symptoms include low blood pressure…so why is Vic all of a sudden developing high blood pressure?  And Madam will not see a doctor!  What to do?Image

Vic does look so beautiful after her hairdressing marathon.  She is passed out and I know it will take her a week to recover from this outing.  But, it is well worth it!

 

 

 

 

I am dying 9.7.2012


I am dying 9.7.2012.

Facts about Osteogenesis Imperfecta


 I am posting this extract from the Osteogenesis Imperfectawebsite.  It is informative and will give you some idea of the terrible disease called Osteogenesis Imperfecta.The problem with Vic is the Connective Tissue issues.  If she had not had the blotched pro-disc surgery she would have been fine.

Vic is terminal due to doctor error!  Vic will probably die from her frozen abdomen and the issues that arise from a frozen abdomen. That is the short and the tall of it.

 
Osteogenesis imperfecta (OI) is a genetic disorder characterized by fragile bones that break easily. It is also known as “brittle bone disease.” A person is born with this disorder and is affected throughout his or her life time.

  • In addition to fractures people with OI often have muscle weakness, hearing loss, fatigue, joint laxity, curved bones, scoliosis, blue sclerae, dentinogenesis imperfecta (brittle teeth), and short stature. Restrictive pulmonary disease occurs in more severely affected people.
  • OI is caused by an error called a mutation on a gene that affects the body’s production of the collagen found in bones, and other tissues. It is not caused by too little calcium or poor nutrition.
  • OI is variable with 8 different types described in medical literature.
    • The types range in severity from a lethal form to a milder form with few visible symptoms.
    • The specific medical problems a person will encounter will depend on the degree of severity.
  • A person with mild OI may experience a few fractures while those with the severe forms may have hundreds in a lifetime.
  • The number of Americans affected with OI is thought to be 25,000-50,000.
    • The range is so wide because mild OI often goes undiagnosed.

Genetics

  • The majority of cases are caused by a dominant mutation to type 1 collagen (COL1A1 or COL1A2) genes
  • Other types are caused by mutations of the cartilage-associated protein (CRTAP) gene or the LEPRE1 gene. This type of mutation is inherited in a recessive manner.
  • OI occurs with equal frequency among males and females and among all racial and ethnic groups.
  • Approximately 35% of children with OI are born into a family with no family history of OI. Most often this is due to a new mutation to a gene and not by anything the parents did before or during pregnancy.

Testing and Diagnosis

Diagnosis for OI is primarily based on signs seen in a doctor’s examination. When there is uncertainty about the diagnosis, it is best to consult a physician who is familiar with OI. Genetic testing is available to confirm a diagnosis of OI through collagen or gene analysis—a skin sample or a blood sample are used to study the amount of Type I collagen or to do a DNA analysis.

Types

Since 1979, OI has been classified by type according to a system based on mode of inheritance, clinical picture, and information from x-rays. The characteristic features of OI vary greatly from person to person, even among people with the same type of OI, and even within the same family. Not all characteristics are evident in each person. The OI type descriptions provide general information about how severe the symptoms probably will be. Health issues frequently seen in children and adults who have OI include:

  • Short stature
  • Weak tissues, fragile skin, muscle weakness, and loose joints
  • Bleeding, easy bruising, frequent nosebleeds and in a small number of people heavy bleeding from injuries
  • Hearing loss may begin in childhood and affects approximately 50% of adults
  • Breathing problems, higher incidence of asthma plus risk for other lung problems
  • Curvature of the spine

See Types of OI for a detailed description.

Treatment

Doctors who see children and adults with OI include primary care physicians, orthopedists, endocrinologists, geneticists and physiatrists (rehabilitation specialists). Other specialists such as a neurologist may be needed.

  • Treatments focuses on minimizing fractures,  maximizing mobility, maximizing independent function and general health
  • Treatments include
    • Physical therapy and safe exercise including swimming
    • Casts, splints or wraps for broken bones
    • Braces to support legs, ankles, knees and wrists as needed
    • Orthopedic surgery, often including implanting rods to support the long bones in arms or legs
    • Medications to strengthen bones
    • Mobility aids such as canes, walkers, or wheelchairs and other equipment or aids for independence may be needed to compensate for weakness or short stature.

Treatments Being Studied

  • Medications
    • Bisphosphonates such as ©Aredia (pamidronate), ©Fosamax (alendronate) or ©Reclast (zoledronic acid)
    • ©Forteo (teriparatide injections) for adults only
  • Growth Hormone
  • Increased vitamin D intake
  • Physical activity
  • Potential for gene therapy

At this time, there is no cure.

Prognosis

The prognosis for a person with OI varies greatly depending on the number and severity of symptoms.

  • Life expectancy is not affected in people with mild or moderate symptoms.
  • Life expectancy may be shortened for those with more severe symptoms.

The most severe forms result in death at birth or during infancy.
Respiratory failure is the most frequent cause of death for people with OI, followed by accidental trauma.

Despite the challenges of managing OI, most adults and children who have OI lead productive and successful lives. They attend school, develop friendships and other relationships, have careers, raise families, participate in sports and other recreational activities and are active members of their communities.

Managing OI

  • Techniques for safe handling, protective positioning and safe movement are taught to parents
  • Infancy, early childhood and the pre-teen years are often challenging
  • Growth and hormonal changes can affect the frequency of fractures
  • Children and youth learn which activities to avoid and how to practice energy conservation
  • The number of fractures usually decreases in adulthood
  • Following a healthy lifestyle including not smoking, and maintaining a healthy weight is beneficial

History of OI in Medical Literature

There is evidence that OI has affected people throughout history. OI has been recognized in an Egyptian mummy dating from 1000 BC. It has also been identified as the medical condition suffered by Ivan the Boneless who lived in 9th century Denmark. Prince Ivan, according to legend, was carried into battle on a shield because he was unable to walk on his soft legs.

Case studies of fragile bones and hearing loss have appeared in the medical literature since the 1600s.The term “osteogenesis imperfecta” was originated by W. Vrolik in 1849, and the condition was loosely divided into “congenita” and “tarda” by E. Looser in 1906. Van der Hoeve in 1918 described the occurrence of fragile bones, in combination with blue sclera and early deafness as a distinct inherited syndrome.

In the 1970s, Dr. David Sillence and his team of researchers in Australia developed the system of categorization using “Types” that is currently in use. His original four classifications (Type I, Type II, Type III and Type IV) combine clinical symptoms with genetic components. This listing is based on the number of people in the study who had similar symptoms. The types do not go from mildest to most severe. This classification system has been generally accepted world wide since 1979 but continues to evolve as new information is discovered. In recent years, evidence from bone biopsies and other research led to the addition of Types V, VI, VII and VIII.

More Information

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

Chronic Illness versus Terminal Illness


Chronic Illness versus Terminal Illness.