April 3, 2014

David Garland

ALPHA 1 ANTI-TRYPSIN DEFICIENCY – A FATHER’S SAD TALE

David was motivated to write this paper so that the experience that his family has gained may be available to any other persons who are diagnosed with this very rare condition. He suggests that GPs should order exploratory blood tests for all patients with breathing difficulties.

Alpha-1 anti trypsin (AAT) or (A1AT) deficiency is an inherited condition. A mutation in the AAT gene gives rise to absent, abnormal or decreased levels of the AAT protein. Without functional AAT protein, the small air sacs of the lungs (alveoli) become damaged, causing shortness of breath, wheezing and lung disease. The accumulation of abnormal AAT protein in the liver contributes to liver damage, causing cirrhosis. This has led some to describe AAT as the only condition where you can get ‘emphysema without smoking and cirrhosis without drinking’. When a person is deficient in Anti- Trypsin there is a risk of serious harm to the lungs. Because of this, patients with known Alpha 1 Anti-Trypsin deficiency must consider their life style decisions such as employment, environment and especially smoking.

Although AAT is extremely rare with around 1 in every 2,500 persons in Australia affected, all asthma sufferers should have the blood test to eliminate this possibility and if discovered their treatment and management should be modified.

Our daughter was born at St. Helens, Christchurch Women’s Hospital in 1968. During my wife’s pregnancy the doctor was aware that the RH negative syndrome had been evident at the birth of her second child, a son born in 1962. Because of the perceived risk to the new baby a blood sample was taken upon her birth, rapidly analysed with a decision taken to conduct a blood transfusion immediately following her birth. She was in intensive care at Christchurch Hospital for two days prior to being united with her mother for return to the family home.

Our daughter’s childhood and youth years were uneventful with no evidence of any respiratory difficulty. Around the age of 15 years, like so many other young people she started smoking. There had been no experience of smoking in her home, peer pressure was the motivator. She received considerable encouragement from her family to quit but to no avail. At age 19 she commenced her career working in the clothing garment industry (recognised as a dusty environment) firstly as a machinist advancing to pattern making and later to production management. Two years later she married and over the next few years had two daughters but sadly the smoking continued.

Around 2002 both she and her husband occasionally showed symptoms of asthma which over the next couple of years caused our daughter to be admitted overnight to Hutt Hospital with breathing difficulties. In mid-2004 she was again admitted to Hutt Hospital and this time was seen by a Registrar who had only that week arrived from the United Kingdom. He was not satisfied with her condition and said, “I think there is some thing different here” and ordered the simple blood test to measure the Alpha 1 Anti-Trypsin. He discovered the deficiency and ordered a genome test that confirmed that our daughter definitely was afflicted by this genetic hereditary problem.

When she informed her GP about her condition he had no knowledge of the condition and she provided him with a considerable amount of information. Following this diagnosis and further investigation our daughter was advised that her lungs were so badly damaged that the only remedy was for her to undergo a lung transplant. This dramatic information was sufficient for her to immediately cease smoking.  Sadly the damage was already done. Although smoking does not cause this problem there is no doubt that it certainly dramatically advances the damage to the lungs. She was immediately placed under the supervision of the Respiratory department at Auckland Hospital and also Hutt Hospital.

Our daughter was a very independent and focused person. She was not prepared to accept the inevitable but also was not prepared to wear a medic alert bracelet or carry a portable oxygen machine with her at all times. She visited the Respiratory department at Auckland, initially annually and in the last two years, twice a year.

Over the last three years she took the advice of the Medical staff and attended a gym weekly, later twice a week when the hospital had medical staff to supervise her. Her gym activity was undertaken whilst using oxygen. She invested in a treadmill for use at home again with oxygen support.

Over the past two years Sue’s typical situation was that in the small hours of the morning she would wake and need to have a cough. Often she would need to use a nebuliser and often oxygen. She would get back to sleep and then rise around 8 am and again have a good cough. She was then off to work where she had a very senior position as production manager with a very supportive private company who accepted her condition. Because of the value to this company that she provided they were able to find meaningful employment for her husband so that he was able to give her support if necessary.

Our daughter’s responsibility required her to make business trips to Shanghai once a year. The company sent her husband with her to provide support. An interesting detail is that she always commented that while in Shanghai she felt better than any other place.

Because of her condition she never ventured any where without either her husband or one of her daughters. Occasionally during this period when she awoke in the early hours of the morning with breathing difficulties her husband took her to Hutt Hospital where she was put on a ventilator. Sometimes when she had a lung infection she would be given anti-biotic treatment. These periods in hospital were usually less than six hours before she was able to return home and to work.

When she and her husband visited the Respiratory/lung transplant unit in around August 2009 she was advised that her condition had deteriorated and that some damage was noted to her heart. The forecast for her transplant was recorded as around 5 to 6 years. During that and the later visit she and her husband undertook various tests and consultations with various specialists in preparation for the Transplant. They and the family were very aware of the seriousness of this procedure and were told that only 50% of transplants patients were successful and of those, only 20% survived after two years and those required anti-rejection drugs for the rest of their life. Armed with this knowledge our daughter, her husband and their family were extremely positive for the future especially with the time line because their daughters would be young adults at the time of the procedure.

In March 2010 Sue her husband and their daughters again visited the Respiratory/ lung transplant unit and received the heartening news that her condition had significantly improved and that now the forecasted date for the transplant was 8 to 10 years. This was great news and confirmed the great success of the fitness programme that she was undertaking. She was priding herself that she had gone quite some time without any lung infection.

But in mid-June 2010 she got a lung infection and was taking a course of antibiotic.  She spoke with her parents who were travelling in Canada around 20 July noting that she was still having problems and that the medication did not appear to be having an effect. Sadly in the early hours of 26 July she awoke as often had happened previously, and had a cough. She urgently called on her husband to get her Oxygen and then to urgently call the ambulance. Two ambulances arrived very promptly and transported her to Hutt Hospital with two paramedics administering CPR en route to the hospital.

Shortly after being admitted she suffered a Cardiac Arrest. Because of her condition she was transferred to the ICU at Wellington Hospital. Following further investigation the medical staff determined that she had a hole in her lung and that this had caused a pneumothorax which in turn had caused the cardiac arrest.

Over the next week she was in a coma and on life support, dialysis, ventilator and full monitoring. Sadly, even though some of the bodily functions appeared to be returning, the advice of the Consultant was that because of the cardiac arrest that she had been starved of oxygen for around 40 minutes and that following the various tests they had conducted the decision was taken to allow her to pass away peacefully, which she did with all her family around her in August 2010.

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