Chiara Petersen Fox: A not so nice lead up to xmas (15.12.11)

Thursday, 15 December 2011

A not so nice lead up to xmas (15.12.11)

Well today is Chiara's brother Joshua's 13th birthday. Sadly yet again Chiara misses another family birthday as today she lies connected to a ventilator.

Last Thursday and Friday Chiara's blood counts had dropped to under one and we had the horrible feeling she was losing her graft as she appeared well and no signs of illness to account for these drops. Later on the Friday afternoon she became grumpy and just generally not herself. After a long battle with myself I decided later on that night to take her through to hospital. She presented there well, no temperature and breathing normally. On checking her oxygen saturation levels it appeared she was only 88%. She was started on antibiotics and 1litre Oxygen. She had a fairly unsettled night and by the morning she seemed to be getting a little worse. On Saturday morning she had an xray. We were informed later that this was awful and her lung had collapsed and she could possibly have Pneumocystic Pneumonia. Once again I had that terrible feeling in my stomach and literally felt sick to my stomach. What was to follow the next few days we did not know or rather not prepared for.

Sunday she was still lively but her Oxygen requirement had to be increased and she was started on more antibiotics. Sunday afternoon seemed to change drastically so quickly. She started working harder to breathe and her Oxygen requirement was being increased more and more. Within half an hour she had deteriorated so much that she was completely Oxygen dependent. She was then transferred from the Ward to Intensive Care. She was tried on BIPAP for a few hours but she still had enough energy to climb all over the cot and sit up. Her saturation levels were dropping slowly and not managing to increase. We were told she required a blood transfusion also and this would hopefully maybe help he Oxygen levels. The blood would be available around 1 or 2 in the morning. Unfortunately by 2am Chiara had become so distressed that her Oxygen levels just dropped and dropped and I stood and watched them go down to 40 until I could not watch any longer and I left the room. It was then I knew intubation would be taking place very shortly. I sat for around an hour waiting and reliving all the feelings I had went through on that horrible night back in April when she was first ventilated. Here I was 2 weeks before Christmas waiting for my wee girl to be connected back up to ventilator. She was placed on an Oscillator which is a special ventilator that is kinder to her lungs.

On Wednesday Chiara was changed from the Oscillator to conventional ventilator as her blood gases etc were all good and her xray was improving and showing her lung was re inflating. She was found positive for Rhinovirus which basically is just a common cold. Through all this she still remains feisty and has managed to disconnect herself from the vent twice and is keeping medical staff on their toes as she tries to climb out of cot so she is nearly always kept heavily sedated and paralysed. It once again is horrible to watch especially at this time of year but she is making progress. I am only thankful that my gut instinct was right to bring her through to hospital even although she never appeared unwell.

Today we are hoping she will improve even more and hopefully be excubated very soon.

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MPS1 (HURLERS)

Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans - long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. Glycosaminoglycans (formerly called mucopolysaccharides) are also found in the fluid that lubricates our joints.

People with a mucopolysaccharidosis disease either do not produce enough of one of the 11 enzymes required to break down these sugar chains into simpler molecules, or they produce enzymes that do not work properly. Over time, these glycosaminoglycans collect in the cells, blood and connective tissues. The result is permanent, progressive cellular damage which affects appearance, physical abilities, organ and system functioning, and, in most cases, mental development.

The mucopolysaccharidoses are part of the lysosomal storage disease family, a group of more than 40 genetic disorders that result when a specific organelle in our body's cells – the lysosome – malfunctions. The lysosome is commonly referred to as the cell’s recycling center because it processes unwanted material into substances that the cell can utilize. Lysosomes break down this unwanted matter via enzymes, highly specialized proteins essential for survival. Lysosomal disorders like mucopolysaccharidosis are triggered when a particular enzyme exists in too small an amount or is missing altogether.

MPS I is divided into three subtypes based on severity of symptoms. All three types result from an absence of, or insufficient levels of, the enzyme alpha-L-iduronidase. Children born to an MPS I parent carry the defective gene.
MPS I H (also called Hurler syndrome or α-L-iduronidase deficiency), is the most severe of the MPS I subtypes. Developmental delay is evident by the end of the first year, and patients usually stop developing between ages 2 and 4. This is followed by progressive mental decline and loss of physical skills. Language may be limited due to hearing loss and an enlarged tongue. In time, the clear layers of the cornea become clouded and retinas may begin to degenerate. Carpal tunnel syndrome (or similar compression of nerves elsewhere in the body) and restricted joint movement are common.
Affected children may be quite large at birth and appear normal but may have inguinal (in the groin) or umbilical (where the umbilical cord passes through the abdomen) hernias. Growth in height may be faster than normal but begins to slow before the end of the first year and often ends around age 3. Many children develop a short body trunk and a maximum stature of less than 4 feet. Distinct facial features (including flat face, depressed nasal bridge, and bulging forehead) become more evident in the second year. By age 2, the ribs have widened and are oar-shaped. The liver, spleen, and heart are often enlarged. Children may experience noisy breathing and recurring upper respiratory tract and ear infections. Feeding may be difficult for some children, and many experience periodic bowel problems. Children with Hurler syndrome often die before age 10 from obstructive airway disease, respiratory infections, and cardiac complications.
MPS I S, Scheie syndrome, is the mildest form of MPS I. Symptoms generally begin to appear after age 5, with diagnosis most commonly made after age 10. Children with Scheie syndrome have normal intelligence or may have mild learning disabilities; some may have psychiatric problems. Glaucoma, retinal degeneration, and clouded corneas may significantly impair vision. Other problems include carpal tunnel syndrome or other nerve compression, stiff joints, claw hands and deformed feet, a short neck, and aortic valve disease. Some affected individuals also have obstructive airway disease and sleep apnea. Persons with Scheie syndrome can live into adulthood.
MPS I H-S, Hurler-Scheie syndrome, is less severe than Hurler syndrome alone. Symptoms generally begin between ages 3 and 8. Children may have moderate mental retardation and learning difficulties. Skeletal and systemic irregularities include short stature, marked smallness in the jaws, progressive joint stiffness, compressed spinal cord, clouded corneas, hearing loss, heart disease, coarse facial features, and umbilical hernia. Respiratory problems, sleep apnea, and heart disease may develop in adolescence. Some persons with MPS I H-S need continuous positive airway pressure during sleep to ease breathing. Life expectancy is generally into the late teens or early twenties.
Although no studies have been done to determine the frequency of MPS I in the United States, studies in British Columbia estimate that 1 in 100,000 babies born has Hurler syndrome. The estimate for Scheie syndrome is one in 500,000 births and for Hurler-Scheie syndrome it is one in 115,000 births.

ERT (ENZYME REPLACEMENT THERAPY)

TREATMENT FOR HURLERS

Currently there is no cure for these disorders. Medical care is directed at treating systemic conditions and improving the person's quality of life. Physical therapy and daily exercise may delay joint problems and improve the ability to move.

Changes to the diet will not prevent disease progression, but limiting milk, sugar, and dairy products has helped some individuals experiencing excessive mucus.

Surgery to remove tonsils and adenoids may improve breathing among affected individuals with obstructive airway disorders and sleep apnea. Sleep studies can assess airway status and the possible need for nighttime oxygen. Some patients may require surgical insertion of an endotrachial tube to aid breathing. Surgery can also correct hernias, help drain excessive cerebrospinal fluid from the brain, and free nerves and nerve roots compressed by skeletal and other abnormalities. Corneal transplants may improve vision among patients with significant corneal clouding.

Enzyme replacement therapy (ERT) are currently in use or are being tested. Enzyme replacement therapy has proven useful in reducing non-neurological symptoms and pain. Currently BioMarin Pharmaceutical produces enzyme replacement therapies for MPS type I and VI. In July 2006, the United States Food and Drug Administration approved a synthetic version of I2S produced by Shire Pharmaceuticals Group, called Elaprase, as a treatment for MPS type II (Hunter syndrome).

Bone marrow transplantation (BMT) and umbilical cord blood transplantation (UCBT) have had limited success in treating the mucopolysaccharidoses. Abnormal physical characteristics, except for those affecting the skeleton and eyes, may be improved, but neurologic outcomes have varied. BMT and UCBT are high-risk procedures and are usually performed only after family members receive extensive evaluation and counseling.

Chiara Petersen Fox

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Thursday, 15 December 2011

A not so nice lead up to xmas (15.12.11)

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