Chiara Petersen Fox: 11th August 2011

Thursday, 11 August 2011

11th August 2011

Well Chiara slept very well last night considering she was in a strange cot in hospital. I had the option to wake her at 3am to give her a final milk feed as she would then be fasted for theatre first thing in the morning. After a long argument with myself I decided against wakening her as she looked in such a deep sleep, although I had already just spent half an hour standing waiting on the milk to heat. She awoke at 5.45am and I gave her a final drink of diluting juice and removed her BI PAP mask and settled her back down to sleep. At 7am the nurse came in and completed her obs chart and tick list with myself for the scheduled theatre at 9am.

Richard arrived up on the ward at 8am as he was allowed to stay close by in one of their spare parents rooms. At 8.15 the Anesthetist arrived to prep Chiara for theatre. We were then told at 8.30am that they were unaware of Chiara's history so therefore another discussion would require to take place before Chiara could go down to theatre. We were told that it would be delayed around an hour. Disappointed now as everything had been going well up until this point. At 9.30am the Anesthetist arrived to say that he would prefer an HDU (High Dependency Unit) bed was reserved for Chiara incase she required to be observed in HDU after theatre. Unfortunately there was no bed available until early afternoon so therefore theatre was now planned for around 12. I was able to give her another small amount of juice to keep her hydrated, only to be given up until 10am. Now we feel really disappointed and up until now Chiara has been really patient and well behaved considering she must be starving and fed up. These things happen though.

After an extremely long wait Chiara the theatre staff arrive to take us down to theatre at 2.15pm. Richard opts to take Chiara into the anesthetic room to have her put off to sleep.

Richard and I go to the canteen while we wait on Chiara's bone marrow harvest being performed. We were told it would roughly be around an hour. At 3.40pm Chiara is brought up to the ward, YEH no HDU admission was needed as she looked fantastic. She was sitting up on the theatre trolley laughing and smiling. She was wide awake and looked in no pain at all. She had 2 small wounds down the bottom of her spine but otherwise no scars to bear from surgery today. Within 15minutes of being back on the ward she is drinking juice and within an hour she is eating dinner. WOW this is fantastic considering her theatre slot was delayed 5 hours because there was a fear she may need to be in HDU. Well done Chiara.

Chiara should have been given her ERT today as well but due to the delay in the harvest she will receive her ERT tomorrow along with the Kidney test which will take around 4 hours.

At around 7pm she has blood taken for FBC as she required a small amount of blood while she was in theatre. She remains on the main ward floor at the moment but will be transferred into a cubicle when the nurses have observed her for another couple of hours. She has settled well again tonight on her BI PAP. That's us now one step closer to transplant.

1 comment:

Lynsey Mcginlay11 August 2011 at 22:43
Night night, chiara, you have been so brave and patient today! Well done! Michelle you would never know she has been in theatre today pics just look like her normal self, smiling away! Give her a big squidgy cuddle and kiss from us all xx
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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, 11 August 2011

11th August 2011

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