Chiara Petersen Fox: 23rd August 2011 (Day 7 of Chemotherapy)

Tuesday, 23 August 2011

23rd August 2011 (Day 7 of Chemotherapy)

Well we have now reached the 7th and final day of Chemotherapy. After an eventful day yesterday I did not have a good nights sleep. I phoned the Ward every 2 hours only to be told she was comfortable and all her readings were good. My final call was at 7.30am this morning and unfortunately this time I was told she had suddenly become Tachycardic, high temperature of 40.5 and starting to go down same route as yesterday. They had commenced Oxygen and Doctors had been called.

I headed straight over to find her more responsive than what she was yesterday but her heart rate was over 200 (this should be 140 or less). Her temp was still high at 39. She was off the Oxygen and quickly settled back down, her ATG drug had been slowed down and 2 fluid bolus had been given. They had tried to give her Brufen to reduce the temperature but this had made her sick. I hate you ATG.

At around 9am I gave her a bath as this helped reduce her temperature last night and in turn then lower her heart rate. She seemed to bounce back yet again to her normal playful self.

Temperature came down to 37 and gradually her heart rate reduced down to under 140. She fell asleep in her buggy and all her readings looked back to normal. Her ATG was commenced as this was now running several hours behind and this had to finish quickly as she still had another ATG of 17 hours to run today to keep on track for the Transplant tomorrow.

She managed to eat lunch well again today and was playful and slept well in afternoon.

I bathed her and weighed her to find she has gained another 4 ounces. (Well done Chiara, not many people gain weight going through Chemo). She is now 20lb 11 which is fabulous for Chiara as she has done so well to have gained 7lb in under 4 months and manage to position herself on the 50th centile when in April she was completely off the chart as she was so underweight. I gave her only 7 syringes of medicine tonight and then her milk. She settled well and hopefully will have a good night and be prepared for her life changing event tomorrow.

Today the schools returned after 8 weeks of summer break. I missed my 2 gorgeous boys heading off in their new uniforms but as we do every year pictures were taken and sent to me. I'm sad I missed them but I am sure they will understand. I also missed out on the opportunity of seeing my lovely niece in her uniform on her first day of school, unfortunately this is a day I will never get back and I am sorry Paige I missed that.

Tonight I am so tired but not sure if I will sleep as tomorrow could be the first day of a whole new life for my wee Chiara, fingers crossed and praying she doesn't reject it. She couldn't start her new life on a better day as tomorrow is also her brother Lindsay's birthday. Sadly I will also miss this but I am sure he will agree if me not being there gives his sister her life back then it is probably the best birthday present he could ever have asked for. x

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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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Tuesday, 23 August 2011

23rd August 2011 (Day 7 of Chemotherapy)

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