Chiara Petersen Fox: 3rd October 2011 (T + 39)

Monday, 3 October 2011

3rd October 2011 (T + 39)

Well it has been a few days since I have updated Chiara's blog but nothing major to document.

Chiara remains fabulous, so much so she looks a bit of a fraud.

On Thursday Chiara received what was hopefully her last infusion of ERT. Her urine has been sent away to check her GAG level and her bloods were taken to check her enzyme level and depending on the results of these that will determine whether she receives another dose of ERT. Hopefully no more ERT for her and we can put that part of her life and illness behind us.

Her Graft V Host rash seems to have cleared well after her increased dose of Steroids so fingers crossed Graft V Host stays away.

On Friday we had a lovely visit from Papa and went for lunch and a play in the park which was great and we all had a super time.

On Saturday it was my birthday, not the nicest of places to spend your birthday but that's life, I spent last years birthday in Stirling Royal so at least this year it was a different hospital. Saturday was a strange day it was mixed emotions and mood. A few things happened which I wont go into but I think I was beginning to feel like a caged animal. Anyway later on in the day Richard and the boys arrived and we had a wee birthday night in Chiara's room.

On Sunday Chiara and I went into town and met Nana, this was the first time in 6 weeks that my mum had seen Chiara so to be honest I wasn't sure how the day would go. At first Chiara seemed really strange and pulled some funny faces at my mum but within a wee short while she was laughing and at ease again with her Nana.

Today (Monday) Chiara has had all her IV medicines changed onto oral, therefore this is the start of the discharge process for us YE HA, within a few days we could be heading home. Chiara needs to remain in for a few days after changing onto her orals so her blood can be monitored to ensure her Cyclosporin levels are remaining at the correct level. We will return after discharge at least twice a week to have blood checks etc. She remains on medicine for her blood pressure but this looks to have returned to normal or at least stabilised which is good. Her steroids have been reduced by 20% every 48 hours so today we are on a really small dose. The down side of having her IVs changed to orals is that it is extra oral medicine syringes Chiara has to take.

Currently Chiara receives orally 7 syringes of medicines at 8.30, 2 syringes at 12noon, 2 syringes at 2pm, 1syringe at 4pm and then another 6 at 7pm. On top of this she will now receive Cyclosporin at 10am and 10pm and another anti-fungal and steroid. She manages all these so well and I admire her for being able to take these orally without any feeding tube. I myself, sometimes struggle to take even 2 Paracetamol.

To make things clear for everyone, if Chiara behaves, manages to take her medicines all orally and keep good blood levels, rash doesnt reappear and she doesnt spike any temperatures then we could be home to watch X-Factor in our own house at the weekend. All cleaners and anyone willing to empty the overflowing laudry basket that is no doubt waiting for me at home are all welcome to go and make a start on the house before I come home. Richard mentioned getting industrial cleaners in so I am now wondering what sort of a mess am I coming home to..........................................how bad can 3 boys/men mess up a house!!!!!!!!!!!!!!!

Yesterday her results are as follows:

White Cell 7.8
Hb 93
Platelets 44
Neutrafils 5.5

1 comment:

thelaird10 October 2011 at 11:33
enjoyed our visit sunday, especially when Joshua had you laughing with his stories about living with Nana and Papa, there might be more when we take them to Portugal on Thus,might see you before then , if not we will keep you updated on how our tan is,remember you take care nane o this no eaten no sleepin lark, you ahve to keep well for Chiara LOL POPS
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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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Monday, 3 October 2011

3rd October 2011 (T + 39)

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