Chiara Petersen Fox: 14th September 2011 (T + 20)

Wednesday, 14 September 2011

14th September 2011 (T + 20)

Today is Day 21 of Transplant. 3 weeks on and Chiara is still keeping excellent heath. Eating and drinking are still normal. We had stopped her Thick and Easy (a thickner) in her milk yesterday to see if she could tolerate the milk on its own but after a tiny vomit this morning and a rather large one at lunch we have decided to go back to adding the Thick and Easy.

Monday night Chiara was tried of her BI PAP machine to see if she could sleep all night without requiring the added pressure. Trying to put her to sleep proved to be quite a problem as she is so use to going to sleep with her mask on but after a lot of crawling around the cot she eventually fell asleep. I myself spent a lot of the night phoning over to the unit to check how she was getting on and asking what the figures were on the sleep study machine. Every time I phoned the figures were great but I didn't want to get too excited as it was really only spot checks and the real conclusive result would come from the machine itself once the pattern of the whole nights sleep was uploaded and checked by the Doctors. Anyway after a very anxious night the news was Chiara now no longer requires her BI PAP machine. After long term ventilation at night Chiara is now mask free going to sleep. So happy, happy,happy. She will remain in ITU for a couple more nights to make sure she is coping well without the BIPAP then she will be moved into a ward.

As Chiara's Neutrafils were high on Sunday it was decided to stop her GCSF to establish a more true reading. The result of not getting the GCSF is her Neutrafils will drop slightly but hopefully will increase again without the GCSF. Today they are sitting at 1.2 which is a lot lower than what they were but still good enough not to require GCSF. This will be her 4th day without so fingers crossed the Neutrafils keep multiplying on their own. Her platelets were low today so she required a transfusion of platelets.

Today Chiara also attended Audiology as her hearing seems to have improved and there is some questioning round if her hearing aids maybe slightly loud for her as she blinks all the time anyone talks or she hears a noise once she has her aids inserted. For the first time in 3 weeks Chiara was allowed beyond the double doors to head over to the Audiology Department. Unfortunately the hearing test failed as Chiara was uncooperative at carrying out the test.

Our other news today which is just fantastic and I have kept to the end is that Chiara's blood test taken to see how much of her cells are donor and how much are her own has shown that Chiara is 100% donor. How wonderful and happy do I feel today. I have been on a high all day. In the last few days everything that has happened has been positive so much so that a small part of me hopes that nothing negative comes along to slap us in the face.

Fingers crossed everything continues to be positive and gives Chiara the break she deserves after all the bad luck and ill health she has had.

Through all this she still remains a happy, dancing, delightful beautiful girl who can put a smile on anyone's face that happens to pop into see her.

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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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Wednesday, 14 September 2011

14th September 2011 (T + 20)

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