Chiara Petersen Fox: 25th September 2011 (T + 31)

Sunday, 25 September 2011

25th September 2011 (T + 31)

Well today sees the end our Chiara's 5th week in hospital and starting on her 6th and if you had asked me 6 weeks ago how I felt about embarking on a long haul stay and a terrifying experience of transplant I would have said "I am absolutely dreading it" but in actual fact the time has passed quite quickly, I am not denying that on days I had "lows" but equally on days I also had "highs". I look at Chiara now and see that however scared I was of putting her through transplant it was the correct and of course the only decision myself and Richard could have made. Her progression and development from transplant alone has been amazing. I look at this little girl who can now sit unaided, sit up from lying down, pull herself up at furniture and now stand and have to remind myself that at the start of June 2011 Chiara was still unable to sit unaided and we faced the future of her having of delay meeting even the simplest of milestones. On Friday I was told that my wee girl now no longer looks so much the baby she once was but is developing into a little girl, although this is hard to accept as no one wants their baby to grow up I at the same time have a smile knowing that she has reached a point that back in April 2011 I never thought she would reach.
Anyway, on Thursday I was told that Chiara's IV medication were going to start being changed onto oral. This is extremely good news but as equally a nightmare as it is yet more syringes of oral medication Chiara has to endure. Anyway I also was given the fantastic news I could take Chiara out, not just around the hospital but actually outside in the fresh air. I thought I was weeks away from going outside with her but on Thursday I was delighted as I now knew I was approaching a step closer to going home. Chiara got wrapped up and out we went.

Unfortunately that one day soon turned into a wee nightmare as later on that night Chiara woke up vomiting and just not herself. On the Friday morning she awoke grumpy, covered in a rash again and off her food. She was started on Steroids again and changing her IV medications to oral was put on hold for the time being. She was given maintenance fluids as she was a little bit flat looking. She didn't eat so well for the rest of the day but she picked up after lunch which was good as her Papa arrived to see her and had not seen him for 4 weeks. By later on that night the rash had faded but she was still off her food.

On Saturday she awoke in better spirits, was drinking better and was attempting to eat small amounts of food. Her brothers and Richard came today and we all went out for a walk to the park which was lovely as Saturday was a glorious day. Chiara was definitely getting back to herself. The rash was better again today.

Today (Sunday) Chiara is back to herself. There is one wee small problem, she has developed high Blood Pressure but this can be a side effect from the Steroids and the Cyclosporin medication she takes. She had a slightly positive fluid balance this morning so she was given a water tablet which resulted in the heaviest wet nappy ever. This wasn't enough to reduce her Blood Pressure so she was commenced on a Blood Pressure tablet. Apart from this new wee problem Chiara remains brilliant, happy, eating well again and sleeping well without her BI PAP. She had visitors today, Uncle Gary and Auntie Linda who I think were pleasantly surprised by her.

Her cells also are still sitting at 100% donor. So all in all everything is still good.

To top it all off I am charging on with my online Christmas shopping in here!!!!!

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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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Sunday, 25 September 2011

25th September 2011 (T + 31)

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