Chiara Petersen Fox: 22nd May 2012 (Day 19)

Tuesday, 22 May 2012

22nd May 2012 (Day 19)

Well tonight I write Chiara's update with a smile from ear to ear.

I headed home on Sunday night to spend time with my boys. I left comfortably in the knowledge that Chiara was recovering well. Her counts were continuing to rise and on Sunday they were 0.8 therefore for the first time in 3 weeks Joshua and Lindsay were allowed to visit their sister. It was fantastic to have them altogether again and Chiara was so happy, screaming and scrambling over them.

I arrived back to hospital on Monday to be told that Chiara's Cyclosporin (her anti-rejection) drug was going to be changed from IV to oral which meant that was another step closer to home. How close, I didn't realise until Richard said that it would or could be very soon as long as Chiara remained in the healthy state she was and she had a good holding Platelet count and good Neutrafil count. To go home soon would be fantastic, she was in 8 weeks for her first transplant and I came in with the view that's how long we would remain and anything sooner was a bonus but never imagined it could be as early as just a few weeks. As hard as it is I am trying not to get my hopes up as something is usually lurking around the corner to burst my bubble despite my positive mental attitude.

The side effects of her anti-rejection drugs are starting to show, her Electrolyte blood tests are showing her to have slightly low Magnesium, Calcium and Potassium despite oral substitutes. She has had several infusions to try and replace this but until she stops her Cyclosporin then I have a feeling this is going to cause a problem. We always knew that the Cyclosporin would be toxic to her kidneys but its outweighed by stopping graft rejection.

Today the sun was beating down therefore Chiara and I were allowed to go out of the hospital to the park, loved loved loved it. We ran into a slight sad hurdle on our way out, Chiara initially was happy to be toddling through the ward having left her room until we made our exit out the Ward doors, she then started screaming and cuddled herself against the wall, she look scared, I didnt realise how much she had become dependent on her room and the familiar, safe surrounding it provided for her. Sad to see I have to say but before long she had overcome this and was enjoying freedom. To be walking through a park with Chiara 19 days post transplant looking as good as she does was just a joy. When I returned my day was crowned with the news that Chiara's bone marrow Chimerism has been reported as 100% donor. She sits today with counts of Neutrafils of 1.6, Platelets 281 and Haemaglobin of 91. I am so happy as is her Daddy who has now proven his marrow was definitely the "good stuff". Hurlers patients only need to have 25% donor to replace the White Cell Enzyme they miss so to have 100% is just a bonus. Chiara was 100% with her first transplant but this time round we are determined not to let this one slip away.

To date Chiara still remains NG tube free which is amazing since she is on over 20 oral medications per day. Her appetite is good and remains on a normal diet. She still has a way to go and we still have worry of her developing infections but we will take each day as it comes.

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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, 22 May 2012

22nd May 2012 (Day 19)

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