Chiara Petersen Fox: 4th August 2011

Thursday, 4 August 2011

4th August 2011

Chiara attended for yet another ERT today. She coped well today with her treatment as always.

Richard and I attended a meeting with the Transplant Team, her own Consultant and ITU staff and other medical staff that will be involved with Chiara's BMT. It was all very intense. They told us due to Chiara's known problems with her airway she would be admitted to ITU on the 17th August 2011 where she would start her conditioning (this is the chemotherapy process with the drugs to kill off her own bone marrow). We had it explained to us that she would become very ill and most likely worse than what she appeared in April when she was first admitted to ITU.

She would be given a series of drugs, some to kill of the neutrofils in her blood, some to kill of the lymphocytes in her blood. Both of these protect your body from infection therefore Chiara would be open to any kind of infection which if not controlled and treated could become fatal. We were given a complete breakdown of the protocol involved in transplant for patients with Hurlers. Although they explained to us that she was only being put in ITU as a precaution so that she could have emergency treatment as and when or if she should need it I couldn't help feel extremely worried. After a very lengthy meeting and we were told all the risks and what could go wrong we were asked how we felt about progressing with it. How did she think we felt...... absolutely terrified if truth be known , I came out and asked about life risk and was told that chance is 10 to 15% life threatening and the danger is usually through infection. One of the drugs she will be given could possibly leave her infertile but at this moment that is the least of our problems. As I sat and digested the information that had just been
thrown at me Richard voiced that "at the end of the day we have no choice, if we don't go through with transplant we would lose her to Hurlers so therefore there is no decision to be made," having a horrible incurable disease such as MPS takes decisions such as to transplant or not to transplant out of your hands. All we can do is put our wee girl's life in their hands and pray they can give work their magic at giving her a new life. I am sure a lot of people will probably be thinking twice about what they would do in our situation but no transplant could possibly mean Chiara would have to endure multiple surgeries for rest of her life and unfortunately ERT does not stop the Hurlers affecting her brain. This is our only chance at giving her the quality of life she deserves. As much as it will be the hardest thing for myself and Richard to watch her get sick it will be the most rewarding to then see her improve and lead a near to normal life.

On a lighter note the cheeky little monkey managed to open our "booze" cupboard tonight. I can see she will be worth the watching when she is older.

1 comment:

Welshy9 August 2011 at 09:22
You are both very brave and l know that the decision you have made is for the best. I cannot imagine what you are going through but she is a fighter and an adorable girl - l look forward to following all your posts and wish you all the best of luck with her future. Good luck to you all and this blog is a great idea so we can all keep in touch with Chiara's progress. love karen xx
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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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Thursday, 4 August 2011

4th August 2011

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