Chiara Petersen Fox: 12th October 2011 (T + 48)

Wednesday, 12 October 2011

12th October 2011 (T + 48)

Well this morning, Chiara awoke happy and smiley, as she always is. She had a great night sleeping as she went down last night at 6.30pm and that was her until 7.30am this morning. Richard arrived bright and early this morning so we all managed to go for breakfast together. Over the last couple of days I have come to realise actually how amazingly good Chiara has done through this whole BMT. I have had so many of the medical staff tell me how amazing it is that she has not required an NG tube for feeding or for medication through this whole process. We were also extremely lucky that Chiara did not develop any problems with her mouth in that we had been prepared for her developing ulcers etc but she never did.

At 12noon today Chiara received her last dose of IV antibiotic and had a repeat blood test carried out. Today was a turning point in all of our lives as Chiara handed over her BIPAP machine as she no longer required it. Not having to be ventilated at night time will have a huge impact in our whole family's life. We were given 2 bags of all Chiara's medication that she will be on for the foreseeable future but this was a small price to pay for having a healthier girl.

At 2.30pm Chiara, Richard and myself made the exciting journey of leaving the hospital and heading home with our girl for her to start her new life. We will have a couple day visits back and forth but at this moment do not intend to make any more long stay.

Tonight I sit writing this from the comfort of my own home again. Tonight Chiara for this first time since 20th July 2010 (day she was born) is sleeping in her own room. Her brothers leave tomorrow to go on holiday with their Nana and Papa so sadly she wont see them this week but it feels so good to be all under one roof again. Today is the first day of the start of a new life for us all.

We have all come such a long way since that horrible day in April but have all come out the other end having coped with everything that was thrown at us. It is a well known saying that what doesnt break you will make you stronger and in this case it is so true. I have went from being someone who was at breaking point with no way of seeing any light at the end of the tunnel to being a stronger person than I ever thought I could be. Along our journey I have met some wonderful people, and without some of these people, my life in the hospital would not have been as easy to cope with.

We know Chiara has to endure spinal surgery next year but for now I am going to enjoy our time together as a family and try and forget the first months of her life that we were robbed of.

Thank you to everyone who supported us over these last few months. We could not have done it without the help you have all given.

1 comment:

Sandi14 October 2011 at 02:11
I have been following her journey over the past few months. I am so glad to hear that she is home at last! Hope all continues to go well for you!
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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, 12 October 2011

12th October 2011 (T + 48)

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