Chiara Petersen Fox: 24th August 2011 (Transplant Day)

Wednesday, 24 August 2011

24th August 2011 (Transplant Day)

Today I awoke and reminded myself that today was one of the most precious days of my life, not only was my boy turning 10 years old but my baby girl was receiving the long awaited transplant.

I sat and watched Lindsay open his birthday presents through Skype which was great, I have to admit it would have been better to see it in the flesh but circumstances made it such that seeing him over a computer screen was better than not at all. How thankful I am today for modern technology.

I headed over to the Unit at 8.30am as usual. I had phoned over a couple of times through the night but she had been settled and nothing to report. I arrived at Chiara 's room which now had "STRICT ISOLATION" signs on the door. After I entered through the first set of doors to her room I removed my outer garments and shoes. From today Richard and I will be required to scrub from our hands up to our elbows thoroughly and wear an apron before entering through the next set of doors to Chiara. No bags etc are allowed into her room either. This is all to limit her risk of infection as she no longer has any Neutrafils or Lymphocytes (these are the cells that fight infection.).

She was bright and alert. I washed and dressed her and gave her breakfast as part of her daily routine.

She fell asleep shortly after I arrived. I headed off for coffee and Richard arrived as we had been told yesterday that there was a possibility of the transplant taking place at 11am. When we arrived back at Chiara's room where we were told that it would be 2pm. We gave her lunch and then sat anxiously watching Toy Story for about the 20th time with Chiara. She fell asleep at around 1.30pm. 2pm came and went. We then received a phone call to say there had been a slight hold up with the cells. At 4.15pm the transplant team arrived with the bag of cells. This big life changing item looked like a normal bag of blood. Chiara sat in her buggy at the side of the machine while the stem cells were connected to her central line. At 4.25pm we all sat and watched this tiny bag of red liquid being transfused into our little girl and suddenly give us the hope of that promise of a future with her that we once had before that fateful day on the 29th April 2011 when our dreams and promising future were shattered. By 5.10pm the transplant was over. She had no reaction which was fantastic, she had a slight strange smell around her which to me smelled a bit like burnt sweetcorn. This was from the drug they use to store the cells in. Hopefully this scent will have gone by tomorrow.

She ate dinner but looked exhausted, it had been a long day for her, for us too emotionally. She had her bath, bottle and settled down to sleep.

The only thing we can do now is sit and wait and hope for these tiny immature cells to grow and multiply. We have to pray that from now on she doesn't catch any infections as that can be fatal. Hopefully in a couple of weeks we should know by her blood tests if it has taken and pray she doesn't develop "graft versus host" which is when the new cells start to attack her own body. She gets lots of medicines to help the prevention of this so fingers crossed the medication does its job. Chiara's stem cell transplant was also a full match 6 out of 6 so really we could not ask for any better.

Tomorrow we have ERT and IVIG. Tonight I am too tired to even start explaining what that is ...............

1 comment:

Welshy24 August 2011 at 22:41
fingers crossed and love to all 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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Wednesday, 24 August 2011

24th August 2011 (Transplant Day)

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