Chiara Petersen Fox: 130 days post transplant

Saturday, 31 December 2011

130 days post transplant - what a year

Sorry for the delayed update on Chiara's progress but life has been pretty hectic. After Chiara's last admission she was discharged home on the 22nd December 2011. We were so excited to be getting her home for Christmas. She still wasn't 100 percent herself but was certainly a lot better than what she had been. Her story was to be published in the Glasgow Herald on Christmas Eve, Richard and I as her parents were so proud.

We were to return on Christmas eve to have her observations checked and her bloods checked. As we sat anxiously waiting we just couldn't wait until we returned back home to prepare for Santa. Our anxiety turned to fear as Chiara's FBC (full blood count) returned as showing she had platelets of only 2 and her Neutrafils had dropped to below 1. Her Haemaglobin was also low and she was to receive a platelet transfusion and blood transfusion and also an infusion of GCSF to try and boost her Neutrafils. My stomach heaved as I suddenly thought all our plans and hopes for our lovely family Christmas were just about to be shattered. She received her GCSF and Platelets but her blood was going to take around 12 hours to be ready for transfusion so left later on Christmas eve afternoon and returned home. We would return on Boxing Day to receive her blood transfusion.

Christmas in the Petersen/Fox household on Christmas morning was magical and exciting as all 3 children scrambled round the living room opening presents. It was a dream come true to be spending Christmas morning together as a family in the comfort of our own home when only just over a week ago Chiara was connected to a ventilator.

Boxing Day came and Chiara and I travelled through to hospital for 9am. She had her routine FBC taken and again we waited on the result. We already knew that she was to receive a blood transfusion but added to that she would again require another platelet transfusion as her platelets were only 2. She would also require more GCSF as her Neutrafils today were 0. This was just my worst nightmare, what was happening no one knew. We would return on the 27th December 2010 for routine checks.

The 27th came and we attended for routine checks. Her FBC came back as showing no Neutrafils and Platelets of 1. Now we were faced with the news that we had always dreaded hearing, her new bone marrow graft was failing. Chiara was admitted to hospital on 27th December and on 28th December was taken to theatre where she underwent bone marrow biopsy. The knots and sickness I felt in the pit of my stomach I cant even begin to explain. These feelings grew worse as I entered the Consultant's room to be told that there were very little cells available from her new marrow and was looking like she was going to be needed a 2nd transplant. I went to pieces and sobbed like I've never sobbed for months. All our hard work and effort and everything Chiara had gone through had been for nothing. We were told there was always a chance that it was just a virus that had caused this and we would receive results on Friday.

On Thursday Chiara deteriorated and her breathing became hard work for her. She was extremely irritable and agitated. Not the girl we all knew. It was heart breaking to watch. Early hours of Friday morning Chiara was admitted into Intensive Care. She underwent a CT scan for fear that she had developed a bleed on her brain due to the low platelets. My stomach again heaved, how on earth could all this be happening. She returned from the CT scan and we were told that after the CT scan they had aspirated her stomach and drew back about 20ml of blood, I wanted to turn and run away, my immediate thought was she had internal bleeding due to the low platelets. However, her CT scan showed no abnormalities and the doctor didn't seem too concerned about the blood from the stomach. It was possible that her irritability was caused from her Morphine withdrawal or simply due to her virus. She had come back positive for Rhinovirus a 2nd time. She was commenced yet again on Morphine and antibiotics. Later Friday afternoon we had a meeting with her Consultants. After discussions with other medical staff and transplant centres the general consensus was that it was possible that Chiara's marrow had been suppressed due to a virus or a drug. It was also noted that she had developed antibodies in her blood and it could be possible that these were destroying her platelets, Neutrafils etc before they even reached her bone marrow. This news albeit not great was better than the thought that she was losing her graft.

Today (Saturday) Chiara was commenced on her new infusion to try and destroy the antibodies. She seemed more content today than she has in days. She remains in ITU on CPAP. She will receive Platelet transfusions on a daily basis and blood transfusions as and when she requires it. Her tiny body is covered in bruises and a blood pricked rash due to the low platelets. This is not how I imagined I would be spending the last night of 2011 or rather hoped I would not spending. I head into 2012 with my 2 boys and Richard at home, myself in a hospital room and my daughter in Intensive Care. What do I have to celebrate about 2011, absolutely nothing, my only hope is that 2012 is a better year for all of us.

Happy New Year to all my friends, family and everyone who has followed Chiara's story.

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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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Saturday, 31 December 2011

130 days post transplant - what a year

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