Chiara Petersen Fox: June 2012

Tuesday, 19 June 2012

18th June 2012

Thought it was about time I updated my neglected blog. Chiara is now 6 and a half weeks post transplant. So much has happened in the last couple of weeks I feel terrible for not keeping her blog updated. Anyway, since my last post we were all set to return home on the Friday of Chiara's 4 week post BMT period. On the morning we were due to leave Chiara's rash that was suspected to be allergy related had spread and was very florid and fiery looking. I knew instantly we would be going nowhere in a hurry. As expected when she was examined they confirmed my disappointment that we would not be heading home as it was looking like her rash was developing into GVHD (this is when the new cells recognise her own cells as being foreign and fight against each other) the good news is it is treatable with steroids as she developed this last year during her first BMT. After a couple of days Chiara's skin improved remarkably and a week later than planned we packed up our room that had become home and returned back to our real home. It was emotional leaving the ward as I had become friendly with some many parents and to some degree I had more of a life in the hospital than out of it as I thrived on the adult company I got from the other parents. Chiara ran about the house going from room to room examining everything. That night she didn't settle very well and woke screaming almost in terror. We put this down to the fact that the hospital had become like her home and now her own home environment seemed strange to her. It took a while to settle her but eventually she did calm down. The following day Chiara went out playing in the garden and had a ball. On Sunday less than 48 hours after returning home I went upstairs to find Chiara screaming and riggoring in her cot. She had spiked a temp and looked awful. We quickly drove her back through to hospital. Instantly I suspected a central line infection as I had seen this all too many a time with her. She settled with Paracetamol but within 15 minutes of her line being flushed and in use she spiked another temperature and I could feel her riggoring in my arms, she started to turn slightly blue in her feet and she was needing fluids into her fast. Her line use was stopped and her port was tried to be accessed but unfortunately Chiara's port a cath is not the easiest to insert the gripper needle into. A cannula had to be inserted so that we could manage fluids into her quickly. She was given Oxygen and fluids and after a while started to improve. Cultures were taken from her line to see if this was the source of infection. The following day Chiara was fasted from 5.30am and after a long day she was taken to theatre just after midnight to have the line removed. We remained in hospital for a week to have antibiotic cover for the infection. Today we brought our little girl home to try and focus on the future away from hospitals. Chiara is now able to produce white cell enzyme on her own and no longer requires enzyme therapy and her blood counts have all been good with her incrementing her platelets on her own also. She still has issues with her skin which after a biopsy has shown it is not conclusive of GVHD but suggestive of drug reaction. To which drug we are unaware as she is on so many.

We have a long way to go but feel we have past the biggest hurdle. In December 2011 when Chiara lost her graft I never thought I could have the strength to go through this again with her but I cant believe she done so well through a 2nd BMT. I am very proud of her and what she has come through and also very proud of my 2 boys and how they have coped through a difficult time.

I have said before in my blog posts of everyone's kindness and again I have been overwhelmed by a charity event that takes place every year in memory of my cousins who sadly passed away with Muscular Dystrophy when my dad was presented with £500 in donation to Hurlers. I am very grateful for this and give thanks for considering Chiara.

I wrote this update to the blog last night which was 18th June but today we returned to Yorkhill as Chiara's skin flared up and she was very uncomfortable. Before we left to travel we received the phone call we had always dreaded, Chiara's most recent blood for HHV6 had came back positive. HHV6 was the cause of Chiara losing her first graft. All too soon our bubble had been burst. We had not even managed 24 hours at home. Tomorrow I will travel back to the hospital for Chiara to begin daily Foscarnet treatment in the very big hope that we can save her marrow. Fingers crossed everyone please. Surely my wee Princess deserves a break.

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, 19 June 2012

18th June 2012