Chiara Petersen Fox: June 2011

Thursday, 30 June 2011

30th June 2011

Another ERT day for Chiara.

She appears to have more nasal secretion than normal. We got a sample taken while we were getting her infusion just in case she had caught an infection.

She had her dressing changed today and lumen ends changed and cleaned. Chiara has now managed to pull off all the safety stitches of her central line so one more pull and we are in serious trouble.

Thursday, 23 June 2011

23rd June 2011

Today is ERT day.

Chiara got her dressing changed and her lumen ends cleaned and changed.

Her infusion went well again today and the only problem we have is trying to keep her still in her cot and away from all her tubes and wires which seem to be a huge attraction for Chiara.

We spoke with 2 Doctors from Transplant Team today who are still unsure where Chiara will have her transplant carried out. They think given her past medical history of airway issues then ITU may be a safer option for her and also the Doctors in ITU are familiar with Chiara. It has also been decided that Chiara's BMT will come from a cord blood which is from the umbilical cord of a new baby.

We were told also today that the boys were not a match anyway.

Saturday, 18 June 2011

18th June 2011

Well today we took Chiara to her first Grangemouth Galaday. It rained most of the day but it was great to get her all dressed up and get her pictures taken with her brothers and mummy and daddy.

Thursday, 16 June 2011

16th June 2011

ERT day again today.

Chiara got her dressing changed and her lumen ends cleaned and changed. She wriggled as usual but in a playful way rather than in a painful uncomfortable way.

She has so much increased energy now it is hard to believe it is the same child.

Chiara still has NPA in and remains on BIPAP overnight.

Thursday, 9 June 2011

9th June 2011

Today is Chiara's first out patient appointment through at Hospital for her ERT.

We arrived at around 10am. She is given her pre-meds and then taken to their treatment room to have her central line flushed and lumen ends changed, along with her dressing changed. She requires a lot of holding down as she has so much energy now it is hard to stop her doing anything.

Chiara still has her NPA in but I changed this now myself only with supervision.

We had our first meeting with the Transplant Team today. They had not been fully informed with Chiara's stays in hospital or her previous conditions so therefore they require more time to read her notes and get back to us with where the transplant will take place. They did not really give me any information that I didnt already know as I had researched everything myself and updated Richard as I did this. It was a case of what the hosptial didnt or couldnt tell me I would find out for myself.

We were told her transplant would be scheduled for around the end of July which would have given her about 3 months of the enzyme.

I spoke with another mum today whose son had already went throught BMT for Hurlers. This was very reassurring.

Friday, 3 June 2011

3rd June 2011

Chiara's Consultant came to see us early this morning. My stomach still churns when he comes in as I never know what he is about to tell me. Today though it is good news. Chiara's blood tests which were taken for her inflammatory markers have come down. After receiving this result he has decided to let us go home and continue the next couple of days on oral Antibiotics. This is the best feeling ever. Its not even a wee pass, its a permanent going home pass.

We have to stay around until her 4pm Intravenous Antibiotic then we are free to go.

I took Chiara over to Kelvingrove Park today for our lunch as the sun is shining and it is great to get her out in the fresh air.

What a beautiful day to be going home. The smile on my face is from ear to ear.

We left at around 5pm and will return every Thursday for Chiara's ERT infusions

Thursday, 2 June 2011

2nd June 2011

Chiara slept well again last night. Still on her BIPAP machine and has her NPA in. She is still on her Intravenous Antibiotics.

Chiara's Consultant has arranged a meeting for us and the Transplant Team for next Thursday. Apparently there are multiple donors available so boys are not being considered.

Its ERT day today so Chiara receives her pre meds at around 11.20 and her infusion is started at 12.30. She also has had more blood taken today.

I am hopeful that we will get to go home in a couple of days as I really hate it in here now.

1st June 2011

Start of another new month and we are still in hospital. Who would have thought when we arrived here in April we would still be here in June.....

Chiara slept well. I on the other hand did not.

Spoke with Chiara's Consultant today who is chasing up Transplant Team. I spent most of the morning down in canteen until Chiara was ready to have her Intravenous Antibiotic.

Richard arrived and we went out for afternoon with Chiara.

Arrived back on Ward and were told Chiara's 2pm medication had been omitted as we were not here for her to receive it.

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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