Chiara Petersen Fox: 21st September 2011 (T + 27)

Wednesday, 21 September 2011

21st September 2011 (T + 27)

Sorry about the delay everyone in the updates, basically not really very much been happening on a daily basis so really I like to gather up about 3 days worth of information. So here we go...............

On Monday I arrived at ITU to find Chiara extremely well, no temperatures overnight which is great although she did have a small vomit at around midnight for no apparent reason. Chiara still remains off her BI PAP and continues to improve extremely well off this considering all she has went through. We moved out of ITU on Monday and now on a Ward. I actually felt quite emotional leaving ITU (you are all thinking now I am mad) but everyone had been lovely, caring and took an interest in Chiara's condition and made me feel not so lonely as I could have done. Anyway after 4 and a half weeks Chiara and I now embarked on the new chapter of our journey or rather her journey which every way you care to look at it.

Our first night on the ward proved very tiring for myself as because Chiara is still on quite a lot of medications she still requires a fair amount of medical intervention all night and on top of this Monday night Chiara was getting another sleep study carried out to ensure she was coping ok of the BIPAP. Anyway, by midnight Chiara decided to get up and vomit yet again at the same time as the previous night. She settled down to sleep the rest of the night but in our room she was the only one that did. I couldn't settle at all and before I knew it I was up getting dressed to face Tuesday.

On Tuesday Chiara's redness and rash had practically disappeared, which is great as it shows it is responsive to steroids. She remains temperature free, again great news as it shows probably infection free. She remains on some creams, increased dose of Steroid and she received a dose of anti-sickness IV at 10pm to hopefully stop the midnight vomiting. Her appetite is still very good and still has had no signs of requiring an NG tube. Tuesday night remained another sleepless night for myself but Chiara slept well. I have a small problem of her now realising I am sleeping at side of her, so she now sits up and laughs at me through the cot bars, cute I know but at the small hours of the morning........ not so much.

Today she is fantastic, happy, less red but has now become attached to my hip. Everytime I am out of her sight she is crying her eyes out, this could be fun when we get home.......
Her Neutrafils today are over 3, her Platelets are in the hundreds but yesterday she received yet another platelet transfusion. She has been receiving doses of GCSF the last couple of nights but tonight as her count was so good she didn't receive any. We still remain in protective isolation so no visitors yet except for Parents, Grandparents and siblings. Not as bad as you all may think as we have windows which look onto the corridor so she can see all the other kids running around which I think she enjoys as she misses her brothers. We also have a window looking into car park so its great I can sit and people watch.

No idea of when we will be heading home but first thing first we need to get out of isolation and that will be a huge step forward.

I have one request from everyone who reads Chiara's page, on the news tonight was the story of a little boy who potentially may need to receive a BMT. Before Chiara was diagnosed with Hurlers the only thing I ever did was give blood and after now being on the receiving end of being a mother whose child required blood transfusions regularly throughout transplant I would ask if possible you could donate when and if you can. Its a small, painless half hour or so out of your day but without people donating blood my little girl may not have continued to improve the way she has. Also an even bigger request, without donors on the Bone Marrow Register Chiara and other children like Chiara would not be given the chance of a new life through this life saving procedure. Bone Marrow Donors are extremely valuable and my plea is if you have time to enter yourself on the Bone Marrow Register then please please donate. One person is just not enough, there are so many children that require BMT and for some children matches are very far and few between. I realise only now that I was ignorant to how important blood, bone marrow donation and other donations actually were. I probably, no in fact I know I went about with an attitude that because it wasn't happening to me then I didn't really have to pay much attention to important pleas for donations. After living and sharing my girl's story I will now pay more attention and will donate what I can if it can help save a life and hopefully will have continued support with this. It is all too easy to turn a blind eye....................................

Anyone interested in registering as a donor you can go online. www.anthonynolan.org/register
You can also go to East Kilbride Holiday Inn on Sunday 9th October between 10am and 4pm to join the bone marrow list. The down side is you have to be over 16 and under 40 but if you dont fall into this age group then feel free to pass it on to someone who might be eligable.

In Chiara's situation her brothers were not a match, I was not a match but her dad was a match but unfortunately Richard obviously carries the Hurlers Disease. Chiara received a Stem Cell transplant and if it weren't for donation from strangers then Chiara would not have been given a 2nd chance at life and you wouldn't be reading this blog..

Big Thanks

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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, 21 September 2011

21st September 2011 (T + 27)

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