Chiara Petersen Fox: 4th April 2011

Monday, 4 April 2011

4th April 2011

As Chiara's mummy I will take over her story .......

Today 4th April 2011

Chiara is still poorly today and even had a slight colour change in her face. Richard (Chiara's dad) arrived home from work and we decided to take her to our local Hospital to be checked over.

We sat in Accident and Emergency for almost 2 hours , Chiara seemed absolutely fine. We were seen by a nurse who recommended we had her seen at the Ward as her Oxygen levels appeared slightly low (these are usually around 96 or over) at around 93. She was taken to the ward where she fell asleep. It was then everything just deteriorated. She went into these apnoea spells she had been having at home although in the hospital she was attached to a Saturation Monitor which showed she was dipping in Oxygen frequently. By around midnight she had blood tests done which showed her CO2 levels to be abnormally high. We were advised at that time that we may want to have family members come to hospital. It was at that moment I realised the severity of it all. My brother and sister in law arrived and sat with us through the further investigations Chiara endured. After several discussion with senior doctors it was agreed Chiara was to return to Yorkhill Hospital and the retrieval team had been sent for to come and collect her. The team arrived at around 4am and she was transferred into an inflatable mattress on their trolley. They explained to us that they would try her on a CPAP machine while transferring her in the ambulance as she was in severe respiratory distress and was struggling to breathe on her own. I felt sick, I could not believe this was happening, only a few hours ago she was happily sitting with us in A & E and now she was being taken from us on a stretcher that made her look even smaller than she was. It was then I had the horrible feeling that my little Princess was slipping away from us. Richard and I made the most unpleasant drive of our life through to the hospital behind the ambulance until we reached a point where the ambulance went out of our sight.

We arrived at the hospital desperate to see Chiara, we were asked to wait in ITU waiting room. It felt like forever, not knowing what we were about to be told. The nurse came and led us through the ITU ward to the end where I saw the crash team, 2 Doctors, nurses and the Paramedics all standing round my wee girl. Instantly I knew what he was about to say, it was what I dreaded. Then he said, I am sorry but she is now no longer able to breathe for herself and I will have no option but to intubate and ventilate her. I turned and ran out of the room. I feared that once on the ventilator she would never come off. I was urged back into the ward to say my goodbye to her and would be brought back in once she was on the machine.

Richard and I left. I phoned my family and got them prepared for the worst should it happen. Within half an hour we were allowed back into see her her. She looked more peaceful and she was not struggling for breath. Richard and I took up residence by her bed and prayed she would pull through. The next 24 hours seemed to be forever.

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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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Monday, 4 April 2011

4th April 2011

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