Chiara Petersen Fox

Wednesday, 3 August 2011

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Thursday, 28 July 2011

28th July 2011

Well its just after midnight and I have been awoken by one of the sleep study people to tell me that it looks as though Chiara is breathing out her mouth when her dummy is out so therefore she is not getting the best from her BI PAP machine. She tries to change Chiara's mask to a full face mask. Chiara does not tolerate this at all. Chiara fully awakes and we resort back to her normal mask. She fails to go back to sleep and I end up feeding her milk. She eventually goes back over to sleep at around 3am.

Result of the sleep study shows improvement so she will stay on pressures of 12 on BI PAP and no need for NPA and also has been decided no need for Tracheotomy.

All good news.

We get Chiara's ERT on the Ward today which goes well.

Chiara's Consultant comes to tell me that her GAGS in her urine have reduced from 140 to 68 which is good news.

We have in depth meeting with Transplant Team next Thursday to discuss everything involved over next couple of weeks.

I took her down to the Dentist in the hospital as this is another check needed before transplant.

Chiara now has 3 teeth cut through and the Dentist did her first brush.

All in all today has been a good day.

27th July 2011

Well we headed back to Hospital today after a bad start to our day. While out walking Chiara in her pram this morning a bolt snapped and I had to end up carrying her home while pushing the pram.

Anyway, we went to Cardiology at 1.30pm and the result of her most recent Echo was missing so we had to go back round to Cardiology to have another Echo carried out. This time it was more in depth. We headed back round to see the Consultant and sat anxious waiting to find out whether or not she required medication and that would result in delaying transplant. He went over both results in front of us. Her heart appeared normal on the recent echo and she had a 30% fractional shortening which is normal so transplant goes ahead as planned as he says her heart is functional normally.

We are admitted to Ward for sleep study tonight. Her pressure on her BI PAP machine has been increased to 12.

I settle Chiara down for the night and keep my fingers crossed.

Tuesday, 26 July 2011

26th July 2011

Chiara had her hearing assessment today at the Sensory Centre. I was looking forward to the results of this as I am pretty confident her hearing has improved.

Chiara had to turn every time she heard a noise and an animal would appear. She responded brilliantly to this and it appears she is hearing high pitched noises very well but still struggles with the the lower frequency. She was fitted with new wee cute pink hearing aids and will be see again after BMT for further testing.

HAPPY HAPPY HAPPY

Friday, 22 July 2011

22nd July 2011

Today I feel extremely tired. I have been up every half an hour to Chiara as her BI PAP machine keeps alarming as she has a leakage of pressure. Chiara remains unfazed by this though. She remains well without her NPA and her secretions have improved greatly. It is great not to be suctioning her all the time.

After lunch today I received a phone call from one of the Doctors at the Hospital. It appears Chiara's latest Echo has shown a 22% fractional shortening and she has made Chiara an appointment to see a Cardiologist on Wednesday. I explained that Chiara's first Echo was normal and what did this shortening mean but she did not know herself. This only thing she could tell me was that if she required medication for this then it would delay BMT. She said she couldn't risk putting Chiara through BMT if her heart wasn't functioning properly.

I just worried about this the rest of the day. I had built myself up for transplant on 25th and now it seems there is a chance it could be cancelled. I understand totally that they cant risk transplant if her heart is at risk.

Finding today hard, worried regarding her results and finding juggling home life stressful.

Thursday, 21 July 2011

21st July 2011

Today feels slightly strange as usually on a Thursday we are in Hospital for ERT.

Anyway, at around 2pm today I received a call from the Transplant Coordinator. Chiara's dates have now been discussed. Harvest is going to take place around 11th August, with BMT taking place on 25th August. Therefore she will receive Chemotherapy to destroy her own marrow 10 days before this date.

My stomach is in knots. It all seems real now. Even although I knew this is what we were preparing for I am beginning to think nothing can prepare you for it.

Its all very scary. She has been through so much in her short life, that it seems unfair to put her through more. I can only hope that one day she will be glad we did it. She has already went through more in one year than most people go through in a whole life time. Still she smiles through it all and looks as if she hasn't a care in the world. It takes a special sort of girl to be like that.

Wednesday, 20 July 2011

20th July 2011

One year ago today I gave birth to my beautiful Princess. Unfortunately she is wakening up in hospital but we will go home later today after her ERT.

I am up and dressed and ready to leave with her off the Ward at 8.30am.

All the nurses come and wish her happy birthday and she gets gifts from the ward.

We headed down to another Ward where the nurses had decorated her cot for her. Unfortunately Chiara's prescription wasn't going to be up until about 10am.

Joshua, Lindsay and Richard arrived and she was delighted to see them. Also on this special day Chiara had cut her first tooth.

ERT went well today, dressings were changed and so were lumen ends.

We spoke with one of the Respiratory Doctors who wants Chiara to come in again next week for sleep study to have her pressures increased again on her BI PAP. Chiara was now completely NPA free.

We left hospital late afternoon and headed to my mum and dad for a birthday dinner for Chiara.

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.