Chiara Petersen Fox

Tuesday, 19 July 2011

19th July 2011

Its 6am and I must have dozed off to sleep as I am awoken by Chiara moving around. The machine has not alarmed so it must be a sign that she has maintained saturation levels. Therefore there is a chance she wont need the NPA in.

I sit nervously waiting on the Doctors to come and tell me the results. Eventually her Consultant arrives and tells me that it looks as though there was no difference having the NPA in as having it out therefore initial impression is that she no longer requires the NPA. She will only rely on the BI PAP machine for overnight sleeping. Her figures from the study shows room for improvement therefore the Respiratory Technicians will adjust the pressure on her machine for tonight to see how she copes with pressures of 10.

I sit and remember and that one year ago today I was standing cleaning my floor when my waters broke and that was the start of my long journey to where we are today. Its been a hard year but worth it, for all her troubles she had brought she is definitely our special little princess there is no denying that.

Chiara has to go down for another Echo cardiogram today. This apparently is all preparation for BMT. Chiara had more bloods taken today and I tried to get a urine sample from her today as well.

We headed out for a late lunch with Uncle Bobby up the West End which was lovely and then back to settle Chiara down for the night without her NPA in.

Chiara has been given a new mask as well tonight so fingers crossed she tolerates the new mask and the higher pressures.

Again I spend the night looking at the figures on the sleep study machine but happily everything looks within range.

Monday, 18 July 2011

18th July 2011

Well today Chiara and I head back into hospital which I am not looking forward to.

Before we go I head to the shops and treat her to a new pair of shoes. This would be her first ever pair of pre-walkers, what a big girl she is getting. Retail therapy always helps.

We head through later on in afternoon. Ward 5 we are going to today.

When we arrive its so nice to be greeted by all the familiar nurses who know Chiara well. Everyone comments on how well she looks and how big she had become. We quickly feel at ease again.

Sleep study commences around 10pm so I settled Chiara down at about 9pm. She was to sleep with her NPA in and on her BI PAP until around 1am and then I was to take the NPA out and put her back on BI PAP to see how she would cope. The sleep study machine would alarm if her saturation levels were going too low or her CO 2 too high. If the nurses felt there was any risk then I would insert a new NPA back in.

I settle down to sleep, fingers crossed that the study goes well.

At 1am Chiara awakes so I take out her NPA and put her back down to sleep only with her BI PAP machine. I lay awake for hours just watching the machine praying it doesn't alarm.

Saturday, 16 July 2011

16th July 2011

Early rise for us all today, so much to do for the Princess's big day.
Not surprisingly we awoke to rain.
Richard was working this morning so he dropped Chiara off at my mum's and myself and the boys set about decorating the Gazebo. All the decorations I had bought were pink, everything was to be pink, even the cup cakes.

I covered the table in the conservatory with cakes and it looked great.

Chiara arrived home at around 1pm and I quickly changed her into her gorgeous party dress and put on her "Birthday Princess" tiara. She was just gorgeous.

Shortly after 3pm the visitors started arriving and before long the place was packed and the party was going. The sun came out for a while and then it started to thunder.

Everyone had a great day I think!!!

We went inside later on and opened all Chiara's presents. She did extremely well and I was so happy that the day had went well.

I was exhausted now as was Chiara and everyone else.

Friday, 15 July 2011

15th July 2011

Well today is a bit manic. We are having a party tomorrow for Chiara's 1st birthday. Weather has been great this week but now looks like rain tomorrow. Typical, after everything she has went through she at least deserves some sun on her party day. My brother is coming down later to put up a huge gazebo so the party will still go ahead.

Community Physiotherapist came to visit Chiara today. Chiara performed delightfully for her, by rolling over, sitting up alone, standing against the furniture. It was great to see and the Physio was very impressed and said she would be letting Hospital Physio know how well Chiara has caught up. Eventually daily physio with her every day has paid off. Chiara is full of determination so I am doubtful that she will let anything beat her.

Rest of the day goes well, the usual cleaning the house in preparation for party. Kevan arrives down to put up Gazebo. My sister arrives later and we set about cake baking and organising for tomorrow.

Tomorrow is so special and I want it to be always remembered as only 3 months ago it was a day we never thought Chiara would live to celebrate. She is a little miracle and very brave.

Thursday, 14 July 2011

14th July 2011

School holidays this week but we arrived at the hospital for Chiara's ERT earlier than normal which is so surprising.

Chiara had her pre meds, dressing changed and lumen ends cleaned and changed all by about 10.30am.

We spoke with Chiara's Consultant today who says it looks as though Chiara's transplant wont be taking place until August. She has to be admitted into hospital on Monday to have sleep studies carried out on Monday night and Tuesday night so therefore she will be waking up on her birthday in hospital. It has been discussed amongst the Doctors that Chiara's NPA proves high risk for trauma which should be avoided during transplant due to the risk of increased infection etc. The sleep studies will give the Doctors an idea if she still requires the NPA in or if her BI PAP overnight would be enough to cope with her airway problems. If she is unable to tolerate not having the NPA in then a Tracheotomy is being considered. This means the Doctors would have instant access in the event she needed emergency ventilation during transplant. All sounds very scary but I know they Doctors are just making sure that everything is in place in the event should she need it. Her Consultant told us that the Trachea would only be a temporary measure and would be taken out shortly after BMT.

Chiara also had to give a sample of urine so it can be checked to see if the GAGS ( the build up of the bad enzyme) has reduced any. She had bloods taken today for immunity etc.

Transplant Team spoke to us and told us decision has been made to have Chiara in ITU during BMT. Richard and I had long chat with them about all the procedures being put in place just in case Chiara should need anything during conditioning for BMT.

Chiara is due her immunisations around now but Doctors have decided to leave it as she will have to restart all her immunisations from the beginning anyway after BMT. I asked regarding the Chicken Pox injection as I know Chicken Pox can be fatal after BMT. This is not available in this country but an antibiody will be given should I feel Chiara is at risk after being in contact with someone with Chicken Pox.

Everything seems to be moving along now.

Thursday, 7 July 2011

7th July 2011

Another ERT day.

Infusion went well as always and she got her dressings changed and her lumen ends cleaned and changed.

The energy Chiara now has is amazing. She also sits up alone as her core stability has improved greatly. Her hearing appears improved also although reading articles, any damage to hearing cant be reversed. We will just wait and see.

We did not see the Transplant Team today so I am presuming that Chiara's transplant is not going to be the end of July as planned.

She still has her NPA in and this is now changed completely by me. I have eventually managed to gather enough courage to have the confidence to insert it by myself. She screams and wriggles as I insert it into her nose and its so upsetting to see her so distressed but after its in and taped she gets cuddles and forgets about it.

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.

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.