Chiara Petersen Fox

Wednesday, 17 August 2011

17th August 2011 (Day 1 of Chemo)

This morning I woke at 5.15am, typical first chance of a complete nights sleep and I wake. I tossed and turned but at the back of my mind was what lay ahead of us today. Mixed emotions, excitement of what could give Chiara her life back and anxiety of all "what if it went wrong".

Richard and I headed over to hospital around 8.30am. Chiara was sitting in her pram bright as a button and happy to see us. She had been given 9 syringes of medication this morning and at 10am her first Chemotherapy would be started through her central line. She was happy and alert. Just her usual self.

10am came and we watched the vial of one of Chemo drugs started. No turning back now.

She fell asleep shortly after. She slept for about an hour. She awoke and by lunchtime had given us quite a few "runny" nappies, effect of drugs maybe as she had been given a few antibiotics.

Another drug was administered at 2pm. We desperately tried to get Chiara asleep to stop her from pulling on the IV line but failed completely as she even at one point tried to get herself out of the back of the buggy.

Another Chemotherapy was administered at 4pm. By this time we were demented as Chiara had failed to sleep and had become extremely grumpy. She had had 3 changes of clothes due to soiling. She ate her dinner at 5pm and by half past had fell asleep on Richard's knee.

We woke a grumpy girl just after 6pm and gave her a bath where she instantly got a new lease of life. We thought, brilliant she will just get milk, drugs and bed. PERFECT or so I thought.....................

She took what should have been her final bottle at 7pm and then I fought with her to keep her awake so I could give her the 10 syringes of medicine. One of which is a sedative. These were given at 8pm. By half past I watched this tired little girl crawl around a cot and pull at her ventilation mask. I lifted her and gave her half another bottle of milk in the hope this would send her off. I tried again to put her to sleep but again I failed as Chiara proceeded to crawl around the cot, she had discovered the control at the back of the bed to make the bed go up and down so this had to be hidden. I lifted her yet again and gave more milk. I laid her back down fingers crossed this would work. I headed back over to Ronald MacDonald for a bite to eat as it was now 9.30pm. I will contact the ward and if she has not settled I will have to return and hopefully get her asleep.

Tuesday, 16 August 2011

16th August 2011

Well today Chiara and I made our journey to Hospital where we will spend the next 3 months.

We arrived around 2pm. Chiara had various tests done, and clerking was completed for her stay. Richard and I booked into the Ronald MacDonald House for the foreseeable future. Chiara was not admitted to ITU until around 6.30pm as there had been emergency admissions which took priority which can I understand.

We gave Chiara a bath, gave her a bottle of milk and she was commenced on her new drugs. The nurse handed us 10 syringes of assorted medication to give her. These would hopefully counteract any effects of the Chemotherapy. She took them very well and we settled her down for the night.

We headed back over to Ronald MacDonald where I would spend my first night of many.

Friday, 12 August 2011

12th August 2011

Well this morning I am exhausted. After a fairly good start to last night with Chiara going down at a reasonable time she awoke at around 9.30pm with us being moved into a cubicle. I had to end up giving her another milk feed at 10pm and tried to settle her but she tossed and turned and moved herself all around the big open hospital cot. At midnight I was still trying to get her into a sound sleep. She had her eyes closed but was moving constantly therefore she was allowing air to escape from her BI PAP mask and therefore I had to constantly keep at her to stop the leaking. I gave her yet another milk feed after midnight and tried again to settle her, by 2am she was due to have her obs taken (BP check, temperature check etc) this unsettled her again and I ended up trying to settle her again, by around 4.30am I was so tired I put her in her buggy and she eventually fell asleep only to be awoken again at 6am by another set of obs being done. I removed her mask and put her down in buggy again. I eventually fell asleep after 6am and was up again at 7am to get showered and dressed before Chiara awoke.

Today Chiara was getting her kidney test done to check if her kidneys are functioning correctly. This was started by a radioactive dye being injected into her central line. I therefore had to wear gloves every time Chiara had a nappy change and the nappy placed in an orange bag into a nappy bin as it was contaminated with radioactive chemical. Chiara had her bloods taken at the start and then again 3 times after. The test ended at 1pm. During this time Chiara had her ERT that she should have received yesterday. This ended at 2.30pm. All in all it has been a busy couple of days for her. We have to return on Tuesday for the beginning of a scary journey with the Chemotherapy starting on Wednesday morning.

Dad came and took us home. We went to my mum and dad's for dinner and Chiara had her bath there where we changed her dressings from her marrow harvest. The wounds were tiny.

Early night for me and my girl tonight.

Thursday, 11 August 2011

11th August 2011

Well Chiara slept very well last night considering she was in a strange cot in hospital. I had the option to wake her at 3am to give her a final milk feed as she would then be fasted for theatre first thing in the morning. After a long argument with myself I decided against wakening her as she looked in such a deep sleep, although I had already just spent half an hour standing waiting on the milk to heat. She awoke at 5.45am and I gave her a final drink of diluting juice and removed her BI PAP mask and settled her back down to sleep. At 7am the nurse came in and completed her obs chart and tick list with myself for the scheduled theatre at 9am.

Richard arrived up on the ward at 8am as he was allowed to stay close by in one of their spare parents rooms. At 8.15 the Anesthetist arrived to prep Chiara for theatre. We were then told at 8.30am that they were unaware of Chiara's history so therefore another discussion would require to take place before Chiara could go down to theatre. We were told that it would be delayed around an hour. Disappointed now as everything had been going well up until this point. At 9.30am the Anesthetist arrived to say that he would prefer an HDU (High Dependency Unit) bed was reserved for Chiara incase she required to be observed in HDU after theatre. Unfortunately there was no bed available until early afternoon so therefore theatre was now planned for around 12. I was able to give her another small amount of juice to keep her hydrated, only to be given up until 10am. Now we feel really disappointed and up until now Chiara has been really patient and well behaved considering she must be starving and fed up. These things happen though.

After an extremely long wait Chiara the theatre staff arrive to take us down to theatre at 2.15pm. Richard opts to take Chiara into the anesthetic room to have her put off to sleep.

Richard and I go to the canteen while we wait on Chiara's bone marrow harvest being performed. We were told it would roughly be around an hour. At 3.40pm Chiara is brought up to the ward, YEH no HDU admission was needed as she looked fantastic. She was sitting up on the theatre trolley laughing and smiling. She was wide awake and looked in no pain at all. She had 2 small wounds down the bottom of her spine but otherwise no scars to bear from surgery today. Within 15minutes of being back on the ward she is drinking juice and within an hour she is eating dinner. WOW this is fantastic considering her theatre slot was delayed 5 hours because there was a fear she may need to be in HDU. Well done Chiara.

Chiara should have been given her ERT today as well but due to the delay in the harvest she will receive her ERT tomorrow along with the Kidney test which will take around 4 hours.

At around 7pm she has blood taken for FBC as she required a small amount of blood while she was in theatre. She remains on the main ward floor at the moment but will be transferred into a cubicle when the nurses have observed her for another couple of hours. She has settled well again tonight on her BI PAP. That's us now one step closer to transplant.

10th August 2011

Well today we headed back into Hospital for hopefully only a couple of days for harvest of Chiara's marrow (this is when they withdraw some of her own bone marrow under GA and store in case her BMT fails and they can always put her own marrow back in).

We arrived at Shciehallion Ward where Chiara had bloods taken for coagulation, FBC and viral swabs taken to ensure she has not developed any virus or infection. She was then transferred onto another Ward where she will remain until discharge.

Richard and I had consents to sign with regards the Harvest etc. She is scheduled for 9am tomorrow so that is great as she has to fast from 3am.

Chiara eventually settles down to sleep at around 10pm and I too settle down for the night in the camp bed.

Thursday, 4 August 2011

4th August 2011

Chiara attended for yet another ERT today. She coped well today with her treatment as always.

Richard and I attended a meeting with the Transplant Team, her own Consultant and ITU staff and other medical staff that will be involved with Chiara's BMT. It was all very intense. They told us due to Chiara's known problems with her airway she would be admitted to ITU on the 17th August 2011 where she would start her conditioning (this is the chemotherapy process with the drugs to kill off her own bone marrow). We had it explained to us that she would become very ill and most likely worse than what she appeared in April when she was first admitted to ITU.

She would be given a series of drugs, some to kill of the neutrofils in her blood, some to kill of the lymphocytes in her blood. Both of these protect your body from infection therefore Chiara would be open to any kind of infection which if not controlled and treated could become fatal. We were given a complete breakdown of the protocol involved in transplant for patients with Hurlers. Although they explained to us that she was only being put in ITU as a precaution so that she could have emergency treatment as and when or if she should need it I couldn't help feel extremely worried. After a very lengthy meeting and we were told all the risks and what could go wrong we were asked how we felt about progressing with it. How did she think we felt...... absolutely terrified if truth be known , I came out and asked about life risk and was told that chance is 10 to 15% life threatening and the danger is usually through infection. One of the drugs she will be given could possibly leave her infertile but at this moment that is the least of our problems. As I sat and digested the information that had just been
thrown at me Richard voiced that "at the end of the day we have no choice, if we don't go through with transplant we would lose her to Hurlers so therefore there is no decision to be made," having a horrible incurable disease such as MPS takes decisions such as to transplant or not to transplant out of your hands. All we can do is put our wee girl's life in their hands and pray they can give work their magic at giving her a new life. I am sure a lot of people will probably be thinking twice about what they would do in our situation but no transplant could possibly mean Chiara would have to endure multiple surgeries for rest of her life and unfortunately ERT does not stop the Hurlers affecting her brain. This is our only chance at giving her the quality of life she deserves. As much as it will be the hardest thing for myself and Richard to watch her get sick it will be the most rewarding to then see her improve and lead a near to normal life.

On a lighter note the cheeky little monkey managed to open our "booze" cupboard tonight. I can see she will be worth the watching when she is older.

Wednesday, 3 August 2011

http://www.mpsforum.com/
http://psychicmediumlorna.webs.com/
http://www.mpssociety.co.uk/

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.