Chiara Petersen Fox: January 2012

Wednesday, 11 January 2012

11th January 2012

Since my last entry Chiara was commenced on Foscarnet for her HHV6 virus. Her blood counts have all increased and today was the first time in over 2 weeks that Chiara never received her daily Platelet transfusion. She, in herself is back to normal and jumping all over the place. We did however have to wait for her Chimerism result which tells us who the counts belong to, if its Chiara's cells growing back or if we had managed to recover the donor cells. Later this morning I received the news I didn't want to hear, unfortunately there were no donor cells to be found. We now face a 2nd transplant. I am however, calm and coping with it a lot better than what I would have done this time last week. We have a plan for where we go from here and in my eyes at least we can have a plan because believe me being in here there are so many people worse off than us that deep in my heart I just know they don't or cant ever have a plan. I look at Chiara today and I am thankful that she got through the last 2 weeks of what could have been potentially fatal. What has happened to her new marrow is annoying, unfortunate and extremely unlucky but it has happened so we just need to move forward.

Chiara will remain on the Foscarnet for around up to 2 weeks, she will be given a period of around 2 months to regain her strength and around that time she will undergo her 2nd BMT from whom her donor will be her daddy. He will have the chance to do the most wonderful thing and that is give his wee girl another chance at a normal quality of life. Although Richard carries the disease he has enough white cell enzyme in his blood to give Chiara what she requires. When parents are carriers of Hurlers they both carry lower amounts of white cell enzyme that non Hurlers carriers have. He carries more than myself and is a full match for Chiara. I know he will take great pride in giving his daughter the gift of life. We are hopeful that she will not endure as intense Chemotherapy as previously albeit still hard to go through.

I do not look forward to the weeks and months we have ahead but have great faith in that this will give Chiara the chance she deserves.

Two things spring to mind..................someone once gave me a card for my purse called "Footprints in the Sand" and its not until now I fully appreciate the meaning. Wise words once spoken to me "God will only give you what you can handle". If this is true then I am telling him now...................enough is enough no more can I handle.

But then again what doesn't kill you only makes you stronger.........

One night I dreamed I was walking along the beach with the Lord. Many scenes from my life flashed across the sky.

In each scene I noticed footprints in the sand. Sometimes there were two sets of footprints, other times there was one only.

This bothered me because I noticed that during the low periods of my life, when I was suffering from anguish, sorrow or defeat, I could see only one set of footprints, so I said to the Lord,

“You promised me Lord,
that if I followed you, you would walk with me always. But I have noticed that during the most trying periods of my life there has only been one set of footprints in the sand. Why, when I needed you most, have you not been there for me?”

The Lord replied, “The years when you have seen only one set of footprints, my child, is when I carried you.”

Friday, 6 January 2012

6th January 2012

Well I am not really sure where to start tonight or how to explain it but I am going to try and present it as best as i can. Last night was a very difficult night for me to write Chiara's blog as I felt it was probably the first negative piece of news I had ever had to write regarding her diagnosis, treatment and transplant. Up until last night Chiara had defied all odds against her and surprised everyone who came across her so to be writing what I did last night filled me with sadness.....however in true Chiara style she turned things around.

Today we were awaiting Chiara's old cells being transfused into her when I was told it was being put on hold for a few hours. Chiara had been tested for a virus called HHV6 (which is of the herpes family) in most people this can be dormant or active but cause no symptoms but in immunosuppressed or transplant patients it can be fatal. Yesterday we were told she had one positive for this and one negative so therefore it wasn't really sufficient evidence to conclude that was the cause of her bone marrow failing. This morning I was told that old blood samples of Chiara's had been looked at again for this virus and there was another positive. It had been pointed out that these results could actually be from the donor and not from Chiara but it would be difficult to confirm. Therefore today a sample was taken from Chiara's mouth. Later on today we were told that the sample confirmed it was Chiara that carried the virus therefore she could be given treatment to halt the virus and hopefully let her blood counts recover and maybe a chance that the donor cells would regrow. This to me is nothing short of a miracle. My gut instinct told me days ago that there was more to Chiara's illness and I had to ensure every avenue had been explored before the cells were transfused. Well today I got my answer. Not only this but Chiara woke this morning bright eyed, bouncing with fun and back to her usual feisty self, a side I have not seen for a long time.

I cant explain how I feel tonight, its a mixed bag yet again of emotions and also anxiety and hope of the next step in the treatment. I certainly didn't think I would be writing a blog entry with this context that's for sure.

Princess Chiara fights on ...........

Keep your prayers, thoughts and healing going everyone as it definately works.

Thursday, 5 January 2012

5th January 2012

Well since my last blog post it has been a somewhat mixed bag of emotions over the last 5 days. After finding out Chiara could possibly have an antibody causing her problem, we then discovered that treatment for that hadnt worked. I had prayed and willed those counts to come back up but they never did. She was screened for several viruses as she still appeared unwell. Today she came back HHV6 positive and I thought this was the answer we had been searching for. Later on in the afternoon I was given the news that Chiara's marrow was now only about 10 to 15 % donor and the rest was her old marrow coming back. At it stands the now Chiara has zero neutraphils so therefore she is at higher risk of catching an infection. The decision is now out of our hands and tomorrow Chiara will receive her old marrow back again. The plan is that by topping her up with her own cells this will give her an immune system to fight off the virus. She will commence ERT again and hopefully when she is well enough in around 2 months we will go through our 2nd and final chance at a transplant. Although the news was devastating I am handling it better than I thought I would.

Chiara in herself seems to be getting better each day unaware of what lies ahead of her. Keep positive is all I keep hearing but I have to admit I find it very hard when its 1 step forward 15 steps back in Chiara's new path of life.

We all now have to juggle the stressors of life at a hospital, life living apart and of course life trying to raise a child with Hurlers.

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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