Chiara Petersen Fox: August 2016

Monday, 15 August 2016

Now age 6

What can I say it's been 2 years since I last posted so quite a lot required to bring the blog up to date. Sadly I was prompted to update Chiara's blog due to the increase in diagnosed children with MPS1H Theses diagnosis are all over the world and like myself and our family the families of these affected children are desperately looking for answers, hope, miracles and with their heads full of questions they are turning to the Internet in hope of news to give confidence that their child will live a life the the full. By keeping Chiara's journey up to date I hope that families can find some answers they are looking for and take comfort from our girl's life so far and all obstacles she has overcome. She has inspired others by the courage she shows and fear/defeat does not seem to be a word she has in her vocabulary or emotions.

April 2016

As everyone already knows Chiara's hearing has always been an issue so it came as no great surprise to us when she started showing signs of hearing loss. along with this she had abnormal snoring and a sleep study carried out overnight to measure her saturation levels was reported as showing some slight "dips" in her sleep suggesting her oxygen intake was being compromised at times. We had already experienced this and sleep apnoea in MPS kids was not uncommon. Chiara went under anaesthetic and had adenoids and tonsils removed again not uncommon in MPS kids. Also her hearing loss felt to be attributed to "glue ear" therefore she had grommets inserted into both ears. This made a huge difference with hearing tests being reported as good and snoring albeit never disappeared it was not as bad.

In July 2016 as a family we managed to go abroad on holiday. 2 weeks of normality, where no one knew Chiara's history and she could blend in with the other kids. This was a fantastic opportunity for us to show that MPS had changed our lives there was no doubt about that but our girl was not defined by MPS and with family support and encouragement will make the most of her quality of life. Chiara was 3 years post transplant and living her life to the full.

In March 2015 Chiara was admitted to Glasgow to have a bilateral hip reconstruction carried out. This was something that as a family we knew would be required at some point but nothing ever really quite prepares you for what it involves. Chiara's surgery lasted around 8 hours. We had been told that it may not be possible to achieve bilateral reconstruction during one operation therefore once we past the 5 hours we knew that the surgeon had managed to achieve this. We were taken to see Chiara in intensive care post op. She was in a spica cast hip to ankle both sides with a solid bar between both legs for stability. She looked fantastic although upset. The following day Chiara was transferred to the ward, and was requesting to sit up, this proving a bit tricky, As the days progressed Chiara on day 3 was out of bed and in a wheelchair, she had an epidural for pain relief but this was removed and she managed her pain on oral pain relief. Less than a week post op she was discharged home where her rehabilitation would begin. Needless to say 6 weeks later when the cast was to be removed she had almost worn away the knees as she had been pulling herself across the floors to hold on to her independence not liking the wheelchair dependency.Once cast was removed we were discharged home and within 2 days Chiara's walking had returned.On last X-ray her hips were adapting to this surgery, for how long we don't know but we will take each day as it comes.

August 2016.

Well this month saw our brave girl put on a school uniform and accepted into mainstream school with assistance from enhanced provision. This was yet another day we never thought we would see. Instead we stood with tears in our eyes while she sat in her classroom, smiled and looked like she had
just been given yet another chance to push the boundaries. Tears were shed from many, the times we
watched her fight for life attached to drips, ventilation machines, oxygen masks and have blood
drawn daily seemed like a bad memory as we stood overwhelmed with emotion to see her sit and begin her education. To date Chiara enjoys school to the max. She can be overpowering, boisterous, loud and cheeky but this seems to be a common theme for our girl since she entered the world.

In December 2015 we suffered a slight decline in Chiara's progress when a spinal X-ray revealed another slight curve at the top of existing surgery scar. She was fitted with a spinal brace and to date still has this. Again in true Chiara style she has adapted and accepted this. No parent wants this for their child but for us it's in the minority of issues, if wearing this brace corrects her curve and no near future surgery is required then it's worth every second.

In April 2016 Chiara required yet another set of grommets to correct the "glue ear". We also await results of MRI to see if she has any pressure on spinal cord.

Chiara speech has developed at such a speed, it was almost as soon as she found her voice we could not shut her up. She continues to have incontinence issues now and again, behaviour proves challenging at times, she requires knee correction and continues to undergo testing and will soon be wearing glasses. Day to day life is as near normal as it can be, life with MPS was never going to be easy, it's a learning opportunity for everyone. Chiara doesn't know or think there is anything wrong with her, in her head I believe she thinks everyone wears a spinal brace, everyone takes medication daily and everyone is as "special" as her. I don't look forward to the the day I break the news to her she has Hurlers so in a weird sort of way although for all these years I have written this blog for other families maybe it will end up being Chiara's source of living with Hurlers and our saviour.

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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OUR LITTLE MIRACLE

Monday, 15 August 2016

Now age 6