George

George is 3 years old and lives in Melbourne Australia with his mum, dad and two brothers. Below, mum Michelle tells the Information Point all about George.

What form of CNM/MTM does George have?

George has centronuclear myopathy but the form of the condition is unknown.

When was George first diagnosed?

April 2008.

What symptoms prompted George’s diagnosis?

When George arrived, he was completely floppy, not breathing on his own and very purple. George was intubated and transferred by the Neonatal Emergency Transport Service (NETS) team to the Royal Children’s Hospital which it was felt would be the best place for George to be and where he could be looked after. Lots of possible diagnoses were talked about from Prader Willi to Spinal Muscular Atrophy, all of which had pretty grim out looks and our little angel had to undergo a barrage of tests as well as two pneumonias. Finally, after most of the tests came back negative, George had a muscle biopsy and two weeks later we had our diagnosis – centronuclear myopathy.

How long did it take to get a diagnosis?

It was a long 12 weeks, before we found out what the future could possibly look like for our darling. It was then also, that we were introduced to Professor Andrew Kornberg, Head of Neurology at the RCH, who was our saving grace and finally was giving us a very positive outlook for George. Since then, George has had a Fundoplication, Gastrostomy and Tracheostomy and has pretty much gone from strength to strength. On July 6, 2008, George finally made it home and has been by our sides ever since and we plan to do everything in our power to make sure he develops to his full potential.

How was George diagnosed?

Muscle biopsy.

What impact did the diagnosis have on you?

Earth shattering.

Have you explained CNM/MTM to family members and what was their reaction?

We have tried to explain as best we can, but it is mostly too confusing for people.

What implications do you think it has it had on your family?

It has completely turned our world inside out and upside down but with many positive experiences as well.

Has it affected you e.g. telling your children, starting a family, genetic counselling?

We won’t be having anymore children now that we know that we carry this variation. We are blessed with three beautiful children already.

Do you have advice for people who are looking for a diagnosis?

Get a biopsy. It’s the only way to know for sure.

What are George’s current symptoms?

George’s progress has been slow but steady. He is on 24 hour CPAP but does come off for brief periods in the hope that one day, he may come off altogether. He still requires constant suctioning. Although he still has profound muscle weakness, George’s movement and strength have greatly improved since birth. George attends his local kindergarten two days a week and he loves seeing his friends there and they all love him. George has an infectious smile and obviously loving and placid nature. He enjoys his older brothers so much, especially when they are entertaining him with their crazy antics and they equally love him. George is part of a large extended family and very much loved by all. We are also lucky to have many wonderful friends that have provided much love and support during this difficult time.

What treatment is George having/has he had?

None.

How did you find a doctor?

Through the Royal Children’s Hospital, Melbourne (RCH), the hospital that George was in from birth.

What has been your experience of the healthcare system and healthcare professionals?

The team at RCH have been so wonderful. Nothing is ever too much trouble and they are always willing to help George in anyway shape or form. However, disability services in Australia are completely lacking and it has been a constant struggle to get equipment for George. Australia is currently looking at a new model called the National Disability Insurance Scheme that would provide funds for the disabled on an individual basis – we completely support such a system.

Has your diagnosis had any health insurance implications for you?

No.

What advice would you give to someone who has just been diagnosed with CNM/MTM?

It’s a long and tough road, especially for kids, but everyday is so precious!! Incredibly, for a little person that has many obvious physical limitations, everyone that meets George, falls in love with his gentle, loving and bright spirit that seems to shine through every bit of adversity and are somehow touched by his life.

What does George enjoy?

George enjoys The Wiggles.

What’s the best advice you’ve been given?

Family friends that have a Downs Syndrome son (36 years old) once said to us; ‘If we knew then, what we know now, we wouldn’t have worried so much. Just live and love!’

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