What happens if your child is born with an extremely rare disease and the only hope is to take part in a drug trial hundreds of miles away from your home?

Maddox is 2 years old and to see him running and playing with his sister is nothing short of a miracle in our eyes.

When he was born he was extremely poorly and the doctors had to look to other hospitals for advice on how to treat him. He was diagnosed with hypophosphatasia (HPP) at 10 days old. This condition is an inherited metabolic disease that is a serious, progressive and lifelong condition that can damage bones and organs. His only chance for survival was to take part in a drugs trial that would help strengthen his bones.

The treatment has been amazing though as within just a short amount of time we noticed a difference in his breathing and his strength.

We have to inject Maddox three times a week. This in itself can be traumatic as he is too young to explain why we have to do this and it takes two of us to do it. One to hold him and the other to inject. It is a small price to pay for seeing him running around and playing like any other two year old.

We were recently informed that the trial is coming to an end and the drug company are in talks with NICE (National Institute for Health and Care Excellence) to discuss if they will fund this treatment. We are extremely worried about what the end of this drug trial means for Maddox. We have been told that if he comes off the drug now he will deteriorate and his bones will stop growing. He will likely need to use a wheelchair and get more tired. His consultant believes there is a strong possibility that he is not yet strong enough for his body to cope and there is even a chance he could die once treatment is halted.

As parents all you want is the best for your children, rare diseases by their very nature are extremely complex and as such it takes a huge team to ensure the very best treatment path is open to you. We are hopeful that a solution will be found in time to ensure our son continues to grow stronger and live the life we want for him.

Today he is a happy, cheeky and wonderful little boy

During birth Maddox broke several ribs, both wrists and was an extremely poorly little baby. His progress since being on the drugs trial has been considerable.

Doctors don’t always have the answers

One of the biggest learning curves for the family was the fact that doctors do not always have all the answers.

His sister is a carrier of the condition

Maddox’s sister does not have HPP although she is a carrier.

The outcome looked very bleak when he was born

When symptoms occur in children before 6 months of age over 70% of children die before they reach 5 years old.

The drug trial meant moving to a hospital hundreds of miles away

Our local hospital was not part of the drugs trial and we lived down South so it meant moving to a hospital hundreds of miles away from family and friends for 3 ½ months. It was a lonely time but one that was made easier by the support of staff at Birmingham Children’s Hospital

Drug Trial is ending and the future is uncertain

A mother’s experience

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