MADDOX’S BIG ADVENTURE

My son Maddox is full of excitement, he is 5 years old and is thriving at mainstream school, something we never could have anticipated in the first few tentative weeks of his life.

Maddox had a bit of a rocky start, after a two-day stay in hospital, he made it home for one night only. His initial symptom was poor feeding, followed quickly by respiratory failure. He required a nasogastric tube and pressure oxygen. Discussions about ventilation and transfer to Southampton General Hospital paediatric intensive care unit were made. He was put him in a bigger cot in case he required resuscitation. We had a harrowing two weeks.

On the day he was diagnosed I met with two new doctors who I had never met before. They said that they thought they knew what condition Maddox had, but couldn’t be positive until they carried out further tests. The doctors didn’t want to tell me the name in case I researched it online. However, they did eventually; Hyphophosphatasia (HPP). Maddox was 10 days old, of course I googled it…..

‘HPP is an inherited metabolic disease that is a serious progressive and lifelong condition, which can damage bones and organs. This condition disrupts a process called mineralization in which minerals, such as calcium and phosphorus, are deposited in developing bones and teeth. Mineralization is critical for the formation of bones that are strong and rigid’

This bit of information didn’t really sink in at the time but what really stood out was; ‘that when symptoms occurs in children before 6 months of age over 70% of children die before they reach 5 years old’.

I had already spoke with Lewis, Maddox’s Dad, earlier in the day and told him Maddox was having a better day. Lewis is self-employed and was back at work. When he arrived back at the hospital I had to break the news to him, which is possibly one of my worst memories.

We were told to handle Maddox as little as possible and our doctor called around the other main childrens’ hospitals to see if they had treated anyone with this condition. He eventually spoke with someone who had seen a patient in Manchester and we first became aware of a drug trial that was taking place in Manchester, Sheffield and Birmingham Childrens’ Hospitals.

A week later Maddox and I were blue lighted the three-hour journey to Birmingham Childrens’ Hospital (BCH), which was the closest trial centre to home. I cried most of the journey as I didn’t want to be away from my family and friends and, if honest, we weren’t very hopeful about the trial as very little was known about it at our local hospital. The support we received from BCH was wonderful and they were about to tell us so much more about the condition and the impact the trial had had on other children. Ultimately, we knew it was our only hope, without this drug Maddox wouldn’t be here today.

The day before he was three-weeks old, Maddox started the treatment with injections of the trial drug three times a week into his fat layer. After only a short period of time we noticed a difference in Maddox’s breathing and strength. He was taken off respiratory support. We were originally told to expect a hospital stay of at least six months, but as Maddox responded so well to the treatment we were able to be discharged after 3½ months. I am very fortunate to say that we have not spent another night in hospital since, aside from a small surgery to insert a peg tube when he was one.

Life now is pretty amazing. We are now a family of four and Maddox is a great big brother to his little sister Ruby. Maddox is no longer tube fed and had his feeding tube removed in the summer just before he started school. He requires a supportive chair to support his back as he has scoliosis of his spine and he is very hypermobile so uses insoles in his shoes but nothing holds his determined nature back. We still have to inject Maddox with the drug (strensiq) 3 times a week, which in itself can be traumatic but is a small price to pay for watching him run around and play with his family and friends.

Maddox is a determined energetic and typical little two year old boy. He is cheeky, naughty and completely wonderful. The journey we have come on has completely changed our outlook on life and we will be forever grateful for the research and the drug Strensiq that has allowed us to enjoy Maddox, who is not only happy and thriving but who has a great quality of life.

He is the reason behind Softbones UK. Our drive and determination to raise much needed awareness of Hypophosphatasia and to support those families affected by this rare genetic disorder.