Rare Beauty - Against the Odds

Barry with Play Specialist, Rebecca, at Birmingham Children's Hospital

Barry with Play Specialist, Rebecca, at Birmingham Children's Hospital

When I meet families I am always so touched by their courage and strength and Barry's mum was no different.  Her pregnancy was extremely stressful as they were aware that her son had issues from early on.  She has had to draw on the strength from within and those around her many times in their rare disease journey so far.  Amy, Barry's mum kindly shared their experiences.

Barry has Hypophosphatasia (HPP).  HPP is a rare genetic disorder characterized by the abnormal development of bones and teeth. These abnormalities occur due to defective mineralization, the process by which bones and teeth take up minerals such as calcium and phosphorus. These minerals are required for proper hardness and strength. Defective mineralization results in bones that are soft and prone to fracture and deformity.  (Source: NORD)

I did not know there was anything wrong until the 22 weeks scan.  They said there was an abnormality but they were not sure exactly what the issue was.  From this initial scan they thought that Barry’s bones and his hands and feet were affected and so they arranged for us to have another consultant scan.  At this point they really did not know what the issue was and suggested several things they thought it might be.  This started a huge round of tests including an amio and genetic testing but they all came back negative.    
Even though they did not know what condition Barry had it was suggested that we consider a termination because of the severity of his condition.  They gave me the name of one of the suggested diseases and the first thing we did was search on Google.  It was a really severe disease but that test came back negative too.

It was an incredibly difficult time because the advice was that we really should end the pregnancy even though they did not know the cause of Barry’s issues.  As a family we found it to be an extremely traumatic and difficult decision.  I found it impossible to do and so we had continued to have weekly scans.  At the 28 week scan they once again asked if I wanted to end the pregnancy and it really hit home to me how serious they thought his condition was to still be offering this option.  

By this time my bond with Barry was very strong.  It felt like every time he knew I was seeing the consultant he would kick me really hard.  I just could not terminate the pregnancy.  When he was born I had to have an emergency caesarean.  They held him up to show me but then took him away straight away to put him on a ventilator.  He was extremely poorly and our hospital in Leicester were struggling to treat him.  The consultant sent out emails to all the hospitals asking if anyone had experience of treating a condition like Barry’s.  It really was his one and only chance to survive.  

Birmingham Children’s hospital responded to say that they had experience of his condition and there was a new medication that they could try.  We were transferred to Birmingham and they started treating him.  Those first few months were really scary.  There were many times that the nurse had to press the emergency buzzer and each time I would will Barry to breathe.  I would just say over and again “Look at mummy Barry and breathe”.  I felt he would look at me and he would hold on.  The new medication has really improved his condition and the x-rays look much better now than when he was born although he is still a very poorly little boy.

When people ask me about his condition I just explain that he is special and that he was poorly but he is now getting better.  I just try to be positive.  It is very important to raise awareness of rare diseases.  If we share our experience then perhaps if another child is born with HPP they will know how to treat them.  It is also important for communities like ours as in the old days the Chinese community has not always been so understanding of rare diseases.

Emotionally it has been hard to cope with Barry’s condition. You just can’t think about it.  My mum warned me that I needed to be prepared for a difficult journey if I chose to continue with the pregnancy and that I had to be aware that I might see him suffering.  I said that I know but at least I gave him a chance.  If he doesn’t survive then perhaps it is what God wanted.  I tried to be positive because the bond I felt with him when I was pregnant was so strong.  We try to fight together, doing everything day by day and we will overcome it all and try to become stronger.  

Ceridwen Hughes1 Comment