That child needs to see a doctor !!

One of the common issues facing children with 22q 11.2 DS is a weakened immune system. This is due to either an under developed thymus or more rarely the thymus may be absent altogether.

The thymus is located behind the sternum and in front of the heart and forms part of the immune system. In the thymus T-Cells are matured until they are required to fight infection.

T-Cells can be one of two types. Some identify the invader and send chemical messages to stimulate the immune system to produce the best weapon to kill the invader, whereas others fight infection directly. Due to an under developed thymus a child with 22q may have lower levels of T-Cells or their T-Cells may not be as effective at dealing with invaders.

In Sarah's case she had a low T-Cell count and was therefore more susceptible to infection. She frequently suffered from upper respiratory tract infections and often required treatment with antibiotics. We tried to minimise contact with people who had coughs and colds and often had to decline invitations to family gatherings or other social events if we knew someone with a cold would be there.

Nurseries and schools are a well known breeding ground for infections and we knew virtually to the day what would happen at the start of each new term.  The school term would start and three or four days later we would see the first signs of a new infection. We would then have 7-10 days of sickness and another does of antibiotics before Sarah was fit again. With luck she would stay well for another week or two before the next infection but sometime it felt like Sarah was constantly sick particularly in winter.

IF YOU ARE EATING YOU MAY WISH TO AVOID THE NEXT PARAGRAPH !!

When Sarah had an upper respiratory tract infection she would produce a very thick mucous which would lay on her chest especially when laying down.  She would cough and cough for ages to try and shift the mucous and would sound like a 60 a day smoker. Eventually she would be sick and would produce what seemed like yards of sticky phlegm. Frequently the best way to free the mucous was to give her a drink of milk, wait a few minutes and stand well back when the next coughing fit started !!

I was regularly told off by Colleen for being too slow with the bowl, muslin or tissues ! It wasn't so bad when we were prepared and knew what was coming but sometimes we would be caught by surprise when Sarah had a coughing fit.

One of the worst cases was when we were in our local High St. outside the now defunct Woolworths. Sarah had a very prolonged coughing fit and obviously the inevitable happened.

On old lady was watching what was going on, gave us a disapproving look and said "That child needs to see a Doctor"

Now being very British we said nothing and carried on clearing up the mess. Looking back the obviously response should have been

"Well, she has seen our General Practitioner and the paediatrician at the local hospital, she has also seen a consultant cardiologist, cardiothoracic surgeon, anaesthetist, geneticist, immunologist and a urologist. Oh and you can also include nurses, radiologists and physiotherapists. So just what sort of doctor do you think she needs to see ???"

The thymus becomes less important as a person gets older and fortunately Sarah's immune system has improved significantly over the past few years. The respiratory tract infections are not as frequent and she is better at dealing with the mucous. In the past two winters I think we can say that she has had no more coughs and colds than other children her age. We still have appointments with Dr. Menson at Evelina Children's Hospital and on occasion Sarah has needed booster vaccinations (such as the pneumococcal vaccine) to ensure that cover remains at the correct levels. Finally we never forget the annual flu jab and aways make sure we all have this as soon as it becomes available.