Charlie-Anne Avery—then and now….

Charlie-Anne was born on Monday 12th February 2001, weighing a healthy 7lb 101/2 oz, from the moment I gave birth I knew she was different to my other three children. She had a mass of black hair, her facial features looked different and her thumbs looked broken.

I mentioned this to my family and medical staff, they all said that I was picking faults and to leave her alone, so I just carried on enjoying my new baby, but I always had this feeling that something was not quite right.

On February 16th our GP came to our home to give Charlie-Anne and myself a post-natal check. She discovered that Charlie-Anne had a crackle noise on her heart and that she would refer us to a paediatrician at Warwick Hospital to get it checked out. Before our appointment to see the paediatrician came through we had made numerous visits to our GP complaining with: ‘flu symptoms; refluxing from her nose; severe constipation; sweats; poor fluid intake; blue around her mouth; breathing erratically; pale complexion; shaking down one side of her body every couple of days (they looked like fits). Our GP said that most babies suffer with these problems and the shaking down her one side were dreams or she was suffering with wind, he said that it was NOT fitting.

On Monday 5th March we were seen by Dr Evans (the paediatrician), he confirmed that he could hear a heart murmur and said that he would refer us to the Children’s Hospital at Birmingham, only after he had done tests.

Between 5th March and 12th June 2001, Charlie-Anne had e.c.g’s, echo’s, and x-rays confirming a large hole in her heart and her lungs were filling with blood

Charlie-Anne was seen on Friday 15th June by Dr Miller at the Children’s Hospital, after having more x-rays, echo’s and e.c.g.’s, he admitted her for a VSD closure within the next few days. After three cancellations, Charlie-Anne had her operation on Thursday 28th June 2001. Her VSD closure went well and at last our baby was on the mend (or so we thought).

On Friday 29th June, Charlie-Anne was diagnosed with having 22q11.2 deletion, by Dr Miller, he explained that she had been born with no thymus gland and her immunities were low and that we should both be tested to see who was the carrier. He left us not fully understanding what we had been told.

On Saturday 30th June, Charlie-Anne had five fits; one after another, with the last fit the doctor had to inject her with diazepam to bring her around after 10 minutes of fitting. Charlie-Anne was given a brain scan and blood tests to see why she was fitting. It was confirmed that Charlie Anne had a dangerously low calcium level.

Charlie-Anne is now nearly eight months old, she is a lovely pleasant little girl, her weight gain is good, her food and fluid intake is fine, she is lovely and pink and we all love her so much.
Her constipation, refluxing and calcium levels and suspected leg pains are still being given medication every day. She is developing a little slower than a baby her age and she does not like crowds of people around her. We have been told that she is developing her own immune system but we are still very over-protective with her.

We are now learning to live with her problems and are more content knowing why she has them.
When I look back I feel very angry and bitter at what could have happened to my daughter, all because of the doctor’s unwillingness to listen.

I would just like to thank Max Appeal for all the support and information that you have provided, without Max Appeal we would never have been able to fully understand the full extent of DiGeorge syndrome.

Thank you for listening,

Sandie

Charlie-Anne is the apple of her mum and dad’s eye, she is also waited on hand and foot by her brothers and sister!

Her health is improving but there are still concerns about her immunity and calcium continues to be troublesome even though Charlie-Anne is now two years old.
A recent urine infection means that she will have to be scanned for kidney damage.

...but most importantly, she’s great!!

Watch this space for more updates!