Ivy'v Story What care and support is available for those with deletion 22q11 syndrome?


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Daisy

Sarah's story of her daughter Daisy

Daisy
Daisy was Sarah's third baby born in June 2003. Her second baby, Robert, had been sadly stillborn so Sarah was carefully monitored throughout her pregnancy with Daisy, but nothing was picked up.

Daisy was carefully checked over when she was born and a heart murmur was detected. They decided to scan her heart immediately and discovered a VSD (hole in heart). They tried to reassure Sarah that they often close themselves and sent the family home to enjoy their baby with follow up appointments.

The first six weeks were great, Daisy did very well, but then things began to deteriorate. Daisy just stopped thriving. As the hole had and increasing affect on her heart she became very ill, she could not tolerate any milk at all and as soon as she tried to take it down she just threw it back up. Just breathing was an effort. When she was asleep in her moses basket, you could see the whole bed rocking as she put so much effort into breathing.

The medics would have liked Daisy to be a little bit more robust before operating, but the family reached a point at five months when there was no choice; her lungs were beginning to be affected too, so Daisy was admitted to Yorkhill in Glasgow where she had a repair to her heart.

After the surgery, the surgeon spoke to the family, saying the operation seemed to go well but they needed to be aware that there was no thymus gland in the place it should be, so this would need investigating at a later date. The family were not sure what the implications of this were, but were just delighted to have Daisy back from surgery.

'I tried not to worry.....'

Daisy six yearsDaisy's recovery after the operation was amazing - almost immediately she tolerated milk and began to put weight on.
Sarah knew they would need to discuss the lack of thymus tissue so she did a lot of internet searching. The symptoms of heart defect and absent thymus kept coming up with the same diagnosis, Digeorge syndrome (another name for 22q).

On follow up appointments Sarah was reassured that Daisy was doing well, recovery from surgery was good and that they shouldn't worry about anything else.

Sarah says, 'I tried not to worry, but as the months passed I felt things weren't as they should be. Daisy was a very gentle sweet baby, very smiley, but she didn't make any effort to roll, or make any noises. I had a six year old boy so I knew what 'normal' development was'.

On a follow up appointment when Daisy had reached around 13 months and was still not sitting up unaided, Sarah asked for her to be tested for Digeorge Syndrome. This was done, but it was a full five months later before they received the results, stating that Daisy did in fact have the condition & that an appointment would be made to see a geneticist..

Sarah says
'At that point my world closed in on me. I searched the internet once again for information about the syndrome and just found lists of things that it caused. It was a very black picture of learning difficulties and repeated infections. Amongst all this doom and gloom, I suddenly discovered the Max Appeal website. They offered information and advice as well as stories from people a bit further along the journey that we were on. What's more lots of it was positive.......it was a real beacon of light'.

Through the Max Appeal information and a very helpful GP, the family went through the long list of things that would need investigating. They seemed to be constantly at the hospital. Eventually they found out that there was a multidisciplinary clinic for the syndrome at Great Ormond Street and they were referred there. From this appointment, they liaised with staff at Aberdeen and Daisy was managed that way.

Daisy reaches all her stages, but just at a slower rate to other children. She was 3 before she started with any words, but she used Makaton signing before talking and did so with great proficiency. Her first signs were 'chocolate biscuit please'!! She has always been mainstream with some support.

Gradually over the years, there are less and less hospital appointments, initially it seemed like one every week, now down to one every two or three months.



Daisy had further surgery in November, this time on her palate as it did not close properly when she was talking. She has recovered well and although still early days as to know how successful it was, she certainly seems to find it easier to talk, less of an effort.

Sarah says that Max Appeal has been invaluable, initially with information and guidance and then conferences. Also, one weekend, Daisy and Sarah joined eight other children with 22q and a parent on an outdoor activities weekend at Keilder, organized and paid for by Max Appeal.

Sarah says 'It was one of the most refreshing, relaxing and inspiring weekends of my life. I didn't have to pretend anything, this was us, all our struggles and all our joys over the most trivial things, just laid bare and everyone just understanding where I was coming from - such a relief to realise that we weren't completely isolated'.


22q is not really a rare disease

daisyfamilyThinking back to the experiences of Daisy's diagnosis, Sarah was delighted to learn about the Consensus Document that Max Appeal were putting together. This is a guide, written by professionals, for professionals, about how to treat children diagnosed with 22q, so not such a lottery. It is still taking some work to make sure all relevant medics receive it and read it, but the document is definitely getting out there.

The condition 22q is not really a rare disease, there are approximately 1 in 1800 live births diagnosed with it, but most people say they have never heard of it, so it's important to continue to try and educate and raise awareness.

It still remains a battle at times to obtain the help and support that Daisy requires. Sarah was very interested in attending the Rare Disease Day event at the Scottish Parliament and hearing about their strategy to ensure that no one gets left behind. Just because they have a rare disease it doesn't mean they can't reach their full potential.