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


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GraceDuring my pregnancy I was completely overwhelmed with mixed feelings about our baby, and her heart condition. We decided not to have an amnio because I have had two miscarriages. So basically we were just left with our thoughts until the birth. We did have a chat with Grace's consultant about the plan of action on Grace's arrival - it all depended on how she appeared at birth.

Grace came in to the world on Sunday 6th August 2000 at 11.32pm. This was her due date, so I was very pleased. It was a straightforward birth, with nine spectators to welcome her into the world. She was born really pink and cried almost straight away. After the paed.s had given her a quick once over I was allowed a cuddle and Dad, Francis, gave her a little kiss. One thing we did notice was that she was born with a frown. She looked most put out! Then off she went to intensive care.

Once you have had the experience of a healthy baby, being able to cuddle, kiss and care for them all the time, it's awful seeing them rigged up to different machines, also always having lots of people around.

Twelve hours after her birth, Grace wasn't on any medication and her saturations were around 90%, 93% being her highest. At this stage it was suggested that her face wasn't symmetrical, she looked perfect to us, this was put down to the birth and the muscle would go back to normal maybe after a few days.

Her heart scan was performed the next day. Tetrology of fallots or maybe pulmonary atresia. We really didn't have any idea what they were talking about. At no time was any literature offered or diagrams to help explain matters.

It was decided that Grace would go to Great Ormond Street on Wednesday for an echocardiogram. Francis went to London with Grace. We think at this stage Grace was making up her mind that she didn't like any of the medical procedures.

On her return to Cambridge we were informed; yes, she did have pulmonary atresia. However she did have collateral vessels which were supplying her lungs with blood, we were told these had saved her bacon and at the moment were working quite well. Grace would need lots of surgery, without this she would die.

I felt I had convinced myself near the end of the pregnancy that they had mis-diagnosed, this wasn't happening to us. Because Grace looked so well and had started to breastfeed, this confused me even more. So to hear that she had a serious heart defect was a shock to me. Grace had to have a cardiac catheter in 3 - 6 weeks, we dreaded this.

On 13th August, Grace was discharged from hospital. Before leaving we were told she could go into heart failure at any time and these were the symptoms to look out for. Also her chromosome results were back - and yes, she did have DiGeorge Syndrome! Francis and myself couldn't believe it. It was a total shock. We had already had the worry of her heart, this added to our worries. It made us more determined to love her dearly.
GraceWe were so pleased to get her home. Casey, her brother, demanded she walk as soon as he saw her. She continued to breast feed well and her weight gain was steady.

Grace, however, never slept really well and fed every two hours during the night, right up until her death.

At home, to begin with, she used to have real screaming fits but we soon got used to these and were able to soothe her. She was always cuddled and kissed. She refused to sleep by herself and hated sleeping on her back. If she was placed on her back soon after a feed she would vomit out of her nose.. she just fired it out - her brother was horrified by this trick of hers. 99% of the time she was sick out of her nose.

We do have comfort in the fact that Grace never slept by herself, she would only sleep lying on her front or side, cuddled into Mum or Dad. She never slept for long periods of time.

We decided that we would try to treat Grace no different from her brother. She attended all the local groups; mother & toddler, messy play etc. with Casey.

Grace had the most beautiful colour hair, coppery red, everyone who met her fell in love with her.

She had her cardiac catheter on 11th September 2000. Nothing prepared us for how traumatic this would be. Grace was inconsolable after the procedure. You could tell she was relieved to be back with me and Fran when she was brought up to the ward.
GraceCasey came to London with us. He really enjoyed it, most of all playing in the hospital playroom. However, it did affect him and we think he probably sensed how Grace felt and it must have been traumatic for him to see Grace with drips etc.

We felt we had to include him because this was how our lives were going to be from now onwards.

Her catheter findings were briefly as follows: she had 3 large aortopulmonry collateral arteries supplying the right lung. There were 2 small aortopulmonary collateral vessels supplying the left lung. The majority of pulmonary blood flow was going to the right lung. I only know this much information about her MAPCA's because I requested her notes from Addenbrooks after her death. After the procedure the consultant spent about 5 minutes with us. He basically said Grace would require life long surgery. How successful that would be was unknown. And that was about it. Grace was discharged the following day.

Around the end of September we had a long weekend away, in Hemsby. Grace's personality seemed to change whilst we were away. Whether it was because we were getting to know her or she knew she was away from it all and could relax with the family.
GraceShe even spent an afternoon on the beach. We will always treasure these memories and how lucky in comparison to other families we were.

Grace was cared for mainly by the community paed. nurses who would pop in once a fortnight and was visiting her consultant once a month.

October was quite an uneventful month in terms of her care. Grace was part of ordinary everyday family life. She also received two lots of her immunisations this month including the Meningitis C vaccine. Grace seemed to cope well with this, better than her brother. Her consultant advised us to let her be vaccinated. On some occasions Grace looked slightly more blue around the mouth than usual. But because we were with there every day we didn't seem to notice the gradual changes.

Grace didn't really look different to any other baby of the same age; the only noticeable thing was her colouring. She was quite pale. G.O.S. had given us Sytron therapy for this, but it made her vomit every time she was given it. This was eventually stopped, seeing as she couldn't keep it down.

At the beginning of November she was seen in clinic. There was concern about the blueness around her mouth. A chest x-ray revealed that too much blood was going to her lungs. She was prescribed frusemide and spironolactone. At this meeting the consultant suggests that Grace will outgrow her heart by the New Year.
GraceGrace continues to plod along nicely. She does however lose some weight. This is put down to the medication and nobody seems concerned about this.

On the 23rd November 2000 we receive a letter from Great Ormond Street stataing Graces surgery has been put back to the end of March 2001. They feel this is a safe and satisfactory decision. My husband was very concerned about their decision and spoke to her consultant. He reassured us he could "crow-bar his patients in to G.O.S. if needs be."

GraceGrace became ill on the 28th of November and died on the 30th November.

Right up until the afternoon of the 28th of November Grace was doing extremely well. She was smiling and cooing. She used to love raspberries blown on her neck and had started to hold a rattle and play with her baby gym. She was always very alert.

As a family we miss Grace. We all loved her so much. We do feel some comfort knowing she won't have to suffer any more invasive procedures. Where she is, no one can hurt her.

Aimee, Francis and Casey Durning.