Monthly Archives: February 2011

Profiling SMARD: Jaime’s Story

Jaime was born full term on the 10th October 2009, we had a difficult last few months of pregnancy as she was small. I had steroid injections and regular monitoring. She was born only 3lb 15oz which shocked everyone and spent 5 days in the Neonatal Unit before being discharged.

She was a strong and feisty little girl from Day 1, she could lift her head from lying and cry for England! When she was a month old she stopped feeding as well and after a couple days our GP advised us to take us into hospital in the morning. The following morning we took her in and she had sats on 70% and was rushed straight to Resus. She was diagnosed with a chest infection and was put on CPAP, she responded well and a week later was on nasal prongs only needing a small amount of oxygen. Whilst feeding her she suddenly went into respiratory arrest, the Doctors resuscitated her and took her back to HDU and CPAP. She didn’t respond very well and deteriorated until two nights later we were woken to say she had been bagged for 3 hours, was in 100% oxygen and things weren’t looking good. Thankfully she’s a fighter and she stabilised enough for them to transfer her to Leicester ICU and was intubated. She continued to improve in ICU but despite several attempts of extubation (many of them because she’s a madam and pulled the tube out) she wouldn’t tolerate longer than a couple of hours.

Jaime was quite a puzzle to the Doctors and therapists as she was behaving and moving as any normal baby. In fact she was proving quite a hit with the ICU staff as they weren’t used to being able to play and interact with their patients, and when she looked like she was going to start smiling it just added more play time into the day.

The doctors ordered a string of tests and consultants to review her and two weeks later we were no closer to understanding it until an EEG showed nerve weakness in her hands and feet. We were told the most common diagnosis was SMA Type 1 or Charcot Marie Tooth, although they said she wasn’t presenting as they’d expect for these conditions. Our research into the conditions put significant doubts in our minds but never the less we had a nerve wracking wait until the results came back. One of our Doctors was working with a child in Nottingham with a strange variant of SMA but was about one (we think this could’ve been Maddison!) and SMARD as diagnosis was mentioned from the beginning.

After one month in ICU we made the difficult decision to have Jaime trached, in hindsight it was absolutely the correct decision as despite her strength and fight Jaime was starting to look tired and drawn from being on the Ventilator for so long. Our difficult decision was lightened as the day after her trachy was done she smiled for the first time.

A few days after the operation she was transferred to the High Dependency Unit, which was a very nervous time indeed. We were very worried that she’d gone from having a nurse at the end of her bed 24/7 to being in a side room. We both stayed with her, taking it in turns to watch her sleep, and on the first night she stopped triggering the Nippy (she was on Pressure Support) and her sats plummeted in a few seconds. Having been through it once before we new to pull the emergency buzzer and we were amazed at how quickly all the staff on Ward 12 piled in, and how quickly Jaime turned pink again! Jaime was moved to Pressure Control and the Doctors on the ward decided the best thing was to get Jaime bigger, she was now 10 weeks old and barely 5lbs and they knew that the best chance Jaime had was to get some weight so she had reserves. Pushing her respiratory function was the bottom of their list, especially after we had the all clear for SMA Type 1 and CMT. With the future unclear but looking brighter we enjoyed our first Christmas with Jaime and she got thoroughly spoilt!

In total we stayed on Ward 12 for a year, and they were very successful at putting weight on Jaime and at 3 months I could finally start buying her newborn clothing rather than Prem! Unfortunately with weight and height gain came muscle weakness, initially in her legs which she couldn’t lift and then by 5 months she stopped lifting her arms and at 6 months after a severe chest infection she lost the ability to swallow and move from the neck down. These were very difficult times and coincided with getting the confirmation of SMARD. We did what every parent does and ‘googled’ SMARD and came across ‘Daily Dakin’ which was amazing. We saw this amazing little boy who had an amazing quality of life and we were determined to give the same thing to Jaime. We got in contact with Dakin’s mum who put us in touch with Madison’s parents who were only an hour away from us in the UK. We joined SMASpace and after so many months in isolation with Jaime’s condition we loved being able hear about other peoples stories and experiences. They offered us real hope that Jaime could start to move again once she stopped growing.

She had a Gastrostomy at 7 months and from the age of 10 months she started to regain some movement, initially her arms moved in the bath. When she was 14 months old we were finally discharged from hospital, which meant leaving all her friends from ward 12 and trusting a new set of staff in the community. Coventry has never looked after a child with Jaime’s dependencies and so was a great challenge to them, and despite a few initial hiccups 2 months later it’s all going brilliantly, and we enjoyed our first Christmas at home with Jaime (and once again she got spoilt!)

Being at home was a huge step change, for so long we had had a daily commute down the motorway to visit Jaime for just a couple of hours each day her Grandparents spending the day with her. We have had to alter work hours and the way we live at home to make everything work, which is a huge strain but we’re getting used to it and we just need one smile from Jaime to know that it’s all worth it. Once we were at home Jaime really started to flourish, she started to ‘talk’ over the vent although we’re yet to get past ‘ra-ra’ and ‘ba-ba’ and she now cries for attention again. After only a few weeks at home her physical strength is returning, she’s started to swallow, cough, burp and projectile vomit again – so we’re back trying to get her to eat – although it’s just a game to her at the moment! Her arms and shoulders are starting to get stronger and she can roll cars on her table and she can turn her head from side to side.

Jaime’s personality and strength is an inspiration to us all, and everyone who has been involved in her care has been amazing. The generosity people have shown towards us is un-repayable and we’re permanently indebted to everyone who saved our little girl and continues to make her one of the happiest kids I’ve ever met. In April all our lives change again when our family grows and Jaime gets a little sister!

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