The Weston Family Blog: 2014

Wednesday 1 January 2014

Looking back at 2013

It's natural to look back and reflect at the end of a year, and what a year it has been for the Westons!

We have been to America; two of us have changed schools; the kids have enjoyed all kinds of success both in and out of school and Marcus has been extremely blessed to receive some generous donations for equipment which has made such a difference to his quality of life.

One of the most exciting events of the year was our three week visit to Orlando, Florida. We spent 2 weeks enjoying the theme park thrills although our visit, primarily, was to participate in the CFC Conference at the Sea World Renaissance Hotel and the conference was everything we hoped for and more. CFC International is the ONLY support group in the world specifically for Cardio-Facio-Cutaneous Syndrome and the organisation, lead by Brenda Conger, is a truly dynamic and forward thinking group which is focussed on providing support to families as well as pioneering research projects to benefit our loved ones with CFC Syndrome. The conference was well attended by families from across the globe and it was an honour for me to be asked by Brenda to be the UK representative.

I cannot explain to you how amazing it was to meet the families, especially the mothers, of CFC children who I have chatted to on-line and on Facebook on a regular basis for the last few years. I already felt like I knew these fantastic people and their children inside out; however, to be able to meet in person was a dream come true. It was also a great opportunity for the girls to meet other siblings as well as children with CFC. It was heart-warming to see all the little, curly-haired people in the hotel, some in wheel-chairs, some in buggies and some ambling around with their distinctive gaits; each mealtime felt like a vast family gathering and most tables had at least one child/person who wasn't eating or who was being fed pureed food or being tube fed. Many of our children, with their sensory differences and challenging behaviour, were having meltdowns and tantrums or shouting their objections but the wonderful thing was that we weren't worrying about the disapproving glances or the stares. We all understood one another's challenges and we were able to swap advice, offer tips or support; a common practice amongst most parents but when you are parenting a child whose needs are as unique and as rare as ours, it's difficult for most other people to relate. Over dinner, we laughed and joked about the places our kids had vomited or the times people had well-meaning but preposterous comments about how we might get our youngsters to eat. I relished the chance to have a cuddle with the very young babies and children with CFC and I definitely enjoyed the company and appreciated spending time with the young adults with CFC too. I was inspired by their loving natures and their sense of fun.

I was mostly inspired by the witty, intelligent and proactive women that I had the privilege to meet. Women who have massive daily parenting challenges and careers yet still find it in their heart to give: to give their time, their energy, their love, their money, their knowledge, their expertise, their experience and their friendship. Without these individuals, undoubtedly, CFC International would not be the organisation it is today. Brenda's driving force and leadership is unquestionably an inspiration; however, she is very modest and I noticed that she immediately credited the team for their hard work whenever anyone attempted to thank her for her efforts. Melinda Wolford also absolutely blew me away with her optimistic and proactive attitude. As a highly qualified Professor in Psychology and mum to Stone who has CFC Syndrome, she gave a brilliant workshop providing practical ways to deal with challenging behaviour. Not only that, acknowledging a need for better integrated services in their area for children with special needs, Melinda and her husband actually set up their own thereputic learning centre in Ohio. How awesome is that! To be fair, I could write a book about the amazing people I met, each one of them made me want to work harder and to think about how I might play a part in helping Marcus, all children with CFC and even the children with special needs who I teach on a daily basis reach their full potential.

The conference was definitely a worthwhile experience and we came away with plenty of ideas and information from the workshops and presentations as well as hope for the future. For me, spending time with other families and parents who are dealing with the similar challenges and decisions was the most valuable aspect of the conference.

This year hasn't all been plain sailing and we faced a huge battle when Marcus' private taxi transport to his special school was withdrawn after an assessment which took place at school without our knowledge; the outcome was that Marcus should travel to school on a 16 seater bus without a carer, with children with special needs ranging from 3 - 16 years of age. We wrote letters, made phone calls and it was difficult to see whether anyone was going to see our point of view - Marcus is vulnerable as a non-verbal passenger on a 20 minute bus journey, twice a day, three times a week with 15 other children who all have additional needs of their own. We just didn't feel this was right or safe. Anyway, every cloud has a silver lining and this shameless act of local government cost-cutting forced us to reassess Marcus' dual school placement. After more discussions, research and a rather tense and difficult annual review meeting, we decided that Marcus should attend the same mainstream school as his older sister, full-time. At the time, this felt like a huge leap of faith but in actual fact, it makes complete sense for Marcus and he is thriving. Our main aim this year was for Marcus' speech to develop and we thought he had a better chance if he were to spend time in a language rich environment surrounded by positive role-models. I'm so glad we followed our gut instincts and took the chance because his speech is exploding at the moment. He is stringing words and sentences together and his sounds are becoming increasingly clearer. Not only that but he is also surprising us continually with his literacy skills. He knows all the letters of the alphabet (he can't yet say them all) but using his iPad he can finally express himself by typing simple words or using Proloquo2go to express more complex ideas. St Mary's has proved to be the perfect setting for Marcus with it's inclusive, faith-driven ethos and caring staff who have brought the best out in Marcus and are helping him to achieve his potential. Marcus' speech and language seems to be blossoming as are his eating skills. He has become a very adventurous eater who loves all kinds of foreign and spicy cuisines as well as traditional English food like Yorkshire pudding, and fish and chips!

Marcus has been extremely blessed to receive help from some very generous and caring members of our community. The Freemasons, at Lennox Lodge, gave us a grant towards purchasing a fantastic new wheelchair for Marcus. Its lightweight frame and modern design mean that it's very easy for Marcus to propel himself and provides a smooth and comfortable ride when we are pushing him around town or in the countryside. The flashing lights and graffiti style spoke-covers mean that it is very cool and as well as safe for his little fingers. Our friends at Lennox Lodge also secured some funding for an iPad and communication software (Proloquo2go)for Marcus use at home and school. At the conference, we learnt about many different Apps and how the iPad can be used as a communication aid as well as an educational tool and it's been great to put all those things into practise and to see how he is benefitting.

All in all, it has been a fantastic year for the Weston family. I am settled into my new job at Richmond School, Joely has competed very successfully in several gymnastics competitions and Romilly is growing up fast and continues to delight and entertain us all with her mischievous yet charming antics. As always, Gary is my rock and without him, none of the above would be possible.

If 2014 is as good as 2013 then we'll have no cause to complain! Happy New Year everyone and thanks to you all for your continuing support.

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Marcus' Story

Isn’t it funny, the most complicated of puzzles always seems so obvious…once you’ve discovered the solution? This was definitely the case with Marcus.
On the 17th October 2004, my friends and their children had come round to our house to play. I had finished work just three days before and was already feeling quite strong twinges but I still had almost four weeks to go before the baby was due. I was huge! That afternoon, my friends joked that I seemed preoccupied; and I was … I was wondering whether the baby was coming! My bump was so big, there was no way it would stay in there for another 4 weeks; there wasn’t any room left!

Three days later, I was in bed cuddling my husband and my newborn baby boy. We were ecstatic. He was huge: 7lb 15oz and three weeks early. The midwife commented that he appeared more mature and we noticed his face was pretty puffy and bruised. He also looked as though he hadn’t quite grown into his skin. We put this down to the fact he was early and was stuck in my pelvis for three days. That first night, I noticed he didn’t feed well, but thought little of it. The next day, Marcus was checked over by the Paediatrician who noted his droopy eyelid before allowing us to take our new bundle home.

After just three days at home, we had to take Marcus back to the hospital. He had quite a nasty eye infection and his droopy eyelid was really swollen. We were pretty concerned about his eyes; they looked really sore, very swollen and a bit wonky. Over the following two weeks, his eyes improved but his feeding was becoming problematic. I was breast feeding but knew he was not feeding for long enough or often enough. He was also vomiting pretty regularly. However, I wasn’t overly concerned until he was 2 weeks old and had still not regained his birth-weight.

At three weeks old, Marcus contracted RSV virus and refused to feed altogether and lost another 8oz - he was now four weeks old and only 6lb 15 oz, a whole pound lighter than when he was born and he looked terrible. We were desperately worried about Marcus, he’d been prescribed reflux medicine to control the vomiting. It didn’t make any difference and I began bottle feeding so I could be sure about how much milk he was receiving. Life was becoming increasingly difficult by this stage. We had to take towels with us if we went out because he was vomiting so much. I was also spending almost all day feeding Marcus, drip by drip. He would arch his back and scream every time the milk touched his tongue. It was as if he knew it would cause him pain later down the line. He started to scream when you brought the bottle near him. Despite spending every waking minute trying to feed him, he still wasn’t taking enough to grow. Marcus also slept through at night, I’d have set the alarm clock to wake me up so I could force feed Marcus - it was such a dreadful time. I’d sit in bed sobbing, why won’t my baby eat?

At this stage, Marcus was admitted to hospital where they discovered his heart problems - which are quite mild fortunately. The doctors also changed his milk, added some more reflux drugs and started naso-gastric feeding. We went home for another couple of weeks but Marcus still didn’t gain weight. The vomiting worsened as he couldn’t cope with the increased volumes we were forcing on him with the NG feeds. Going out was impossible with the vomiting and every time someone asked about his NG tube, I cried. I didn’t know why he had it, why he wasn’t growing or what was wrong with my baby.

Around this time, our GP commented that Marcus’ ears were rather low-set. I was furious, what did his ears have to do with anything? I was more concerned about his feeding, that’s why I went to see him. He said, “You can’t make a baby eat if they’re not hungry.” Great! Really helpful….NOT! I got straight on-line and Googled “Low-set ears.” I was gob-smacked by what came up on screen. Noonan Syndrome. This was the first time I’d really considered that there may be something serious and long-term wrong with Marcus. I read the symptoms: low set ears, wide-spaced eyes, loose skin, pigeon chest, heart-defects, and developmental delay. Marcus was lying across my knee. I looked at him and then at the screen…and back to him. I knew in my stomach, this was it, The GP was right.

Eventually, Marcus was readmitted and remained in hospital for another 7 weeks while the doctors tried bolus feeds, continuous feeds, experimented with milk and reflux drugs. He had all sorts of scans and x-rays to try and determine his problems but to no avail. I asked the doctors there about Noonan Syndrome - they didn’t think so, his feeding problems were too severe, they didn’t fit.
At 15 weeks old, we said goodbye to the brilliant staff at Northallerton and Marcus was admitted to the Royal Victoria Infirmary in Newcastle, 50 miles away from home. He had just regained his birth weight and the doctors there decided to perform biopsies of his gut and insert a central line so they could get some nutrition into him. His gut biopsies were normal, as was the barium study, MRI scan, chromosome studies and abdominal scans. Marcus was fed via parenteral nutrition and NG tube for the following few weeks.

Meanwhile, Joely was almost 2 and her life had been turned upside down with Marcus’ arrival. We were all missing each other but there was no easy way to manage the situation. When Marcus was transferred to Newcastle, family life became easier in some ways as we were all able to stay in Crawford House, accommodation provided for the families of poorly children by The Sick Children’s Trust. We ended up living there for 3 months.

At first, Marcus seemed to make little progress and the doctors were no nearer to determining why he couldn’t feed. We were visited by the genetics team who felt there might be a genetic reason for his problems. Again, I asked about Noonan syndrome, and they said they didn’t think his problems fitted that pattern.
After 4 weeks at the RVI, Dr Bunn struck gold. She thought it might be worth feeding Marcus into the top of the bowel, into his jejunum. It worked, Marcus gained weight, the vomiting improved and he slowly came off the parenteral nutrition. We decided it would be best for Marcus if he had a surgical jejunostomy inserted so we could take him home and feed him that way. We were so excited, we had a solution.

Our excitement was very short lived. At 5 months old, he went to have the surgery to insert the feeding tube. It all appeared to go well but later that evening; it became clear that Marcus was very unwell. His heart was racing, blood pressure was high and his breathing was much more rapid than usual. He was writhing in pain. The surgeon sat with us all night, then Marcus’ nappy filled with blood; rich, dark and red. He had a couple of blood transfusions before being taken back to theatre in the morning.

Then we waited…and waited… After about four hours, the surgeon came and explained that Marcus had malrotation and because he’d inserted the J-tube using key hole methods, the gut had knotted in two places and caused a volvulus. He felt the surgery had gone well; he’d re-situated the j-tube on the other side of the abdomen and performed a Ladds procedure to correct the Malrotation. He said we’d be able to see him soon…

4 hours later, they still wouldn’t let us see him and no-one could tell us anything. Gary and I were going out of our minds. Eventually, it all got too much and I threatened to go and find Marcus myself. The Sister took us to PICU and sat with us in an office, the surgeon, who told us the surgery had gone well, entered. I knew it was bad. I was terrified. Why had he brought us into his office? Had Marcus died? I waited for him to speak; I didn’t trust my own voice. His words are a blur to me now but he explained that Marcus had taken a turn for the worse while in recovery. He had sepsis and he was on a ventilator. “Can we see him?” I heard myself ask. I held Gary’s hand very tightly as he led me into a cubicle. There was a baby on the bed, intubated, sedated, swollen and very bruised. He didn’t look at all like he did this morning. I had to look closely at his face just to make sure they hadn’t made a mistake. “Is he going to die?” I asked suddenly.

The doctor replied in a soft Scottish accent, “I suppose the honest answer is yes, he could … but I don’t think he will.” That was enough for me; I focused on the surgeon’s faith or belief in Marcus. I didn’t think he would die either.

My Dad drove up to Newcastle that night and the three of us sat in vigil around Marcus’ bed all night. We stared at the monitors; praying, willing the numbers to reverse - willing his temperature and heart rate down. Marcus little body lay still on the bed for most of the evening, only moving when the sedation wore off. We sat watching the rise and fall of his little chest, inflated with every compression of the concertina within the ventilator chamber. His tiny body was covered in wires, tubes, canulas, blood and adhesive plaster. By morning, the worst was over, his temperature was down, his heart rate had stabilised. Our prayers had been answered.

After a week, Marcus made his way back to ward 7 and we were able to start using the jejunostomy to feed him. We did have a few teething problems but by the time Marcus was six months old, we were all back at home in Richmond.
This marked a new phase in our lives. It was very frightening at first, having a small baby fed permanently, twenty hours a day via a pump. He was attached to a drip stand at home and we had a little ruck-sack to put the pump in when we went out. Gradually we got used to it and all the people coming to our house to attend to Marcus’ needs - we now fondly refer to them all as ‘his entourage’. They’ve become friends, the faces change sometimes but their presence is ever felt. They come in the shape of the community nurse, health visitor, dietician, physiotherapist, speech therapist …

Marcus still didn’t grow too well, and the next year was a struggle. We tried many different types of milks and regimes. Eventually, we found that Paediasure worked and his weight improved dramatically but his vomiting gradually got worse again. Sometimes he’d vomit green bile up to 10 times a day, writhing and screaming in agony. We went back and forth to see the doctors but they couldn’t find a reason why he was so sick.

Meanwhile, we were trying desperately to get him to feed orally. I managed to get him to drink water and eventually, after one particularly sicky weekend, I stopped his feeds and waited. I offered him water which he took readily and then I tried offering some milk - he took it!

He has been taking his milk orally for a year now. At first he lost a lot of weight but he seems to have found his own line at the bottom of the centile chart now. I believe Marcus cannot cope with huge volumes of feed, he like little and often. He vomits very rarely now, only when he’s drank too much or is poorly. He doesn’t eat solids yet but we’re working very hard on that at the moment.
Marcus was diagnosed with CFC last November, just after his 2nd birthday. It came as a shock at first but within a few days we realised how lucky we were to know for definite, what was wrong. Knowing is far, far better than not knowing. And all the pieces of the puzzle fit together and seem so obvious now. Marcus has always itched and sweated. He has sparse curly hair, low muscle tone, ptosis, sensory processing difficulties, hearing loss, short sighted, feeding difficulties, heart defects ... The list goes on an on ...

Today, Marcus is doing really well. He will be 11 in October and his speech is improving, he can read, he's eating solid food, and he's brilliant with technology. He’s a complete joy to us and we appreciate each and every milestone all the more because we know how much effort and determination it’s taken him to reach it.

Thanks to the doctors who figured out the puzzle, we now know why and how Marcus struggled so much at the beginning and why he has so many complex problems, and it all seems so obvious now!

Wednesday 1 January 2014

Sponsored walk for BHF.

Looking back at 2013

Marcus' Story