The Weston Family Blog: October 2011

Saturday 29 October 2011

Day 2: Part 1

We were all a little on the tired side this morning after a rather late and unsettled night. Marcus took a while to calm down and woke about five times in the night. However, we were excited to hear from the doctors and after a hearty breakfast, we settled the kids into the crèche where the kids had fun and got to know each other.

The programme kicked off with a welcome and introduction from our Chair and Consultant Geneticist, Dr Bronwyn Kerr, who fed back on some of the areas of interest from the US Conference. The rest of the day was then filled with talks from Dr Emma Burkitt-Wright (Geneticist); Rebecca Howarth (Speech and Language Therapist); Dr Nilima Malaiya (Consultant Cardiologist); Kay Hood (Consultant Dentist) and Frances Binns (Therapeutic and Specialised Play Consultant).

It would be impossible and unnecessary to try to report back on everything which was said throughout the day, you should be able to access the recordings of the presentations through
the Costello Kids website. However, I will take the time to comment on the things which
interested me the most.

Firstly, we heard about a research study, from Dr Emma Burkitt-Wright, whereby the use of statins were successful in helping to un-lock the learning potential of children who suffer from disorders of the RAS-MAPK pathway, in particular NF1. Statins are a safe and well used drug which are commonly used to treat raised cholesterol and I would love it if Marcus were able to benefit from such a chance. It was interesting to learn that chemotherapy drugs could also affect the RAS-MAPK pathway - one day, a discovery may be made in the name of cancer research which may also benefit our children.

We also heard about possible heart problems and while Marcus' heart problems are mild and stable at the moment, it really helps to be aware of the possible problems which might occur in the future. It means that I know what questions I should ask at our next cardiac review.

Sleep-problems are ridiculously common in children with CFC and Costello and I will definitely be starting a sleep diary to take to our next general Paediatric review. Dr Kerr was spot on when she said that parents often don't remember exactly how many times we get up or how long we are awake for. She also explained that you need to keep a sleep diary after beginning treatment in order to accurately gauge the impact of the drugs. I'm not keen on Marcus using Alimemazine syrup again but I think melatonin may be worth another shot after hearing that many CFC and Costello patients suffer with disturbed sleep cycles, possibly due to the chiari malformation which often occurs in the brain.

Next, I was totally blown away by a really ingenious suggestion from the consultant dentist, Kay Hood. She understood how difficult it is to brush the teeth of kids who suffer with oral hyper-sensitivity. She suggested arming yourself with two tooth-brushes: one three sided tooth brush and one with a thick rubber handle. Next you need to place the thick handled brush between the teeth on one side so they can clamp down on it- meanwhile, you are free to clean the opposite side with your three sided brush. I will definitely be trying this technique when I have sourced the correct tools. We also heard about tooth mousse which sounds like it's worth a try too.

I felt really emotional after hearing Rebecca Howarth (Speech and Language therapist)speak because I felt that she was completely in tune with what we had gone through as parents of children with feeding problems. She didn't necessarily teach me anything that I hadn't already learnt on our 7 year feeding journey but I really wish I'd met her years ago; she would have reassured me that none of this was my fault and told me to take a step back and not to pressurise Marcus. I'm sure her presentation would have helped the parents of the younger CFC/Costello patients enormously. I will definitely be e-mailing her for some oral-stimulation activities and maybe she'll be able to help us with the next stage of Marcus' feeding journey.

Finally, I found the presentation on transition from Francis Binns very interesting. I was planning to skip this one as we have other, more current issues to deal with but I'm really glad I stayed. Cath Stone's words really struck a chord when she spoke about her daughter, Helaina 17, and how she felt about her transition from childhood into adulthood. I tend to live each day at time, concentrating on the present, but I learnt that we need to start planning early and preparing ourselves for Marcus' adulthood. I was especially interested to hear about Helaina's single page health profile and her 'All About Me' review. I think Marcus could benefit from something like that now, especially when meeting a new teacher, doctor, health-care worker, social worker or therapist.

All in all, we all enjoyed a fantastic day. I'm sure every parent took something valuable away from the presentations and discussions. Thank you to Colin and Cath and the Doctors for all of their hard work - we really appreciate their efforts.

Watch out for the next installment: The Halloween Disco!!

Friday 28 October 2011

Costello/CFC UK Conference, Northampton 2011

Day One - Welcome Meeting.

Last night we enjoyed an informal meeting, catching up with old friends and meeting lots of new ones. We had met several families before back in 2007 at the Orlando CFC Conference but we haven't had the opportunity to attend a conference since then. It's an extraordinary feeling, meeting people who have had similar experiences to us, almost like finding a long-lost family. Everyone is so warm and friendly and it's feels good to share experiences.

Back in 2007, I think we were still emotionally raw after Marcus' traumatic start in life. Complete with Marcus' new diagnosis, the Orlando conference held a mirror up to show us our new life and what the future probably held. Today, I can look at the older children and their parents with a huge amount of admiration and respect but without fear. In those early days, I was very afraid of what the future held for Marcus and, more selfishly, ourselves.

Last night, I also watched and was inspired by the parents of the younger children and babies with CFC and Costello and admired their strength and the obvious love and pride they have for their extraordinary families. I don't often have time to stop and think about the way others regard us but I hope people look at us in the same way.

It's been a very enjoyable evening and I'm now really looking forward to the medical discussions tomorrow.

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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!