The Weston Family Blog

Saturday 23 October 2021

Parent Carer Awareness Day

Whether you know me personally or have followed me online for a while, you’ll know that I post a lot about Marcus. I like to think that I’m raising awareness and perhaps helping other parents who find themselves on this path that we never would have chosen for ourselves.

The path, I stupidly thought I had avoided during pregnancy by dutifully taking my folic acid; avoiding shell fish, peanuts and blue cheese; attending the recommended scans and check-ups. I didn’t think this would happen to me. When people asked whether I wanted a baby boy or a girl, I replied flippantly: I don’t care as long as it’s healthy!

Marcus was three weeks old when I realised something was seriously wrong. A GP commented on his low-set ears which filled me with rage. I went straight home to Google ‘low-set ears’ and the world of Rasopathies opened up before me. I looked from the screen to my floppy, sickly baby with his low set ears and droopy eye-lid and I knew that he was not the ‘healthy baby’ I had dreamed of.

And so our journey for diagnosis, acceptance and adaptation to our new role began.

It’s not been easy and of course, there have been a lot of tears over the years. There remains a lot of worry and unless you’ve walked this path, you will probably struggle to understand the worry, exhaustion and the daily fights and dilemmas that parent carers face.

Please feel free to share this post or write your own and use the hashtags:

#parentcarerawarenessday #parentcarerawareness #braveparents #cfcsyndromeawareness #cfcsyndrome #cfcinternational

Friday 13 August 2021

A Letter To My 30 Year Old Self.

(Written for CFC International Newsletter. June 2021)

Dearest Sam, on your 30th birthday,

I know you are going through a really challenging time right now and that you are terrified of the future; Marcus is very young and critically ill. He’s vomiting constantly and is a full pound lighter than when he was born. No one fully understands what is going on with him yet, while every doctor adds another diagnosis to his collection. Parenting a sick baby is so lonely and very frightening and I want to give you a big hug and tell you that I understand.

I want to reassure you that things will get easier. I can’t give you a precise moment when things get better, but one day you will notice that that heavy feeling in your chest has gone, that you no longer wake up in the night to steal into your son’s room to check he’s still breathing, and that you no longer stay up late into the night obsessively Googling symptoms.

Of course, you will still worry intensely about him. However, you will learn to live with worry; it’s always there. It occupies a permanent space in your brain and in your heart like a physical ache. You don’t notice it so much anymore, although it is easily triggered by strange new symptoms, scary news stories or careless comments from thoughtless strangers.

Sam, I know the thought of going out to work, having another child or even having a family day out seems impossible at the moment, but you will figure out a way to lead a full and fulfilling life. You and Gary will learn to juggle and share Marcus’ healthcare needs and attend all the appointments and meetings. You will multitask like never before to make sure Marcus’ needs are met. You will learn to tube feed, inject and administer various medications. You will learn Makaton, feeding therapy, speech therapy and physiotherapy exercises to help Marcus progress. You will also eventually learn how to ask for help. This lesson takes you a little longer to learn!

You must also look after yourself. You cannot care for anyone when your own reserves are depleted. Go to the doctor and the dentist. Don’t ignore your own health concerns. Share the load - you don’t have to do everything yourself. Go for a walk. Meet your friends. Go on a date night. Make sure your soul is nourished. Make time for your husband because you need each other more than ever.

Yes, you will inevitably lose a friend or two along the way. You should let them go without harbouring any ill-feeling - you don’t have time for that. You can’t give friendships the attention they deserve at the moment; your children are your priority and that’s how it should be. You don’t have enough energy to nurture your own friendships at the moment, but one day you will, and you will cherish those who chose to stay.

I cannot overemphasise how much positivity Marcus is going to attract to your life. It’s hard to see that now when you feel like God is punishing you by forcing you to watch your child suffer. The pain in your heart is like nothing you have experienced before but I promise you, Marcus will teach you more than any university course or self-help book. He will show you how to accept without prejudice. He will teach you patience, unconditional love and joy. Through Marcus, you will be constantly reminded that the simple things in life are the ones that matter the most: family, friendship, quality of life and kindness.

Finally, I just want to say this to you: do not despair and stop obsessing about the future. Love your son for who he is today. Cherish those fleeting, gummy smiles which WILL become much more frequent in the future. You are doing a great job. In fact, I’m in awe of you! You are resilient and strong and one day you will look back and realise how far you both have come.

With all my love, 46 year old Sam

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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!