Follow the ups (and downs) of our beautiful SWAN (S.W.A.N. UK. Syndrome Without A Name)
Dylan. Our son is undiagnosed with too many individual health issues not to be related to a genetic condition. But with no diagnosis we have no prognosis leaving the world to be his oyster and anything is possible. At almost 5 years of age on more daily drugs than an elderly person, potent injections, and having more tests, investigations and general anaesthetics to count, day by day Dylan is defying the many many doctors involved in his care.
Dylan’s problems started whilst I was pregnant with him and at 20 weeks they noticed something was different about Dylan, his organs were reversed – situs invertus and dextrocardia. Apparently this is a fairly common thing normally found in an older person whose been walking around with it all their lives unaware until needing a scan for some medical reason, we got a second opinion at the Harley Street Fetal Medical Centre who assured us Dylan would be fine. that didn’t stop me breaking down and worrying, no sleep, panic attacks. Omg what was happening to me???
At 27 weeks I had a growth scan At PAH (Princess Alexandra Hospital) Harlow, my consultant was off so I saw a registrar who told me Dylan was getting smaller and had genetic condition. OMG my world collapsed. Again.
They told me they wanted to deliver him tomorrow, tomorrow no they couldn’t it was too early. I was not ready.
But after consideration decided to leave him cooking in the oven – me! Phew that made me feel a little better. But genetic condition what did that mean? They wouldn’t know exactly until he was born. So now I worry and wait, more panic attacks. I’m ignorant to this, genetic conditions what were they?? Down syndrome? That’s all I’d heard of, and that from the 12 week screening tests and that was normal. Now what………
Little did I know all my pregnancy ailments were mirroring those of my unborn baby, breathing attacks – Dylan’s apnoea attacks – stopping breathing, constant heartburn, more painful than I could ever describe I was glugging from the bottle, a large gaviscon a day, maybe two! – Dylan’s sever Gastro reflux. Unable to sleep – Dylan’s never sleeps at night properly, panic attacks in night – well that’s just Dylan to a ‘T’ But we held on until at 35 and a half weeks I was back in hospital poorly again, so they decided that next Wednesday, The 20th August 2010 they would deliver my bundle of joy by c-section, this was no shock as I was having a planned c-section anyway as I did with my daughter.
At 9.36am my absolutely perfect beautiful baby boy was born into this world. He was so tiny I was scared I would break him. 2.5kg tiny but perfect and no need for special care. Because of the checks we were in recovery to 7pm, that and they didn’t have a bed for us. But all was good, I noticed Dylan had two large skin tags attached to his left ear which the midwives said they would remove with a piece of cotton. Little did I know this was the start of a puzzle, our puzzle. (as at a much later date was described by geneticist as a dismorphic feature)
A heart scan, echo needed to be done but like any maternity unit everyone was too busy and we’d get sent an outpatient appointment for that and for his skin tags.
Dylan didn’t murmur, slept just like a the perfect little baby boy he was……… I kept looking at him for this genetic syndrome, I turned my head to the left and then the right and back again but he just looked beautifully perfect. To me and I’m sure everybody else.
On day 10 we got him circumcised, I should have realised then something was wrong. He bleed through 2 maybe 3 layered nappies. We called the doctor back that evening. But although extremely uncomfortable he did settle down slightly. But from this day, the reflux started, he cried, and he cried and he cried. Didn’t sleep at all. I remember laying him in his bugaboo and wheeling round the lounge till all hours whilst my husband worked late
He had silent reflux all the signs were there, from the arching back, stretching body and screaming in pain, no projectile vomit, not yet anyway. The gp misdiagnosed it as colic. I knew it wasnt colic nut didn’t know what it was All this time on cow and gate formula which was causing his gut allergies unknown to us. Although hardly feeding at all whatever went in went straight through him causing more pain and discomfort.
At 8 weeks to the day something happened. What was it? a fit? a seizure???? Not sure but it happened after every time I gave him a bottle. To be fair I was feeding him on demand so I pretty much constantly had a bottle in my hand for him. Was hard to tell if it was milk related. I was looking after a friends child and my husband at work. So I waited and watched. By 4pm couldn’t wait ant longer and rushed him to PAH A&E. They asked me to describe what was happening. “His eyes rolled and shook. His limbs spazammed, his eyes were open but he wasn’t there” A vacant episode apparently caused by reflux. After a week Long stay in Harlow, numerous scans and tests mainly brain and heart. All fine. Followed but a blue flashing light trip to Addenbrooks Hospital in Cambridge. 20 mins was all it took from Harlow. It flew but was also a blur i remember being thrown around the back as we came off the M11 and raced round roundabouts. It Was like being in a film, a horror film!! As I had about 15 minutes notice to pack up Dylan’s room in PAH as we were being transferred to another hospital Now! where neurologist were waiting for us. More brain scans. EEG this time but again no answer. They thought was epilepsy, once again my heart collapsed. Would he ever be able to drive, work??? The list in my head went on. But nothing conclusive. Nope not epilepsy.
Let me tell you if it was, three and a half years on when all these seizures fits vacant episodes and apnoea attacks, which are all still happening, at least he would be medicated and not left in the unknown as to when or why these awful things happen to my boy.
We were sent home with no answers. they put it down to reflux and was given Donperridon and ranitidine. No follow up appointment and no medication review.
In the November Dylan suffered continuous ear infections and broncilitis medicated by antibiotics. He still cried all day every day, and night and The reflux became projectile. Anything and everything was covered. The speed and length is could travel was shocking how could such a little man make so much mess blurghh and also be in so much pain.
I’ve always been on the understanding when you feel sick it’s better out than in but not for gastric reflux. It always felt bad in and out.
Fast forward 4 months and after impedance studies at GOSH he had 170 plus reflux episodes a minute much worse than an adult could even suffer. My poor innocent baby.
But one of the worst days on my entire life was January 17th 2011. Dylan was 4 months old. Still a tiny little dot not putting on any weight. Whilst visiting my dad at his office. I had Dylan in my arms, saying goodbye. When I looked at him. He felt still he was blue. His skin was translucent. He wasn’t breathing. OMG I screamed. My dad, being the protective daddy he is grabbed Dylan off me. I screamed. He’s my baby. And grabbed him back.
I remember thinking of how much I sounded like Kat and Zoe Slater from Eastenders at this moment. I can still, to this day hear my voice echoing “he’s my baby.” Like they were screaming “you’re not my mum, yes I am!!” Historic moment in British television but also a historic moment in our family. What we didn’t know was that all that screaming and tugging him around saved him life. We unknowingly resuscitated him.
The ambulance was there in a second and we arrived at Whipps Cross Hospital within Minutes. I didn’t call my husband or my mum my dad did, but the look on their faces when they arrived at A&E will haunt me forever. Dylan was kept in for observation but was fine. Although that was only the beginning of these episodes which are still happening to date requiring us taking oxygen wherever we go and still no idea as to why these are happening. Perhaps reflux but we put Dylan through that awfully large and nasty operation to prevent these happening back in May 2012. Which although extremely successful in transferring him from a leaking tap to a child that now is only able to be sick when he sees me coming at him with his injections. Didn’t stop him from stopping breathing.
On January 20th not 3 days after this horrific experience Dylan had his skins tags non-surgically removed at Addenbrooks, they were not done to perfection and I was cross. I remember thinking I will follow this up in a couple of weeks once they have fully healed. I never ever managed to get round to this as there was so many more important health issues going on in Dylan’s life that we were yet to find out about.
This now leads us to him leg. Which is now his main disability. We’d noticed he’s only been kicking with one leg. His left leg. My husband used to joke “he’s going to be left footed like David Beckham.” Something wasn’t right but I wasn’t sure what to or whether to do anything. Until Friday 4th February at my mum and dad whilst celebrating my dads birthday my mum said she could feel the heat coming from Dylan’s knee and we should get it looked at. That night I lay in bed. Dylan laying next to me I felt like I had a hot water bottle next to me his knee through his Baby-grow was getting warmer and warmer.
The next morning we dropped our daughter at a family member and arrived at PAH A&E a big sign outside said basically not to waste time if its unnecessary and to consult your GP. I said to my husband we are going to be in trouble here they will laugh us out of A&E. Oh no…… Fast forward a couple of hours and a bed has been booked in Peter Pan Ward at Great Ormond Street Children’s Hospital………. for SICK children!! OMG this was scary. They needed to operate. Why? I couldn’t take it all in. I hadn’t eaten, I wasn’t hungry but for those of you who know me know I have to eat, I felt weak and dizzy. It was now 1am. My husband found a vending machine and brought me a mint aero I forced a square down it tasted vile whilst we waited for the ambulance. More blue flashing lights, London town at night. We should be home in bed now not going through this, this completely new chapter of our lives. The beginning of what would change our lives forever.
I just wanted to run and hide. But I knew I had to be strong. And I never cried. Not once not even when they told me my baby boy was too ill to be put under a general anaesthetics, when they canulated his skull, when I watched them tube feeding him, when they put a pic line, a central line into his heart for all his medications. Brain scans. Heart scans. Knee scans. Bone scans. X-rays. Ultra sounds. MRI. EEG. ECG. orthopaedic, immunology, Rheumatology, cardiology, Gastro, respiratory, genetics, endocrine, neurologists, dieticians, physics, play leaders, infectious diseases, clinical nurse specialists, anaesthetists the list was endless there was never not a doctor in the room the the month we were there (minus one weekend that we were allowed home for when I was so run down I threw up and couldn’t move) in room 10 on Sky Ward, right by the nurses station, high dependancy – ouch that hurt! But at GOSH you’re in a bubble. A protective bubble. If your baby stopped breathing the doctors were there. If his dressing needed changing the doctors were there. If he pulled his NG tube out the doctors were there. At home he was reliant on me. And from that day to this that’s exactly what I am here for. I was put on this planet to care for my son. I am his career. And I love that I am able to be the one that looks after him and administer his meds, who when he eventually sleeps, sleeps on me. He needs me and I need him.
We were back and forth into GOSH for more investigations. Over the next few months, passed from one department to the next. We had one diagnosis of Polyarticular JIA – arthritis which requires a chemotherapy treatment Methotrexate for which I administer via injection for him to date. I don’t know how long he will be on to for but after 3 years we have got used to it.
He is immuno-suppresed anyway but the chemo and long term steroids make this worse. He’s had operations, procedures, investigations and tests but still no one in this world seems to have the answers we for so long have ached for.
Today I will still continue to look but if we don’t get the answer we are looking for wont change a thing. Dylan’s future is mapped out with or without a diagnosis and whatever happens he will always be perfect to me and my husband,our daughter & our family. I haven’t met a person who after meeting my Dylan, genuinely hasn’t fallen in love with him. He’s the sweetest natured child on this earth and lights up our world
He’s individual diagnosis is as follows Situs invertus, Dextrocardia, Apnoea episodes -thought to be a syndrome related to a heart condition currently under investigations, Sever Gastro-oesophageal reflux – following nissans may 2012, Polyarticular JIA, Global developmental delay, Sever growth hormone resistance (Dylan is the size weight and mentality of a 6-9 month old baby, Fine motor skills delay, Fixed flexation deformity of right leg, Failure to thrive, Immune suppressed, reoccurring infections, Under developed bowel, Gut allergies, Dairy lactose egg soya allergy, hemivertebrae T6-9, Hyper mobile, non-epileptic seizures, See the list is really endless Dylan is also non verbal he communicates like a small baby would although can say mumma, gar for his big sister and eeeeeeee for daddy. That’s from the excitement of seeing daddy come home from work.
He’s generally a happy boy when his pain is controlled and although on strong pain relief daily including codeine and morphine, he loves to play with cars and balls and of course his beautiful sister S. he loves to watch tv. Loves going out in the car and in the buggy. And mostly loves his McDonalds Chips – highlight of his week seeing the golden M, Birdseye potato waffles and Pom-bear crisps which he has for breakfast lunch and dinner (not the best nutritional diet anyone can have but doctors are aware and as he has loads of food allergies these are the only foods he will tolerate we’d rather see him eat something) as this, apart from his medicated formula Neocate LCP is his main foods.
I hope you’ve got an insight in our little lives. I could go on but feel you’ve probably had enough by now. Every day is another adventure, another appointment, a good day, a bad day and I’ve only enlightened you on the first 6 months of our baby’s life.
As I said Dylan is tiny only 9.9kg and 79cm in length. He looks normal(what’s normal??) no obvious dysmorphic features. If you walked past me in the street you would think I have a baby. He sits in a buggy as he fits so comfortably in one I am not ready for wheelchairs just yet although we have been put forward to wheelchair services.
Dylan didn’t smile till he was 8 months old, didn’t laugh until 14 months, didn’t start teething till 16 months, not able to sit up unaided till just recently at 39 months and he’s still incredibly wobbly He learnt to commando crawl at 21 months and only about a month ago has found the strength to get on all fours and crawl. All of the above is a massive achievement in our little boys life. People take a lot for granted I did with my daughter but everything Dylan does is extra extra special and I know it takes him a lot longer than others but I believe he WILL get there!!!
There’s lots of things he can’t do but I prefer to focus on what he can…….
There are so many other children out there whom are undiagnosed. We found a charity online and on Facebook which helps immensely hearing other stories and comparing issues. Although there is not another Dylan! We looked!! SWAN Uk part of Genetic Alliance has helped up loads just knowing you’re not completely alone. Although I am yet to meet anyone they are all online each and everyday for help and advice.
Hope you’ve enjoyed this read and would like to follow my future posts.
Love Dylan’s Mummy x