Our story

A friend said to me recently that I should write the story of how this blog came to be. The tale of how Sebastian came to be diagnosed and his adventures documented. So here goes…

Our beautiful baby boy, Sebastian, was finally born on the 17th December 2011 after a wonderful pregnancy and it was the best feeling in the world. Long awaited. What a Christmas present! Sebastian, entered this world in silence. No cry. The nurses nicknamed him ‘growler’ as he made this noise from his throat with every breathe. Initially I didn’t question the lack of crying, and was admitted onto the maternity ward and proceeded to let the world know of his birth. I thought I was in for the best Christmas ever. I was so keen to breastfeed and spend the first few days trying to master this, but not one nurse was successful in helping me to get Sebby to latch on. He just slept and was weak he couldn’t seem to do it or want to do it. The audiologist visited on day two and Sebby failed two newborn screening tests for hearing. He gave no response. I had a feeling he was deaf but remained hopeful that repeat tests in four weeks would prove otherwise. During his first bath, the nurse alerted us to a sacral dimple at the base of his spine. She terrified us saying it was a sign of spina bifida. I felt sick. I knew something wasn’t right so this news didnt really help! Later that day a registrar confirmed it was blind ended, a common abnormality with no risk. Phew! After six days in the ward I pushed to go home and the paediatrician that finally checked him over identified an ‘excessively large anterior fontenelle’. Clueless as to what this meant, we were taken up to ICU to have his head scanned with ultra sound. The doctors response was dead pan…it could be something….it may not…in fact he managed to brush it off, send us packing with a referral for follow up in four weeks time. We went home. The scary feeling of being new parents was there as was a bad feeling about Sebby’s health. It was not the new baby experience we had expected and wanted so badly at all. We put brave faces on for our family and carried on…

The following four weeks were pretty normal I suppose. Although I spent them with a huge feeling of dread hanging over us but kept quiet about it. Still Sebby hadn’t cried. My friends were very supportive and tried to reassure me that all babies are different and that one day he will cry. We had so many visitors which was lovely, bearing gifts and love. I pushed all scary feelings to the back of my mind and tried to carry on as normal. I attended my first and last baby group ‘Tiddliwinks’. Meeting other mums with similar aged babies was supposed to be a good idea. Their babies were all doing so well, developing fast and all of them were breast feeding…no wonder I went home and broke down crying for two hours. I think it hit me being exposed to the obvious – Sebby wasn’t like other babies. I persisted expressing every three hours but suffered mastitis twice probably because my supply was so low as Sebby had still not managed to engage with feeding. His feeds would take between 1 -1.5 hours to complete on the bottle and he was fed every 3 hours. Our world was a whirlwind of nappies, baby wipes, alarm clocks, sterilising, expressing, washing and abit of sleep if you were lucky.

Four weeks later we had an audiology appointment at Stafford hospital to attend. This confirmed what I already knew. Sebastian was bilaterally profoundly deaf. The truth was a shock but I knew that deaf children led happy and healthy lives and so we accepted the news instantly. Sebby was special. His fontenelle was still 8cm wide, however, and as friends consoled me about having a deaf child, I would sit there knowing that far worse news was to come. In early February, at four weeks old, Sebby’s head began to grow faster than his body, he looked poorly now looking back on pictures from then. A meet with friends was cut short when Sebastian has his first cluster of fits. We ended up in ambulance to Stafford hospital late at night. I went through his history to a kind doctor and his enterage…his large fontanelle, hearing problems, funny dimple, feeding problems, general floppiness, head growth, fits, no cry… I just remember thinking that at least now someone might listen to me. That I wasn’t imagining problems, but that a mother’s intuition was right. That night was horrid. A second cluster of fits led to emergency drugs being administered. He was placed in an incubator as his temperature plummeted. The ultrasound the next morning showed several large ventricular cysts on his brain. Googling brain cysts is not to be recommended. This was just the start.

We were soon transferred to City General hospital by ambulance and the investigations began. Sebastian was poked, prodded, stabbed with dozens of needles, scanned by CT, EEG, ECG, ultrasounds, x ray and MRI. Every organ of his body was checked, sometimes several times. Our friends were like angels, there every step of the way. After over a week of tests, we were discharged with open access whilst awaiting blood results from Birmingham. I remember being told by his now consultant neurologist that he was checking for treatable conditions and that it was unlikely to be a chromosome condition as Sebby did not have the obvious dismorphic features. We remained hopeful it was nothing. We returned the next week for a lumbar puncture which is the most awful procedure to watch and within two hours he was fitting again. His fits continued for a week and on one night he had 28 fits of up to four minutes long. It was only after sheer frustration to the doctors on mine and the nurses behalfs that he was medicated for them. They stopped. The final meeting on discharge was the lowest point for us so far. The doctor said Sebby may go undiagnosed as so far all results were negative. His organs were fine. He was negative for neurometabolic disorders. It was unlikely chromosomal. He said they would do their best to give Sebby a good ‘quality of life’. My heart sank and all we could do was let it out.

Over the next month, we attended many an appointment with the GP, community nurses, health visitors, audiologists and our neurologist. We continued going out. I felt self conscious that people were staring at him funny and this angered me. His head was large and misshapen. I just felt so protective of him and frustrated that noone really knew he was poorly. I suppose people are curious and other mums always look at other mums to compare. I hated this but do it myself too with every baby I see. But it just made me feel worse for Sebby. It is just not fair. Mums that dont seem to give their child the right attention or don’t appreciate how lucky they are sadden me. This feeling will always be with me. We eventually received a letter on our doorstep which was two sides long summarising the hospital investigations over the past few weeks. I read that Sebby was under investigation for….”a serious and possibly degenerative neurological disorder”. We hit google and scared ourselves. We continued to await news from the bloods from Birmingham. Second opinions were also being sort from Manchester. In early March he then had his first cold. This soon enough triggered his apneas. He spent his first night pausing every few minutes for several hours. I watched as my child turned blueish and gasped for his breathe. At hospital I remember the nurse looking at me as if I was going mad when I was trying to explain what he was doing exactly. That night he showed them himself and was put on oxygen. The following morning, our neurologist gave us Sebby’s diagnosis of 1p36 deletion syndrome and he tried to explain what it was in doctor speak. Stunned silence. He soon enough left us to be as a family with a leaflet on the syndrome and walked away. A rare chromosome disorder. We read the leaflet. Our world crumbled. Our child is disabled. It is likely he will never walk or talk. He is already deaf and I still to this day has fears for his eyesight. He may never fall in love..read…learn…may never call me mummy, he at best will only achieve limited independence… 24/7 care for life. A short life span and poor prognosis likely. Will he be discriminated against? Will we?

The sleep study test for his apneas should have been completed on air, however, Sebby needed his oxygen within two minutes. Even on oxygen, his SATS plummeted repeatedly over the night. His oxygen levels in his blood reaching around 30% and his pauses lasting over 1.5 minutes. The next morning Steve arrived and told me it takes a special kind of daddy to care for a disabled child and that he couldn’t wait to be that special daddy. We had accepted the disorder instantly thanks to unconditional love. We just wanted him to get better from these horrible apneas. One step at a time. We will deal with the long term stuff another day. Sebastian’s food was taken off him and he was put on a nasal-gastric tube. He had a video flueroscopy which confirmed acute reflux. This could have been triggering the apneas. Over the next ten days Sebastian continued to apnea every night, every two minutes for six or so hours at a time. Eventually he continued in the day. Clearly not reflux causing them. They weren’t a form of seizure. He ended up on PICU on the CPap machine which gave him rescue breathes. He ignored them. One nurse said “I think there was a cock up in the factory and they made some of them wrong”. Thanks for that nurse… His pattern was unique, no doctor had seen this before. No doctor has met a 1p36. Acute. Life threatening. We were met by the consultants and were told there was nothing they could do to stop them except permanently fully ventilate him. We were faced with, and advised over, this difficult decision. We had supposedly come to the end of the road. Sebby was more likely to die than survive. Could be within hours once he comes off CPap. That night, still on CPap, his SATS plummeted countless times. He hit zero % oxygen twice and remained in the low twenties many times. Anything lower than 92% is bad. He was bagged twice. The following day he came off the machine and we were taken to a side room where we baptised him. We photographed every inch of him. We spent this precious time alone as a family enjoying him, loving him. How can I bottle his smell? What will I do without him? Our hearts was breaking. Broken.

The next morning we were taken to another side room on the ward and were met by a lady from Donna Louise Hospice. Doctors were talking about Advanced Care Plans and what we wanted them to do in terms of resuscitation etc. It was all very serious stuff yet very surreal, but never felt right somehow. I sat there and listened. I couldn’t believe we were losing him. I was just willing Sebby to get to Mothers day on the 18th March. One day at a time. Don’t give up little man. It was this day I decided to start this blog. To record his progress, as progress was what he would make. He would not die and I knew it somehow.

The rest of our story is on the blog.

Since this blog has began, we have been inundated with love and positive thoughts from or friends and family. This keeps us going and keeps us sane so thank you to everyone that has been listening to our updates. It shows you really do care. Life goes on as it did before but just following a very different path. We are strong because we have to be. We take one day at a time. We enjoy him – that is an understatement! It is a privilege to be Sebastian’s parents so we don’t need pity from anyone, we just need compassion. Anyway, it is overrated to have all your chromosomes I reckon!

I hope you enjoy following his progress. Welcome to The Adventures of Sebastian…