Bike ride for Sophia Macy Welsh
Donation protected
On the 4th of June 2016 an incredible bunch of men are doing a bike ride in honour of our beautiful baby girl from Blyth to Rothbury with a very tricky route. I thank every single one of you for doing this
If you would like to know more about my baby's conditions please feel free to visit -
sophias story, we have hOpe on Facebook.
All money raised will go towards specialist equipment, to make memories and to have special times together known she never ever went without things she needs to help bring out the best in her - to help her thrive for as long as we are blessed to have her with us.
please use use this page if you would like to donate. Xx
It has taken me so long to have the stregnth and courage to actually sit and not only type about everything that has gone on over this last year, but to think about it aswell, I now feel strong enough and think it's so important to share our story for awareness and for anyone who finds themselves in similar situations...
We were so excited for our scan to see our baby, during the scan the sonographer pointed out our baby's strong heartbeat, hands and feet.. She then paused.. and concentrated on one part of our baby. She went silent, I asked time and time again what was wrong and had no answer. I looked at Lee and he just shook his head and held my hand. I tried to sit up and was asked to lie back down. she turned the screen of my baby away from me, and said 'ok, there's something not quite as it should be with your baby's brain, I would like to send you to fetal medicine at the RVI for a second opinion, the fluid ventricles in your baby's brain are bigger than they should be'... little did we know from that day on our whole lives were about to change.
The day after is a blur, I can't really remember what I done? However, the day after that - Friday the 16th of January was our first ever visit to fetal medicine at the RVI.. we were scanned and we were told our baby was too young to tell if there was something 'definitely wrong' so we were to go back in 4 weeks time, that would take me to being 16 weeks pregnant. we were told to try not to worry as they thought that maybe over the next 4 weeks things would just correct themselves..
4 weeks dragged and dragged and dragged, we couldn't get excited, but we wanted too - we couldn't cry because we needed to be strong - neither of us had any idea what to think? All I knew was my baby was Inside of me, and I needed to take care of this precious life.
Eventually 4 weeks passed, we went back to fetal medicine and we met a man called Dr Sturgiss, I had no idea this man was about to become such a big part of my life. we had a scan, got to see our baby what a difference 4 weeks made, our baby was getting bigger and stronger. Dr Sturgiss scanned me and asked us to go back to our counselling room and he would be joining us very soon. He came in the room, sat down and shook his head. 'Im sorry, things haven't gone how we thought they would have - your baby has a lot more fluid on the brain than he or she should have, this is a lot more serious than we first ever imagined' .. We spoke a lot, cried a lot and asked questions.
We were given the option of aborting the pregnancy no further questions - that wasn't ever an option for either me or lee. We has created this baby and she deserved a chance to fight. We were then given several other options, one being to walk away from fetal medicine and to see where the pregnancy took us.. or to have an amniocentesis which would detect if our baby had any chromosome problems, there was a chance our baby could have a condition such as Down syndrome, Edward syndrome or Patau Syndrome. The amniocentesis involved a long needle into my stomach to take some of the baby's urine to test for chromosome problems. We agreed to go ahead with the Amnio, I had it that day. It wasn't nice at all, I felt guilty putting a needle into my baby's little home.. but I knew finding out as much as we could was what would give her the best chance. We were told we would get the results by phonecall 5 days after, and we would be told the sex of the baby.
I remember looking at my phone, seeing 'UNKNOWN' calling me, the lady who performed the Amnio was on the phone. she told me there was no chromosomal problems detected, and that we were having a little girl. I couldn't even speak, the lady could tell I couldn't speak and told me to return back to fetal medicine for a scan on the Wednesday.
As the weeks went on I had scan after scan after scan, each week the fluid in her brain increased and increased, her head size went up and up. We spoke with neonatal consultants (baby doctors), about how unwell our baby could be when she was born, they told us they would have life support ready and showed us around The special care baby unit at the RVI.
One of our scans around the 21 week mark, Dr Sturgiss told me that our baby's heart was now looking slightly bigger than average, and she had something called 'Bi directional flow' which means her blood travels the wrong way around her body. He asked if we could return the following day too see a heart specialist in fetal medicine..
We came back and met yet another man who quite literally played a huge part in saving not only my life but my special girls life.
As the weeks went on, we were scanned sometimes twice weekly - once with Dr Sturgiss for her brain. And once for her heart with Dr Moran. During these scans they then diagnosed me with something called Polyhyndramnios, I had too much amniotic fluid (water surrounding the baby) in my tummy, I was getting bigger and bigger as they days went on.. our baby wasn't swallowing the water inside of me. they drained 2.5 litres of fluid out of me when I was 32 weeks pregnant, they also told us that our baby's heart had gotten to such a size they could no longer see her lungs. they referred to her as 'a little conundrum', at one point I had 5 specialists in the room looking at my baby whilst scanning, shaking their heads Hmming and harring. One consultant sat us down and told us that things were really not looking good at all, she was a 'one off' and they had never seen all of these things she had together before - she told us we needed to make a choice and if she wasn't strong enough at birth did we want to give her a cuddle and let her sleep peacefully or put her onto life support and have a few days with her.
Everything felt like it was falling apart, I remember sobbing myself to sleep that night thinking we were so close to meeting our baby I begged and begged her to hang in a little longer and we would meet her and give her the strength she needed. They told me it was only a matter of time before I was kept in hospital and we would both be monitored closely..
On the 18th of June 2015, Dr Moran (head of fetal medicine) scanned me and told me he had never seen anyone with a bump the size of mine, I had more fluid in my tummy than ever before and in his words 'I was ready to pop', I had to stay in hospital. I was devastated, I pleaded and begged with him to let me go home for one last night, he wouldn't let me and told me this was it, he was delivering my baby by cesearean section on the 20th of June, the Saturday morning. Little did we no, nature had other plans.
My waters ruptured that night and the cord prolapsed, I was by myself utterly terrified at what was about to happen. They had 6 minutes to save my life and 12 to save my baby's.. I can't thank the 28 people involved in that delivery suite enough for what they done for me, and my baby that night. At 00:22 on the 19th of June Sophia Macy Welsh entered this world at 35 weeks, weighing 5 and a half pound estimated. She tried to cry, had a little bit of trouble but she tried.. she was on low oxygen but doing fantastic.
Although Sophia's story started so early in my pregnancy this was really where it all began, we had our baby girl here with us. Sophia went to SCBU, where she was cared for on a 1-1, lots of tests were carried out and each day Sophia seemed to get stronger and stronger. We had been promised and MRI scan on her brain from early in my pregnancy, we pushed and pushed and eventually Sophia had an MRI brain scan. We got the results within 2 hours of being back from MRI. they sat us down with Sophia beside us in her cot and explained that the front part of Sophia's brain had failed to seperate in the 5th and 6th week of my pregnancy.. the front part of her brain is fused together..
Sophia was diagnosed with Lobar Holoprosencephaly. Holoprosencephaly is a life threatening disorder caused by the failure of the prosencephalon (the embryonic forebrain) to sufficiently divide into the double lobes of the cerebral hemispheres. The result is a single-lobed brain structure and severe skull and facial defects. In most cases of holoprosencephaly, the malformations are so severe that babies die before birth. In less severe cases, babies are born with a near-normal brain development and facial deformities that may affect the eyes, nose and upper lip.
Although Sophia doesn't have any obvious facial deformities her ears are very low.
We were told to expect learning difficulties, sensory difficulties, physical difficulties, fits and seizures, co-ordination difficulties, feeding difficulties.. The list is endless. Alongside Holoprosencephaly, Sophia has severe hydrocephalus (extra fluid on her brain), she has bi directional flow (her blood flows the wrong way around her body and sometimes trickles into her lungs), her heart is bigger than the average heart therefore works a little harder, she has a very small hole in the heart, one part of her brain called the corpus collosum is very thin, and too add to her collection she was 5 weeks early and tube fed for around 8 weeks.
Sophia under went an emergency operation at just 2 weeks old as her bowels hadn't stuck down the correct way whilst I was pregnant, they were twisted and it was causing troubles with Sophia aspirating bright green.. I remember being utterly terrified asking one of the surgeons if she was going to die - they couldn't reply with a no. The hours during the operation felt like the longest time of my life, it was thundering and lightening outside and I remember just wanting to keep her safe.
We were told to go along to Peadiatric Intensive Care Unit and she would be there, we got there - our baby girl, what had happened? She was on life support, her eyes were rolling to the back of her head, alarms and buzzers everywhere.. Sobbing but no noise. I couldn't hold her, touch her- scars all across her tummy, BUT she fought. she was here and she fought her whole way through, I had every faith she would continue. The next day they told us they were going to take Sophia off her life support machine and see how she done on her own.
The first half an hour went great, she was breathing on her own with the odd bit of oxygen when needed. I then noticed Sophia's chest going in and out much harder than it ever had before - I pointed this out to the nurses and they observed her - 'She's starting to struggle can we be in?' They said, myself and lee took a step back and watched them use different equipment on our baby girl trying to help her with her breathing - they called on more doctors and pulled the curtains around - 'please would you go and wait in the family room'.. We left. I was hysterical - what was happening? Why couldn't she cope without life support? She hadn't ever needed it when she was born why now? The family room started filling up with parents faces of sorrow towards us, 'they asked us to leave aswell' they said.
1 hour later a nurse came in, you can come back in now. we went back in and Sophia was back on life support. They explained that when they had removed the tubes the last time they cut her throat so everything in her throat had swelled up and caused breathing difficulties. 2 days later they tried again after giving lots of steroids and Sophia done it, she managed really well and carried on breathing by herself.
Sophia carried on recovering well and we were aloud home a week later, her first time at home.
With regular visits to hospital because of her head size increasing lead to a decision being made that Sophia then needed brain surgery, she was having a shunt fitted into her brain to drain the fluid off.. the surgery took 3 hours, we were there when they put her to sleep and we left to allow the professionals to do what they are best at. Sophia recovered much quicker from this operation, no PICU or life support machines - that's when we knew we had a true little warrior on our hands.
Sophia has sometimes up to 4 appointments a week, we are currently still waiting on her bloods returning from London testing for certain genetic conditions. She has amazing support from her physio, occupational therapist, health visitor, speech and language, dietician, community nurses, consultant, neuro consultant and our family doctor.
When you look at statistics there was only a 3% chance that Sophia should have survived until birth having Holoprosencephaly, that's not including all of her other specialities.. our baby girl is a true miracle. At the moment they are busy looking into diagnosing her with severe sensory needs, she's struggling with feeding times because she wants to be stimulated whenever she needs to concentrate.
The support myself, lee and our families have had from not only each other but from friends is unbelievable, and we truely believe our little girl is still fighting through her battles because of the support she recieves each and every day.
From the very very bottom of our hearts we thank you all, for having HOPE and believing in Sophia. This is Sophia's story so far, and she's only 4 month old! bring on the rest of her adventures xxx
Sophia's story! From 4 month to 6 and a half month..
Wow!! I can't believe how much has gone on over the past 2 and a half months.
At around 5 months old Sophia was taken to hospital as she had spiking temperatures getting as high as up to 39.9.. She was kept over night for observations and had an MRI and shunt tap to check how things were going. We met with Sophia's consultant Mr Ross, he explained to us that since looking at the MRI's his job certainly wasn't finished. Different parts of Sophia's brain weren't communicating as they weren't connected so all of the extra fluid wasn't able too drain. He said he would go away and speak with him team of neurosurgeons to see what the best thing to do would be. We were discharged. We were due back to see him in just 10 days. Sophia's head growth is monitored closely and we noticed a little jump up in head size, strange things started happening where Sophia would just stop breathing for 3 seconds or so (believe me it felt like 3 hours!!).
We went back to see Mr Ross and he explained after a chat with his neuro team and studying Sophia's MRI - something needed done and it needed done sooner rather than later. Sophia had a fluid filled cyst that wasn't connected to the ventricles so therefore couldn't drain. It couldn't drain and it was starting to put pressure on the cerebellum which is the part of brain that tells you to breath - this was a lot more serious than we first ever thought.
Mr Ross told us he would like to operate on Sophia & soon. When he meant soon he meant in 3 days time. He explained to us that the surgery was complicated surgery - and when he had done it in the past the child had died during surgery. I just knew handing her over on the Friday was going to be the hardest thing I had ever done - but this surgery was life or death. If we didn't go ahead with surgery he explained that Sophia would simply just stop breathing and we would loose her. There was no choice, this needed done.
The Friday morning arrived so quickly, 7:45am.. ward 1B..RVI.
We took Sophia down to theatre I remember singing 'wind the bobbin up' just minutes before we took her through to the anesthetic room.. She was giggling and laughing straight at me - no idea what was about to happen.. & here we were with our brave faves still making her giggle. Sophia lay in my arms while they gave her the gas to make her sleepy ready for the ventilation tubes. Every three seconds I could feel her getting heavier and heavier. She was asleep and I lay her on the table - looked at her anithnitest straight in the face saying 'please look after her'. 'I promise I will' he replied.
3 hours felt like 3000 years. Then eventually someone came for us, Sophia is in recovery we will take you down. We arrived and there she was, our beautiful strong little girl getting cuddles off all the recovery team - sleepy but awake!! Sophia returned to the ward where she seemed to be recovering well, drinking her bottles and starting to smile and get back to her normal cheeky self.
Myself and Sophia's nurse noticed her wound was looking wet, and there's was damp patches on her pillow. We lifted her and held her & more fluid was leaking from her wound. They rang Sophia's consultant and his registra who came straight away, Sophia's wound was leaking CSF fluid (fluid from around the brain and spine). They tried to glue it but it was leaking through more and more. They decided she would need to go back down to surgery that night as there was 85% risk of meningitis if they didn't close the wound. 'A very simple procedure we are literally just going to put her back to sleep and add more stitches, we won't be going into her head again. She will be away 1 hour maximum' we were told.
At 10:30 that night Sophia went back down to surgery, same thing all over again. Back to sleep in my arms and I lay her on the table again, pleading with them all yet again to look after her. 'Of course we will try our best' they said. & even though what happened next happened, I truly believe from the bottom of my heart Sophia was looked after to the highest standard in that room...
2 hours had passed and we were both starting to get very anxious.. back and forward to the nurses station asking what was going on and if there was any news. Still nothing.
At 1am there was a knock on the door. It was Sophia's anithnitest, quite honestly the most lovely man I've ever came across. He came in and asked us to sit down..
'I'm sorry we have been so long, Sophia's had the stitches in her head and that has all gone as planned the leaking has stopped. However.. Sophia has found herself in a lot of trouble. Minutes after you left her we put the ventilation tube down to Sophia's lungs and the tube started to fill with milk. Sophia gagged and regurgitated milk whilst we tried to put her to sleep and the milk has ended up on her lungs (aspiration). There wasn't just a little milk there was a lot. We stopped what we were doing and we monitored Sophia closely. She coped well throughout the procedure and we watched her oxygen and heart rate.. We were happy to let the surgeons continue. The time came to wake Sophia up and she done all the right things.. We took the tube out and Sophia was going for it grabbing it and crying which were both good signs.
However we then began to watch Sophia's chest. She began to work extremely hard with her breathing. Sophia's oxygen levels were dropping. Sophia's life and safety was our 100% main priority. Therefore unfortunately we have had no choice but too put Sophia's ventilator back down, she's on life support and my team are currently taking her along to PICU (pediatric intensive care unit) getting her comfortable and settled. I am so so sorry this has happened do you have any questions?'
Neither me or lee could speak, we sat and we sobbed. He gave us all the time we needed. Lee asked 'so what is going to happen now?'
He continued to talk, 'well one thing I'm not here to do is to fill you with false hope and lies. We have no idea where this is going to go. The next 48 hours are crucial and critical for Sophia. We would like a chest X-ray done tonight to see if her lungs have collapsed and how much milk is in them. I hope Sophia does pull through this but like I say, I'm not here to lie and it could go either way. I'm so sorry this has happened.'
Utterly heartbroken, I can remember those words like they were an hour ago. I often just sit and reply them over and over in my head. But in that moment that wasn't what I needed to do, we needed to be strong.. And brave just like I new she would be. Eventually at 1:30am we were took to PICU where we got to see our girl. She was lying there so peaceful, she was on 100% oxygen and was completely relying on the life support machine to breathe for her. I felt helpless and heartbroken. It was so hard to believe that hours before this she was laughing and smiling thinking 'brain surgery? Pfffft'.
The next few days all roll into 1, slowly but surely Sophia began to get stronger and stronger. She had physio three times a day to suction the milk from her lungs and to help her get some of the milk up by coughing. Sophia managed amazingly coming off life support, still very unwell but slow steps of progress was all we needed from her & that she was doing!
Over the next week it felt like 2 steps forward one step back. Sophia was starting to get back to herself but she was clinging on to the oxygen, really relying on it a lot. She wasn't able to drink her bottles so back on the NG tube. She had lost all head control and we were back to where we were when she was first born. She was restless and irritated and just wanted to be home. Sophia was sent for an MRI scan so that her neurosurgeon Mr Ross could see if his surgery had been successful to reduce the size of the fluid filled cyst. We got the best news ever! He was happy with her shunt. He decided because Sophia is so complex and she literally can change rapidly he would like an MRI done every 3 months. We are due for her to have another one soon. 3 days before Christmas we managed to get home. THE BEST FEELING EVER. We were coming home for Christmas ❤️
Christmas was lovely, quiet but lovely. Sophia still wasn't herself she was very sleepy and her shunt was large. We ended up back in hospital on Boxing Day to see her neuro team to get the shunt checked out. He explained to us that this is just what would happen, they had drilled than many holes through Sophia's skull it's now like she has a second soft spot on the side of her head where her shunt is, we just have to keep a close eye on things.
Right now as it stands Sophia is doing pretty well, she's began her physio and OT sessions. She's back being tube fed but is much more content, and she's having some food when she fancies. She has good days and bad but right now i can say more good than bad. She has a few more big meetings and appointments coming up and of course her MRI scan.
Sophia's sensory needs are what is taken control over her so much, she is shaking her head and pushing her head backwards because of her severe vestibular sensory processing needs. When she's having a bad day and struggling her lights bring her back to where she needs to be. she struggles to be in busy loud places and can't bare change. Her OT's are working her hard with a program to help her with these.
We recently seen Sophia's genetics Doctor; as it stands right now they still haven't managed to find out which gene 'went wrong' in Sophia and therefore cannot give her a genetic diagnosis. They've tested Sophia for all of the typical genetic disorders which they link with holoprosencephaly and she tested negative for all of these.. So now it's time to dig a little deeper and look at much rarer genetic conditions. Her doctor is putting Sophia's case forward to other genetic doctors to see if she will be eligible for a certain kind of genetic testing which will test every single gene and tell them exactly which gene has been affected and caused all of our baby's specialities. When I was pregnant they told me to think of Sophia's body as a book, they would check the pages in her book - they've all tested negative.. They've checked the chapters - negative.. How many words on each page - negative!! so now it's time to get down to the nitty gritty and test every single spelling in each word throughout the whole book to find this spelling mistake. We asked yesterday if when they find the condition if it would be rare - the doctor replied 'everything about this little girl is special and rare'.
Sophia got to over 6 month old. Now to everyone else that's just half a year, it's no big deal. But to us that is EVERYTHING.
3% OF CHILDREN WITH HOLOPROSENCEPHALY SURVIVE UNTIL BIRTH. A TINY 1%!!!!!!! OF CHILDREN SURVIVE UNTIL THEY ARE 6 MONTH OLD. we are in that 1%. Our baby girl is a true miracle ❤️
From the bottom our heart we would like to say thank you, too every single person who sends well wishes, love and support to myself, lee and our special girl.
You may not believe it but when your world is fallen apart not knowing if your going to loose your child - those kinds words give us the strength to put a smile and brave face on for Sophia.
Every penny that has been raised for Sophia is treasured, we have her sensory corner unit ordered which will hopefully be arriving next week.
We are hoping to get her special monitors soon she is able to go into her own room but they are out of stock right now. She has a large sensory mirror which she adores to watch her lights in.
I can hand on my heart say that Sophia loves being on this earth, and we will do everything we possibly can to keep it that way xxx
If you would like to know more about my baby's conditions please feel free to visit -
sophias story, we have hOpe on Facebook.
All money raised will go towards specialist equipment, to make memories and to have special times together known she never ever went without things she needs to help bring out the best in her - to help her thrive for as long as we are blessed to have her with us.
please use use this page if you would like to donate. Xx
It has taken me so long to have the stregnth and courage to actually sit and not only type about everything that has gone on over this last year, but to think about it aswell, I now feel strong enough and think it's so important to share our story for awareness and for anyone who finds themselves in similar situations...
We were so excited for our scan to see our baby, during the scan the sonographer pointed out our baby's strong heartbeat, hands and feet.. She then paused.. and concentrated on one part of our baby. She went silent, I asked time and time again what was wrong and had no answer. I looked at Lee and he just shook his head and held my hand. I tried to sit up and was asked to lie back down. she turned the screen of my baby away from me, and said 'ok, there's something not quite as it should be with your baby's brain, I would like to send you to fetal medicine at the RVI for a second opinion, the fluid ventricles in your baby's brain are bigger than they should be'... little did we know from that day on our whole lives were about to change.
The day after is a blur, I can't really remember what I done? However, the day after that - Friday the 16th of January was our first ever visit to fetal medicine at the RVI.. we were scanned and we were told our baby was too young to tell if there was something 'definitely wrong' so we were to go back in 4 weeks time, that would take me to being 16 weeks pregnant. we were told to try not to worry as they thought that maybe over the next 4 weeks things would just correct themselves..
4 weeks dragged and dragged and dragged, we couldn't get excited, but we wanted too - we couldn't cry because we needed to be strong - neither of us had any idea what to think? All I knew was my baby was Inside of me, and I needed to take care of this precious life.
Eventually 4 weeks passed, we went back to fetal medicine and we met a man called Dr Sturgiss, I had no idea this man was about to become such a big part of my life. we had a scan, got to see our baby what a difference 4 weeks made, our baby was getting bigger and stronger. Dr Sturgiss scanned me and asked us to go back to our counselling room and he would be joining us very soon. He came in the room, sat down and shook his head. 'Im sorry, things haven't gone how we thought they would have - your baby has a lot more fluid on the brain than he or she should have, this is a lot more serious than we first ever imagined' .. We spoke a lot, cried a lot and asked questions.
We were given the option of aborting the pregnancy no further questions - that wasn't ever an option for either me or lee. We has created this baby and she deserved a chance to fight. We were then given several other options, one being to walk away from fetal medicine and to see where the pregnancy took us.. or to have an amniocentesis which would detect if our baby had any chromosome problems, there was a chance our baby could have a condition such as Down syndrome, Edward syndrome or Patau Syndrome. The amniocentesis involved a long needle into my stomach to take some of the baby's urine to test for chromosome problems. We agreed to go ahead with the Amnio, I had it that day. It wasn't nice at all, I felt guilty putting a needle into my baby's little home.. but I knew finding out as much as we could was what would give her the best chance. We were told we would get the results by phonecall 5 days after, and we would be told the sex of the baby.
I remember looking at my phone, seeing 'UNKNOWN' calling me, the lady who performed the Amnio was on the phone. she told me there was no chromosomal problems detected, and that we were having a little girl. I couldn't even speak, the lady could tell I couldn't speak and told me to return back to fetal medicine for a scan on the Wednesday.
As the weeks went on I had scan after scan after scan, each week the fluid in her brain increased and increased, her head size went up and up. We spoke with neonatal consultants (baby doctors), about how unwell our baby could be when she was born, they told us they would have life support ready and showed us around The special care baby unit at the RVI.
One of our scans around the 21 week mark, Dr Sturgiss told me that our baby's heart was now looking slightly bigger than average, and she had something called 'Bi directional flow' which means her blood travels the wrong way around her body. He asked if we could return the following day too see a heart specialist in fetal medicine..
We came back and met yet another man who quite literally played a huge part in saving not only my life but my special girls life.
As the weeks went on, we were scanned sometimes twice weekly - once with Dr Sturgiss for her brain. And once for her heart with Dr Moran. During these scans they then diagnosed me with something called Polyhyndramnios, I had too much amniotic fluid (water surrounding the baby) in my tummy, I was getting bigger and bigger as they days went on.. our baby wasn't swallowing the water inside of me. they drained 2.5 litres of fluid out of me when I was 32 weeks pregnant, they also told us that our baby's heart had gotten to such a size they could no longer see her lungs. they referred to her as 'a little conundrum', at one point I had 5 specialists in the room looking at my baby whilst scanning, shaking their heads Hmming and harring. One consultant sat us down and told us that things were really not looking good at all, she was a 'one off' and they had never seen all of these things she had together before - she told us we needed to make a choice and if she wasn't strong enough at birth did we want to give her a cuddle and let her sleep peacefully or put her onto life support and have a few days with her.
Everything felt like it was falling apart, I remember sobbing myself to sleep that night thinking we were so close to meeting our baby I begged and begged her to hang in a little longer and we would meet her and give her the strength she needed. They told me it was only a matter of time before I was kept in hospital and we would both be monitored closely..
On the 18th of June 2015, Dr Moran (head of fetal medicine) scanned me and told me he had never seen anyone with a bump the size of mine, I had more fluid in my tummy than ever before and in his words 'I was ready to pop', I had to stay in hospital. I was devastated, I pleaded and begged with him to let me go home for one last night, he wouldn't let me and told me this was it, he was delivering my baby by cesearean section on the 20th of June, the Saturday morning. Little did we no, nature had other plans.
My waters ruptured that night and the cord prolapsed, I was by myself utterly terrified at what was about to happen. They had 6 minutes to save my life and 12 to save my baby's.. I can't thank the 28 people involved in that delivery suite enough for what they done for me, and my baby that night. At 00:22 on the 19th of June Sophia Macy Welsh entered this world at 35 weeks, weighing 5 and a half pound estimated. She tried to cry, had a little bit of trouble but she tried.. she was on low oxygen but doing fantastic.
Although Sophia's story started so early in my pregnancy this was really where it all began, we had our baby girl here with us. Sophia went to SCBU, where she was cared for on a 1-1, lots of tests were carried out and each day Sophia seemed to get stronger and stronger. We had been promised and MRI scan on her brain from early in my pregnancy, we pushed and pushed and eventually Sophia had an MRI brain scan. We got the results within 2 hours of being back from MRI. they sat us down with Sophia beside us in her cot and explained that the front part of Sophia's brain had failed to seperate in the 5th and 6th week of my pregnancy.. the front part of her brain is fused together..
Sophia was diagnosed with Lobar Holoprosencephaly. Holoprosencephaly is a life threatening disorder caused by the failure of the prosencephalon (the embryonic forebrain) to sufficiently divide into the double lobes of the cerebral hemispheres. The result is a single-lobed brain structure and severe skull and facial defects. In most cases of holoprosencephaly, the malformations are so severe that babies die before birth. In less severe cases, babies are born with a near-normal brain development and facial deformities that may affect the eyes, nose and upper lip.
Although Sophia doesn't have any obvious facial deformities her ears are very low.
We were told to expect learning difficulties, sensory difficulties, physical difficulties, fits and seizures, co-ordination difficulties, feeding difficulties.. The list is endless. Alongside Holoprosencephaly, Sophia has severe hydrocephalus (extra fluid on her brain), she has bi directional flow (her blood flows the wrong way around her body and sometimes trickles into her lungs), her heart is bigger than the average heart therefore works a little harder, she has a very small hole in the heart, one part of her brain called the corpus collosum is very thin, and too add to her collection she was 5 weeks early and tube fed for around 8 weeks.
Sophia under went an emergency operation at just 2 weeks old as her bowels hadn't stuck down the correct way whilst I was pregnant, they were twisted and it was causing troubles with Sophia aspirating bright green.. I remember being utterly terrified asking one of the surgeons if she was going to die - they couldn't reply with a no. The hours during the operation felt like the longest time of my life, it was thundering and lightening outside and I remember just wanting to keep her safe.
We were told to go along to Peadiatric Intensive Care Unit and she would be there, we got there - our baby girl, what had happened? She was on life support, her eyes were rolling to the back of her head, alarms and buzzers everywhere.. Sobbing but no noise. I couldn't hold her, touch her- scars all across her tummy, BUT she fought. she was here and she fought her whole way through, I had every faith she would continue. The next day they told us they were going to take Sophia off her life support machine and see how she done on her own.
The first half an hour went great, she was breathing on her own with the odd bit of oxygen when needed. I then noticed Sophia's chest going in and out much harder than it ever had before - I pointed this out to the nurses and they observed her - 'She's starting to struggle can we be in?' They said, myself and lee took a step back and watched them use different equipment on our baby girl trying to help her with her breathing - they called on more doctors and pulled the curtains around - 'please would you go and wait in the family room'.. We left. I was hysterical - what was happening? Why couldn't she cope without life support? She hadn't ever needed it when she was born why now? The family room started filling up with parents faces of sorrow towards us, 'they asked us to leave aswell' they said.
1 hour later a nurse came in, you can come back in now. we went back in and Sophia was back on life support. They explained that when they had removed the tubes the last time they cut her throat so everything in her throat had swelled up and caused breathing difficulties. 2 days later they tried again after giving lots of steroids and Sophia done it, she managed really well and carried on breathing by herself.
Sophia carried on recovering well and we were aloud home a week later, her first time at home.
With regular visits to hospital because of her head size increasing lead to a decision being made that Sophia then needed brain surgery, she was having a shunt fitted into her brain to drain the fluid off.. the surgery took 3 hours, we were there when they put her to sleep and we left to allow the professionals to do what they are best at. Sophia recovered much quicker from this operation, no PICU or life support machines - that's when we knew we had a true little warrior on our hands.
Sophia has sometimes up to 4 appointments a week, we are currently still waiting on her bloods returning from London testing for certain genetic conditions. She has amazing support from her physio, occupational therapist, health visitor, speech and language, dietician, community nurses, consultant, neuro consultant and our family doctor.
When you look at statistics there was only a 3% chance that Sophia should have survived until birth having Holoprosencephaly, that's not including all of her other specialities.. our baby girl is a true miracle. At the moment they are busy looking into diagnosing her with severe sensory needs, she's struggling with feeding times because she wants to be stimulated whenever she needs to concentrate.
The support myself, lee and our families have had from not only each other but from friends is unbelievable, and we truely believe our little girl is still fighting through her battles because of the support she recieves each and every day.
From the very very bottom of our hearts we thank you all, for having HOPE and believing in Sophia. This is Sophia's story so far, and she's only 4 month old! bring on the rest of her adventures xxx
Sophia's story! From 4 month to 6 and a half month..
Wow!! I can't believe how much has gone on over the past 2 and a half months.
At around 5 months old Sophia was taken to hospital as she had spiking temperatures getting as high as up to 39.9.. She was kept over night for observations and had an MRI and shunt tap to check how things were going. We met with Sophia's consultant Mr Ross, he explained to us that since looking at the MRI's his job certainly wasn't finished. Different parts of Sophia's brain weren't communicating as they weren't connected so all of the extra fluid wasn't able too drain. He said he would go away and speak with him team of neurosurgeons to see what the best thing to do would be. We were discharged. We were due back to see him in just 10 days. Sophia's head growth is monitored closely and we noticed a little jump up in head size, strange things started happening where Sophia would just stop breathing for 3 seconds or so (believe me it felt like 3 hours!!).
We went back to see Mr Ross and he explained after a chat with his neuro team and studying Sophia's MRI - something needed done and it needed done sooner rather than later. Sophia had a fluid filled cyst that wasn't connected to the ventricles so therefore couldn't drain. It couldn't drain and it was starting to put pressure on the cerebellum which is the part of brain that tells you to breath - this was a lot more serious than we first ever thought.
Mr Ross told us he would like to operate on Sophia & soon. When he meant soon he meant in 3 days time. He explained to us that the surgery was complicated surgery - and when he had done it in the past the child had died during surgery. I just knew handing her over on the Friday was going to be the hardest thing I had ever done - but this surgery was life or death. If we didn't go ahead with surgery he explained that Sophia would simply just stop breathing and we would loose her. There was no choice, this needed done.
The Friday morning arrived so quickly, 7:45am.. ward 1B..RVI.
We took Sophia down to theatre I remember singing 'wind the bobbin up' just minutes before we took her through to the anesthetic room.. She was giggling and laughing straight at me - no idea what was about to happen.. & here we were with our brave faves still making her giggle. Sophia lay in my arms while they gave her the gas to make her sleepy ready for the ventilation tubes. Every three seconds I could feel her getting heavier and heavier. She was asleep and I lay her on the table - looked at her anithnitest straight in the face saying 'please look after her'. 'I promise I will' he replied.
3 hours felt like 3000 years. Then eventually someone came for us, Sophia is in recovery we will take you down. We arrived and there she was, our beautiful strong little girl getting cuddles off all the recovery team - sleepy but awake!! Sophia returned to the ward where she seemed to be recovering well, drinking her bottles and starting to smile and get back to her normal cheeky self.
Myself and Sophia's nurse noticed her wound was looking wet, and there's was damp patches on her pillow. We lifted her and held her & more fluid was leaking from her wound. They rang Sophia's consultant and his registra who came straight away, Sophia's wound was leaking CSF fluid (fluid from around the brain and spine). They tried to glue it but it was leaking through more and more. They decided she would need to go back down to surgery that night as there was 85% risk of meningitis if they didn't close the wound. 'A very simple procedure we are literally just going to put her back to sleep and add more stitches, we won't be going into her head again. She will be away 1 hour maximum' we were told.
At 10:30 that night Sophia went back down to surgery, same thing all over again. Back to sleep in my arms and I lay her on the table again, pleading with them all yet again to look after her. 'Of course we will try our best' they said. & even though what happened next happened, I truly believe from the bottom of my heart Sophia was looked after to the highest standard in that room...
2 hours had passed and we were both starting to get very anxious.. back and forward to the nurses station asking what was going on and if there was any news. Still nothing.
At 1am there was a knock on the door. It was Sophia's anithnitest, quite honestly the most lovely man I've ever came across. He came in and asked us to sit down..
'I'm sorry we have been so long, Sophia's had the stitches in her head and that has all gone as planned the leaking has stopped. However.. Sophia has found herself in a lot of trouble. Minutes after you left her we put the ventilation tube down to Sophia's lungs and the tube started to fill with milk. Sophia gagged and regurgitated milk whilst we tried to put her to sleep and the milk has ended up on her lungs (aspiration). There wasn't just a little milk there was a lot. We stopped what we were doing and we monitored Sophia closely. She coped well throughout the procedure and we watched her oxygen and heart rate.. We were happy to let the surgeons continue. The time came to wake Sophia up and she done all the right things.. We took the tube out and Sophia was going for it grabbing it and crying which were both good signs.
However we then began to watch Sophia's chest. She began to work extremely hard with her breathing. Sophia's oxygen levels were dropping. Sophia's life and safety was our 100% main priority. Therefore unfortunately we have had no choice but too put Sophia's ventilator back down, she's on life support and my team are currently taking her along to PICU (pediatric intensive care unit) getting her comfortable and settled. I am so so sorry this has happened do you have any questions?'
Neither me or lee could speak, we sat and we sobbed. He gave us all the time we needed. Lee asked 'so what is going to happen now?'
He continued to talk, 'well one thing I'm not here to do is to fill you with false hope and lies. We have no idea where this is going to go. The next 48 hours are crucial and critical for Sophia. We would like a chest X-ray done tonight to see if her lungs have collapsed and how much milk is in them. I hope Sophia does pull through this but like I say, I'm not here to lie and it could go either way. I'm so sorry this has happened.'
Utterly heartbroken, I can remember those words like they were an hour ago. I often just sit and reply them over and over in my head. But in that moment that wasn't what I needed to do, we needed to be strong.. And brave just like I new she would be. Eventually at 1:30am we were took to PICU where we got to see our girl. She was lying there so peaceful, she was on 100% oxygen and was completely relying on the life support machine to breathe for her. I felt helpless and heartbroken. It was so hard to believe that hours before this she was laughing and smiling thinking 'brain surgery? Pfffft'.
The next few days all roll into 1, slowly but surely Sophia began to get stronger and stronger. She had physio three times a day to suction the milk from her lungs and to help her get some of the milk up by coughing. Sophia managed amazingly coming off life support, still very unwell but slow steps of progress was all we needed from her & that she was doing!
Over the next week it felt like 2 steps forward one step back. Sophia was starting to get back to herself but she was clinging on to the oxygen, really relying on it a lot. She wasn't able to drink her bottles so back on the NG tube. She had lost all head control and we were back to where we were when she was first born. She was restless and irritated and just wanted to be home. Sophia was sent for an MRI scan so that her neurosurgeon Mr Ross could see if his surgery had been successful to reduce the size of the fluid filled cyst. We got the best news ever! He was happy with her shunt. He decided because Sophia is so complex and she literally can change rapidly he would like an MRI done every 3 months. We are due for her to have another one soon. 3 days before Christmas we managed to get home. THE BEST FEELING EVER. We were coming home for Christmas ❤️
Christmas was lovely, quiet but lovely. Sophia still wasn't herself she was very sleepy and her shunt was large. We ended up back in hospital on Boxing Day to see her neuro team to get the shunt checked out. He explained to us that this is just what would happen, they had drilled than many holes through Sophia's skull it's now like she has a second soft spot on the side of her head where her shunt is, we just have to keep a close eye on things.
Right now as it stands Sophia is doing pretty well, she's began her physio and OT sessions. She's back being tube fed but is much more content, and she's having some food when she fancies. She has good days and bad but right now i can say more good than bad. She has a few more big meetings and appointments coming up and of course her MRI scan.
Sophia's sensory needs are what is taken control over her so much, she is shaking her head and pushing her head backwards because of her severe vestibular sensory processing needs. When she's having a bad day and struggling her lights bring her back to where she needs to be. she struggles to be in busy loud places and can't bare change. Her OT's are working her hard with a program to help her with these.
We recently seen Sophia's genetics Doctor; as it stands right now they still haven't managed to find out which gene 'went wrong' in Sophia and therefore cannot give her a genetic diagnosis. They've tested Sophia for all of the typical genetic disorders which they link with holoprosencephaly and she tested negative for all of these.. So now it's time to dig a little deeper and look at much rarer genetic conditions. Her doctor is putting Sophia's case forward to other genetic doctors to see if she will be eligible for a certain kind of genetic testing which will test every single gene and tell them exactly which gene has been affected and caused all of our baby's specialities. When I was pregnant they told me to think of Sophia's body as a book, they would check the pages in her book - they've all tested negative.. They've checked the chapters - negative.. How many words on each page - negative!! so now it's time to get down to the nitty gritty and test every single spelling in each word throughout the whole book to find this spelling mistake. We asked yesterday if when they find the condition if it would be rare - the doctor replied 'everything about this little girl is special and rare'.
Sophia got to over 6 month old. Now to everyone else that's just half a year, it's no big deal. But to us that is EVERYTHING.
3% OF CHILDREN WITH HOLOPROSENCEPHALY SURVIVE UNTIL BIRTH. A TINY 1%!!!!!!! OF CHILDREN SURVIVE UNTIL THEY ARE 6 MONTH OLD. we are in that 1%. Our baby girl is a true miracle ❤️
From the bottom our heart we would like to say thank you, too every single person who sends well wishes, love and support to myself, lee and our special girl.
You may not believe it but when your world is fallen apart not knowing if your going to loose your child - those kinds words give us the strength to put a smile and brave face on for Sophia.
Every penny that has been raised for Sophia is treasured, we have her sensory corner unit ordered which will hopefully be arriving next week.
We are hoping to get her special monitors soon she is able to go into her own room but they are out of stock right now. She has a large sensory mirror which she adores to watch her lights in.
I can hand on my heart say that Sophia loves being on this earth, and we will do everything we possibly can to keep it that way xxx
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Megan Killington
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