The story of Lola
My name is Lauren and I live in a town in Hampshire with my partner Chris, my son Kieran and my daughter Lola. I work as a learning support assistant providing care for students with moderate to severe learning disabilities and Chris works in the trade as a plumber.
I have made the decision to write this blog for a couple of reasons. Firstly, it is a way to keep our families and friends up to date about current news with Lolas medical journey and growth/development. Secondly this is my way to process and come to terms with Lolas diagnosis. I also would love for this blog to reach out to other parents who have been through the same experience or similar experiences with their children. These issues range from feeding complications to significant development delay and much more. I shall of course be going into more depth as the blog goes on.
I found out I was pregnant with Lola in June 2020. We were super excited and happy and my son Kieran couldn’t wait to become a big brother. At 17 weeks pregnant we attended a private gender scan and when I found out we were having a little girl my heart skipped a beat and I was ecstatic.
My pregnancy was very smooth sailing up until the 20 weeks scan. It was at this appointment I found out a part of Lolas brain ‘The Cerebellum’ was measuring much smaller than it should be. This then led to lots of scan appointments to keep an eye on the growth of her cerebellum. ( For those who aren’t aware, the cerebellum controls balance for walking, standing and other complex motor functions). When doctors became concerned about the growth of Lolas cerebellum we were given an appointment with a specialist sonographer who then forwarded us to a neurologist. The neurologist we met with was very kind and reassuring. He wasn’t overly concerned about the growth however wanted me to have frequent scans to keep an eye on where the growth was on the scale.
Fast forward to the birth. Lola was born at 39 weeks via a planned c-section due to being breech the entire pregnancy. Lola was born on the 19th February 2021 weighing 8lbs 7oz. She was perfect. Completely perfect. Lola had an ultrasound scan done on her brain when she was born and I was told everything was normal and she was just fine.
I made the decision to bottle feed Lola as this was something I was more comfortable with. The feeding process was by far the most difficult hurdle I have ever faced in my life. From the first feed Lola would only take a tiny amount of milk and would pull away from the bottle as if she was refusing it. I began to dread each feed as no matter what position I would try she would just not latch to the teat and take much milk. I can remember having lots of different nurses and midwifes try to help and even have a go themselves but in the end we just put it down to her being tired from the delivery and a sleepy baby. The thing with Lola was she slept constantly. Now I know babies sleep constantly but Lola would have to be woken to be fed in the hospital otherwise she would just sleep and not feed for hours and hours on end. I remember being in the baby ward with her and having to wake her during the night to feed and thinking to myself ‘ wow how good is my baby, she wants to sleep through the night’.
We stayed in the hospital for a week due to Lola continuously dropping weight. It was a very emotional time for me I was desperate to go home and be a family but I couldn’t understand why this was happening. The doctors came round and couldn’t find anything causing lola to not feed properly so it was a matter of just stick to it and she will pick it up. Every feed I would cry and feel so helpless. She would just not feed. I tried every position , i tried everything to keep her awake and try and get her to feed but nothing worked. Not for me, not for the doctors and not for the midwives.
We were able to take Lola home by the end of the week and was told we would need to come back for a weigh in 2 days later. From the moment we arrived home the anxiety I felt was overwhelming. My life, my time was now a mission to get my little girl feeding and gaining weight to avoid hospital admission and the feeding tube again. ( Lola was put on a feeding tube in hospital to help with dehydration). Lola would still not feed properly she would not wake for a feed but we kept going and going and tried so many different things. Lola kept losing weight. Taking her to the weigh in appointments were heart breaking. I couldn’t understand what I was doing wrong. Lola went from newborn baby clothes when she was born to tiny baby and preemie clothes at one month old. Over the next 6 weeks Lolas weight wasn’t increasing much however it wasn’t dropping either. Something was finally working. I would place Lola In a certain position on my chest and she began taking the feed. I couldn’t believe it. All those tears, all the stress and pressure. We overcame it all. Bearing in mind Lola hates to be held ( Lola from one month old would winge when being held and stop when put down). But this position worked and it meant I could have some cuddles finally. We had many over night stays in the hospital before Lola started feeding properly but nothing was ever picked up. No tongue tie. Nothing. It was a mystery to all.
Coming home FINALLY
Lola became a professional with feeding and started to pile on the weight. She became a lovely chunky baby girl. We couldn’t believe it. To look back and think she had such severe feeding complications was a thing of the past. When Lola accomplished her feeding difficulties life changed so much. We were able to go out and about and not have to worry about a feed and we were finally able to enjoy our time as a family.
Lola was growing lovely but dropping weight
Lola got the hang of feeding.
Lola became poorly in July and was taken to hospital with difficulty breathing. We found out Lola had coronavirus. We were very upset however it was during this hospital admission a doctor started to think Lola was possibly having sezuires. Both me and Chris hadn’t noticed these arm flinches and eyes rolling before until it was pointed out to us in the hospital. They wanted Lola to have and EEG and MRI scan done to see what was going on. This was a very scary time for us all. Lola had her MRI scan done and then we went to have her EEG test done. The EEG didn’t show any sezuires so everyone was very confused. The doctors asked me if Lola was always as calm as she was in the hospital and I explained: Lola never cries, Lola hates to be held, Lola doesn’t wake up in the night and never has done, Lola will not let you know shes hungry. Lola has no muscle tone and cannot hold her head up. The doctors were surprised but didn’t seem concerned. Finally while in hospital we were given Lolas MRI results. Two neurologists and two doctors came in to tell me her diagnosis. They started off by telling me they have found something on the scan however they have not heard of this before so are going to have to do some research. Lola was diagnosed with ‘Pontine Tegmental Cap Dysplasia Syndrome’.
Pontine Tegmental Cap Dysplasia Syndrome is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain. Patients with (PTCD) present with a variety of medical and developmental problems. Not all patients will have the same issues and the severity of symptoms may differ. The following features have been found in studies of patients with PTCD: hearing impairment, feeding and swallowing difficulties that often lead to pneumonia, intellectual disability that ranges from mild to severe, speech and language disorders, hypotonia, ataxia, facial paralysis, reduced vision, and behavioral problems. Individuals with PTCD may also have abnormalities of the heart, gastrointestinal tract, genitourinary system and skeleton.
We were very upset when we found out Lolas diagnosis but also relieved to finally understand and put the pieces of the puzzle together. Lolas diagnosis is very rare. To the point where every doctor we have seen has not heard of PTCD. This diagnosis explained the feeding complications and the fact Lola cannot hold her head up and is very floppy like a newborn baby.
With PTCD there can be some eye complications so Lola was booked in to the eye doctor. I didn’t think to much about this appointment as I was certain Lola had good vision as her eyes always followed me. At this appointment we found out Lola doesn’t blink. Doesn’t blink? How could we not notice she doesn’t blink? We were amazed we didn’t pick up on it but we never thought about it. Crazy I know! We also found out Lola has no feeling in her eyes. I brought it up as I couldn’t understand how Lola could put her fingers in her eyes and not flinch or have an eyelash or hair in her eye and not flinch. The doctor did some tests and it did come back that Lola has no feeling in her eyes. This is called corneal anesthesia. This Is where someone has no sensation in there eyes, the eye does not blink, produce tears, and the internal processes that the eye has for repairing any damage that occurs to eye does not function properly. Lola was given eyedrops to have 6 times a day from now on and an eye gel for night time to help protect her eyes. Lola needs constant watching when it comes to her eyes. Where she cannot feel them she is more than likely to do some intense damage to her eyes as she grows older. For example putting things in her eyes like her fingers or toys. Lola will have lots of regular appointments with eye doctors to keep an eye on this.
She still falls asleep if we attempt tummy time ! 🙂
At 9 months old Lola is still unable to hold her head up and doesn’t have much muscle tone. Lola attends regular physio sessions and we are doing her physio targets daily with her. We are currently trying to get her to roll onto her right side.
Lola has not been able to transition onto food or purees due to poor swallowing and poor head control so she is still on baby milk. We are under speech and language therapy.
We are currently waiting to hear from wheelchair services. Lola cannot sit in a general pram due to her posture and needing more support so we are hoping to finally find her an appropriate pram which will allow her to experience so much more! Lola is such a beautiful, amazing and inspiring little girl and we are so proud to call her our daughter.
We have lots of future appointments booked for Lola at the hospital but for now we are adapting to give Lola the best life regardless of future outcomes.
Lolas new support chair. Although lola hasnt been able to use this for a week or so as she has become more floppy than usual so isn’t able to hold her neck in this position at all currently.
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Thanks for reading our journey so far.