Our very own Wholesome Mama, Charlotte, is back to discuss her daughter’s diagnosis of lambdoid and sagittal craniosynostosis. Her daughter, Clementine, was diagnosed with multisutural craniosynostosis, which is a medical condition where multiple cranial sutures, which are natural joints between the bones of an infant’s skull, prematurely close. This can result in abnormal skull growth and shape, potentially causing various developmental issues.
As Charlotte and her husband Dane, navigate these waters, they found that there wasn’t much information available so she hopes to raise awareness and wants to provide solace to other mothers who find themselves walking the same path, assuring them that they are not alone!
What early signs and symptoms did Clementine show?
When Clemmie was first born, she had a really prominent posterior fontanelle. It felt pointy and sharp. Sadly, when we pointed this out to the midwives and doctors, it was dismissed as normal. Even as a new mother and father, we knew something was amiss. We had held countless babies of friends and family and never felt that bone so obviously.
We also took Clementine to a cranial osteopath to help get everything comfortable and aligned for her after a long and instrumental delivery, and to help with her digestive system and torticollis. Clementine also had very long periods between opening her bowels and suffered from tummy aches and wind. What I didn’t know is that the cranial nerve is closely linked to the digestive system. So, it could have just been a coincidence but I believe these issues, as well as the difficult delivery (due to head positioning), were connected with Clementine’s craniosyntosis, which most likely formed in the womb.
What is the prognosis of lambdoid & sagittal craniosynostosis and how will this affect her development?
The prognosis for a child with craniosyntosis which is diagnosed and picked up at an early age is actually really great! The treatment usually involves a surgical procedure and then close monitoring, but after the surgery until they are a teenager, a child usually goes onto live a normal and happy life. We are extremely fortunate that Clementine is developing fantastically well. She is bright, very able and laughing and exploring her way through life.
We have regular multidisciplinary meetings at Oxford Hospital with lots of experts, including speech and language therapists, plastic surgeons, neurosurgeons, geneticists, psychologists, orthoptists and a specialist nursing team. This reassures us that Clemmie’s progress and development is being closely monitored
What formal diagnosis did she receive?
Multisutural craniosynostosis of the lambdoid and sagittal.
Lambdoid craniosynostosis is a very rare type of non-syndromic craniosynostosis and occurs when one of the lambdoid sutures at the back of the head fuses before birth.
In sagittal craniosynostosis, all or part of the sagittal suture fuses before birth, leading to the skull being long from front to back but narrow from side to side. Sagittal craniosynostosis is also known as scaphocephaly- from the Greek for boat-shaped.
Clementine is also having a full genetics test, which will take about 9-12 months for the results to see if there is an underlying cause or genetic condition associated with this, as the consultants thought she had a few unusual facial features. That was difficult to hear as we think she’s beautiful, but they wanted to test to be sure. It kind of made me sad to think even at this age, Clemmie is being judged on her appearance as it didn’t conform to the “norm”. Women go through that their whole lives, so to start so young made us both very protective of our daughter, but maybe wrongfully so. Better to be sure and out rule any other issues…
What does treatment look like for multisutural craniosynostosis?
To be honest, it’s so rare that we aren’t entirely sure what this means for Clementine at the moment. At a recent MDT meeting, we were told by the craniofacial consultant that they would like to operate and make room in her skull for her brain to grow. However, at the next meeting, we were told that the neurosurgeon said because of where they would operate and her main blood vessels being in the same area, the risk of blood loss and surgery was too great and outweighed the benefits as she wasn’t currently presenting enough problematic symptoms. They also don’t have 30 case studies to reference to tell them what problems could arise and which type of surgery is best. So this means regular meetings in Oxford with regular eye tests where they look behind her eyes to see if the pressure in her skull has changed. If the pressure changes or any other symptoms such as developmental delays etc arise, then they will operate. It will be less risky as the older she gets, the more robust she will be with such a major surgery.
If surgery goes ahead, it’s likely to be cranial vault remodelling, which involves making an incision along the baby’s scalp, removing the affected bone and then reshape and replace the bone to allow for improved head shape and increased space for the developing brain.
Or, another type of surgery where they make room in the skull by defusing the bone but not reshaping the skull.
It would ultimately come down to what they think would be the best for Clementine, based on her head shape at the time and risks outweighing benefits, etc. Currently, Clemmie’s head shape has changed slightly, but if you didn’t know her diagnosis, you may not realise. It’s only us as her parents, immediate family, and the experts that can probably see that. She is so beautiful, clever and happy that most would never know that anything is going on.
Can children with craniosynostosis live a normal life?
Yes! Most children with craniosyntosis go onto lead normal lives! As long as it’s caught in time and monitored closely to avoid any buildup of pressure in the skull, which can cause developmental delays, brain damage, facial and head shape abnormality and neurological dysfunction.
What advice do you have for parents who have just learned their child has craniosynostosis?
It’s a tough diagnosis to hear as it can involve disfigurement, developmental delays and a major surgery. But be kind to yourselves. I couldn’t help as Clementine’s mother to wonder if it was something that I did wrong during her pregnancy that caused her birth defect such as taking the wrong prenatal supplements or having the occasional small glass of wine on a special occasion. I was even told by one medical professional along the way that her awkward positioning in the womb could have resulted from a dog bite I suffered whilst heavily pregnant and the shock of that startling Clementine. So you really start to over-analyse what could have caused it. Perhaps the genetic results will tell us something.
In today’s society, you often play down your feelings and limit what you tell your loved ones. There’s also often a negative connotation that all parents talk or moan about, is their children, so you feel a bit isolated as you don’t want to be that person. But parenthood is the most wonderful and toughest thing we have ever done. You don’t need to play that down and you can 100% talk about any worries that you have, including medical ones. Genuine friends will be there to support you and help you.
Keep advocating for your baby. Your baby can’t advocate for themselves, so you really need to. Just follow your parental instinct and keep pushing until you feel confident with the answers you are being given, even if they may be uncomfortable ones. It took us A LOT of appointments, a lot of pushing and a lot of repetitive conversations until we finally got through to a great paediatric doctor who started listening and got us the referral to the experts. The care at Oxford has been second to none and we are extremely grateful for that. Trust your gut.
Take some time out as a family. Do some fun things, make special memories and get outside. Anytime I have felt really anxious or stressed, I have felt a gazillion times better after a countryside walk or a picnic in the woods. Slow down and take it easy. It’s a scary period as you don’t know what will happen and what the final diagnosis/outcome will be. We spend a lot of time at hospital appointments, but we try to incorporate something fun into the day too, so it’s not all clinical. That could be as simple as a picnic in a local park close to the hospital, a walk and explore around Oxford or a lunch in a nearby restaurant with a delicious serving of pasta for Clemmie. She loves her food…
It will all work out in the end and we feel very grateful that despite having a major birth defect and potential major surgery in the future, craniosyntosis is a treatable with a good prognosis if caught in time and closely monitored. Some children are born with major defects that can’t be treated or have terminal illnesses, so we feel extremely lucky.
Hopefully, this might raise some awareness about craniosyntosis. We never knew about it and neither did quite a lot of the midwives and doctors that we have spoken to since the diagnosis. The more we all talk about it, the more likely cases will be picked up earlier and complications avoided.
