When their little girl, Lily, arrived in the early morning of December 13th, 2020, Dan and Alice of Worcestershire, UK had no real reason to worry about her health and certainly no reason to ever consider she would be diagnosed with the rare disease, Sturge-Weber Syndrome.
Aside from the extra growth scans due to Lily’s small size, Alice’s pregnancy was normal.
In fact, at exactly 37 weeks, Lily’s birth seemed rather uneventful as she arrived during a quick delivery – within an hour of arriving at the hospital.
However, upon birth, their 1.8kg tiny tot seemed to have a purple face, which resembled a large port-strain birthmark. As Alice shares with Love What Matters,
Initially the doctors were not sure if the colouring on her face was from birth or if it was a birthmark. Only time would tell if it would fade or not.”
‘Starting to turn blue’
Unfortunately, to Alice and Dan’s surprise, just within a few hours of birth and after a few feedings, Lily began to discharge yellow mucus.
Concerned, Alice’s midwives asked for the doctor.
“It was pure luck that just as the doctor arrived at my hospital bedside, Lily was starting to turn blue and was not breathing,” Alice recalls.
At only 18 hours old, Lily’s difficult journey had just begun.
Their fragile little girl was taken straight to the resuscitation unit. Once stabilised, she was taken to the neonatal unit and placed in an incubator.
Alice and Dan were taken to a nearby private room where they anxiously awaited news from Lily’s doctor and the chance to see their newborn again.
We were taken to the NICU ward where we saw our tiny baby girl, 18 hours old, hooked up to monitors, in an incubator, with an oxygen mask laying beside her for quick accessibility.”
A diagnosis of Sturge-Weber Syndrome
For the next 24 hours, Lily experienced frequent episodes of apnea (moments where she would stop breathing) which came in clusters. She had an MRI and an EEG scan which, in conjunction with the apnea and port wine stain, allowed the doctors to officially diagnose Lily with Sturge-Weber Syndrome.
Developed during pregnancy, Sturge-Weber Syndrome is a rare neurological disorder where the brain’s nerves are not entirely formed.
According to the National Institute of Neurological Disorders and Stroke, Sturge-Weber syndrome is not genetic and is typically “characterised by a port-wine stain birthmark on the forehead and upper eyelid on one side of the face.”
Symptoms of this disorder include seizures that can worsen with age, muscle weakness, developmental delays, glaucoma, and migraines.
In Lily’s case, she experienced apnea (epilepsy) episodes. According to her doctors, the left side of Lily’s brain had been affected.
They expected she would experience weakness on the right side of her body and glaucoma in her left eye, where she had the stain.
“We were both numb for a couple of days after her diagnosis. We kept thinking, ‘Why us? Why our little girl? Was it something I did while pregnant?’ All these questions were running through our heads.”
After nine days in the hospital, Alice and Dan were finally able to go home with their little Lily and introduce Lily to her big sister, Chloe.
Lily’s brave beginning
At two weeks old, Lily had her first ophthalmology appointment at Birmingham Children’s Hospital to officially confirm she had glaucoma.
At just four weeks old, strong little Lily had surgery to drain the cloudy fluid from her left eye to improve her vision and at 12 weeks she had another one.
Lily has regular neurological and ophthalmology appointments to monitor her condition. She also attends physical therapy sessions every four weeks to try to build her strength, especially in her right hand, which she is unable to move.
Lily also takes two types of seizure medications twice a day, a blood thinner to prevent future strokes, and eye drops to keep her eye pressure under control.
She also has to wear a wrist splint on her right hand while she sleeps to help her muscles and avoid tightness.
According to her doctors, she will need brain surgery to disconnect a section of her brain on the left side. It is expected this will render her seizure and medication free. However, as of April 2022, the surgery had been put on hold due to her excellent health.
‘So proud of everything she has accomplished’
Despite all of her hardships from the moment she was born, Lily is the happiest little girl with her own cheeky personality, which shines through in everything she does. Alice shares Lily’s updates through Instagram, posting several photos of her gorgeous little girl’s milestones and everyday adventures. Lily recently underwent laser surgery and took the treatments like an absolute champion.
Her little personality is starting to shine through; we can already see how sassy and determined she is going to be. Although she can’t crawl or walk, she is really quick at rolling. She loves to play with all types of toys.
We are so proud of everything she has accomplished so far and can’t wait to see her go from strength to strength.”
Alice and Dan know we live in a scary world and that “people do not respect or value difference.” However, they hope to instill in her that “it’s what’s inside that counts.”
They understand “there won’t always be positive days, but when confidence blips occur” they will be there to “lift Lily up again, to reassure her that she is loved and that her appearance does not define who she is.”
With such supportive, loving parents, Lily is sure to continue to shine and persevere through any difficulty life may bounce her way.
Alice and Dan want to share this inspiring message with anyone in a similar situation.
If you are a parent reading this article and are going through a similar situation where your child has a rare condition, lean on your support system, whether that be family, friends, doctors, or nurses. They are all there for you. We are so thankful for our family and friends; each and every one of them has helped and we know they always will.”
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