Mum whose baby saved her life to make a lifetime of memories before rare on in a million condition kills her
She’s now cancer free and eternally thankful to her little girl, who she maintains is happy despite being very sick, with even a common cold capable of killing her.
The mum is determined to make as many memories as possible with Willow Rae, who learned to say ‘Momma’ four-months-ago against the odds, as some sufferers remain mute.
Katie, a full-time caregiver, said: “Willow was my saving grace, if I wasn’t pregnant I would never have known I was developing cervical cancer.
“I was encouraged to terminate the pregnancy, but Willow saved my life I wasn’t going to value myself over her, so after giving birth I had three inches of my cervix removed.
“When we got Willow’s diagnosis, it was crushing, in an instant our whole world was turned upside down as we prepared for this life limiting diagnosis.
“The best-case scenario is her living to ten years old, the average is between three and five and often less, her diagnosis is less than two in a million – currently there are 72 confirmed cases in the world.
“Among her many problems, she has heart failure, respiratory failure, kidney problems, neurological and developmental issues, severe hip dysplasia and more.
“She’s also very immunocompromised, what kills children with this condition is cardiac arrest, respiratory failure or just the common cold.
“A normal case of the sniffles can mean a hospital visit and a life-support machine for Willow if her lung was to collapse.
“Our main priority is to keep her comfortable and happy, despite all the problems she is facing she is a very happy child.
“Most children with i-cell, learn simple word sentences, but some are non-verbal and only babble, however Willow just learned to say ‘momma’ and ‘yeah’ when she’s excited – she constantly amazes me.
“Now we’re trying to make as many memories with her as we possibly can, as the memories someday will be all we will have left.
“My main focus is taking things one day at a time and I’m thankful for each and every second we get with her, we’re living a life without regrets and not taking things for granted.”
Willows problems were first identified when she would struggle for breath and eventually stopped eating due to food not properly travelling through to her stomach at three-months-old.
Last year, she spent a mere 12 days outside of hospital, while doctors struggled to deal with and diagnose the root cause of her problems.
Katie said: “When she was on a breathing tube and life support at eight months old, doctors told me the last thing they could do is send her for a complete and total DNA genome sequencing.
“The test, which decoded every single fraction of her genetic makeup, typically takes six months but for Willow within two days they had identified i-cell disease.”
The ultra-rare condition, also known as mucolipidosis II – gives sufferers many problems.
Willow’s lungs and respiratory systems are her most compromised area and highest risk after eight bouts of pneumonia, lung collapse and many other respiratory infections puts her at constant risk.
She is also at a constant risk of aspiration pneumonia due to breathing and digestion problems, alongside a growth deficiency that makes her very small.
Katie said: “The most obvious thing it causes is an extremely rare form of dwarfism, which halts all skeletal growth.
“Willow’s slow growth finally stopped at around 18 months of age, caused by I-Cell, she only weighs 17 lbs (1st 3) and is 27 inches in length, making her the size of your average 6-7month old.
“Growth for I-Cell children typically halts around the second year.
“The curvature of her spine is front to back rather than side to side, there are a lot of medical conditions all caused by i-cell, every single segment of her body is affected differently.”
The cause of I-Cell disease is the Lysosomes of the body’s cells being unable to break down certain fatty substances and specific complex carbohydrates due to the misdirection of enzymes that signal the break down process.
For Willow, this means the build up within her cells accumulates to areas of soft tissue, joints, cartilage, and bone structure.
Katie said: “The lysosomes are supposed to be breaking down the bad stuff in her body, but because the enzymes are misdirected and hyperactive the build-up in her tissue is happening all over her body.
“Her gums are the area where you can actively see the build-up happening as they are very thick and rigid causing a constant phase of teething as they continue to grow.
“What you can’t see is the build-up is also happening with in the joints of her hands, wrist, arms, and knees causing stiffness and discomfort as well as enlargement of both her liver and spleen.
Due to breathing and vocalisation difficulties, mum Katie is starting to teach her daughter basic words through sign language.
Although she recently learned to say ‘momma’, the likelihood of her condition means she will only be able to manage simple vocal sentences.
Katie said: “We still focus very much on vocal communication because she has to understand the word she is signing, and the easiest way to do that is speaking it while helping her sign it so she hears the word for her sign.
“So far she’s learned the signal for ‘more’ by tapping her hands together, she has made her own sign to ask for her binky by tapping the corner of her mouth, and is currently working to learn the sign for ‘all done’.’”
Despite her medical problems caused by i-cell, which there is are no cure for, mum Katie says the focus is only keeping her content.
The single-mum admits she’s amazed by her little girl’s courage and determination in spite of her adversities.
Katie said: “There are only two genetic specialists for I-Cell, there is no direct federal funding for I-Cell so funding relies on the families who have been affected, like the Yash Gandhi Foundation.
“Due to lack of funding there has been little research done so there is still no treatment.
“For now, it’s about keeping her alive and comfortable, there’s no plan set out for i-cell kids other than making the most of the time you have with them.
“Despite this, children with i-cell are angels on earth, my little girl puts up with so much and doesn’t bat an eyelid.
“Willow is adorable and a social butterfly, she loves watching people, talking to people and always has a smile ready for anybody.”
To donate towards Willow’s care visit: www.youcaring.com/willowporter-907183
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