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Willows NGLY1 Fight

$7,400 of $10,000 goal

Raised by 71 people in 12 months
Did you know that in Winnipeg Manitoba Canada a 3 year old little girl named Willow Howard was diagnosed with an ultra rare genetic disease NGLY1? There are 56 living patients worldwide with their ages ranging from a few months to 22 years. N-glycanase deficiency, or NGLY1 deficiency, is an extremely rare genetic disorder, is a progressive condition, and no cure is currently available.

People born with NGLY1 Deficiency face a lifetime of debilitating and isolating symptoms.

Funds raised so far have covered costs for flight, hotel, food and vehicle rental to medical conferences out of country.

Going forwards, funds raised will be donated to Grace Science Foundation, an organization working tirelessly and making research breakthroughs in its search for a treatment or cure.

https://youtu.be/48abBLc3R4k

https://youtu.be/VyTSQ8DzBec

WHAT IS NGLY1 DEFICIENCY?

NGLY1 carries the instructions for how proteins get rid of sugar. When people inherit two defective NGLY1 genes from their parents, proteins in their bodies can’t remove excess sugar. And that causes serious problems.

SYMPTOMS:
*NGLY1 patients have difficulty walking, or are unable to. Most children are non-verbal, and their cognitive skills test significantly below average.
* About half of all patients have observable seizures, but many are not recognizable by non-experts. Common seizure types include sudden jerks or startles (myoclonic), drops (atonic) and staring spells (absence). Seizures are generally multi-focal.
*Complex hyperkinetic movement disorder including choreiform, athetoid, dystonic, myoclonic, action tremor, and dysmetric movements. This makes it difficult for NGLY1 patients to walk, sit, feed themselves, and perform other basic tasks.
* Diminished reflexes. Some patients barely respond to reflex tests, while others do not respond at all.
* Overall hypotonia/low tone, as well as tightness/contractures in ankles and wrists.
* Many patients show abnormal findings in a test called auditory brain-stem response or ABR, pointing towards a condition called auditory neuropathy. This means that their ears function normally, but the processing of the sound in the brain is abnormal.
* A lack of tears (alacrima or hypolacrima). Most patients have very dry eyes, resulting in severe eye infections or corneal abrasions if untreated. While some patients have some moisture in their eyes, they all have difficulty producing tears.
* Many patients produce very little sweat, making it difficult for them to regulate their body temperature in warm weather.
* Patients often show a disturbed sleep pattern, especially at a young age. They wake up frequently at night and require a caretaker’s attention.
* Difficulty swallowing/aspiration.
* Liver dysfunction.
*A smaller head (microcephaly).
* Patients often have extraordinarily small feet and hands.
* Many patients suffer from Chronic Constipation



Thank you for taking the time to read about Willow ❤️






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Happy autumn to everyone! We hope you summer was memorable and filled with smiles, love and laughter.
Going forwards, we’ve found Willows medication manageable with our income as she now qualifies for a free diaper program offered through Children’s Disability. Yay!
We still need and appreciate your help though. Funds raised going forwards will be presented to the Grace Science Foundation. They are working tirelessly to find research that will help come up with treatments or ideally a cure. Thank you again for your support and prayers.

Love,

The Howard family
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Some of you may recall from previous updates that we had stopped Willows Lanzoprazole prescription and following that at an eye exam she showed significantly decreased eye moisture. We thought the timing of the prescription ending and the eye change was worth exploring further so we recently started giving her Lanzoprazole again. I’m excited to say her eye exam a few days ago showed increased moisture, back to where it was in January 2018. These findings have made the decision to continue Lanzoprazole easy. We are incredibly relieved to finally leave a check up appointment with news of improvements and remain cautiously optimistic. Thank you again for everyone’s prayers, well wishes and support. It means the world to our family.
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A recent check up revealed that Willows eye moisture has decreased so we have had to significantly increase the amount of times she’s given eye gel treatments. She is not a big fan of being held down and her eyelids forced open, but who can blame her! Despite the challenges she still remains strong and brave.
We’ve recently found a bike seat that works wonderfully for Willow! It allows her to enjoy time outside with the family. We time the bike ride to occur right after the eye gel so that a) her eyes are nice and moist and b) the ride takes her mind off of the irritation of it being administered.

Thank you to everyone who has supported Willows journey, both in the past and presently! Much of this wouldn’t be possible without the support, love and prayers we get from everyone and our family is forever grateful. We will continue to share updates as they come up
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Excuse the mess! We used our income tax return to pull out the carpets and install vinyl plank flooring for Willow. We are SO excited for Willow to practice taking steps in her walker with more ease and space! We also want to thank everyone for their ongoing support. After we returned from the medical conference in San Diego Willow had come down with pneumonia. That’s why I hadn’t been able to actively post updates. We caught it early and she’s healthy and doing well now. Never a dull moment around here!
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$7,400 of $10,000 goal

Raised by 71 people in 12 months
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GW
$50
Garry Woods
4 months ago
KK
$100
Kelly Kintop
4 months ago
$1,000
Anonymous
5 months ago (Offline Donation)
$500
Anonymous
8 months ago (Offline Donation)
$25
Anonymous
10 months ago
$50
Anonymous
11 months ago
SA
$50
Shawn Ambrose
11 months ago
TB
$200
Tracy and Mike Botting
11 months ago (Offline Donation)
A
$100
Anonymous
11 months ago (Offline Donation)
LH
$100
Lois Howard
11 months ago (Offline Donation)
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