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Our son Nicholas was recently diagnosed with NGLY1 Deficiency.

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Nicholas has been recently diagnosed with NGLY1 Deficiency.  He is currently one of less than 50 confirmed patients worldwide.  While this diagnosis can be very hard for many children as well as their families we are determined to not let this get us down.

The clinical symptoms of those affected can include developmental delay, hyperkinetic movement disorder, inability to walk or talk, lack of tears, microcephaly, lack of sweat, difficulty swallowing, small feet and hands, seizures, diminished reflexes, liver dysfunction, and sleep disorders.  As you can see the Grace Science Foundation is determined to find a cure for this very rare genetic disorder.  With your help Nicholas as well as many others might have a chance at living a “normal” life.  Like all families struggling with children of this rare disorder, the uncertainty of knowing if your children will ever say ‘I love you mom’ or walk to you and give you a hug weighs heavy on our hearts.  Through this foundation we are all hopeful this will one day be a possibility.  Through our prayers we hope Nicholas will be on the less severe spectrum.  However, the reality is….we are just not sure what his future holds.

Nicholas was born on August 23, 2017 as an emergency C-section weighing 3lb. 15oz.  He spent 3 weeks in the Neonatal Intensive Care Unit (NICU) in the care of the most amazing team at Valley Hospital.  At birth we knew something was different with our sweet boy.  He never developed as he should.  As a mother I tried to see what his symptoms were and tried to compare him to others.  I would be up all night googling random symptoms and then calling his doctors to test him for anything that I found.  Thanks to our amazing geneticist he was able to receive his diagnosis through an exome panel.  Nicholas received his diagnosis on August 1, 2018.  Immediately after this devastating news the decision was made to place a G-tube in him to receive nutrients when he was too tired or unable to eat.  Due to his increased appetite and feeding therapy Nicholas is now able to eat on his own with minimal assistance as well as the removal of the G-tube.

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Nicholas is a child who when you meet him he leaves an impression on your heart.  He has been a fighter since the day he was born while keeping a huge smile on his face.  He continues to grow and develop at his own pace with the help of ongoing physical therapy and occupational therapy, feeding assistance, and visits with many doctors.  Nicholas continues to be a happy toddler who enjoys being around his loved ones and playing with his sister Mia, his cousin Christian, and other friends at daycare.  He is Mr. Popular at his school.  He greats everyone with a kiss.  My heart melts when the parents or teachers all tell him how he is amazing and how they love seeing his smile.  With your help Nicholas can hopefully have the life he was meant to have.  When Nicholas was diagnosed we thought our journey was over, instead it has just begun…

Some of you might have been part of his care team, family or a friend, given a monetary donation, or perhaps said a prayer for our family or even just helped us one day in passing.  No matter what your involvement we are so very grateful and thank you for any support you have given!

Please help us aid the Grace Science Foundation to bring a cure to a clinical trial.  Please note 100% of all proceeds donated go directly to fund the Grace Science Foundation.  In addition, please make your donation in Nicholas’s name so we can personally thank you 🙂

With all of our love and hope,
The Suffy Family

 

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