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Benjamin's MPS1 Journey

$44,214 of $45,000 goal

Raised by 543 people in 10 months
Created July 16, 2017
On June 19, 2017  my nephew, Benjamin, was diagnosed with MPS I, a rare genetic disorder previously known as Hurlers Disease. Mucopolysaccharidosis I (MPS I) affects many body systems and that leads to organ damage. It is caused by a mutation in the gene that makes an enzyme called alpha-L-iduronidase.  Because of this defect, cells either produce the enzyme in low amounts or cannot produce it at all. The enzyme is needed to break down substances called “glycosaminoglycans” (GAGs), which are by-products of chemical reactions in the body’s cells. If GAGs are not broken down, they build up in the cell, eventually leading to cell, tissue, and organ damage . There are many symptoms that drastically affect Benji's daily life due to his diagnosis. His family has looked into all resources to give him the most productive and fulfilling life. 

Benji has been to many specialists and doctors since his diagnosis and starting July 12, 2017 began receiving weekly Enzyme Replacement Threapy (ERT) at the hospital. He has been through blood tests, sleep studies, and numerous specialty exams.  The next steps of his journey include: moving to The Children's Hospital of Philadelphia (CHOP), receiving two weeks of chemothreapy, a bone marrow transplant and spending up to 5 months in the Philadelphia area. After he is cleared to move back home from CHOP,  he can start outpatient ERT treatment weekly at Hackensack Hospital. He is already taking part in early intervention and will receive all therapies needed to help him function at his highest achievable level. 

His parents, Jason and Tamara will be relocating to Philadelphia for as long as Benji needs to be at CHOP. They will take turns taking paid and unpaid leave time from their jobs as well as receiving any support they can from our family. Unfortunately, the bills are quickly adding up. These expenses include: transportation to and from Philly weekly, co-pays for specialists, hospital visits and primary care doctors, medical bills,  long term lodging, food and also making sure their youngest son, Tyler, is taken care of. 

Any support from family and friends is greatly appreciated. The goal above is an estimated calculation of all expenses predictable over the next year period.  Jason and Tamara made it very clear that if any money donated was not used during this 1 year journey for Benji, all funds would be donated to The MPS Society. 

For more information on MPS I, please click on the web address below: 
http://mpssociety.org/mps/mps-i/
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Great news! After 9 months, Benji no longer has tubes hanging off of him. He has been de-accessed and will no longer receive medications daily through his port.

We are very thankful for this milestone!
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Hi Everyone!

Im trying to keep everyone updated at least every other month as this is the most central place to update everyone at once!

Benji is doing well. Minor issues arise at times, but overall he is doing extremely well. He certainly takes being 2 very seriously and has an opinion about everything. He continues to see his doctors in Philly every other week and gets therapeutic disciplines at home.

He loves to help around the house by feeding his pup, helping clean, and putting away his toys. He has become so accustomed to taking his oral medications, he now is able to administer them with only a little help from his family. His dexterity is improving and he is learning new ways to verbalize and is using more signs than before.
Thank you all for keeping Benji in your thoughts and prayers.

-Be Brave Little One-
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Today is National Rare Disease Day. Benji is part of this special group of boys, girls, men and women who have a little bit different journey in life.

1 in 500,000 newborns are diagnosed with Hurler’s Syndrome or MPS I. Benji happens to be one of the “1 in 500,000”. Many people do not know about rare diseases and I invite you to take the time to do some research about some of the 7,000 rare diseases known in our world today.

Benji is doing well, but still has complications at times. He is not absorbing certain medications which is being monitored by doctors regularly. He continues to go to Philadelphia every other week, has home care weekly and sees therapists at home for multiple sessions a week. He is a strong and brave little boy and always ends up smiling at the end of the day. The road isn’t easy, but he makes it a fun journey and thats all we can ask for!

-Be Brave Little One-
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Today is Benji’s 2nd Birthday!

I wanted to share an update with you all as its been a while. Benji remains at home and is doing very well. He continues to go to Philadelphia for certain treatments weekly/bi-weekly and gets different modalities of therapy at home. The doctors are continuing to decrease some of his medications as able which is absolutely fantastic. He is acting just like a two year old, learning a lot, using sign language to communicate and becoming a picky eater. He continues to smile most of his day, scream with joy and light up a room with his laugh.

He is 174 days post transplant today and we are happy he is doing so well.


-Be Brave Little One-
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$44,214 of $45,000 goal

Raised by 543 people in 10 months
Created July 16, 2017
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