Battling Sanfilippo Syndrome Type A – Reed’s Story


In January of 2011, we learned that our then three and a half year old son Reed has Sanfilippo Syndrome Type A, a rare and fatal neurodegenerative disease. The disease is very rare, affecting about 1 in 70,000 births. To put that in perspective, according to NOAH, you are seven times more likely to be struck be lightening over the course of an 80 year life than be born with the disease.

Sanfilippo is an autosomal recessive disease, which means my wife and I are unwitting carriers. Reed’s genetic defect results in a missing or dysfunctional enzyme which results in accumulated material in the brain, resulting in progressive brain damage. Without treatment the prognosis is bleak. He will lose all his skills: the ability to talk, walk, eat, breath and likely die by age fifteen. That is the bad news. The good news is that there is hope for the future!

A phase I/II enzyme replacement study has been initiated overseas by Shire HGT. We have spent this year participating in a Natural History Study for Sanfilippo Syndrome, where researchers are studying the natural progression of the disease. The natural history study is being performed in preparation for multi-national pivotal study which we hope will begin in 2012!

The road forward is not easy, enzyme replacement for Sanfilippo and many other central nervous system diseases is complicated by the blood-brain-barrier which protects the brain. Because of this barrier, drugs will have to be administered intrathecally – meaning through a port connected to a catheter that goes all the way to his spinal fluid. However, we know and understand the risks and are prepared to do whatever needs to be done.

Over this year I truly learned the lesson that happiness is not having what you want, but wanting what you have. Reed is now four and a half, we spend our evenings watching Dora and Goofy and that is just fine by me. In fact, even if treatment only halts the disease or offers minimal recovery, I would consider myself blessed to watch cartoons with him for the rest of my life. I would be lying if I said that things were rosy.

Serious chronic illness in a child is stressful and results in a lot of sleepless nights for everyone. At the same time, I have met many amazing parents that have dealt with multiple affected children who have somehow kept it together through very tough times. They handle life with grace, humility and a sense of humor that leaves me in awe. The connections that I have made with these families, mostly through the National MPS Society and Facebook, have been so important. I am inspired by their strength and the hope that our best days are yet to come.

You can learn more about us or follow our blog at https://rallyforreed.com
Website for the National MPS Society: https://www.mpssociety.org

Roy Zeighami

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Global Genes Comments

  1. Inhave a little niece who has sanflippo syndrome shes 11 and in the last stages nit knowing what is to come is hard i read abiut the last stages and she is there in and out the hospital treating the neuro storms and uti fevers she no longer has the ability to walk or anything just dont know what else to look forward to threw this i had to vent to someone i just trust god but not knowing is the hardest

  2. My son Dylan had sanfilippo he passed away In May 2016 he was 13 years old the last 3 years of his life was a real struggle for him he had to have a trackiostimy done to help him breathing last week was terrible for him it was so heart breaking to watch him but every thing he went through he always had a big smile on his face

  3. Sorry that was 2016 on May the 7 my son passed away with sanfilippo he was 13 years old

  4. My son Dylan had sanfilippo he passed away In May 2017 he was 13 years old the last 3 years of his life was a real struggle for him he had to have a trackiostimy done to help him breathing last week was terrible for him it was so heart breaking to watch him but every thing he went through he always had a big smile on his face

  5. emilie lopez says:

    hi, i am twelve years old and my teachers daughter has sanfilippo syndrome as well.
    ive been looking into the syndrome and it really makes my heart break for all the children and families who have to deal with this. well one day when i was researching sanfilippo syndrome i found reed’s story and it really hit me so i just wanted to say i am inspired and hope the best for your family
    by the way i live in alvin,texas
    i just wanted to say that i care and reed has the most beautiful smile and seems like a bright kid who will get through this.

  6. I’m sure you have done extensive research, but just incase you haven’t ran across this. Here it is. There currently is a story running on Fox news website. There is a little girl with the same disease. Her parents are currently working with a MD out of Cleveland that has been working on a cure for the past decade. Her studies have indicated a positive response in mice. She currently is offering a clinical trial. The clinical trial is expensive of course, but thought I’d give this info.perhaps it’s something yourself and other parents can work together on.

  7. heather craigen says:

    My heart aches and cheers at the same time for you and yours. I applaud the strength and bravery of the words that you typed. I don’t know what has occurred with your family since the original post, but I hope it is full of peace, love and happiness.

  8. Crystal Coffman says:

    I am so proud and inspired by you and Zezee, Roy! Two amazing and loving parents!!! Reed and Aziza are extremely lucky to have you both! Best wishes for the outcome you are wanting!!! You guys will always be in our thoughts and prayers!!

  9. Mary Quinn says:

    Thanks for sharing this story. My grandson is Quinn Gregory, son of Suzanne and Brad Gregory, who also has Sanfilippo Syndrome. My prayers are with all children affected with this devastating disease.

  10. Roy and family: As a former co-worker and friend of your Mom’s, I am heartened by the news of the research and also saddened by your plight. You guys are in my prayers and I often am reminded of the fragility of life when I see little Reed’s smiling face on your facebook posts. GOD bless you all and I will continue to believe that there will be a way for Reed to have a long and happy life! Either way, you folks are so blessed to have this beautiful little guy!

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