Sanfilippo Syndrome is a recessive autosomal genetic disease. Children with Sanfilippo Syndrome are missing an essential enzyme needed to breakdown and dispose of long sugar chains in the body called mucopolysaccharides. also known as GAGs. Because these sugar chains cannot be broken down and disposed of they accumulate in the cells causing progressive damage. Babies and young children with Sanfilippo Syndrome appear normal, but symptoms begin to appear with age as more and GAGs build up in the cells of the body. There are 3 stages to the disease. Stage 1 the child begins to lag behind peers and begins to display difficult behaviors. Stage 2 the child losing his/her language, becomes hyperactive, chews on everything, and has sleeping difficulties. Stage 3 the child slows down, becomes dependant for all mobility and loses the ability to chew/swallow. There is no treatment or cure for Sanfilippo. Life expectancy varies.
Sanfilippo Syndrome is killing our kids
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says ... on Tuesday, Feb 9 at 4:37 PM
wow thats terrible but my sister has sanflippo shes my big sister shes almost 16 sometimes i wanna break down and cry i love her soo much an i kno she wont b around wen i get in high school i wanna jus sit down an die sometimes but i gotta b strong
says ... on Tuesday, Jul 28 at 6:09 PM
I am a behavior analyst who works with a girl with MPSIII. She is the bright light of my week. Your story is encouraging and will continue to pray for a cure for these precious children. Peace that passes all understanding be with you!
says ... on Sunday, May 10 at 9:27 PM
mpssociety.org and mpsforum.com are great helps with information and support. We know a few families and the range of the impact is great. Most are more impacted but all are blessings. Pray for our Hannah as well, we appreciate it.
says ... on Sunday, May 10 at 9:23 PM
Unfortunately stem cell therapy has not yet been proven to reverse or help MPS IIIA. My heart goes out to you as my daughter, now 12 and also Hannah also has this disorder. Our son, 10, is not affected. Dina's comments are insufferable. God bless.
says ... on Wednesday, Apr 22 at 4:21 PM
Well we decided to go through with the transplant for Aiden, but Tricare denied us so now we are fighting tooth and nail to get this approved.
says ... on Wednesday, Apr 15 at 6:45 AM
My step-brother had this devistating disease. We were blessed to have him for 15 yrs and now he's an angel watching over us! My prayers and heart goes out to your family. I hope they don't have to suffer the way he did years ago.
says ... on Saturday, Apr 11 at 4:24 PM
your video is heartbreakin,my thoughts and prayers are with your family. my daughter jadyn is a special gift from god also,they are truely angels from heaven.i pray that the stem cell treatment is a sucess, dont let people like dina break ur spirits.
says ... on Friday, Apr 10 at 12:54 PM
Your story reminds me of a child we were blessed in knowing who had SFS. He gave his family 12 years of wonderful memories. This is so tough but try to remember to make every day the "best" day. Even if it's just a moment. God bless you!
says ... on Friday, Apr 10 at 9:49 AM
I wish the people who are against stem cell research were all made to watch this devasating story, then just maybe something could be done for these children and their families. Enjoy every hour and minute you have with your babies Penny.
says ... on Friday, Apr 10 at 9:19 AM
I have a daughter named Hanna as well. She will be five this Christmas. My heart goes out to you and your family, and I wish that there was something we could do to help. I will keep you all in my prayers, and hope something can be done for them both
says ... on Friday, Apr 10 at 9:09 AM
Cherish the moments you have. Live life to the fullest, and know God will always be with you and your children. Your video was lovely, has me in tears right now. I will share your story with our church and we will pray for you and your family.
says ... on Thursday, Apr 9 at 1:39 PM
Lynn, I am so sorry to hear about your niece and nephew. Your family is in my thoughts and prayers. Have they been to Duke yet? We just found out that like we thught Hannah is not eligible for the transplant but Aiden is. Just waiting on insurance.
says ... on Monday, Apr 6 at 2:26 PM
So sorry to hear of your children and my thoughts are with you and your family! My niece, who is 4, was diagnosed 4 months ago with type A, and we just found out the devastating news today that her 2 year old brother also has the same diagnosis.
says ... on Sunday, Apr 5 at 12:40 PM
About Pennys comment. I dont think she put her story for people like you to say comments like that you rude person. I dont think it is your business on why she had more kids. THERE BLESSINGS FROM GOD! Thats why HE choose her to have them GOD BLESS U!
says ... on Thursday, Apr 2 at 2:53 PM
Hi Penny, thank you for sharing your story. Our family will keep Hanna and Aiden in our prayers. God is out there keep your faith high.
says ... on Tuesday, Mar 31 at 6:09 AM
this brakes my heart, I can't imagine what it feels like to know the denastating future of your child and not have the power to do anything. My prayers are with your family.
says ... on Sunday, Mar 29 at 10:53 AM
Penny- Do you need anything? I do know that when you see your children's faces you light up with a huge smile and they do the same for you. You are their rock and they are truly lucky to have a mom that hasn't given up on them.
says ... on Friday, Mar 27 at 1:40 PM
Dina- You should be ashamed. How was she to know that another child would come with the same RARE disease. I am sorry for your sould that you feel that way. My prayers are with this family! Enjoy every moment you do have!
says ... on Friday, Mar 27 at 11:21 AM
Thank you all so much for your kind words it means so much to our family. I wanted to let you know that our family will traveling to Duke University, NC for Both Hannah and Aiden to be evaluated this Sun and be returning Sat. I will keep you posted.
says ... on Thursday, Mar 26 at 10:01 PM
I just had to say one more thing, God chose you to bless Hannah and Aiden with the gift of life, no matter the struggle, they have this sacred time with two of the best parents one could ever hope for. Don't give up, Love is the most powerful gift.
says ... on Thursday, Mar 26 at 9:48 PM
How dare DINA, one of your response persons above, ever question you as to why you had another child, those comments are completely out of line. Every child is a gift, and my tears flowed when I watched your movie clip on Hanna and Aiden. MY PRAYERS
says ... on Thursday, Mar 26 at 3:30 PM
my support, love, understanding and of course prayers.I don't even know what else i can say..my heart bleeds for you-no family should go through this...All the way from Ireland, may God Bless your beautiful Family, Ger, Dave, Ethan and Jack.( Galway,
says ... on Thursday, Mar 26 at 3:28 PM
We pray daily for a miracle,it took SIX yrs for a dyx and we went onto have another healthy boy when Ethan was 2- he is now 7. My heart breaks for you Penny, no words can come, my eyes are wet and my heart is broke.I have nothing to offer only
says ... on Thursday, Mar 26 at 3:26 PM
Hello Penny. Firstly let me address the ignorant comment made- my son has MPS2- Hunter Syndrome, it is a life limiting disease, he has alot of problems the same as Hannah,but luckily for us there is a treatment but this is not a life saving treatment
says ... on Thursday, Mar 26 at 12:43 PM
Dina, your comment was SO incredibly rude. You obviously didn't understand the long process this family had to go through in order to get the diagnosis - 5 years. Your words were hurtful and malicious. Penny, the video was lovely. Let's find a cure!!
says ... on Thursday, Mar 26 at 12:23 PM
This is so heartbreaking. I am praying for your precious and beautiful children. I'll plan on following your blog to keep up with your family. Wishing you all the best. SO sorry for th insensitive comment up there. That's the LAST thing you need.
says ... on Thursday, Mar 26 at 10:05 AM
I want to thank those of you that have watched our video and for the thoughts and prayers. Our main purpose is to spread awareness so that maybe in the future famalies don't have to wait so long for a diagnoses.
says ... on Thursday, Mar 26 at 10:02 AM
We did not know that our daughter was sick until she was five years old. We were told by doctors that it was just a developmental delay that she would grow out of. Our second child has no problems at all. I think that was a very insensitive comment.
says ... on Thursday, Mar 26 at 8:55 AM
why would you have more children if you already have a sick child? you should be spending your time with the sick child not having more sickchildren..
says ... on Tuesday, Mar 24 at 8:02 PM
So sorry, I hope he gets a cure with stem cells. Our prayers are with you.
says ... on Tuesday, Mar 24 at 8:21 AM
I just wanted to let you know that I am praying for you, your family and especially your precious babies. God has a perfect plan.
says ... on Monday, Mar 23 at 8:39 AM
I want to start off by saying thank for sharing this story with us. Hannah among others are in my prayers, miracles do happen, and don't let anyone tell you different. God Bless.
says ... on Friday, Mar 20 at 6:03 PM
awe!! i am soo sorry to hear about hannah!! i wish and hope and pray the best for you and your family!! your kids are so precious and adorable!! may God bless you and your family!!
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