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'My Son Has Sanfilippo Syndrome'

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Jill Wood is raising awareness about her 2-year-old son Jonah's affliction, Sanfilippo syndrome. Here is their story.

momlogic: How and when did you realize something was wrong with Jonah?

Jill Wood: I didn't. I had no idea. We went to his first year wellness visit and we used a new pediatrician. The first thing he said was Jonah's head was big -- off the charts 110 percent. He suggested I get an MRI for him. It took us five months to get an MRI. The results came in a few weeks later, and we were called into our neurologist's office. I just knew something was wrong and got more and more nervous .... She sat down and gave us the results. Based on the shape of his skull, it was a bone deformity and consistent with MPS (Sanfilippo). He also had brain lesions, which could potentially hurt him in the future. She dropped this bomb on us, and I started bawling. I couldn't believe it ... I just couldn't believe it. She was really positive, and my doctors were incredible. They were smart, on the ball and compassionate. 

ml: Upon hearing the diagnosis, what was your initial reaction?

JW: Besides the state of shock and physically sick and wanting to throw up, my initial reaction was to sit on the computer with my husband and look at other kids who were stricken with this. We wanted to know more. I was horrified. We shut the computer and didn't go back to it for weeks. We cried for weeks. We waited to get more test results back, and I wanted to protect Jonah and tell my immediate world (family and friends) about my son. Now I was going to be that mom with the mentally challenged child who had a son in a wheelchair with behavioral issues. I wanted to get my fellow mom friends to support us and have our back. To be compassionate and understand. When you're in high school or elementary school, the kid who is different gets picked on, and I didn't want kids to pick on my son. I wanted to create a strong network of people for my son to grow up with. He could die in the next decade, but I truly believe in my heart I am going to save his life. But the truth is, nobody has survived this disease. A week later, I started researching another foundation started by a mom who was fighting for her son. That day I called our lawyer and started the foundation in Jonah's name.

 

ml: What is Sanfilippo? For those who have never heard of it, are there any symptoms or warning signs parents can look for? 

JW: The features of these kids ... the medical term is called "coarse." They have big heads, prominent foreheads, wide-set eyes, thick eyelids, a broad nose and the eyebrow really stands out. They have broad eyebrows. To me, features are soft and wide. Some kids start to show really thick hair and symptoms by age 3. As they get older, thick hair grows on lips or the back of their neck. It's signs of a storage disorder because the sugar has nowhere to go, so it goes into their hair and makes it thick and coarse. They have constant ear infections, thick mucus and smaller airway passages causing upper-respiratory problems. Then they move into behavioral problems -- aggressive and hyperactivity and sleeping problems. They loose their speech and regress. 

ml: What is the prognosis for Jonah and others who are diagnosed with this rare genetic disorder? 

JW: Death. Jonah has Type C, and it's "death by age 30." The quality of life is that they are wheelchair-bound, noncommunicative by 25 and on feeding tubes. Type A and B vary, but it's more severe. Most kids die in their teens. For Type C, which is rarest, and what Jonah has, I believe it's one in a million who have this. 

ml: What is the mission of the nonprofit organization you're starting, called "Jonah's Just Begun"? 

JW: To ultimately find a cure. This disease is so rare, and nobody has started the ball rolling to get documentation on this. We are trying to get other parents to bring their kids to this doctor at the University of North Carolina to study this disease and get more data on it. The NHS is the foundation to any potential drug trial. 

ml: What is your reaction to all the media attention? 

JW: It's fantastic! This is exactly what I wanted. It's surreal and overwhelming. I am not that good in the public, but I have to suck it up for the sake of my child. I hope to keep spreading the word and bring all these kids together so doctors can see our children. Generally, these kids don't get diagnosed from 6 months to 6 years. 

ml: Are you surprised by the amount of people who have been touched by Jonah's story? And did you ever anticipate getting help and support not just from family and friends, but strangers and even celebrities? 

JW: Yesterday, I finally broke down and told Jonah's music class. I brought in brochures and gave my speech. All the moms were crying -- the 10 women I have been sitting with for the last six weeks. I was touched that they were touched. Sometimes I feel people don't get it, but these women really got it. We all cried together and it made me feel so good that I had so much support. They offered to help me, to babysit; we all exchanged numbers. It's been really helpful. My husband is a cameraman on "Law & Order: Special Victim's Unit." The cast and crew have been very empathetic. Chris Maloney, Richard Belzer and Mariska Hargitay have all been extremely supportive. It's only been two weeks since Jeremy, my husband, has been back to work, and they've offered to do a benefit for us and really support us. 

ml: What do you want other moms to know? 

JW: Don't fall into depression. It's not going to help the situation or help save your child. I focused all my energy into saving my son's life, not watch him die. If a doctor tells you no, go to the next. Don't sit back -- there are a lot of people and doctors who care. It's really good to talk to people and get as much information as you can. Be proactive.


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9 comments so far | Post a comment now
Robynn July 30, 2010, 2:49 AM

Jonah is a beautiful boy and he is blessed to have wonderful,loving, proactive parents like you. Keep fighting for Jonah and the children like him. Your story was both heartbreaking and inspiring.

calimommi July 30, 2010, 9:59 AM

Thank you for sharing. Education and information coupled with inspiration will go a long way. God bless!

Kristi Abel July 30, 2010, 5:58 PM

Great story Jill. This is so important and I am glad you are fighting for our children. My son is 9 years old and he was diangosed with Sanfilippo Syndrome, type C, 2 years ago. Jill has contacted us and we are trying to meet with her specialist so that Evan can be in this trial to find a cure. We live in Texas, so we are a long way, but just by getting the word out, we are reaching families all over who are affected by this horrible disease. Rock on Jill!!!!

Kristi Abel July 30, 2010, 6:04 PM

Great story Jill. Thanks for getting us involved in finding a cure for our children. Jill contacted us recently if info about this MD that wants to start a trial for type C children. My son Evan, was diagnosed 2 years ago with Sanfilippo Syndrome, type C. After months of crying, we decided to enjoy this child everyday we have him. He is a handful, and it is so hard to see his struggles, but we cannot and will not give up the hope. We live in Texas, but it is so good to talk to other parents and have that support. Rock on Jill and thanks for everything you are doing.

Nick July 30, 2010, 11:57 PM

Can people please stop using the terms “wheelchair bound”and “stricken”
not only are they depressing words to use they simply arent true. People who use wheelchairs are most certainly not bound to them and lead perfectly normal and healthy lives.

Lisa Muller August 5, 2010, 10:03 AM

My son has Hunter Syndrome, which is related to Sanfillipo. I think it is great that awareness is being raised about MPS disorders. We need to find a cure for our kids!!!

NNH August 23, 2010, 1:42 PM

Jill - Have you tried chiropractic adjustments for Jonah? The goal is to get your central nervous system to work optimally so you’re 100% disease free. You may want to research this and make up your own mind on this one.

Tina March 9, 2011, 3:03 PM

Don’t know if anyone still checks the comments here, but would love to connect with someone. Just found out today that my 10-year-old son has Sanfilippo, now we have to take him in for a blood test to determine A, B, C or D. Would love to talk to other parents with experience. This feels totally overwhelming. Thanks in advance if anyone notices!

heather April 20, 2011, 3:17 PM

My friend’s daughter also has this disease. She is in Vanderbilt Hospital in Nashville as we speak. She is almost 12 and actually was deceased for 20 min on Monday. Her symptoms have recently been declining and it seems like she is nearing the end. This is a tough disease to deal with, I know. I will be praying for Hailee and your son as well.


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