Every November 16th…
But in our family everyday is Sanfilippo Awareness Day.
Yes, that’s my grandson, Oliver, who was just diagnosed with this degenerative syndrome. One out of 70,000 babies are born with a change in their DNA that causes a very important enzyme to be made improperly or not at all.
Because Oliver does not have this critical enzyme, his body cannot breakdown and recycle natural cellular waste. His cells become clogged with toxic levels of heparan sulfate.
While every cell in his body is affected by Sanfilippo Syndrome, his brain cells suffer the most. The effects on the brain become apparent between the ages of 2 and 6 and are displayed by speech problems, developmental delays, challenging behaviors, extreme hyperactivity, and poor sleep. Oliver is 4.
Imagine Alzheimer’s, but in children. Our precious little cutie boy will fade away and lose his skills and knowledge, eventually not able to talk, walk, and swallow.
Children with Sanfilippo Syndrome often pass away in their early teenage years.
This is my precious love-love boy.
We just recently received confirmation about this devastating and relentless diagnosis. My daughter-in-law, Jen, sums up the feelings of our family the best. We are gutted! It is so difficult to write about this and wrap my head around how cruel life can be. My son, Brian, needs me to be strong for him, but I am barely holding on some days. My heart is shattered into a million tiny pieces. I ache. It hurts sooooooo bad! I can’t fix this! I don’t want to accept this! But I will and I do. Our family is strong. Our motto is… We got this (even though we don’t want to got this.) The good news is that my love-love gil-gil, Reagan, is NOT missing this enzyme. I have to be strong for her as well and make sure that she is a part of all this.
So… for now I am still a wandering gypsy but I will finally roll into Bexley, Ohio at some point and stop permanently. Luckily we are back in Thousand Palms, California, outside of Palm Springs, where an airport is only 20 minutes away. I plan on becoming a frequent flyer and frequent visitor of Oliver and his family.
You can follow Oliver’s Tomorrow on Facebook.
Learn more about Sanfilippo Syndrome by clicking on this link.
3 thoughts on “Sanfilippo Awareness Day”
You know my heart bleeds for you guys. Daily prayers for all of you, especially Oliver. So glad to hear Reagan does not have the missing enzyme. Jessica says she see’s lots of Hunter patients at Children’s who are also missing an enzyme and now they are able to get this enzyme once a month. She said they have had this enzyme for hunter patients for about 10 years and that they are doing all kinds of clinical trials, I believe she said in France with missing enzymes. Never loose hope cause you never know what is around the corner. Can you please send me Brian’s address. Take care my friend, love you forever and miss you, even when you’re close. Marylee
Dear Dear Lauren,
Thank you for sharing this pain-filled, love-filled tale. I know you all do “got this.” And you are not alone. It is an enormous relief to know that Reagan has the necessary enzyme. Send our love to Oliver and family, and keep a big bunch for yourself. Hang in there. Love, Cheryl
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