Nick -Dup15q Family Story

My Super Tough Amazing Nick. Amazes me each day on how strong his will power is.

Nick has Dup15q-idic15, Lennox Gaustaut syndrome (seizures), global delay, autistic tendencies to name a few things he deals with on daily basis. He was diagnosed at 1 with infantile spasm, along with the Dup15q Syndrome.

He was doing well after we got the seizures under control at age 3-4. But age 7 it started going downhill with the seizures and the regression.
Then on top of that, is the fight you have to go through with the school district to get what he needs on a daily basis. 

So at age 9 he choked on a hot dog a day before Christmas and ended up in CHOP in ICU. That day we came VERY close on losing him. But as my Nick has a strong will power, he fought back! After that the seizures came back again to the point that he wasn’t having any quality of life. We decided to do the Corpus Callosotomy -brain surgery to help stop the seizures. It worked

For the most part… seizures returned but nothing like it was. Nick loves music, loves to ride his bike, to be outside in open fields, be in a very warm pool! Every day is a challenge… every minute can be a challenge.  But Nick gives unconditional love… when he smiles the worlds stops, when he laughs it’s even better.

Never doubt a dup kid … always believe in them they understand more than you will ever know! You will be lucky to know one!!!

Nicks 2020 update:

In 2016 Nick had a Corpus Callosum done (full cut) to help with the seizures. Unfortunately, it stopped one of them. They soon returned and still until this day has them. People ask do I regret the surgery or happy we did it? To tell you the truth, I feel 50/50 on both. He was not in a good place then.

 

Speed up 4 years later……… Which I can’t believe…….the Ovid study came along, so we tried that! We go to New York for the trial figuring it was closer and easier to get to and that would mean less time I would need to take off from work. We had to do another chromosome test and found out nick has 6 copies not 4 like the typical dup kid would have. This now makes sense to me! I have always said nick is “just different-he’s a dup, but different.” This also explains why they are having a hard time controlling the seizures. I believe his like 1 in 4 kids that have it, but I am not totally sure.

 

Today he is still having too many seizures. I am still on the mission on finding a drug a balance and whatever he needs to get them to stop. Yes, we have tried mostly everything including diets, cbd, thc, etc. You name it and we basically tried it. But I do believe there something out there to help him and I will not stop fighting until I find it.

 

Then the pandemic hit and on March 16, 2020 when schools closed, Nick ended up in the hospital with a severe allergic reaction to cashew butter. Not where I wanted to be! Now he must have an EpiPen and Benadryl wherever we go. The pandemic has taken a toll on all of us. It has not been easy. My own mental state took a hit. But now that it is summer, being out in the sun or in the pool has helped, but it is still not enough for Nick. It has been challenging to find things for him to do. He won’t wear a mask and I will not take him out to the stores. We do have many parks or different hide away places he can walk. His walking is still weak, but I am not giving up on that either! He is being a teen in many ways. He still loves his music, loves to ride in dad’s truck, being read to, playing with him, going places and he loves to go to Diane’s Farm! Thankfully, she is no