December 6, 2012

More on the Cyclodextrin Trial

Below you will find the lastest on the Cyclodextrin Trial at the NIH.  Unfortunately Tylor is not a candidate for this first trial because he is on more than one anti-seizure medication.  We will be following this trial closely and we are hopeful that Tylor will be able to participate in the upcoming trial involving Cyclodextrin.

~ November 28th, 2012 ~

        Cyclodextrin (HP-β-CD) for NPC1 Disease

  ~ Clinical Trial Strategy ~

UPDATE ~ November 28th, 2012 ~ UPDATE
Therapeutics for Rare and Neglected Diseases (TRND)
National Institutes of Health ~ Bethesda, MD 

Dear National Niemann-Pick Disease Foundation Family Members,
The latest release pertaining to the upcoming NIH NPC clinical trial has been made available to the NNPDF. To view the NIH NPC Cyclodextrin Clinical Trial Flyer ~ dated: 11/28/12 ~ click here.
This study titled: 2-hydroxypropyl-B-cyclodextrin (HP-B-CD) in Niemann-Pick Disease, type C1, is in the process of being reviewed by the FDA and the team of researchers and physicians associated with the Therapeutics for Rare and Neglected Disease ~ Niemann-Pick Type C Disease Team (TRND NPC Team) at the NIH are hopeful that they will be able to begin enrolling patients in January of 2013.
The National Niemann-Pick Disease Foundation is pleased that we are able to forward this information along to our family membership. The NIH attached flyer specifies that interested parties should note your interest in possible trial participation by e-mailing a representative at the NIH:
Please note: If you do NOT have access to the internet or an e-mail account please contact the NNPDF Central Offices at the 920-563-0930 and we will assist you in reaching the appropriate contact individual(s) at the NIH for more information.
This is indeed, a very exciting time for all of our NNPDF family community and, more importantly, all of our precious loved ones diagnosed with Niemann-Pick Disease Type C
We WILL Persevere in our Quest for a Cure!
Kind Regards, Nadine M. Hill
Executive Director; National Niemann-Pick Disease Foundation
For a historical timeline on the Cyclodextrin (HP-β-CD) for NPC1 Disease Clinical Strategy ~ outlined by the NNPDF ~ please follow the link above.

What is Blue, Purple and Yellow???

Tylor's eye and cheek!! 

Tylor had a little accident last Thursday.  He had a seizure and fell out of bed, right on the wood floor, face first.  I decided to talk him to the ER to make sure that everything was okay since Tylor can't really communicate if he is in pain or something isn't right. 

They took his vitals and did some blood work to check med levels.  The doctor also order an X-ray to be done.  When he looked at the X-ray and saw no brake but there was fluid present which usually indicates a brake.  So Tylor was then given a CT scan.  Which did indeed show a few fractures to his right cheek bone. Of course there is nothing they can do for this but give some antibiotics to prevent infection and hope that is heals properly.

I am happy to report that the swelling and bruising has gotten much better.  But he doesn't seem himself since the fall. Not sure if it has anything to do with the accident or not but I am watching him closely and hopefully he will start being himself again soon.

November 26, 2012

Cyclodextrin Trial News

Latest Update on Planning for NIH's Clinical Trial of Cyclodextrin

~ November 2012 ~

Cyclodextrin (HP-β-CD) for NPC1 Disease

~ Clinical Strategy ~

Nuria Carrillo, MD
Therapeutics for Rare and Neglected Diseases (TRND)
National Institutes of Health ~ Bethesda, MD 

Please follow this link to view of PowerPoint presentation titled:
Cyclodextrin (HP-β-CD) for NPC1 Disease ~ Clinical Strategy ~
Created and presented by:
Nuria Carrillo, MD; Staff Clinician
Therapeutics for Rare and Neglected Diseases (TRND)
Division of Preclinical Innovation
National Center for Advancing Translational Sciences
National Institutes of Health ~ Bethesda, MD

October 29, 2012

Wow...It's been a long time......

Well where do I start??  It has been a very long time since I have posted a blog for Ty and we have a lot to share.

Tylor has been doing so well.  He is doing great in school.  He has more interactive with his peers this year.  He participates more in class and stays awake more then ever during the day.  He does like to watch the girls at lunch which complicates eating but at least he's enjoying himself...right??  When I put him on the bus and take him off he always has a smile on his face, which makes it much easier to send him to school.

It was a very special Homecoming for Tylor. He was asked by his "girlfriend" Elena and of course I made it happen.  His Uncle Mitch was nice enough to let him borrow some clothes that looked very handsome on him.  He and Elena had a wonderful time with each other and they were both happy to see most of their friends there.  It was so cute to see them holding hands most of the night.

Tylor and Mom at Homecoming.

Elena and Tylor's first picture of the night

What a cute couple!!!

Time to say Goodnight!!

 Ty also celebrated his 16th birthday!!!  We went out to eat at a local Mexican restaurant with some friends.  He loves to eat there.. or it might be that his Mama loves their Margaritas.  But at any rate we had a great time and Ty was full of smile the whole time and loves his Birthday dessert.

 A few more updates Ty is still not going to PT or OT because he is going so well.  His new AFO's are working out great and his strength is awesome!!  We have been very blessed with Ty's condition and how slow it has been progressing.  He is such a happy and loving kid...I couldn't ask for anything more in our situation.

I hope you all enjoy the pictures and I am hoping to post more often now that things have settled down a bit in our lives.

September 9, 2012


Where did the summer go??  Tylor had a fun filled summer but it just went by way too fast.  To end summer vacation we went to Nashville for the National Niemann Pick family conference.  This year marks the 20th anniversary for the foundation so it was an extra special time for all of us involved especially for those who started this wonderful foundation.

It was a great weekend but a little overwhelming.  There was a lot of information about the up coming Cyclodextrin trial at the NIH and some other great research going on in different labs around the country.  They were hoping to get the trial up and going by the end of this year but it looks like it will start in the fall of 2013.  I am not sure if Tylor would be eligible for the trial because they are not completely done talking with the FDA on all the specifics. But I am still up in the air about getting Tylor in the trial so as information emerges I will pass it on and let you all know what we have decided.

Outside of receiving all the great information we were able to spend some time with old friends and met a lot of new families.  I always love getting together with my NPC family because they know what we are going through and they are so supportive.

Here are some pictures

Taking a nap after swimming

Karen Quant introducing the doctors & researches involved with the NPC community

The children that where taken from us too early last year

Ty at the Rain Forest Cafe

Throwing money into the fountain.  All the money was donated to NNPDF

The Moms at Hooters!! Tylor got a shirt signed by all the girls there.

We got to see some ND friends there as well.

We had a western theme this year and the kids loved the cowboy hats

Mom, Ty, and Kim dancing

The Moms are getting down.

July 23, 2012

3 Down and only 1 to go...

It's so hard to believe that camp is coming to a close.  He will go for his last weekend on Friday!  We have met so many amazing people again this year that has made Ty's camp experience unforgettable.  They love him so much out there.  It is hard to leave.  I actually was crying as I drove away on Sunday.  It is so awesome to see him having so much fun and smiling the whole way home.  This place is such a great organization for people with special needs.  It has been a blessing to our family and we have made life long relationships with so many people. 

Here are some pictures that were taken over the few weeks he was there.  There is no denying he had a blast!!

Ty and Cassi

Ty and Kristina

Got a little Cowboy in ya!!

Saddle up partner

A little water time with Cassi

Ty loves blowing bubbles

Dancing with the girls image that!  You hotdog Ty

Check out his cool shades

Look closely at Kristina's says I Love Tylor

Surrounded by girls again

Art and craft time

His bear has to go with him too

Look at that smile

Push American guys. If you haven't heard about them. Check them out...they are doing some great work for special needs camps across America.

July 20, 2012

Let's Ride...


AUGUST 11th 2012



1st Stop - Buenie, IA "Hank's"

2nd Stop - Guttenberg, IA "Damn Bar"

3rd Stop - Petersberg, IA "The Detour"

4th Stop - Farley, IA "Dirty Ernie's"

Last Stop - Dubuque, IA "Knicker's"

There will be 50/50 Drawings through out the day.

Koozies and bracelets for sale

Dinner will be from 6:00 to 7:30 at Knicker's
$3 donation 

Please come out and support the fight against Niemann Pick Type C!!  Cars and trucks also welcome!! Please pass the word and we look forward to a great ride and raising awareness about this horrible disease!!

July 11, 2012

Here's to you Rich

Tylor received a very special package in the mail the other day from his favorite camp counselor last year, Rich.  He sent him chocolate and some strawberry milk shake stuff (which Tylor loved!!).  Along with the goodies was a letter and in it told Tylor to nag me to update his blog.  I know I have been very bad lately about updating his blog...but the summer has just been so busy.  So here goes....

I can honestly tell you that Tylor looks and is better than he has been in a while, not that he was horrible before but WOW he is doing fantastic! It is hard to believe that two of his three weeks of camp are already over.  He has had so much fun, like every year.  He has been fishing, dancing, swimming, flirting with girls, doing arts and crafts and playing games while at camp this year. Last week he won the Biggest Ladies Man award...can you believe that??  He will be off to camp again this Friday till next Friday.  It is so weird not having him home.  At the beginning it is nice to be able to run errands after work and not have to worry about time running short but after two days I want him home but I know this is so good for Ty.  He loves spending time with his camp buddies and everyone out there loves him! I have been sending a camera with him so once I get the pictures I will post them.

On the not so fun side of things for Tylor is he got his new AFO's (ankle braces) on Monday.  Boy was therapy on Tuesday a struggle.  Because of my work schedule I can't take Ty to therapy so his nurse takes him. But she said he had to do a lot of walking. The new AFO's are designed to prevent his toes to drop when he walks, so there is less mobility.  The therapist had to try a couple of different "stops" to see which one works best for him now.  This required a lot of walking with the different levels of stops.  She did decide on a lower stop to give him more mobility but as his toe drop gets worse the level will need to be increased.  Needless to say he was pretty tired after his session. 

After this week of camp he has one more weekend and then the rest of the summer will be filled with family camping, Ryde 4 Tylor (August 11), a trip to Nashville, and maybe some relaxing in between all of that!! Then he starts school on August 21st....which is so crazy to me! I feel like he just got out of school and now he is going to be a Sophomore!! 

I hope all his readers are enjoying their summer as much as we are...Thank you for your love and support!!