5TH ANNUAL RYDE 4 TYLOR

It has been a VERY long time since I have posted anything on this blog...with facebook and all I have kinda let this go but I am going to work really hard to keep this update this site and start posting on here again.  It will be another great way to remember Tylor!!

So we have set the date for the 5th Annual Ryde 4 Tylor...it will be September 6th.  Leaving Knickers in Dubuque.  The rest of the stops are TBD.  We will have Boys Night Out playing again when we get back along with 50/50's during the ryde and we are looking into doing another silent auction this year.

Please help pass the word and we hope to see you all there to help fight this horrible disease that took Tylor away from us too soon!!

Not the Greatest News for the NPC Community

Well today there was a conference called held by the NIH and NNPDF to update the community on the Cyclodextrin trial.  The news was not what I was hoping for.  They had to put the trial on a pause status due to an infection at the ommaya reservoir site in two patients and another (who is not in this trial) suffered from a brain bleed.  The ommaya reservoir is like a port for a chemo patient but it is surgical placed in the front of the brain.  The infection was cause by bacteria that sits on the skin that causes acne.  At this time they are not sure if NPC patients are at a higher risk since this is a lipids disease or not.  But they knew they couldn't continue with the trial with so many problems and not enough answers.

They put in on hold and got in contact with the FDA who in turn put an official hold on the trial and will send the NIH a letter stating what has to be done to get the trial off the hold status.  The FDA was very pleased with the quick action by the team at the NIH for putting the trial on pause right away without first contacted them.  The NIH will receiver the letter sometime next week and will inform the NPC community once they have a plan of action in place.

Dr. Porter did add that they did collect some promising results from the trial thus far.  The bio-markers looked good and they got goo PK data.  These results where from the patients receiving a very small dose of the cyclodextrin.  Dr. Porter thought they would see nothing with this low of a dose, so that in itself is very hopeful!!

They do think that the infection was not drug related but device related.  So he did go on to say that they will be looking at a lumbar injection as means to administer the drug.  They do have concerns with how much of the drug will actually reach the brain but with the data collected from the trial he believes that they will be able to administer enough of the drug to reach the brain without causing toxicity. 

There is a lot of work ahead for the NIH team but they are committed to get this trial back up and running as soon as they can.  They could not give any kind of time line or dose levels at this time.  I will keep everyone posted as information comes to me.  Please say an extra prayer for the NPC community especially those in the trial that suffered an infection and the child who suffered a brain bleed.  Thank you and God Bless!!

A Much Needed Update

Tylor had his yearly check up at Mayo in February.  Dr. Patterson is still very happy with his condition.  His spine is still looking good, his horizontal gaze is getting a bit slower and of course his vertical gaze is very slow like before.  He seems to be having more tremor issues than in the past but nothing to serious right now anyway.  The seizures are still an issue but we are thinking that is do to some changes in his environment.  So I am keeping a close eye on them and we will discuss at a later date if we need to adjust his medication.  He was pretty sleepy during the exam but the doctor was happy with out Ty responded to the test he preformed.

His G-tube was also changed on our visit.  She was very pleased with how good the site looks.  No infection or granulation tissue to report.  He is such a trooper when he gets it changed.  With his growth (now 6'-0") the track is in a upward position so it is a bit uncomfortable to have changed.  In time it may need to be repositioned.  Meaning another surgery.

As far as his diet they are concerned that his weight is still the same as it was a year ago.  So we increased his calorie count.  He takes one can of the old formula and one can of a new formula with more calories twice a day.  We don't want him to get to big for the simple reason that I still have to get him around but we also want to ensue that he is getting the amount of calories and nutrition his growing body needs.

Tylor also had reevaluation for PT, OT, and speech therapy.  They will be working on respiratory therapy, endurance, fine motor, and the Dynavox (his communication device).  I was given stretches to do at home and he needs to ride his bike more. Tonight he did pretty good with the stretches and as always loves riding his bike.

Rare Disease Fight Song

Rally students of Notre Dame, 

Fight rare disease, and sound her fame

Raise her Gold and Blue, 

And cheer with voices true, 

In the fight against rare disease.

Fight rare disease in every game

Strong of heart and true to Notre Dame.

We will ne'er forget her

And we'll cheer her ever,

In the fight against rare disease.

Chorus:

Fight rare disease at Old Notre Dame

Ending their neglect and cheering her name, 

Send the volley cheer on high, 

 Shake all seven thousand down from the sky, 

What though the odds be great or small

Old Notre Dame will win over all, 

While her loyal students march

In the fight against rare disease.

NPC Press Release on the Cyclodextrin Trial

Tylor is happy to announce along with the NIH........Drum Roll Please

Dear Families and Friends,
 

The NNPDF central office received the following press release from the National Institute of Health (NIH) NPC Clinic from Dr. Forbes "Denny" Porter with an update on the Cyclodextrin Trial.

Click Here to see the press release.

NIH Clinic Trial is a GO!!!

UPDATE: FDA Approves NIH TRND Team for NPC Cyclodextrin Clinical Trial!

Posted: 11 Jan 2013 02:42 PM PST

Dear Families and Friends,

The NNPDF central office received the following update from the National Institute of Health (NIH) NPC Clinic from Dr. Forbes "Denny" Porter.

"We were informed today that the FDA has removed the clinical hold on the hydroxypropyl-β-cyclodextrin trial. We are planning to enroll the first patient in two weeks. This trial is a major step in trying to determine if this is a safe and biochemically effective drug for NPC. Our goal is to use data from this trial to optimize the design of a larger second trial focused on clinical efficacy. Thank you for your help and support!
The TRND Team"

To follow updates and breaking news visit the Cyclodextrin page on the NNPDF web site.

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: nichdnpc1@mail.nih.gov
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.

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

  

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.

NASHVILLE

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.

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 face...it 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.