May 16, 2014


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 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!!

May 3, 2013

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!!

March 12, 2013

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.

February 28, 2013

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.

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.

January 26, 2013

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.

January 12, 2013

NIH Clinic Trial is a GO!!!

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.

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.