It's Been Forever!!!

So sorry I haven't posted anything in the past couple of month my computer has not been working. Many of you have been asking how Tylor is so I will try to update as well as I can.

Tylor is now NPC 60!!! He was officially the 60th kid with NPC to be seen and samples taken from for research at NIH.

Tylor's trip to NIH went very well. He traveled on the plane better than I thought he would. Jill brought here iPod Shuffle and Tylor really liked listening to them while he was people watching in the airport. Tylor only had to stay in the hospital for one night but we were able to have the room to chill in while waiting for his other appointments through out the week. It was much more relaxing for all of us to have a private place to sit instead of a waiting room. And we did a lot of waiting but hey it's not like we had anything else to do. We decided not to leave the NIH campus because going through security is as bad as the airport. But we found plenty for Tylor to do while we were there. He got to meet the Children's Inn service dog (and for the life of my I can't remember her name), went to the arts and crafts room, watched a movie on the big screen and ate popcorn, and there was even a Christmas party for all the pediatric patients. Tylor got to see Santa and make a gingerbread man there. They also had a huge display of gingerbread houses made by different departments at NIH. Tylor really liked looking at all of them...they were all amazing!! We got plenty of ideas for our gingerbread house next year.....

Well now onto the boring but important stuff. Tylor did very well with the sedation this time around. He was not sick after and was able to eat and drink just a few hours after he got out of recovery. They did find some atrophy in the brain, which is common with NPC as well as some high frequency hearing loss. He was such a trooper when he had his hearing test. The test was over two hours long and they still didn't get everything they wanted but Tylor had enough at that point. The morning after his sedation we had an appointment with the speech therapist but before we left for the hospital Tylor had 16 seizures and we pretty wiped out. The speech therapist tried to do some things with him but asked if we could come back the next day to see if she could get a better assessment of him. He did much better the next day and she commented on how much his truly understands. She was actually very surprised and happy about this. She was happy to hear that he has a Dynzvox to help with communication. Our last appointment was with the Peds neurologist. We talked about the medication his is on and a little bit of his health history. She then did some eye movement exercises with him, checked his reflexes and told us that she thought he was doing pretty good considering he had NPC.

After all the tests were completed we had a follow up meeting with Dr. Porter and Nicole. We went into great detail about Tylor's health history, the years of meeting with doctors while trying to get a diagnosis, previous tests he has had done and how things are going now. They gave us a patient copy of all the tests performed there. They still had some questions about past health history that I couldn't answer so I sent them the information when we got home to make sure his file is complete as possible.

He will have a follow up appointment in a year...

Before we left for NIH we did some holiday baking. Well not really baking because I can't and Tylor doesn't like to eat hard cookies. Jill, Liv, Kate, and Janelle came over to make chocolate dipped marshmallows and a gingerbread house. The girls really enjoyed helping their big brother! Thanks girls you are best sisters!!

The holiday was very nice this year....we were really busy but it was full of spending time with family and making great memories. Tylor got to spend both Christmas Eve and Christmas with both my family and his family. It was very nice that it worked out so well and that way both families get as much time possible with him.

January 16th Ty had his 6 month check up at Mayo. Just like the appointment at NIH, things went very well. Some change is meds but other than that they told us to keep doing what we are doing!! Again Dr. Patterson is amazed with how well his is doing!!! This makes me feel so good. There is not one day that I forget Ty had NPC but to hear his doctor talk about how well he is doing it puts some of the sad thoughts in the back of my mind.

Tylor also had his Special Olympics Basketball tournament last weekend. He was so alert and having a blast. He made a couple of good passing to different teammates who then scored. He was excited to see Ryan, Jill, Liv, Kate, Will, Drew, Rachael and her daughter, Teri and Touy came down to watch. His team took 2nd PLACE!!!

Well I think that is pretty much it!!! I am sure I will remember something else so you may see more posts with updates over the last couple of months.

Pictures will be added later.

Another NIH Update

Tylor had a bit of a rough morning. He had 14 seizures this morning because his appointments so the swallow study was a little hard as well as the speech appointment. So we will be going back tomorrow to redo those and see a neurologist. We also had our wrap up meeting with Dr. Porter and Nicole which went well. We will have to come back in a year for a follow up. Please pray that the seizure calm down so we can have a good trip home!

NIH Update

My computer has been down so I haven't really been able to keep everyone up on what is going on with Tylor.

Here is a little update about what has been going on at the NIH.


Tylor is fast asleep with Jill at the hospital...only one of could stay so we filpped a coin....Jill won so that means a night out on the town for me! Just kidding the NIH campus is locked down tighter that Fort Knox!! The security is crazy to get on campus. It's like the airport. But anyway Tylor is great today. He had a two hour hearing test which he was very good and then medical history with Dr. Porter and Nicole for a few hours. Tomorrow....Spinal tap, MRI, skin biopsy, and more hearing tests. They want to do more hearing because Tylor is losing some of his high frequency hearing which is normal for NPC. That's all for now...will update tomorrow.

NPC claims the life of a special boy

In Loving Memory of Gavin Lopez

Gavin, Johnathan, Dillion, and Tylor

I had the opportunity to meet Gavin and his family in Virginia at the Niemann Pick family conference. They are a wonderful family and Gavin was such a sweet little boy. I only wish I got to spend more time with this family. On October 30th Gavin lost his fight with NPC. Here are video clips from the Doctors taken just a few months ago.

Gavin and His Mothers Heartbreaking Story

How NPC affects the body

Exciting News

Members of the NPC team....THANK YOU!

Dear families and friends of the NPC community,

There has been a large, collaborative effort to initiate a cyclodextrin clinical trial at the National Institutes of Health (NIH) to systematically evaluate the safety and efficacy of cyclodextrin therapy for the treatment of Niemann-Pick type C (NPC) disease. As many of you are aware, we met with the Food and Drug Administration (FDA) this past Tuesday, November 1, 2011, to discuss the development program for cyclodextrin

The exceptional work that has been done in NPC animal models has guided the design of a human clinical trial. Together with the Therapeutics for Rare and Neglected Diseases (TRND) group at the NIH, as well as several NPC researchers, Johnson & Johnson, and consultants from RRD International, LLC, we are working to submit an Investigational New Drug (IND) application to FDA.

The first step in submitting the IND application to FDA (the perquisite to an initial clinical trial in patients) was to request a pre-IND meeting with FDA to receive the Agency’s feedback on our development program before the IND application is officially submitted. On November 1 we met with the FDA review division staff to discuss the proposed development plan for cyclodextrin and needs for the IND application package. The meeting was positive and the Agency provided helpful feedback focusing on the drug safety and toxicology data. We will have an additional meeting with FDA to focus on the clinical trial design, and FDA is working with us to get that meeting scheduled before the end of the year.

We view this as a very positive step toward pursuing cyclodextrin as a potential treatment for NPC disease. We are planning a scientifically rigorous trial that will allow us to test cyclodextrin in our patients safely and in a way that will provide as much information as possible. While specific details of the trial will not be available until we have agreement from FDA and approval from the NIH ethics review board, we will share information with the NPC community as it is available.

We continue to work toward our goal of starting the trial next year and feel that with the recent FDA feedback, we are on track to do so.

Thank you for your continued support and encouragement as we work together to find a treatment for NPC disease. This fight would not be possible without all of you.

Sincerely,

The TRND Team

Where did the time go?

Hello Everyone,

I haven't posted an update on Tylor in a while and I finally found some time to get on the computer to do it. Well it has been busy around here for starters I started a new job at Edwards Cast Stone Company as a part time Drafter so we have been trying to get things down around the house. Tylor had his Special Olympics Bowling tournament a few weeks ago, he got third place. His first game he got three strikes in a row....and there were no bumpers up! I can't even do that with the bumper up! He starts practicing for his Special Olympics swim meet on Monday at school. Every Monday they get to spend an hour in the pool, lucky guy! School has been going well. He loves to make people laugh and hang with his friends. He has a new friend, Brandon. Brandon is in the Life Skills program with Tylor and he loves to help Tylor. I picked Tylor up the other day for therapy and as I was loading Tylor Brandon yelled wait and he kissed his head! Tylor keeps touching the lives of others where every he goes.  He is also working on using the DynaVox during school to help communicate with the teachers and his classmates. The DynaVox is a communication device that is setup to Tylor's needs.

We also have been working closely with Notre Dame and have been sharing Tylor's medical records, pictures, and videos. They are working on rare and neglected diseases and NPC is at the top of the list! After reading through all the records they will compile all the information into a 2 to 3 page medical summary. They are also working on putting together a website for doctors who are struggling with diagnosing a patient. We have been in touch on a weekly basis and through email. They are almost done with Tylor's summary.

Tylor, Jill, and I will be traveling to NIH December 4th through December 9th. Tylor will be part of a Clinical Investigation. This is not to provide treatment for NPC but rather to evaluate a series of clinical and laboratory tests that might be useful in a subsequent study to determine if an investigational drug is effective in slowing the progression of NPC. Unfortunately for Tylor he will have all prior tests done again. Here are some of the tests that will be done; Blood draws, urine collections, lumbar puncture, MRI, psychological testing, hearing evaluation, skin biopsy, and genetic analysis are some of them. He will be sedated for the MRI, lumbar puncture and the skin biopsy so he won't be in pain. He just gets really sick after sedation. We are looking forward to this trip and hope that some how Tylor's results can help aid in the research effects at NIH. We will be posting update throughout that week.

So as you have read we are busy around this house and it is only to get crazier with the Holidays quickly approaching.

A Blast from the Past

Tylor's old para from Jefferson dropped off some pictures of Tylor and I have to share some of them. He looks so young! It's hard to believe my little boy is now a young man.

This is Joyce, the para who gave us the pictures

Sam, Tylor and Gabby then

Gabby, Tylor and Sam now.