Brisan and Parker Stults | Living with Niemann-Pick Type C

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Easter was a pretty good day. Me and Jennifer went to church because we were apart of the 11 am service. The message was on Hope. At the beginning of the sermon they had put a picture up of us while one of the ladies from the drama team acted out our monologue about our story. She did a wonderful job and it was surreal to be hearing our story. I hope that it was able to make an impact.

The boys were at Gma's & Gpa's house while we attended church. Typically we go Saturday evening. We had a good lunch followed by hunting for the wabbit! Below is a video from the Easter Egg hunt we had in their back yard. The boys did a pretty good job “wondering” around! HA I think they had fun.

(In case you can't view this video on your email version: http://www.youtube.com/watch?v=CrhfcmcCEWQ)

Well crime scene intact partially… We were up most of the wee hours of the morning with Brisan the “Flinstone Cat” not wanting to sleep and roaming between our bedroom and his. Around 6 am Parker comes up to my side of the bed and not thinking much of it Jennifer goes Parker is bleeding!

Took him in our bedroom and I can not recall the last time he literally had blood from head to toe on his body. All down both legs and arms including his face. The first go around it took about 30-45 minutes to get a clot to stick. During that time Parker turned into Rambo and tried to break loose. Can't blame him but it is frustrating since your trying to get him to calm down so you can apply pressure to his nose.

We put him in our bed and I proceeded to get ready for work. As soon as I was going to leave he blew a big sneeze. Must have been as powerful as the winds in Kansas City this morning! The 2nd gold rush started (minus the gold). That was talking another 30 minutes to try to stop it. At that point we just called the ambulance to head down to Children's Mercy Hospital. There they gave him DDVAP and checked out his hemoglobin. It was low. He is doing OK now after a long morning and early afternoon.

There has to be a way to help this out some way.

Just a quick update on Mr. Parker! We were able to come home Thursday evening. The doctors felt comfortable because he wasn't bleeding which was a main concern before surgery. Parker is very sore and  uncomfortable. It took him about a day to realize that he just can't get up and run around like before because his tummy hurts.

The last few nights have been rough because he wanted to toss and turn but he couldn't. We found a solution yesterday mid morning. Thanks to papa, he has bought the boys each a recliner of their own over the last few years. Now which one belongs to who is hard to decide at this point but it came in very handy!  Parker enjoyed just sitting their with the bottom leg support propped up while he watched his cartoons! Pretty cute! He just needed a remote!

Here is what his tummy looks like with the G-Tube and port-a-cath. Underneath his right breast you see a bump. That is where the port-a-cath location is where they can give injections or take blood. We won't access the port probably for 3-4 weeks. Up by his neck that is where the part of the catheter is located. The below picture gives you a better idea how it looks inside of him. The biggest risk with this is infection. As Jennifer stated a few days ago it was a hard decision to make but we feel it is the right one if they are going to be getting infusions every week. They already are nervous when they do the infusions already. It really is the sticking point of the process that gets them. Heck I'm an adult and I hate that feeling.

Brisan and Duncan are doing good. They are at gma's and papa's house. We're set to pick them up today. Can't wait to see them but this will be interesting since Parker can't really move around right now. Duncan probably will want to come jump on his belly! Brisan will get his port-a-cath on April 7th.

We thank you all for your prayers! It truly is each one of you that lifts us up to the Lord that we're able to get through challenging times.

How many times have you been looking for something at your house but you accidentally find something you previously were missing? Wouldn’t it be a shame if the prize you were seeking was within reach but you discounted that it could be that easy? What if understanding Niemann-Pick Type C disease opened up the door to help millions of Americans with other disorders involving cholesterol? Of course nothing in life is easy nor will it always be within reach. With being human comes the tendency to make oversights.

It has been almost 13 years in July 2010 that the NPC1 gene, on Chromosome 18 for Niemann-Pick Type C was shared with the world on its discovery. This was a huge step and monumental discovery with associating cholesterol with a certain gene/chromosome at that time. To arrive at this point, it took decades of work which shed an abundant light into how a cell metabolizes cholesterol. In short, Niemann-Pick Type C causes progressive deterioration of the nervous system by blocking the movement of cholesterol within cells.

From a press release dated July 10, 1997 from Bethesda, MD:

“This discovery is an excellent example of how research on rare brain disorders often pays off in other ways,” says Zach W. Hall, Ph.D., Director of the National Institute of Neurological Disorders and Stroke (NINDS). “By identifying this gene, we not only take a crucial step forward in understanding this devastating disorder, but also gain insights into problems that affect every one of us.”

In 2001, cardiovascular disease was responsible for more than 39 percent of all deaths in the United States (American Heart Association: Heart Disease and Stroke Statistics 2004). Atherosclerosis is a disease where plaque builds up in your arteries. We all know those aren’t important to our lively hood at all. OK, just joking but plaque is made up of fat, calcium, cholesterol, and other substances found in our blood that over time builds up but hardens in the passage ways of our arteries. Imagine if you’re driving through a two way tunnel but one side is now closed off?  It would be kind of hard to get through to the other side in a timely and relaxing manor with additional objects in your way? Just like that situation, this affects how we get our blood to important areas in our bodies. With millions of people dying each year, this is a huge number of people. What if Niemann-Pick Type C could provide some insight?

Other diseases such as Adult onset Alzheimer’s, Stroke, Cystic Fibrosis, Duchenne Muscular Dystrophy, and even HIV-Aids will benefit from the research into Niemann-Pick Type C. Did you know that children can experience dementia to? Crazy to imagine because most of us think that only our elderly family members get that! With the combination of deaths due to these diseases, could you imagine if we had a more collaborative research environment? Unfortunately big companies aren’t going to sacrifice revenue opportunities to help a blip on the radar screen but they will invest if they see it helping thousands of people; this means a return on their investment. This reality is sad but true.

Rare diseases OUR important to you, me, and everyone we know. Each of us has a Chromosome 18 that is vital to us being a living human being.  I encourage you to help out in some way. That could be donating to several charities that fund research for NPC like the National Niemann Pick Disease Foundation, Ara Parseghian Medical Research Foundation, Hide and Seek Foundation or the Niemann-Pick Children's Fund. That could be becoming and advocate in lobbying our government for better health care. It could be you just passing the word and spreading awareness.

We all are in this together and have been affected in some way by one of the diseases mentioned in this post. One person can make a difference in the world and that person could be you.

Additional Resources:

• http://www.lef.org/protocols/heart_circulatory/coronary_artery_disease_atherosclerosis_01.htm
• http://www.ninds.nih.gov/news_and_events/news_articles/pressrelease_fatal_childhood_niemannpicktypec_071097.htm
• http://www.strokecenter.org/patients/stats.htm
• http://www.ninds.nih.gov/news_and_events/news_articles/pressrelease_fatal_childhood_niemannpicktypec_071097.htm
• http://www.cdc.gov/nchs/FASTATS/deaths.htm

*All pictures belong to their respective parties.

A day late and a dollar short… maybe. No approval from the FDA took place this week. In other countries like the European Union, South Korea, Brazil, Russia, Australia and Canada, Zavesca has been approved for use in adult and pediatric patients suffering from this fatal disease called Niemann-Pick Type C.

Our understanding of the news that broke out a few days ago was that they want more testing done from pre-clinical and clinical studies to develop additional information.

Jean-Paul Clozel, M.D. and Chief Executive Officer of Actelion commented: “We remain committed to bringing an approved treatment to patients suffering from NP-C disease and in this spirit we will continue the dialogue with the FDA.”

It appears that Actelion is committed to finding the additional information needed to show the FDA that this could be one of the first FDA approved treatments for Niemann-Pick Type C.  Although this doesn't mean they will be cured, it could give someone like Brisan and Parker a few “extra” days living with NPC. As parents affected by this disease we are thankful that we currently have the opportunity to be apart of it even though Brisan and Parker aren't taking it. They will resume sometime in May this year.

That presents a different challenge for our family because we currently are on COBRA. It will be interesting what 12 months from now will look like especially if it isn't FDA approved because our future insurer might say H-E-double hockey sticks NO!

Here is a link to one of many articles: 

• Actelion receives FDA complete response letter for Zavesca (miglustat) for the treatment of Niemann-Pick type C disease

• FDA Does Not Approve Actelion’s Zavesca in US

• Actelion receives FDA complete response letter for Zavesca

Ding ding, round 2! Brisan and Parker started this week the 2 phrase of the N-Acetyl Cysteine (NAC) Drug Trial at the NIH. For the first week they have to ramp up on the drug again. Parker is at 9.5 ml x3 and Brisan is at 10ml x3. On the first phase it was 36ml x3 for Parker and 40ml x3 for Brisan.

As I posted originally on www.blog.bripardun.com, a diagram that I used from NNPDF's site to show how this crossover study is taking place. You can read more about it here: NAC Drug Trial. Essentially they are looking how they can reduce oxidative stress on the cells. The main issue they can't fix yet but if they can find little things to help the “side effects”, then that is  a very small win overall for NPC. We haven't seen any major changes in how they act. If there is they are very minor that they aren't completely noticeable.

Overall the drug is pretty safe. You can actually purchase it from any pharmacy. It doesn't taste bad either! We view this as an opportunity to help in the research of Niemann-Pick Type C!