Gavin and His Mother’s Heartbreaking Story

Kristen and Fernando Lopez have 3 children from Little Elm, Texas. Gavin there oldest son has Niemann-Pick Type C disease. Recently they were on the TV show The Doctors talking about their guilt about having a child with Niemann-Pick Type C. This is very normal to have these feelings because we as parents love our children so much that we want to fix them even with a rare disease. The show was focusing around Overcoming Guilt.

Gavin was a healthy baby boy and by the age of 2 he started having issues with his speech, muscle’s going limp, and worrisome changes that had them concerned. For about a year they searched on what may be the reasoning behind it all. Kristin came across The Doctor’s TV show about Addi & Cassi Hempel who also has Niemann-Pick Type C disease. She felt that this was exactly the diagnosis she was seeking. After several tests and the whole process it was confirmed…Niemann-Pick Type C disease. For many this is a death sentence that no parent wants to here. Learn more by clicking here about Niemann-Pick Type C disease.

Here is the intro about the Lopez’s story:

How Niemann-Pick Disease Type C Affects the Body

E.R. physician Dr. Travis Stork explains how Niemann-Pick Type C affects the body.

Words of Hope for Niemann-Pick Type C Patients

Chris Hempel sharing words of hope for all patients and family currently coping with Niemann-Pick Type C.

Related posts:

1. New therapies – Niemann-Pick type C disease
2. Video: What is Niemann-Pick Type C disease? Can you share?
3. Promising Therapies for Niemann-Pick Type C Disease

Karen Quandt is the Board Chair for the NNPDF.org.  A few years back she was completing a study about neurodegenerative disease in family members of patients with Niemann-Pick Type C (NPC). There differently is a relationship between NPC and other diseases. At this given time ,the current discoveries  that scientists  are making to further develop treatments  for NPC are providing critical insights into our understanding relating to a few of the most common diseases that have been shown to be debilitating to life.

Thank you Karen for allowing us to share.

———————————————————————————————————————————

NNPDF COLLABORATIVE STUDY – KAREN QUANDT, RN, MN

Neurodegenerative Disease in Family Members of Patients with Niemann-Pick Type C

Final Progress Report – Lay Summary

Thank you to all the families that participated in my recent research survey. Thanks also go to the National Niemann-Pick Disease Foundation, The Niemann-Pick Disease Group of the United Kingdom and to the Ara Parseghian Medical Research Foundation, all of whom assisted with this survey. Today I closed the survey titled, “Neurodegenerative Disease in Family Members of Patients with Niemann-Pick Type C”.

Here is a summary of the results:

• 57 families answered the survey
• 29 families had a family member with another neurodegenerative disease- 50.9%
• 28 families did not have a family member with another neurodegenerative disease – 49.1%
• Summary of other neurodegenerative diseases that the families have in their health history:
• 17 cases of Alzheimer disease- in 14 different families
• 8 cases of Amyotrophic lateral sclerosis-(Lou Gehrig’s disease) – In 6 different families
• 8 cases of Parkinson disease
• 4 cases of Multiple Sclerosis – in 3 different families
• 2 cases of Huntington Disease- in the same family
• 1 case of Multiple System Atrophy
• Several families had 2 different neurodegenerative diseases in their family health history.

I discussed the findings of my recent Niemann-Pick type C (NP-C) family health history survey of neurodegenerative diseases with Dr. Ellen Sidransky and Joie Davis, nurse practitioner, both of whom work at the National Institutes of Health.

Dr. Sidransky and Joie are interested in investigating the possible association of Parkinson’s disease, ALS (Lou Gehrig Disease) and Alzheimer’s disease (diagnosed before the age of 65), present in the families who also have a relative with NP-C.

Thank you,

Karen Quandt, RN,MN

http://www.nnpdf.org/familyservices_15.html

Related posts:

1. Video: What is Niemann-Pick Type C disease? Can you share?
2. Orphan Drug Designation for Cyclodextrin | NPC
3. Canada Receives First Approved Treatment For Niemann-Pick Type C

In comparison to Niemann-Pick Type C Disease (NPC), it has maybe less than a 100 people currently living in the U nited States. Many sources state that 500 cases have been diagnosed ever worldwide. That’s not exactly as common of disease as Alzheimer’s.  NPC is described as a genetic degenerative neurological  disorder that mostly strikes during childhood that stores fatty lipids in the brain, liver, spleen, and bone marrow because of the cells inability to metabolize cholesterol. Although uncommon, adult onset can take place with NPC. Outcome is also fatal with no cure.

Whether it is Niemann-Pick Type C Disease (NPC) or Alzheimer’s, they are extremely saddening to experience as a loved one. One affects mostly older adults and the other strikes predominantly in adolescents. Regardless, a main symptom in each disease is progressive Dementia along with similar pathological features that include the loss of intellectual function.

The question seems to arise often regarding why would you refer to Niemann-Pick Type C Disease (NPC) as the “Childhood Alzheimer’s” when they are technically two separate diseases? Touche’, great point Dr. Watson. My wife Jennifer absolutely hates when the two are referred to one another. I on the other hand am absolutely fine with the comparison and title.

When you tell someone about NPC, they kind of give you that “deer in the headlights” look along with the “side head nod” like a puppy. For any of you in sales or marketing the first thing you are taught is to make an impact statement to gain attention or some type of understanding of what your speaking about. When you say the “Childhood Alzheimer’s” people can instantly relate to someone or to a situation where they’ve heard about Alzheimer’s or Dementia.

Overall if you explain in a way tha t they are two separate diseases that share some similarities, you should be able to paint a mental picture for your audience. In no way do I feel by using this reference that it confuses nor threatens anyone. Just explaining what NPC is, is confusing enough. How can you make it any more confusing for people? Seriously.

You as a parent are the biggest advocate for your children. We need to let people know about this horrible disease. I believe it holds keys to other diseases affected by the storage of cholesterol in cells. Please visit our website www.NPCFund.org or my family’s personal page www.BriParDun.com.

Photo used under Creative Commons from Sharron Goodyear.

Related posts:

1. Dementia in Our Kids – The Uninvited Thief
2. Why Rare Diseases OUR Important
3. FDA says Hold Off on Zavesca (Miglustat) approval.

Dementia, who was the thief that thought up this bright idea? Sorry honey, what did you say again? OK that might be a case of selective hearing. We’ve all have had family or known people who have suffered with this horrible symptom. When you mention dementia, Alzheimer’s comes to mind or we all tend to think of an elderly person with their hands on their head not able to remember out of frustration pounding the table with their fists. STOP!… WAIT!… Did you know our children can suffer from dementia too?

I recently read a post from another family who has twin girls with Niemann-Pick Type C (Addi & Cassi Hempel) and it prompted me to finally put some of my thoughts down on “paper”. I agreed so much with what was wrote on that blog post that I couldn’t wait any longer. Niemann-Pick Type C is just one of many diseases that dementia plays a critical role in the quality of life that children/ young adults will have. I think about our caregivers, teachers at school, and even our children’s peers that are uneducated about dementia who could benefit from understanding the signs. They would be more equipped to cope and manage someone with dementia, especially our precious little ones who we love so much.

“Our lives are made in these small hours, these little wonders, these twists and turns of fate. Time falls away, but these small hours still remain.”

-Rob Thomas-musician

Dementia causes a loss of memory, confusion, issues with speech and language, changes in mood or behavior, loss of building new skills, losing their appetite and having the ability to complete simple tasks. Being a parent of Brisan and Parker Stults who has Niemann-Pick Type C, you learn to deal with a lot of patience. It’s not an easy task but with education you can better equip yourself to handle this additional burden. For instance with Parker we notice restlessness, unable to sleep at night, and very repetitive with phrases or just words. To most parents that can become pretty annoying!   The underlying issue is due to dementia but backed by their horrible disease Niemann-Pick Type C. It’s such a sad reminder that they only have a childhood to live a lifetime yet they’ll never remember it.

I read a website recently that said “dementia doesn’t happen to children”. That is false because of the stigma placed with this topic. Dementia is an uninvited thief who holds nothing back. Just remember children can have dementia to and this isn’t just an elderly issue. Find the education you need to bring awareness to your community about this issue.

Dementia in children, teenagers and young adults A guide for parents, teachers and care professionals

Related posts:

1. Dementia. It changes your life.
2. Why Rare Diseases OUR Important
3. Social Security Adds 38 New Medical Conditions that Qualify for Disability

No related posts.