Niemann-Pick Disease Conference

On July 28th-30st the National Niemann-Pick Disease Foundation held their 19th annual Medical & Family Conference. It was a place where families who didn't sign up to be in “the club” of Niemann-Pick Disease Types A, B, C gathered to connect with families and meet the some of the researchers involved in finding a potential cure. The conference was held in the great area of Norfolk, VA right on the bay!

Over the course of three days there was valuable time in breakout sessions to give out awards, talk about research, technology, and even support groups. The most beneficial things we took away from this conference was the fellowship with the other parents. It already is an emotional journey when your child or loved one has been diagnosed with Niemann-Pick Disease. Most of us didn't pick to be friends with the other parents…but fate brought us all together. As a unit, as humans we have to stick together within this small community of diagnosed cases. We all need each other in different regards and we all play a critical role big or small.

Keep Smiling

There are times we feel a inadequacy in helping be advocates for Niemann-Pick Disease. A lesson I picked up from the Global Leadership Summit last week was don't compare your life with someone that has been “successful” because you are comparing two different points in life. You don't know what type of ditches they had to dig to get to the point they are at. Ultimately when you make that comparison you are going to feel less adequate. Easier said than done right?

Advice

James “Jim” Ward was someone we met on the ride from the airport to our hotel. He lost a couple of his youngsters to Niemann-Pick Type C. He led the “Dad's Breakout Session” and has some good advice to offer. I would like to share that with you because not every “dad”or “mom” of an affected Niemann-Pick disease patient was able to attend.

Lessons Learned by an NPC Dad

07/23/05

Revised 07/22/11

 

• Doctors & Hospitals do not charge interest. Although all medical bills must be paid, all facilities I have dealt with in the last 10 ½ years will allow payments to be made on a monthly basis. For example, when faced with a debt of $500, I will call the provider and initially offer $25/month. Often the facility or physician will accept this arrangement. If not, they may counter with $50/month. Through this negotiation process, medical bills can be paid at a mutually agreed upon rate.

• If a patient is to be placed in a wheelchair, unforeseen damage can be done to the patient that the caregivers may not realize. During the last three weeks of my son’s life, it was determined that his bones had become very brittle due to his confinement to a wheel chair. This loss of bone mass interrupted the aggressive treatment of the pneumonia that eventually took his life. In hindsight, the following should have been done when the child is first put in a wheelchair:

• Find an orthopedist for the patient with whom you are comfortable

• Request a bone scan be done to determine the initial density of the patient’s bones

• At periodic intervals, other scans should be done to track the fight against deterioration.

• If any of the scans indicate any osteoporosis, pursue aggressive treatment to reverse this trend, such as calcium supplements (TUMS)

• Feeding tubes should NOT be avoided. Feeding tubes are flush on the surface of the patient’s tummy and not obvious. Patients with feeding tubes may continue to eat normally, provided food is not aspirated into the lungs. One of the major advantages of a feeding tube is that exact quantities of medication may be administered successfully on a routine basis. No longer must patients be tricked or forced to take medication on pudding or applesauce or in juice. The question of “How much of the medication did he get” will no longer be an issue. Once Niemann-Pick Disease progresses to the point where swallowing is severely limited, the feeding tube is a necessary device to keep the patient thriving.

• Treat your insurance provider as a part of the care-giving team, not as an adversary. Although many plan provisions may frustrate you, the people on the other end of the phone probably did not specify the limitations of your plan. If at all possible, arrange a meeting between yourself, your insurance co-ordinators, and your Nieman-Pick child or children. The purpose of this meeting is for the insurance co-ordinator(s) to match your children’s faces with their names, so that when their names appear on claim forms on the co-ordinator’s desk, he or she will remember and take care to provide you with the best support available. If the co-ordiantor is out of town, a videotape introducing your children may be in order. I stressed during these meeting that I am not looking for any special treatment, but if we need services or equipment, our needs are real. I have been through 4 different insurance companies (due to layoffs & plan changes) and have appealed to the insurance staff as CARING PEOPLE and have always been rewarded by high quality service.

• Do not hide patients with disabilities away. Since their ability to initiate interaction with life may be limited, the caregivers often need to provide outings into the community. Although you may move faster by yourself in a crowded or stressful situation, this provides a setting for the caregiver and the care receiver to bond in overcoming a shared struggle. When my son was alive, I would tube feed him at sporting events, slowly move through crowds at the home improvement store, and push his wheelchair ahead of me in local 5K races. My wife had cards printed with the National Niemann-Pick Disease Foundation’s website (NNPDF.ORG) so that the curiosity of inquisitive bystanders could be satisfied in an efficient manner.

• Spousal maintenance may be in order. While I was at work M-F, my wife handled the NPC (and non-NPC) kids. Because of the extreme stress of this daily task, I insisted on taking over for the night & weekend shift. To allow my wife to recharge, she occasionally “ran away” for a weekend at a local hotel while I held down the fort at home. This seemed to help her withstand the stress of our vocation.

• Sibling maintenance may also be needed. My wife and I did “tag-team” parenting with our children. One of us would occasionally break away with our non-NPC daughter to give her some “normal kid” time. She appreciated these episodes, but also learned to adjust to the needs of our special family.

• Since NPC eventually leads to seizures, they will be encountered eventually. Watching your child have a seizure is one of the most helpless feelings a parent can experience. After playing this game twice, I’d recommend asking your neurologist for a non-drowsy medication if possible. I’d also advise that the dosages be spaces out as much as possible. We found that seizure meds act as a blanket on the patient’s emotions and awareness of the outside world. We had my NPC daughter on a drowsy seizure med for 3-4 weeks before we asked the neurologist for a non-drowsy replacement. We never regained the level of functioning we lost in those 4 weeks.

A Date at Home

Last Update 9/15/10 10:00

Since the care of our 3 children (2 with NPD) was our utmost concern, we did not want to leave them with anyone except when necessary. In an effort to create a special event between my wife and me on certain weekend nights, we came up with “A Date In”. As opposed to “a date out with someone”, we had a date in with each other after the children were all in bed and all of the medical procedures were complete for the day.

We treated it just as of we had a “date” from before we were married. Here is he sequence we followed (more or less):

1. We would both dress in our best outfits in separate parts of the house

2. I would pick up food from a local restaurant and bring it home (home cooking is OK too)

3. I’d set the lighting & music and table to simulate a fine restaurant in our home.

4. We’d have a leisurely meal with time to reconnect and share a special event (while we used our audio (baby) monitors to keep track of the children). If one of us had to attend to any of the kids, we took care of the situation and returned to our special time as quickly as possible.

5. As much kitchen clean up as possible was delayed until tomorrow (like on a date).

This may sound “artificial” or “silly”, but I found it did the following for us:

1. Gave us a special event to look forward to and plan for

2. Showed that the each spouse wanted to make the other feel special for a brief time amidst the constant activities of our medical house

3. Gave my wife an excuse to “do” her hair and make up and exchange her jeans & T-shirt for a nice dress or suit. Women seem to really get a lift from getting all dressed up and the husbands get to enjoy the visual presentation as well.

4. Allowed us to nourish our marriage without neglecting or endangering our kids

5. It was a “time out” from the hustle and bustle of modern life and a reconnection to the roots of our relationship.

For additional information you can visit: www.NNPDF.org. Also there will be a new site geared towards families of Niemann-Pick disease that is in the works at www.Niemann-PickDisease.com. This site is not intended to replace any current support outlets but to enhance and centralize a place for families and potentially doctors to communicate in a more organized manner. We will keep you updated.