Thank You

I want to thank all that send me emails and comments.  I am very slow sometimes to respond and I want you to know that I do appreciate all your support and advice.  I am often overwhelmed in my day to day life, hence the very infrequent posts, and am happy when I get at least half of what I had planned done each day.  Know that we receive your messages and greatly appreciate them.

My Second Daughter

My second child and second daughter, almost eight now, has been complaining often that her "pressure points" keep getting hit.  It is always in her arms or hands and it causes her pain.  It is from simple things like her shoulder hitting the side of a doorway as she walks through or hitting her hand on a counter top or table.  This only started in the last few months and sometimes she has one of her arms lying limp beside her.  She can move it but it causes pain and takes more than normal effort.  I have her squeeze my fingers with each hand so I can try to judge a difference in her grip which has been significant at times.  It is always gone within a day or two and if I were not watching for the signs of HNPP, I may not have paid much attention.  We set up an appointment with the pediatric neurologist that her sister goes to.  I am hoping she will be able to tell us if there has been any noticeable nerve damage or muscle weakening or if I am making a big deal out of nothing.  I don't want to let it go if it is important so, we will see.

As a side note:  Her cousin was just diagnosed with HNPP as well.  He is the oldest in his family and actually got his first injury when my first daughter got hers.  His was a weakness in his hand that affected his performance with throwing the football.  They didn't know what had caused it but thought it may be related to his sport activity.  They called us to get details on my daughter's hand issues wondering if it could be the same thing.  This was about a year before we got her diagnosis.  It is funny because we determined it wasn't related based on the fact that the problems were not quite the same.  I didn't understand the disease at all.  Now it seems so obvious to me.  It just goes to show how misunderstood this disease can be and how easily it can be missed.  His doctor then wanted to do surgery as did ours but we both decided against it and his partial paralysis and numbness healed.  It wasn't until his second injury (weight lifting class) that they were finally diagnosed.  He is now seeing our same neurologist.  It has been interesting seeing my sister-in-law's perspective change as she has started studying the disease now too.  
Even those with it can't fully understand what another sufferer is going through if their symptoms are different and especially if theirs are less severe.  Compassion is so important.

Should I Test My Children?

On one of the online HNPP support groups I am part of, one member asked us this question:
Should I test my children for HNPP?
She had recently been diagnosed and was wondering if she should have her children tested as well and how to protect them if they have it, but was it wise if knowing could harm them emotionally, worrying about it and their future.
I was one that replied mostly because it is a question I am mulling over myself.  Here is my reply.

"Thank you for posting this question.  This is something I am dealing with at present as well.  I have five children and my oldest is nine.  We learned about HNPP because my oldest who was then six lost the use of her left hand and part of her arm suddenly and instantly from doing NOTHING at all.  She was simply resting on her elbows as she listened to a story and pop, her hand was paralyzed.  Talk about feeling like you don't know how to protect your children.  I feel this very strongly as well.  It is a delicate balance that I haven't yet learned how to manage, although I think I am getting better.  I am a big advocate for being open and knowing what you are dealing with.  There was a whole set of cousins that knew about this disease being in the family but never shared that knowledge.  I know it is very personal for some people but had we known it could have helped us a lot in diagnosing what was wrong with her.  It took over a year, another injury, and several tests before she was diagnosed.  I am not bitter about it, I just push for openness where it might concern or help others.  That being said, I have yet to test any of my other children.  Originally, I wanted to get them all tested.  I felt it would be important as their mother when planning what extracarricular activities would be safer for them and hopefully teach them to be cautious with their body without them feeling like they have to live in a bubble or creating a hypochondriac. 

Every doctor I have discussed this with has discouraged me from having the others tested for a few reasons.  

1) The insurance won't cover the blood test because it would be exploratory rather than "necessary."  

2) It would be violating the rights of my children to choose for themselves if they want to know or not (this reason took me quite a while to understand and I am still not sure if I agree with it) 

3) Just having them diagnosed with this disease, despite having symptoms or not, will make it harder for them to get both life and health insurance.  

I still want to know, but I was advised by our pediatric neurologist to only test them if symptoms arise in the others.  I guess I am waiting for this or I just still can't decide.  As far as protecting my HNPP daughter:  This is something that I am still working out.  My husband, whom we learned has HNPP as well, is for letting her live her life and just dealing with the issues as they come.  I am more cautious and want to prevent as much damage as possible but still don't want her to miss out on being a "regular" kid.  Because she has had some serious issues with it at such a young age the neurologist feels she has a severe case; this pushes me even more toward caution.  I look at it like we need to preserve her function for as long as possible by preventing any injury we can for as long as we can.  I basically encourage her to be an underachiever as far as physical activity.  We have to watch out for pressure, repetition, and stretching (basically everything), so I tell her if it pulls: stop doing it, if it hurts: don't do it, change your position a lot and don't rest on anything, and don't be aggressive (her second injury was from playing boxing on the wii).  Hopefully overtime she will learn her limitations and we are just cautious.  She recently started taking violin and her teacher stressed position, position, position.  She can't hold the violin that way safely or her wrist.  It was at this point that I explained her disease to her teacher.  We didn't take her out of violin and she is able to play, she just plays it like a cello.  I try to help her do all that she wants to do but sometimes we need to do it differently.  She understands she can never push herself to become an athlete, but I still let her participate in sports but it is only for fun and exercise rather than to achieve.  I may be wrong but this is where we are right now.  I am anxious to hear the advise others in the group have to offer us as well.

- Jerusha       

Annual Neurological Checkup

Checkup:

I took our oldest in for her annual exam with the Neurologist at the Children's Hospital. They did another nerve conduction test (electromyogram or EMG) on her extremities. The first time she had this done was a few years ago during all her exploratory testing to determine what was wrong with her. I was promised that she would be medicated for the test. This is a test where they put a needle into a muscle and send a shock, then they measure the response time and strength from the nerves. My daughter is very afraid of needles so I was grateful she was going to receive medication for it. My husband was able to go with her for it but when they finally set her up for the test, the doctor said that there was not enough time to administer and wait for the medication to take effect so they had to do it unmedicated. He chose to go ahead with the testing since we had waited so long to get an appointment for it. It was a very traumatic experience for her. When my husband told me about it, I was very angry about how it was handled. This was just part of my poor daughter's trial in the effort to get her mystery problems diagnosed. They wanted to get another conduction test done because it has been a few years and because their readings weren't very accurate due to her distress during the last one. The medication was a priority this time and it did go much smoother thankfully. We also had a much less in depth EMG done on our second oldest who is six to see if there were any abnormal nerve responses. There is a 50% chance that each of our children have the disease but our oldest is the only one who has expressed any symptoms and the only one tested for the disease. Testing her, our second, provides us with a base line to work from should she develop symptoms later and may show if there is any damage. It will not confirm whether she does or does not have HNPP but if there is any nerve damage, it is a possibility.
The Results:
Our oldest showed evidence of nerve damage on every nerve tested. Her arms, wrists, legs and ankles were all tested. Not good at only 9 years old but things could be worse. She appears to be functioning normally right now and her only recent issue was very mild. She woke up with one arm much weaker than the other. She could move everything as she should but it took a lot more effort. Thankfully this problem was gone by the end of the day. We have her sleeping on a memory foam mattress to reduce pressure while she sleeps but it is not a guarantee.
This disease is so hard to monitor. Nerves can and are being injured during normal daily activity but you don't know until enough of the nerves in the bundle get damaged that the others can no longer compensate for the difference. Then we see it, when normal function is effected. She had a period of over a year where she was incontinent. Her bladder muscles were very weak. Very unusual in young children who are well beyond toilet training. It only made sense to me that it was HNPP related. Muscle weakness onset with no apparent injury and then the eventual "healing" on its own. We went to several doctors about this problem too and none could agree on a cause or found something that would help. Some thought it might be related, some said it wasn't, and no one said it was for sure due to HNPP. Another trial in having a rare, lesser studied and lesser known disease.
Our second child's results were that she did have some nerve damage in her wrists. Similar to carpal tunnel at six years old. Not normal but not a confirmation that she has it, probably does in my opinion.
Genetics:

I understand genetically how each of our children have a 50% chance of having this disease. It is not one that can be a recessive gene, you cannot be a carrier. You either have the needed gene(PMP22) or you don't. Normal individuals have two PMP22 genes. This gene affects the myelin coating or sheath surrounding and protecting the nerves. Those with CMT have more than two, those with HNPP are missing one. The non affected parent gives one PMP22 gene, and the other parent has a 50% chance of giving the gene or not giving it. Thus there is a 50% chance that you will get that needed second gene. If you don't get it, you have HNPP. This being said, there seems to be a much higher percentage in my husband's family. His father, who has been tested and confirmed to have HNPP, had four children. All four show symptoms of HNPP. Of these four, two of them had children. The oldest children in these two families thus far have expressed symptoms of HNPP.
In My Opinion: It seems to be difficult for doctors to accept unusual symptoms from HNPP patients being due to HNPP. Not only is it rare, it is also rarely diagnosed due to its hugely varied symptomatology, varied degree of severity and lack of knowledge among the medical community. My husband visited several doctors over the years for various problems that were considered "mysterious" in some way and not only was the condition HNPP not considered, it was completely unknown to them. He was never led to a neurologist and there are many others with mild enough symptoms that they never mention them to a doctor. We were only led to the knowledge of it in our family through our daughter's problems, and even then I feel we were lucky we received the correct diagnosis despite it taking a year. Her neurologist was familiar with it. Even with this knowledge we hit stumbling blocks with doctors who just don't know enough about it to accept what we say. They still want to eliminate all other possibilities for having the trouble they do before reaching the conclusion that the only thing you can do is leave it alone until it starts to heal and then mild occupational or physical therapy to regain as much movement as you can. I appreciate doctors and all they are able to do but they are also part of a frustrating cycle at times. Hopefully in years to come it will get better as more information becomes available to all of us.

Join the HNPP Group

Through some Internet searching I came across a Yahoo group called HNPP for those diagnosed with or with the symptoms of HNPP. I recently joined and am very excited to learn more from these individuals and hopefully find some children suffering from this disease as my daughter is that she can connect with.

Here is a link if this group is right for you.

Click to join hnpp

How HNPP relates to CMT

I found this interesting article with some good information explaining how CMT and HNPP relate.

Researchers Probe the Origins of Charcot-Marie-Tooth Disease
by Dan Stimson

(this is a portion of the article, click the title link for the full version)

CMT1A and HNPP: Flip Sides of the Same Coin
In the late 1980s, while the CMT gene hunt was gaining momentum, neurologist Phillip Chance was searching for the genetic cause of an apparently unrelated neuropathy — hereditary neuropathy with liability to pressure palsies (HNPP). To his surprise, Chance's investigation revealed that HNPP and most CMT1 cases result from the same mutation event. Once that mutation occurs, the emergence of either HNPP or CMT1 in a family is sort of like flipping a coin.HNPP is an inherited disorder that causes temporary attacks of paralysis typically localized to a single limb. Those attacks take weeks to months to recover from, and are brought on by palsy — the malfunction of a peripheral nerve that serves the affected limb. "[HNPP] is so different clinically from CMT," says Chance, "that few people suspected it had anything to do with CMT." But in 1992, Chance published an MDA-funded study showing that HNPP is genetically related to the most common form of CMT1 — CMT1A. Earlier that year, MDA-funded researchers had established that CMT1A is caused by a duplication of the PMP22 gene on chromosome 17. (It's important to remember that, except for the X and Y chromosomes, everyone normally has two copies of each chromosome, one from dad's sperm and one from mom's egg. So, having the duplication means that a person has three copies of the PMP22 gene.) The resulting overproduction of the PMP22 protein — a component of myelin — is somehow detrimental to Schwann cells.Though it's a rare event, the duplication usually arises while single copies of dad's chromosomes are being parceled into his sperm. As his two copies of chromosome 17 are preparing for separation into the sperm, a piece of genetic material containing PMP22 is accidentally removed from one copy of the chromosome and inserted into the other. So, one sperm receives an extra PMP22 gene, and one sperm loses its PMP22 gene. "The existence of the duplication predicted that there would be a reciprocal deletion, but it was generally assumed that the deletion would be lethal, of no consequence, or it could have resulted in a disorder which wasn't necessarily a peripheral neuropathy," says Chance, who's now at the University of Washington in Seattle.Chance's research showed that deletion of the PMP22 gene — the flip side of the mutation underlying CMT1A — is the cause of HNPP. "We had no reason to think that studying HNPP would give us any particular insights into CMT," says Chance. But it has helped make clear that peripheral nerve is sensitive to high or low levels of PMP22.

"The relationship with CMT has also done a lot to bring HNPP into the clinical arena," says Chance.

HNPP - hereditary neuropathy with liability to pressure palsies

Almost two years ago my oldest daughter who was six at the time suddenly lost some of the use of her left hand. It was instant and without apparent injury.

She could not lift her her hand at the wrist, could not make a fist, could not spread her fingers and had a very weak grip. I thought she had just slept on her hand funny and that it would come back. She later told me that it had actually stopped working the night before when she was listening to her Aunt read her a story. She was doing nothing at all, just resting her head on her hands propped up on her elbows It didn't improve and upon visiting the doctor he rushed us to Primary Children's Hospital for immediate tests which all came back normal. A relief, but she was obviously not normal so the tests continued. Over several months she had X-rays, CAT scans, MRIs with and without contrast, ultrasounds, a nerve conduction test, numerous physicals, and so on. All that was determined was that she did have nerve damage and they had no idea why. We were so sick of doctors and tests with no answers and she wasn't getting any better. One symptom she did not have was pain, thankfully. There was mention of a possible genetic nerve disorder being the cause by the pediatric neurologist. She said that this disease allows the nerves to be injured more easily but I completely dismissed it. She wasn't DOING anything. How could that injure the nerves, more vulnerable or not. Plus, I had never heard of anything at all like this happening in my family or my husband in his. The only option they gave us for help was surgery on her elbow to move her nerves. My husband and I were not comfortable with this especially when it wasn't clear why or how the nerve damage occurred and requested that we try physical therapy. We were referred to a wonderful group of therapists and the actual type she received is called occupational therapy. Her therapist began aggressive treatments. We would visit several times a week at first where he taught her at home exercises to do and he would shock her muscles in the hand and arm to force contractions. She had almost complete atrophy at this point. Her progress was very slow in the beginning but once she regained some muscle her movement and ability improved very quickly and within a few more months she had complete recovery except for a small section of her arm that still has no feeling. It was bizarre but we were very thankful and thought we were done with that. Almost exactly a year after the first injury she was playing a boxing game on the wii when suddenly she lost strength in her right hand, arm, shoulder and back. I immediately took her into the therapists and he was shocked by the second injury and even more that it was with the other hand. He did some work with her but said we needed to go back to the doctors. I really didn't want her to go through all of that again but we went back to the pediatrician who sent us back to the neurologist. To my surprise, the neurologist said with almost complete certainty that it was the genetic nerve disease causing the problem. I had expected more confusion but this second injury had brought more clarity. All she needed was a blood test to confirm and we would go from there. I took down the name of the disease this time and began my own research. Unfortunately, there is not a lot of information out there and because it is so rare in the general population, most doctors have not even heard of it. This is the reason it took so long to get it diagnosed and is also the reason many people with this disease get improper treatment if any at all and will often go undiagnosed. It is rare in the general population but anyone that has it will find it very common in their family. This is because you cannot be a carrier of this disease. You either have it or you don't. If you do, there is a 50% chance that you will pass it on to each child. Since our daughter was confirmed to have this disease, it meant that either my husband or I did have it, and then one of our parents and then one of theirs, and so on, not to mention any number of extended family members that inherited it as well. I was able to find one good website with information that has just been compiled by those who also have experience with this disease hnpp.org After studying these pages I came to understand how varied in severity this disease can be and that it can affect any part of the body. I came to recognize the symptoms and once I had learned what questions to ask I began interviewing our families about their related medical history. I was amazed at how easily I was able to find those with the disease. Even my own husband's injuries, which he had had, we thought were not at all connected until we began studying about HNPP. For example, my husband had weakness in his arms when he would hold them above his head. This finally bothered him enough that he went to a doctor which referred him to a therapist. The therapist did some testing on him and was very confused by it. He said that based on where he lacked movement and strength he had all the symptoms of someone who had torn their rotary cuff except he had no pain. He gave him some exercises to do which helped and that was the end of it. An example of one of his milder symptoms is when he gets his blood pressure checked his entire arm goes numb for about five minutes. Most people who are bothered enough by an HNPP related nerve injury to see a doctor never make it far enough along to get to a neurologist, which are the only doctors that would even know to look for that as a cause. This disease is not too bad if you must have a disease. It is labeled as a nuisance disease because the injuries are usually mild in nature and the weakness is often regained over time as the nerves heal. It also doesn't usually express in children. Because our daughter has already had two "severe" injuries the neurologist suspects she has a severe case of the disease. It is not life threatening and if you know what to watch for and are careful in your activities, you can avoid a lot of injuries.

For Family Members:

Who Has It?:
We have learned it has been passed through the Renstrom line at least as far back as Andrew Renstrom. There is even one line of cousins that is already aware of this disease and had already been tested and confirmed to have HNPP. I have not been able to trace it beyond but Andrew's grandson believes these nerve problems were common in the village he came from in Sweden.

Why Should I Watch for it?
Surgery will not help a nerve injury in someone who has HNPP and most likely will only cause more nerve damage. It is important to be aware of this family condition to potentially prevent unnecessary tests, doctors bills, surgeries and injuries.

How Does Having HNPP make nerves more susceptible to Injury?
The myelin coating that covers the nerves acts as a rubber band and coating to keep them protected and in place. With HNPP the myelin has lost its "elasticity" and once a nerve is stretched, it is left exposed and vulnerable. Normal daily activities can cause nerve injury to someone with this disease.

How Do I Prevent an HNPP Related Injury?
The nerves being extended too far, worn from repeated movement, or have too much pressure applied can cause injury. As a mother this is frustrating because it sounds like there is no way to protect my daughter. But the best way is to avoid repetitive movements by changing up what you are doing often, avoid pressure by changing how you are resting or sitting often, and avoid over stretching by not pushing your body to the limits of its ability.

I am not a doctor and am simply sharing what I have learned through our experiences with our family and from my research and our daughter's doctors. Each person will vary greatly on how their body reacts to stress placed on the nerves. If you do have this disease, get to know your limits and do not push them. I wanted to put this information out there so any possible family members that may have related symptoms can get properly diagnosed.