Sunday, September 15, 2013

My Second Daughter Update

Great News!
We got the test results back and she does not have HNPP.
A surprise, I was expecting it to be positive.  The neurologist thinks it must have just been an isolated injury or incident causing the weakness.  At her followup when she gave us the results her strength had returned and was having no other symptoms.
Another surprise, I love knowing!  We have questioned getting them tested but I am so thankful we did.  I can relax with her.  She can be in competition sports if she wants to, she can be an athlete if she wants to.  A few days before her test results she participated in school field day.  I was helping out and had great fun watching her.  She was one of the best at long jump and loved doing it over and over again.  I felt some hurt in my heart watching her wondering about her physical future.  We are so happy for her now.  When we returned from the followup visit she kept leaping across the room telling me how she was going to train for the Olympics.  I don't expect anything like that but it was fun for her to feel like she could.  She felt unlimited in her dreams and abilities.
Another surprise, it was more expensive this time around.  Same insurance, same company used, but it cost a lot more.  I called around but the only answer I got from someone was that it could be the time of year the test was done.  No idea what that means and I ran out of time to research any further so we just paid it and moved on.  I still think I would love to know about each of them but the same questions come up.  Is it better for them ultimately if they are positive?  The increase in cost has held me back as well.  So, we will continue on and see if anything comes up and go from there.  

Saturday, April 13, 2013

The Invisible Disease

My husband and I joke calling it the "lazy" disease.
He absolutely hates having limitations, especially unseen ones.

I know he wouldn't survive a day in a construction job without several issues coming up.  He does build things around the house from time to time but not without my help and only in short stints.  I even push on the back of the drill for him while he holds it until his hands go numb.  Quitting time.

Recently we have been doing a lot of repairs at our old house we use as a rental.  My husband came home earlier this week with both knees numb and then yesterday he came home from the house with his right hand numb.  They have not yet recovered.  He gets frustrated at his body and needs help.  He hates to ask for it.  He looks fine, he looks fit and able and he is willing but his body does not last.  He lived in denial for a while but when the problems come you have to face it.

The worst part of it for him is the judgement of others.  He feels he appears Lazy to those around him.  The unkempt yard, the wife doing the man's job while he just sits around.  "If he says he is unable to lift or work why do I see him lifting and working?"  Judgement is painful.

Even when you explain it, it is hard to understand.  Yes, sometimes he is stronger than other times.  Sometimes he can lift and sometimes he can't.  He could work harder, but there is a heavy price to pay.  Sometimes he does work harder than he should and comes home with numb body parts.  If he doesn't stop immediately, those numb body parts will stop working all together.

We are quite a pair.  I am only 34 and already have arthritis and sjogrens, both attack the joints.  My body gets stiff and aches but between the two of us we get it done, well most of it.  We take turns and continue doing the best we can and keep going.

I have come to realize that everyone's body has something wrong with it.  It is part of the nature of life and we need to remember that when we look into another's window.  We can't see the whole picture, we don't know what goes on inside.  Don't judge another's need, if you see a need just help.  We all are in need.              

My Second Daughter

We took her to see the pediatric neurologist just before her eighth birthday.  She has significant weakness in her right arm (she is right handed) so the genetic blood test for HNPP was ordered.  She also had a strange delayed second reflex reaction in each of her knees.  The doctor tested her knees with the little thump and she kicked out twice every time.  Don't know if this is related but the doctor thought it was strange so I am making note of it.  We took her in for the blood draw a week later and are now awaiting the results.
My husband wasn't sure if he wanted her tested.  We know it is in the family and if the children are having problems we can just assume it is this disease.  I was torn.  I want to know but there is the worry of how knowing can affect their future.  Will they be denied insurance or have to pay a lot more?  The doctor recommended we don't test them unless symptoms show up.  I asked my daughter if she wanted the test, if she wanted to know for sure if she had it.  She said yes, so we did the test.

PS: get a rolling backpack for your kids.  I don't know what I was thinking.  I feel like I am being so careful and cautious but then I go to the doctor and she asks if she is carrying a heavy back pack.  I feel so silly.  Of course they should not be carrying heavy weight on their shoulders and they do it daily.  I feel so dumb.  We ordered each of my girls one that day and they are working out wonderfully.    

Wednesday, March 27, 2013

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.

Wednesday, July 25, 2012

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       

Saturday, February 25, 2012

Annual Neurological 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.
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.