Tuesday, June 10, 2014

MDA Website and HNPP

MDA is a wonderful organization and as you know my daughter who has HNPP has been included in their annual MDA camp which she just loves.  They have a great website with information and resources for the diseases included in their association, however, I have yet to see HNPP listed.  When we were first diagnosed I was told that HNPP was similar to most forms of CMT as they both involve the PMP22 gene, CMT is a duplication and HNPP is a deletion.  Most recently our neurologist says it is now categorized as a subtype of CMT.  However, I have never found HNPP listed alone or under CMT on the MDA website.  As you are also aware there is so little information available anywhere, even on the web, that this lack of mention is important to me.  
I wrote the following letter to the MDA in regards to their website: 
My daughter has been diagnosed with HNPP (Hereditary Neuropathy with Liability to Pressure Palsy).  She is under the "umbrella" of MDA as our neurologist put it and it is very closely related to CMT.  There is so little information available and so few doctors that have even heard of it.  I tell people it is categorized under Muscular Dystrophy because they don't know what I am talking about.  When they or we go to look it up on your website, it isn't listed.  There aren't even pamphlets available from any of the doctors so we turn to the web and scour for any information we can glean.  It is disappointing to not even be listed on the MDA website.  CMT is but not HNPP.  There is an article or two in Quest magazine that your website links to mentioning it but we need some meat, some real information and attention given for at least those suffering from this disease.  Will you please include some collected information on HNPP and include this disease on your list as we are supposedly a part of it.  Thank you so much.  It is difficult to be part of a disease so rare that we have to teach our local doctors and therapists about it when we ourselves know so little.  Thank you again

I will let you know if I hear back or if anything changes on the website.

Friday, June 6, 2014

The Myelin Project


My sister in law told me about the movie Lorenzo's Oil.

From the website:
The film is based on the true story of Augusto and Michaela Odone and their son Lorenzo. In 1984 Lorenzo came down with adrenoleukodystrophy (ALD), a rare inherited disease. Doctors said that he would lose all his functions and die within two to three years. Refusing to accept this grim verdict, the Odones set out on a mission to find a treatment for ALD and to save their child (Lorenzo survived, and is now 25 years old). In their quest for a treatment the Odones often clashed with doctors, scientists, and support groups, who were skeptical that anything could be done about ALD, much less by laypeople. Their relentless struggle tested the strength of their marriage, the depth of their beliefs, and the boundaries of conventional medicine.

The Odones haunted medical libraries, reviewed countless animal experiments, badgered researchers, questioned top doctors all over the world, and persisted until a solution came to them in a moment of inspiration. They commissioned a special type of oil from a British firm, which normalized the accumulation of very long chain fatty acids in the brain, the hallmark of ALD.

The film ends on a positive note, showing several healthy children who, having followed a course of treatment with Lorenzo's Oil, remained symptom-free. The conclusion relates that Lorenzo can communicate again by a modified sign language, and that Augusto Odone was awarded an honorary Ph.D. for his pioneering work in researching and discovering a significant treatment for ALD.

In the second chapter of the story, the Odones founded The Myelin Project in the hope of finding a way to restore the myelin sheath, which is destroyed in ALD and a host of other myelin diseases, such as multiple sclerosis. If this vital substance can be restored, patients like Lorenzo may regain function and eventually lead a normal life. 

A good friend of mine has just been diagnosed with MS after a very quick functional decline.  I feel deeply for her and it has plunged me back into researching what is currently being done and available.  Oh, how many of us would be blessed if myelin regeneration possibilities can be discovered.  It is hopeful and I plan to look in on their progress often.  I thought you might like to know about The Myelin Project and what they are doing to help or even get involved.

While The Myelin Project has taken the conventional steps to advance remyelination research, we have taken the unconventional step of encouraging direct interaction between families and scientists, we continuously remind the scientists that there are people waiting for effective treatments. 

Research has been focused on efforts to understand mechanisms of myelin repair, with a view to discovering therapies that will permit restoration of damaged myelin. It is anticipated that these will permit at least partial restoration of function in patients suffering from myelin loss.

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.