My oldest girl is at MDA Summer Camp for the first time this year. Once she was confirmed to have HNPP an MDA counselor met with us and informed us that she has one of the neuromuscular diseases that is part of the MDA organization. She told us about summer camp and ever since she has been looking forward to it. It is almost a week long event and full of fun activities for the kids. This is the longest she has ever been away from us but that didn't seem to bother her, she was all excitement when I dropped her off on Thursday. Her wish is to meet someone, a kid, like her with similar problems. Although her father has this same disease and others in the extended family, it wasn't the same to her. I hope she will be able to learn a lot from this experience. We are one of the lucky ones if you can call a disease lucky. It is not life threatening and often not life altering. She is unusual in that her disease expressed in her at such a young age, 6 yrs, and that she has had two nerve damaging injuries already. Her pediatric neurologist thinks she has a severe case. There are many children she will meet here dealing with much worse physical challenges and even facing the fact that they will not live a full life. I feel for these families and going through the challenges I did with my child and seeing her having to adapt, being physically challenged and noticed for it, all with the fear of the unknown, we didn't know what was causing it. I have developed a new perspective and great compassion for those who suffer in such a way. I am interested to see how this experience will affect her. I am very grateful to all who have helped my daughter through her struggles, helped us get the diagnosis, showed kindness and compassion, and for all those wonderful people who donate with time and funds to the MDA programs and research work. Your help is noticed and deeply felt.
There is a 50% chance that each of my other children will have this disease as well. I haven't had them tested yet, but plan to soon. In most of the family cases that we know of now, their symptoms are not severe but based on family stories I believe her great grandfather did have a severe case. His expressed while he was in military training for WWI and he continued to have problems from there. I hear this is a common way for this particular disease to start causing problems. The physical stress and strain are intense and unrelenting. Too much pressure, repetitive movement, or over extension of the nerves causes damage and although much of it can be recovered if given proper therapy at the proper time, repeated injuries lessen this greatly. Her grandpa, who is now 90 years old and the son of the great-grandfather I am referring to, remembers his dad being tired a lot and resting in the fields. He was a farmer in the small Utah town of Huntsville and thankfully for their family he had the means to hire hands to help him on the farm. He remembers one of his earlier and more severe injuries when he went to lift a saddle onto his horse and lost all strength. His arms were stuck and he couldn't move. Her grandpa went through WWII with little neurological problems but he does have little things. He cannot button his buttons because of muscle loss in his thumbs. They had nerve injuries and the proper therapy was not given so his muscle atrophied. Her father who also has it has had a few injuries in the past, but we never related them until we learned of this disease. It is uncommon in the general population but if it is in your family, it will be very common. I will post the information I wrote about our experience earlier on another blog, a family history blog. Her grand father, after obtaining his medical records, had been diagnosed with HNPP years earlier and so had his father and a cousin. They were even part of a research study at the very same hospital we were taking our daughter to for tests to try and discover what was wrong with her. Her grandpa didn't even realize or remember he had been diagnosed. None of the doctors had impressed upon them the need to share this with their families and to watch for the disease. There is a 50% chance after all that each of his children have it and then those that do the same for their children. I just can't believe that the answer was there all along but because we were not informed, we went through a lot of unnecessary testing, stress, worry and possibly even unnecessary injury. I suppose the doctors only related the disease to their patient's issues at hand. I am very thankful to know now and it is important to me to test my other children so I can make informed decisions when we choose what sports or other programs would be appropriate to hopefully spare them any unnecessary nerve injuries. It is a delicate balance to be a safety net and not a net that ties up their life and keeps them from the joy of it. Growing up with a dad who always taught us to push ourselves and our bodies to the limits and knowing the fulfillment of working all day and hiking beyond what you thought you could do, Pushing your body to achieve and reaping the rewards. I find myself telling my daughter to not push herself, take it easy, don't strain. I feel badly that she may not know the physical joys that come with such achievements, she was not made for intense sports. It isn't safe for her, but it is still her life and her choice but as her mom I want to keep her safe. HNPP affects everyone in so many different ways. Her aunt, who most likely has it based on her injury history, was able to be a marathon runner, but one long bike ride left her hand, arm and shoulder injured for months which led to an unnecessary surgery that didn't help. It is just impossible to know for certain how to protect her so we just try to inform and stay informed and do our best as we go along.
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