Ask anyone if they have heard of the term "Lesch Nyhan" and you will most likely get a "no". Common disease terms such as cerebral palsy, meningitis, hydrocephaly, hepatitis, Lou Gehrig's disease...yes. But Lesch Nyhan?
Leaving the more complex medical overview to the medical journals, let us simply describe Lesch Nyhan as this:
* Symptoms resemble athetoid cerebral palsy (part hypotonic,weak muscle movements coupled with sharp spastic movements) resulting in inability to sit, stand or walk without assistance;
* High production of uric acid which will accumulate in the kidney's causing kidney failure if not treated. This is due to a lack of an enzyme called HPRT;
* Unexplainable desire to self-harm, notably by biting anything within reach,esp. the lips, cheeks, fingers and toes. NOTE: The child does this uncontrollably and feels a great need for help in restraint.
* Weak facial muscle control hinder clear speech but shorter phrases and easily formed sounds can be enunciated well.
* Behavioral issues. Emotional issues. Anxiety issues.
* Tendency to say or do things opposite of what they desire or mean, such as yelling out mean words to the people they love when they are frustrated.
* Low growth, failure to thrive (mostly from inability to eat well)
* Despite earlier medical findings, intelligence and ability to understand and communicate is only slightly, if at all, hindered by this disease (as attested to by our son and numerous other LND families), and limited only by inability to express verbally their complete thoughts.
* The child is healthy and normal in every area until usually the sixth or seventh month of age, then a noticeable reversal occurs where the head no longer lifts, the arms no longer try to crawl forth. Sitting rarely happens. This is the point where we knew something was definitely not right and sought medical help.
It has been said that it is a sad disease ...not only are you physically disabled, but you have no ability to stop harming your own body.
Blessed is the child that has a watchful caretaker. Compassion alone cannot be sufficient. Only love can encourage you to gently deal with a Lesch Nyhan child who continually tries to swat at your face, knocking your already crooked glasses onto the floor; claws at your face (not in anger but in curiosity and even in trying to gently pat your face!); kicks your nose during diaper changes; screams in terror as the car slows or starts; throws up EVERYWHERE if their crying is not appeased within half a minute...the list goes on.
They cannot control this.
Before anyone thinks this is a terrible tantrum stage, please think again. We have lived with this for three years. After four previous children and a firm yet loving discipline, we see the difference. The fear that enters my son's eyes as he BEGINS to do this is a pathetic sight. He knows. When it is done, he looks at us with great pain in his eyes and at times has even said he was a naughty boy. He was two and a half when he said this, sobbing and shaking his head, refusing to let me comfort him.
This was my fault. The power of words can build up a child or tear them down.
Earlier on in his diagnosis, I thought that I, the great disciplinarian that I am, could "reverse" and "train" my son into NOT kicking by simply letting him know that it was a naughty thing to kick at people. I'd put my finger up in warning, wagging it while saying, "Naughty. No. No." It caught on with the siblings...but nothing changed except for his little heart.
My older kids picked up on it and soon we heard "naughty" here and there, whenever he kicked them in the face. Finally, one night, as I was changing his diaper before bedtime, he kicked me hard in the face, bending my glasses (again!). I told him, "Naughty.No kick Mama." He teared up and sobbed so deeply that I cannot forget the depth of hurt in his eyes, even to this day. My husband and I immediately cradled him and I told him, "No. You are a good boy. A very good boy!"
His answer? "No, I naughty boy," as he pointed to his face. His cries turned to whimpers and nothing I said that night convinced him he was indeed a good boy.
We resolved as a whole family to never say those words in connection to his misbehaving body. The power of words. Considering the fact that Lesch Nyhan children tend to curse and voice violent words as they get older...we can only surmise they will only say words of frustration they pick up on from the frustrated caretakers themselves. How else would they even know those words?
Solution? We knew we needed to teach him discipline and understanding like other children but in a way that would not hurt his fragile state of wellbeing. Since his body moved in ways that he could not control, we decided to let him know that his hand, or leg would be the one responsible...not him in particular.
It has been working well. Obviously, it is up to us to make sure we are not in hitting range. And if we are, we should be prepared to defend ourself or else restrain him. In the oftentimes that we are kicked, we talk to the leg and say, "Leg, no kicking, please." And if anything is naughty...it is the offending limb.
He soon went from looking quickly at me with fear for having hurt Mama, to turning to his leg and reprimanding it for kicking me. "No, no, leg. No kick!" is his new method for taking part in understanding appropriate behavior (even if he cannot control his actions) and it helps him know he is not to blame.
His look of joy in knowing he is well loved is probably one of our most treasured memories in the midst of this trial.
We will visit the details of the various symptoms in following blogs...and see how we adapted our life to care for him to the utmost of our ability.
