The article, Living with Wallace, is a real-life account of a mother whose son has

Transcription

1 Abstract The article, Living with Wallace, is a real-life account of a mother whose son has Lesch-Nyhan Syndrome (LNS). Lesch-Nyhan Syndrome is a genetic disorder which results from the X, or sex-linked, chromosome. The article mentions some of the various effects of LNS, such as orange crystals in a patient s urine. It goes on to discuss the progress of Lesch-Nyhan and some of the treatments that are used to suppress, but unfortunately not eliminate the disorder. The case study, also provided by Wallace s mother Michelle, describes what life is like taking care of a child with LNS. Article: Living With Wallace Greetings, my name is Michelle Rogers. I am the mother of a Lesch-Nyhan Syndrome (LNS) patient. The reason I wrote this article is to inform others of LNS and serve as a support system to all of those that have family members or friends with Lesch-Nyhan Syndrome. This disorder may appear to be new, but actually it was discovered nearly forty years ago in 1964 by Michael Lesch and William Nyhan (Jinnah). LNS usually can be detected between three and six months after birth. Some of its drastic effects include self-deterioration (biting lips and fingers), orange crystalline residue in urine, loss of head control, and ballismus (violent flinging of body parts). What is LNS you may ask? Lesch-Nyhan can be defined as an inborn error in the metabolism of purines. (Lesch-Nyhan Page) Let s just say that Lesch-Nyhan Syndrome operates somewhat on the domino effect principle, or that a collapse in one thing causes a collapse in another. The process begins with a mutation of the long arm of the X-chromosome, or sex-linked chromosome. This causes a degradation of the hypoxanthine-guanine

2 phosphoribosyltransferase (HPRT), a purine recycling enzyme. This tells the body that it should make more purines, which leads to the overproduction of urine, or hyperuricemia. After this stage, a majority of LNS patients develop an accumulation of urine in the form of an orange crystalline substance. Since LNS is sex-linked, it comes to no surprise that it is found predominantly in males. In fact, this disorder affects about 1 in every 400,000 males (Tyler Medical Center). You have heard of one other major effects of LNS, but there are many more than just the crystalline residue. As briefly mentioned earlier in the introduction, Lesch-Nyhan has some devastating results. According to the Research Foundation for Children with Challenges, there are nearly twenty identifiable characteristics associated with Lesch-Nyhan Syndrome. The numerous symptoms include the swelling of the joints, speech impairment, aggressive behaviors, weak muscles, and mental retardation. As a result of the plentiful bodily dysfunctions that result from LNS, a majority of patients cannot walk. Some can communicate, but their words tend to be muffled and unclear. This is similar to placing a cloth over someone s mouth and attempting to hear them speak. Despite its malicious effects, people with LNS can live to the age of forty (Jinnah). The aforementioned symptoms pertain to mostly to males, but for the few females with Lesch-Nyhan Syndrome, the effects are somewhat different. Females with Lesch-Nyhan are heterozygous, meaning that they posses both an X and Y chromosome. Their effects are less drastic, as they usually do not have hyperuricemia or gouty arthritis (Scriver). According to The Metabolic and Molecular Bases of Inherited Disease, one effect of female LNS patients that is not commonly found in males is the inactivation of the X- chromosome. This results from having both HPRT + and HPRT - cells. Since there have been very few cases of females with LNS, not much is known about its effects. However, as time

3 progresses, information is slowly becoming available. At present, there is no cure for LNS in either males or females; however there are ways that one can go about suppressing some of the effects. How do you treat Lesch-Nyhan? First, one must make sure that he/she has Lesch-Nyhan. There are other disorders in which hyperuricemia is a symptom, so ask a doctor. In addition, some LNS patients have normal uric acid levels, so they could be misdiagnosed (Research Foundation for Children with Challenges). If a patient does have hyperuricemia, it first must be reported. If not, it could lead to renal failure, gouty arthritis, and tophi deposits. (Research Foundation for Children with Challenges) The most effective treatment for hyperuricemia is Allopurinol. This inhibits the metabolism of hypoxanthine and xanthine to uric acid by the enzyme xanthine oxidase, which in short means that Allopurinol is generally effective in limiting hyperuricemia and its consequences. (Jinnah) In fact, the use of Allopurinol can even add thirty-five years to a Lesch-Nyhan patient s age (Research Foundation for Children with Challenges). For those with spasticity, or an involuntary contraction of muscles, baclofen has been proved to be helpful. Also, benzodiazepines are used to lessen anxiety. There are also non-medication forms of treat for Lesch-Nyhan. For example, some suggest using psychologist B.F. Skinner s theories of reinforcement, or rewarding behavior, to produce favorable results. I scold and/or spank Wallace if he does something bad when I know that he knows better. I also take away television from him when he misbehaves. He is known to moan when I turn off Oprah, his favorite show. There is also a treatment that is nearly the complete opposite of reinforcement, which is selective ignoring. This form of punishment is which is used by other parents, such as those of the Research Foundation for Children with Challenges, entails pretending that a behavior is not happening.

4 The progress for this disorder is coming along quite slowly. Despite its detection nearly forty years ago, it is still considered one of the more rare genetic disorders. There are, however, emerging breakthroughs, that could possibly eradicate this disorder. For example, Friedman and colleagues cloned the gene responsible for LNS in Even though this discovery was made nearly twenty years ago, it still leaves the door of opportunity open. Hopefully, as time progresses, there will be a definite medication or treatment that will allow for permanent extinction of the disease. I pray that there will be a day that my son will be able to live as long as a normal human being. Case Study: Living With Wallace Wallace was born on my birthday, July 14. I just knew that he was special. As the first born, my husband Christopher and I were extremely excited to receive our bundle of joy. As far as the pregnancy goes, everything went well; it was not until after Wallace s birth that Christopher and I were informed that something was seriously wrong. Once the doctors ran tests, they found out that Wallace has a problem with purine synthesis, or the production of organic bases. I do not remember if I was in shock or if I could not understand all of the medical terms he was using, but either way I was completely lost. A parent never wants to hear that their child just may not be normal. I could not understand how a seemingly perfect baby could be diagnosed with a syndrome that I had never even heard of before. Weeks and months passed, and life went on as usual in the Rogers family. Then, one day during the Christmas season when I was changing Wallace, I found orange sand-like residue in his diaper. Initially I thought that he was playing in the sand, but soon it started to become more and more frequent. I called my doctor and explained the situation and he immediately knew what

5 was wrong with Wallace; the beginning effects of Lesch-Nyhan Syndrome. Dr. Rollins explained that what was happening was a direct result of the malfunction of his urinary system. I do not want to say that I felt relieved, but I was glad that it was not worse than that. As time progressed, Wallace acquired more symptoms of the disorder. Self-deterioration was one of the first of these symptoms. I know that every mother tells her children not to suck on their thumb and to get their fingers out of their mouth, but I would never imagine having to tell my son not to literally bite his fingers off. I try to be as gentle with him as possible because putting objects in your mouth is a developmental part of life. As a psychology major I know that the oral stage in Freud s psychosexual development is one of the most important. It is said that weaning, or fazing someone off of something, can result in lifelong behavior changes. I also have to make sure that Wallace does not bite his lips. Trying to prevent him from doing this task is much harder than removing his fingers from his mouth. Every time I try to take them out, they always automatically end up in there like his thumb and mouth are attracting magnets. The inability to walk is another one of Wallace s setbacks. He, according to the doctor, cannot walk because of the back arching that accompanies the disease. Currently he gets around on his electric wheelchair. Since transportation can be quite difficult, we have a Mark III van which is wheelchair accessible. This can sometimes be a burden because we have to go through the tedious process of lowering and raising the ramp and buckling him in. Over time Wallace also developed ballismus, which is the flinging of body parts. This is probably the worst part of having a child with LNS. I do not think that Christopher and I can count the amount of things that Wallace has broken. I remember one time when he broke an expensive crystal set that my neighbors gave to me for my fortieth birthday. From that day forward, my husband and I agreed

6 to strap down his hands to the armrest on the wheelchair. This may seem dehumanizing, but this method has been recommended by other parents that have been in our predicament. It is inevitable that a special child, such as Wallace, will not receive special public attention. Since Wallace likes going out to the supermarket, mall, and park, he encounters many people. Some kids make sounds like duh or call him a Sped, but I know that my child is no worse off than any of them. Since I home school Wallace, I know his strengths and his weaknesses. Sure, he may not be able to do derivatives, nor know anything about the Quantum Theory, but he has common sense. He was the ability to add, subtract, multiply, and divide, just by movements of his head. He can also recognize certain songs when they are played on the radio. He also can get mad when I punish him and he knows the difference between school mom and ordinary mom. Many people ask me why I home school Wallace. The primary reason for this is that we do not have the money right now. Since the economy is in a recession we do not have the money to enroll him in a private school. In addition, I do not want to enroll him in a regular public school because of all of the social pressures. I figure that I might as well teach him at home because I would have to accompany him to school anyway. Hence, Christopher and I believe that the best method for schooling is home schooling, at least for right now. It is, however, quite possible that I may consider a specialized private school in the years to come. Having a child with LNS can be quite stressful. Raising Wallace is literally a full time job. I have had to make plenty of sacrifices to provide for his numerous needs. For example, I cannot work because we do not have the funds to pay for the nearby special-needs school. I also have to change him as if he were a baby. In addition, I have always wanted another child, but I do not believe that I would be able to give another child the attention that Wallace receives. In

7 the midst of the demanding lifestyle of being the parent of a special child, the rewards are quite apparent. An intimate relationship is probably the best part of having a child like Wallace. How many fathers, or even mothers for that matter, can say that they are as close to their son as I am? I am sure that there are not too many. I have truly learned a great deal about life s preciousness through this experience. I wish that everyone could walk a day in my shoes to see how hard it truly is. Nonetheless, I take pride in my job as well as my son because somebody has to take care of me when I get old and gray! Works Cited Jinnah, Hyder A. emedicine Jan 25. Available from: via the World Wide Web. Accessed 2003 Jan 14. Lesch-Nyhan Page Jan. 31. Available from: NyhanEngl2.htm via the World Wide Web. Accessed 2003 Jan 14. Resource Foundation for Children with Challenges, The. Special Child: Disorder Zone Archives Available from: html via the World Wide Web. Accessed 2003 Jan 14. Lesch- dz- Scriver, Charles R. et. al. Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: Lesch- Nyhan Syndrome and Gout. The Metabolic and Molecular Bases of Inherited Disease 1995; 7.2: Tyler Medical Center, The. Lesch-Nyhan Syndrome Jan 10. Available from: via the World Wide Web. Accessed 2003 Jan 14.