Description of Nasra’s condition
Nasra, aged six, is a girl of Indian descent and the first born in a family four. Her only brother, Patel is aged four and has had a normal growth devoid of any serious health conditions. Patel helped me to draw out comparisons that established Nasra’s condition. When Nasra neared, I noticed some odd-looking features on her flawless face. She had a broad flat nasal bridge and an exceptionally high forehead. Her eyes were widely spaced and noticeably protruding and she also has a downward mouth. Her head and chin were also smaller than normal. When I enquired her name and age she responded with simple sign language because she does not talk. She uses sign language for simple expressions such as “more” and “please”. At 6 years of age her body looked smaller than usual in comparison to her brother. Although she liked being near people, her communication, verbal and language skills were noticeably weak. She also walked with some considerable difficulty and I later learnt that she began walking when she was 4 years old. The little girl also suffered occasional seizures. Going by my observations Nasra’s condition was a birth condition known as Wolf Hirschorn Syndrome .
Nasra’s Disease process (pathophysiology)
Upon enquiry into Nasra’s medical history, I learnt that she had been diagnosed with the second category type of Wolf-Hirschhorn syndrome where she is classified as having significantly average 4-p deletion in which she lost 5-18 Megabases (Mb) of some genetic material leading her to develop a recognizable Wolf-Hirschhorn syndrome phenotype. This means that during her formation, Nasra suffered deletion of the distal short arm of chromosome 4. The terminal band (4p16.30 was deleted in full and hence her visible symptoms and especially the bodily shortcomings. Has she suffered from a small deletion (≤3.5 Mb) she would be suffering from a mild phenotype of the disease without there being multiple malfunctions . Moreover, had she suffered from severe deletion exceeding 22–25 Mb, her condition would be more severe and it would not be classified as Wolf-Hirschhorn syndrome.
General information
Nasra’s condition typifies Wolf-Hirschhorn syndrome. On average more girls than boys tend to suffer from the condition. Many of those who suffer from the condition, actually 90% of all patients suffer the second category marked by significant deletion of critical genetic material leading them to have visible malformations and malfunctions. Nasra was my first case to encounter about the disease though I had read widely about it. She was unlucky to have been among the few people with the condition. Statistics show that Wolf-Hirschhorn syndrome is prevalent in 1 out of 50,000 births`.
Signs and symptoms
In my estimation Nasra exhibited about 90% of all the symptoms of the Wolf-Hirschhorn syndrome. She had characteristic facial appearance, significant intellectual disabilities, suffered from seizures and her growth and development was significantly delayed going by her age. To begin with, Nasra had a broad, flat nasal bridge and a high forehead a combination commonly known as “Greek warrior helmet”. Though, the ears of many patients tend to be significantly small, Nasra’s ears appeared normal. Her eyes were spaced and protruding and although she did not have a cleft palate like many other patients, the distance between her nose and upper lip was significantly small. Her mouth was downturned as is the case with many patients although her head was small (microcephaly) which is a sign of the disease.
Nasra’s slow response to simple questions showed that her intellectual abilities were slowed while her verbal, language and communication skills were also weak. Incidentally, Nasra was very social and liked to engage me in some play though I was a stranger to her. Contrary to the skins of many patients which look dry or mottled, Nasra has a smooth skin and only a few missing teeth. Evidently Nasra in comparison to her younger brother exhibited a characteristic sign of Wolf-Hirschhorn syndrome. She was visibly weak and small bodies as a result of problems with her feeding and weight gain.
Nasra’s Physical limitations
Nasra had limited walking and standing capabilities due to weak muscles and legs. She could only walk about unaided though her parents attested that she was improving having delayed her walking until she was four. Her hands were also strong and she could hold a spoon, pen and toys. Nasra’s physical limitations were a significant hindrance seeing that she could not play well with her vibrant younger brother or take proper care of herself such as visiting the toilet.
Treatments (feeding, braces, walking)
Nasra’s has learnt to feed herself independently with encouragement and praises but staff at school and parents at home are trying to wean her off from the high enthusiastic praises to a normal good job. Her appetite is still weak and she still requires supplemental feeding with a g-tube device that is surgically placed. She has learned to walk independently with time but she wears a pink helmet with a large pink flower on it to protect her because she can have seizures and falls. In all, Nasra is social and very bright.
She undergoes physiotherapy classes for five hours every. She is also on a high calcium diet including prescribed calcium supplementation to help her gain strength in her bones. Moreover she is reliant on supplemented appetizers to boost her appetite and help her gain weight.
Medication table
There is no specific medication that Nasra can use to alleviate her condition although the symptoms can be dealt with using different means such as therapy and medications. The main medication that Nasra uses apart from the supplements is clonazepam to treat her seizures.
Nasra’s Psychological abilities and issues
Nasra suffers from significant psychological challenges although in her earlier years she has dealt with significant ones and overcome them to a great extent. Nasra difficulties in speaking and expressing herself have affected her emotions and reactions. Though she is ordinarily vibrant and social, when she faces difficulty in expressing herself, she recoils and spends time alone. She appears in deep thought when unable to communicate. She also has some intellectual challenges as evidenced by her difficulty in remembering her name and age. These psychological issues have lessened as she grows older and going by her parents’ assertion, Nasra is in a better position psychologically. Her social skills have become bolder and she can ask for clarifications when she has either not heard clearly and when she wants to contribute to an interesting topic.
How Nasra interacted with the teachers, aides and class
Nara has improved her relations with teachers in her special school. She loves interacting with her physiotherapist and likes being teased on how smart or beautiful she is every time they meet. Recently she has become more playful with her brother as her physical and psychological challenges continue to diminish. In addition, she has added to her list of friends in school and enjoys their company more than she did some time back. In all Nasra’s condition is getting better though she will need to overcome some timidity that still resides in her because she is becoming aware that she has a special condition and is not like completely like other children.
How I related to Nasra
Nasra being a social child, I related well with her. In the first 20 minutes of our encounter she refused to come to me and looked fearful. However, after some reassurance, some smiles and presentation of a gift I had for her, she warmed up to me and liked me a lot. She tried her best to respond to my chat and was extremely happy when I understood what she had expressed though sign language. I liked her boldness and determination to engage me in a coloring lesson she was having.
Culture information
Nasra being an Asian of Indian descent comes from a family with cultures deep-rooted in religion- Hinduism. Her family is close-knit and her relatives from her larger family are all very concerned about her condition. Some have tried to find fault in the parents for the condition of the child claiming it as punishment for some wrong doing. Though the family does not believe in such culturally and religiously-biased allegations they have tried out some non-conventional treatment methods such as exorcism and Nasra to no avail. I need to get the parents fully on board to address Nasra’s condition from a scientifically proven point of view such as trying out speech therapies, physiotherapies, medications to deal with emergent illnesses among others. The elimination of guilt on the part of the parents will help them become the key motivators of their daughter.
References
Battaglia. (2012, May). Wolf-Hirschhorn syndrome. Retrieved March 12, 2016, from http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=280
Battaglia A, C. (2000). Update on the clinical features and natural history of Wolf Hirschhorn syndrome (WHS): experience with 48 cases. American Journal of Human Genetics. , 67:127.
Genetics Home Reference. (2016). Wolf-Hirschhorn syndrome. Retrieved March 12, 2016, from https://ghr.nlm.nih.gov/condition/wolf-hirschhorn-syndrome
Kerzendorfer C, H. F. (2012). Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome. Human Genetics Journal, 2012;21:2181–93.
Misceo, D., Barøy, T., Helle, J., Braaten, O., & Fannemel M, F. E. (2012). 1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development. Gene. . 507:85–91.
Wieczorek, D. (2003, September). Wolf-Hirschhorn syndrome . Retrieved March 12, 2016, from Orphanet: https://www.orpha.net/data/patho/GB/uk-WHS.pdf
