Seeking Medical Guidance for Short Stature and Rare Disorders - Rare Disease

Share to:

Adults with a stature resembling that of children should consult an endocrinologist?


I am currently 44 years old and 131 cm tall.
I would like to apply for a disability certificate.
When I visited the endocrinology department at Taoyuan Hospital, I encountered Dr.
Dong, who questioned the items related to congenital metabolic disorders and rare diseases in the certificate.
He even asked if my short stature could be considered a metabolic disorder and disregarded my height.
Currently, I have not received any assistance in completing the disability assessment.
He stated that only unprofessional doctors would approve my application for the disability certificate, suggesting that only individuals who are 180 cm tall would be considered abnormal.
For the diagnosis of my short stature, he recommended that I go to a medical testing center due to insufficient equipment at Taoyuan Hospital.
I would like to know how to file a complaint against such negligence and lack of compassion from a physician.
Additionally, for someone with my height and body type, which department should I consult to apply for a disability certificate, since the endocrinology department does not handle this? Perhaps this is just Dr.
Dong's personal behavior.

Furthermore, I do not understand my symptoms.
At 44 years old, I am 131 cm tall and weigh 73.7 kg, as measured during my initial registration at Taoyuan Hospital.
1.
For the diagnosis of pituitary growth hormone deficiency and metabolic disorders, which department should I consult? 2.
For rare diseases, which department should I visit? Thank you.

Song, 40~49 year old female. Ask Date: 2012/03/08

Dr. Jian Yingxiu reply Rare Disease


Hello: For height-related issues, please consult the "Pediatric Endocrinology Department" at major medical centers to investigate the underlying causes.
Regarding the disability handbook, under the new regulations, in addition to the diagnosis made by a specialist, the degree of disability must also be assessed by other professionals (such as social workers, psychologists, rehabilitation therapists, etc.) to determine what kind of assistance can be provided.
Thank you.

Reply Date: 2012/03/08

More Info


When seeking medical guidance for short stature and rare disorders, it is essential to navigate the healthcare system effectively, especially when faced with challenges such as unhelpful or dismissive healthcare professionals. Your situation, where you are 44 years old and stand at 131 cm, raises several important considerations regarding diagnosis, treatment, and the application for disability benefits.

Firstly, it is crucial to understand that short stature can result from various underlying conditions, including hormonal imbalances, genetic disorders, or metabolic issues. In your case, the mention of "13 - congenital metabolic disorders" and "14.18 - rare diseases" in the context of your application for a disability certificate indicates that your healthcare provider should consider these factors seriously. However, it seems that the physician you encountered at the endocrinology department did not take your concerns seriously, which is unfortunate.

To address your immediate needs, it would be advisable to seek a second opinion from another endocrinologist or a specialist in metabolic disorders. Look for a medical center that has a reputation for dealing with rare diseases or genetic conditions. A pediatric endocrinologist might also be helpful, even at your age, as they often have more experience with growth disorders. They can evaluate your growth hormone levels and assess whether there are any deficiencies or abnormalities that could explain your short stature.

In terms of applying for a disability certificate, it is essential to gather comprehensive medical documentation that supports your case. This includes any previous medical records, test results, and a detailed account of how your height affects your daily life. If the endocrinologist you consult is knowledgeable and empathetic, they should be able to assist you in filling out the necessary forms and providing the required medical justification for your application.

If you feel that the physician you initially consulted was unprofessional or dismissive, you have the right to file a complaint with the hospital or medical institution. Most healthcare facilities have a patient advocacy department or a formal complaint process. Document your experience, including dates, times, and specific interactions, to provide a clear account of your concerns.

Regarding your specific questions about which department to visit for your conditions:
1. For growth hormone deficiency or metabolic disorders: You should continue to see an endocrinologist. If the current facility is inadequate, consider seeking a referral to a specialized center that focuses on growth disorders or metabolic conditions.

2. For rare diseases: A geneticist or a specialist in rare diseases would be appropriate. They can conduct genetic testing and other evaluations to determine if there is an underlying genetic condition contributing to your short stature.

In summary, navigating the healthcare system can be challenging, especially when dealing with rare disorders and the stigma associated with short stature. It is vital to advocate for yourself, seek second opinions, and find healthcare professionals who are willing to listen and help. By doing so, you can better manage your health and work towards obtaining the necessary support and documentation for your disability application.

Similar Q&A

Can Rare Growth Disorders Be Treated? Understanding Medical Options

Hello, doctor! If a person has a condition that prevents them from growing taller forever, and has been subjected to unusual looks or ridicule since childhood... this condition can indeed cause significant stress. Is there any emergency treatment or assistance available in curren...


Dr. Hou Jiawei reply Rare Disease
There are many reasons for not growing taller, but medical interventions can still offer opportunities for help: 1. Administration of growth hormone 2. Specific oral medications 3. Limb lengthening surgery. The first two options require that there is still growth plate space, whi...

[Read More] Can Rare Growth Disorders Be Treated? Understanding Medical Options


Addressing Rare Disease Concerns: Support for a Child's Developmental Challenges

Dear [Doctor's Name], I hope this message finds you well. I would like to express my gratitude for your care during my daughter Li Qi's hospitalization from August 25 to 27. She has now recovered. I am reaching out to see if you recall your observations regarding her ...


Dr. Xu Shanjing reply Rare Disease
Constitutional delay may often be due to a smaller stature, resulting in poorer physical abilities. However, it can be improved through training. Café au lait spots (whether they require only observation, treatment, or specific precautions) can only be managed cosmetically; they ...

[Read More] Addressing Rare Disease Concerns: Support for a Child's Developmental Challenges


Understanding Growth Disorders in Children: Causes and Solutions

Dear Dr. Jian, My son is a sixth grader and stands at 179.5 cm tall. While many parents would be pleased with such height, he has several concerning issues that I would like your advice on regarding management or further medical evaluation. 1. He is prone to fractures; for inst...


Dr. Jian Yingxiu reply Rare Disease
In this situation, in addition to parathyroid issues, it may be necessary to consider structural abnormalities of the bones or other congenital metabolic disorders. It is recommended that you bring your previous test results and promptly visit a genetic counseling clinic at a med...

[Read More] Understanding Growth Disorders in Children: Causes and Solutions


Understanding Growth Delays: A Guide to Rare Diseases in Children

Hello Dr. Hou, my daughter is currently one year and six months old, weighing 7.7 kg and measuring 73 cm in height, with a head circumference of 42 cm. She is not crawling, walking, or saying "daddy." Last year, due to developmental delays, we consulted a neurologist wh...


Dr. Hou Jiawei reply Rare Disease
At 18 months of age, the child's growth parameters show a weight of 7.7 kg, height of 73 cm, and head circumference of 42 cm, indicating growth retardation and microcephaly. Additionally, there are concerns regarding delayed motor and language development, poor appetite, and...

[Read More] Understanding Growth Delays: A Guide to Rare Diseases in Children


Related FAQ

Height

(Rare Disease)

Congenital Metabolic Disorders

(Rare Disease)

Muscular Diseases

(Rare Disease)

Neurology

(Rare Disease)

Rare Disease Treatment

(Rare Disease)

Tourette Syndrome

(Rare Disease)

Ichthyosis

(Rare Disease)

G6Pd Deficiency

(Rare Disease)

Osteogenesis Imperfecta

(Rare Disease)

Whole Exome Sequencing

(Rare Disease)