The Issues Nate faces because of P.O.M.C.

Not everyone with POMC has all these issues, This just shows how very special Nate really is:

I've added many links if you want to do extensive research. I have read each and every one and most I've printed out the articles so I can re-read them.



 http://ghr.nlm.nih.gov/condition/proopiomelanocortin-deficiency

How common is proopiomelanocortin deficiency?


POMC deficiency is a rare condition; approximately 50 cases have been reported in the medical literature.

What is proopiomelanocortin deficiency?
Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an early age. In addition to obesity, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin.
Affected infants are usually a normal weight at birth, but they are constantly hungry, which leads to excessive feeding (hyperphagia). The babies continuously gain weight and are severely obese by age 1. Affected individuals experience excessive hunger and remain obese for life. It is unclear if these individuals are prone to weight-related conditions like cardiovascular disease or type 2 diabetes.
Low levels of ACTH lead to a condition called adrenal insufficiency, which occurs when the pair of small glands on top of the kidneys (the adrenal glands) do not produce enough hormones. Adrenal insufficiency often results in periods of severely low blood sugar (hypoglycemia) in people with POMC deficiency, which can cause seizures, elevated levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia), and a reduced ability to produce and release a digestive fluid called bile (cholestasis). Without early treatment, adrenal insufficiency can be fatal.
Pale skin that easily burns when exposed to the sun and red hair are common in POMC deficiency, although not everyone with the condition has these characteristics.

What are the signs and symptoms of Proopiomelanocortin deficiency?



The Human Phenotype Ontology provides the following list of signs and symptoms for Proopiomelanocortin deficiency.

 Signs and Symptoms
**Adrenal insufficiency
**Adrenocorticotropic hormone deficiency
**Autosomal recessive inheritance
**Cholestasis
** Hypoglycemic seizures
**Obesity
**Red hair

This will be a work in progress as I find information I will list them here.... these are the issues that Nate deals with,

Not everyone with POMC shows the same symptoms



***Congenital Hypertonia:
http://en.wikipedia.org/wiki/Hypotonia

Hypotonia is thought to be associated with the disruption of afferent input from stretch receptors and/or lack of the cerebellum’s facilitatory efferent influence on the fusimotor system, the system that innervates intrafusal muscle fibers thereby controlling muscle spindle sensitivity.  On examination a diminished resistance to passive movement will be noted and muscles may feel abnormally soft and limp on palpation.   Diminished deep tendon reflexes also may be noted.
Hypotonia is a condition that can be helped with early intervention.

***Congenital Hypermobiliy:
http://en.wikipedia.org/wiki/Hypermobility

One reason for Hypermobility is
  • A Type 1 collagen or other connective tissue defect (as found in Ehlers-Danlos syndrome, Loeys-Dietz syndrome and Marfan syndrome) resulting in weakened ligaments/ligamentous laxity, muscles and tendons. This same defect also results in weakened bones, which may result in osteoporosis and fractures.
These abnormalities cause abnormal joint stress, meaning that the joints can wear out, leading to osteoarthritis.
The condition tends to run in families, suggesting that a genetic basis for at least some forms of hypermobility. The term double jointed is often used to describe hypermobility; however, the name is a misnomer and should not be taken literally, as hypermobile joints are not doubled/extra in any sense.
Most people have hypermobility with no other symptoms. Approximately 5% of the healthy population have one or more hypermobile joints. However, people with "joint hypermobility syndrome" are subject to many difficulties. For example, their joints may be easily injured, be more prone to complete dislocation due to the weakly stabilized joint and they may develop problems from muscle fatigue (as muscles must work harder to compensate for weakness in the ligaments that support the joints). Hypermobility syndrome can lead to chronic pain or even disability in severe cases.

***Congenital Hypothalamic Disorder

Nate's Hypothalamus does NOT work:
http://en.wikipedia.org/wiki/Hypothalamus

One of the most important functions of the hypothalamus is to link the nervous system to the endocrine system via the pituitary gland.
The hypothalamus is responsible for certain metabolic processes and other activities of the autonomic nervous system. It synthesizes and secretes certain neurohormones, often called releasing hormones or hypothalamic hormones, and these in turn stimulate or inhibit the secretion of pituitary hormones. The hypothalamus controls:
**body temperature
this is important to remember....Going outside in the heat causes heat-stroke and going out in the cold could cause hypothermia ( I say 'could' because this has not really been an issue because we live in Florida)
this is also a dangerous issue because if and when Nate gets sick his temperature skyrockets and crashes BOTH are equally dangerous and send him to the E.R.
**hunger
Yes. hunger....we know ALL about this. Nate was BORN HUNGRY. HE IS HUNGRY ALL DAY EVERY DAY HE WAKES UP HUNGRY AND HE GOES TO BED HUNGRY. THERE IS NO CURE, (yet) HE WILL DIE HUNGRY!

attachment behaviors

**thirst
MUCH LIKE HIS HUNGER HE IS THIRSTY. *Note: this can be a danger as consuming too much water can cause medical issues, ruputred stomach, water toxicity even death. Nate drinks ONLY water and I have to monitor how much.

**fatigue
Nate does get fatigued all the time. we have gotten used to it and just do things at a slower pace.

**sleep
Nate dose NOT have a good sleep pattern. he has yet to sleep the night, but wakes about every 3 hours.
and so we see that his circadian rhythms are irregular.

**Hypothyrioidism:

http://en.wikipedia.org/wiki/Hypothyroidism
Note* for this Nate is on a Hormone-Replacement Therapy of (L-thyroxine) he will have to take this for the rest of his life.

It can cause a number of symptoms, such as tiredness, poor ability to tolerate cold, and weight gain.
The thyroid gland is the only source of thyroid hormone in the body; the process requires iodine and the amino acid tyrosine. Iodine in the bloodstream is taken up by the gland and incorporated into thyroglobulin molecules. The process is controlled by the thyroid-stimulating hormone (TSH, thyrotropin), which is secreted by the pituitary. Not enough iodine, or not enough TSH, can result in decreased production of thyroid hormones.[11]
The hypothalamic–pituitary–thyroid axis plays a key role in maintaining thyroid hormone levels within normal limits. Production of TSH by the anterior pituitary gland is stimulated in turn by thyrotropin-releasing hormone (TRH), released from the hypothalamus. Production of TSH and TRH is decreased by thyroxine by a negative feedback process. Not enough TRH, which is uncommon, can lead to not enough TSH and thereby to not enough thyroid hormone production

**Hypopituitarism

http://en.wikipedia.org/wiki/Hypopituitarism 

(**Note: Nate has ACTH deficieny AND TSH deficiency)

Adrenocorticotropic hormone (ACTH) deficiency leads to adrenal insufficiency, a lack of production of glucocorticoids such as cortisol by the adrenal gland. If the problem is chronic, symptoms consist of fatigue, weight loss, failure to thrive (in children), delayed puberty (in adolescents), hypoglycemia (low blood sugar levels), anemia and hyponatremia (low sodium levels). If the onset is abrupt, collapse, shock and vomiting may occur.[1][5] ACTH deficiency is highly similar to primary Addison's disease, which is cortisol deficiency as the result of direct damage to the adrenal glands; the latter form, however, often leads to hyperpigmentation of the skin, which does not occur in ACTH deficiency.[10]
Thyroid-stimulating hormone (TSH) deficiency leads to hypothyroidism (lack of production of thyroxine (T4) and triiodothyronine (T3) in the thyroid). Typical symptoms are tiredness, intolerance to cold, constipation, weight gain, hair loss and slowed thinking, as well as a slowed heart rate and low blood pressure.
(**Note Nate has some slight pigmentation of the skin, constipation issue and weight gain and hair loss issues
Small and
Additional information. Nate's Hypopituitarism is because his pituitary is '' small and misshaped" so he actually has
**Panhypopituitarism

http://emedicine.medscape.com/article/923789-overview

  Panhypopituitarism is a condition of inadequate or absent production of the anterior pituitary hormones. It is frequently the result of other problems that affect the pituitary gland and either reduce or destroy its function or interfere with hypothalamic secretion of the varying pituitary-releasing hormones. Panhypopituitarism can be the end result of various clinical scenarios. The signs and symptoms are diverse. Manifestations that suggest congenital anterior hypopituitarism include micropenis, midline defects, optic atrophy, hypoglycemia.

The pituitary gland is called the master endocrine gland of the body because it controls the function of other endocrine organs. The anterior pituitary produces the hormones thyrotropin (thyroid-stimulating hormone [TSH]), corticotropin (adrenocorticotropic hormone [ACTH]), luteinizing hormone (LH), follicle-stimulating hormone (FSH), growth hormone (GH), and prolactin (PRL). The anterior pituitary is controlled by specific hypothalamic-releasing hormones. The posterior pituitary produces vasopressin (antidiuretic hormone [ADH]) and oxytocin.

**Adrenal Insufficiency

 http://en.wikipedia.org/wiki/Adrenal_insufficiency
(**Note for this Nate take a Hormone Replacement Therapy of a corticosteroid=  hydrocortisone  and we carry his emergency Solu-Cortef/injectable hydrocortisone with us were ever we go he has to take this steroid  for the rest of his life and there are many factors that make this quite a challenge.) Nate has gone in to Adrenal Crisis several times and has had to be rushed to the E.R.

If not treated, adrenal insufficiency may result in severe abdominal pains, vomiting, profound muscle weakness and fatigue, depression, extremely low blood pressure (hypotension), weight loss, kidney failure, changes in mood and personality, and shock (adrenal crisis)   An adrenal crisis often occurs if the body is subjected to stress, such as an accident, injury, surgery, or severe infection; death may quickly follow.

Adrenal insufficiency can also occur when the hypothalamus or the pituitary gland does not make adequate amounts of the hormones that assist in regulating adrenal function **      This is called secondary or tertiary adrenal insufficiency and is caused by lack of production of ACTH in the pituitary or lack of CRH in the hypothalamus, respectively. 

**PDD/NOS also known as  Autism  Spectrum Disorder


Pervasive developmental disorder not otherwise specified (PDD-NOS) is one of the three autism spectrum disorders (ASD)     and also one of the five disorders classified as a pervasive developmental disorder (PDD)   According to the DSM-IV, PDD-NOS is a diagnosis that is used for "severe and pervasive impairment in the development of reciprocal social interaction or verbal and nonverbal communication skills, or when stereotyped behavior, interests, and activities are present, but the criteria are not met for a specific PDD" or for several other disorders.   PDD-NOS is often called atypical autism,   because the criteria for autistic disorder are not met, for instance because of late age of onset, atypical symptomatology, or subthreshold symptomatology, or all of these.  Even though PDD-NOS is considered milder than typical autism, this is not always true. While some characteristics may be milder, others may be more severe.

**Sensory Processing Disorder


Sensory processing disorders are classified into three broad categories: sensory modulation disorder, sensory based motor disorders and sensory discrimination disorders.[6][7][8]
  • Sensory modulation disorder (SMD) consists of over-responding,     or under-responding to sensory stimuli or seeking sensory stimulation. Sensory modulation refers to a complex central nervous system process     by which neural messages that convey information about the intensity, frequency, duration, complexity, and novelty of sensory stimuli are adjusted.   Subtypes are over-responsivity, under-responsivity and sensory craving (seeking)   This group may include a fearful and/or anxious pattern, negative and/or stubborn behaviors, self-absorbed behaviors that are difficult to engage or creative or actively seeking sensation.  
  • Sensory-based motor disorder (SBMD) shows motor output that is disorganized as a result of incorrect processing of sensory information affecting postural control challenges, resulting in postural disorder, and/or developmental coordination disorder.    
  • Sensory discrimination disorder (SDD), or incorrect processing of sensory information. Incorrect processing of visual or auditory input, for example, may be seen in inattentiveness, disorganization, and poor school performance. Subtypes are: visual, auditory, tactile, taste/smell, position/movement, interoception.  

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