What is POMC??
My son Nathaniel has POMC he is the ONLY known person in the USA with it....
(there are less than 50 cases known in the world)
Pro-opiomelanocortin Deficiency Disorder is Rare, it is considered a 'Rare/Orphan Disease'
POMC affects the second chromosome
= 2p 23.3
Molecular Location on chromosome 2: base pairs 25,383,721 to 25,391,558
to be exact
Not every person that has POMC will or does have all the same issues.
BUT
This is what Nathaniel deals with because of POMC =
extended linear growth
and congenital hyperphagia (insatiable hunger)~a life threatening issue
and congenital secondary adrenal insufficiency ~considered rare~another life threatening issue
and congenital hypothyroidism~considered rare~ and yet another life threatening issue
and congenital hyopituitaryisum~considered the 'brain' of all endocrine glands
and congenital hypothalamus disorder~he is unable to control his body temperature~an yes, another life threatening issue
and Early Onset Morbid Obesity~you know it...another life threatening issue
and PDD/NOS and yes he presents with many Autistic tenancy
and low muscle tone (hypotonia)
and infantile seizures (which have resolved)
and metabolic disorder
and severe obstructive sleep apnea
and Immune deficiency
and sensory processing disorder
and tricohotillomania (skin picking)
and Macrocephaly
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
He was born 6' 15oz and 20"
2 pm August 1st 2008
He was weak and floppy.
He had a dangerously high bilirubin count
He was hungry.
he still is.
He cried all the time
He did not sleep
He did not hold his head up when he should have
nor did he sit on his own when you would expect a baby to.
He did not crawl, he rolled, and that was not until 16 months old.
AND
Nathaniel was
born hungry......
he still is.
He started growing too fast, by the time he was 10 months old his 'age appropriate' clothes no longer fit.
He could not sit in the johnny jump-up or the new walker..he was too weak
He could no longer fit into the baby carrier... he was too big
THEN
He underwent some genetic testing......
we found out why....
Why
he is so big,
why
he cries,
why
he is hungry,
why
he is so sick
and because this is genetic there is
NO CURE
NO TREATMENT
He did not stand until he was 2.
He did not walk until after his 3rd birthday.
His speech is still difficult for many to understand.
He still does not sleep the night.
He had a sleep study done, we found out that he has Severe Obstructive Sleep Apnea (OSA)
He will need a C-pap to breath for him at night.
He may need his tonsils out, he may need tubes in his ears.
He needs braces on his feet to help him stand.
He uses a wheelchair for outings.
He is still hungry.
His Immune system is compromised and that means he catches every thing that goes around EVERY time it goes around. and he will catch it again when it comes back around. every time.
a simple tummy bug with vomiting can and will put him in the E.R. because it becomes life threatening.
Every day he takes medicine for his Thyroid, and his Adrenal Glands.
In the summer he cannot be out in the heat because of his Hypothalmus, (temperature regulator of the body) and when he does he MUST wear his cooling vest AND still he has to be careful not to get too hot, he can get heat stroke in as little as 2 hours outside.
He also 'Picks' his skin. this means that sometimes for some unexplained, unknown reason he digs at his healthy looking skin until it bleeds and has been known to continue this for days and weeks. He has scars that look like pox-marks on his for-arms and legs. He has even picked several times on his face.
He will not keep a band-aid on.
He also takes= vitamin D, Co-Q 10 and Omega 3 as well as Zinc and Lev o-carnitine (that is an Amino Acid) because of his strict diet he just cannot get all the nutrients his body needs.
(there are less than 50 cases known in the world)
Pro-opiomelanocortin Deficiency Disorder is Rare, it is considered a 'Rare/Orphan Disease'
POMC affects the second chromosome
= 2p 23.3
Molecular Location on chromosome 2: base pairs 25,383,721 to 25,391,558
to be exact
Not every person that has POMC will or does have all the same issues.
BUT
This is what Nathaniel deals with because of POMC =
extended linear growth
and congenital hyperphagia (insatiable hunger)~a life threatening issue
and congenital secondary adrenal insufficiency ~considered rare~another life threatening issue
and congenital hypothyroidism~considered rare~ and yet another life threatening issue
and congenital hyopituitaryisum~considered the 'brain' of all endocrine glands
and congenital hypothalamus disorder~he is unable to control his body temperature~an yes, another life threatening issue
and Early Onset Morbid Obesity~you know it...another life threatening issue
and PDD/NOS and yes he presents with many Autistic tenancy
and low muscle tone (hypotonia)
and infantile seizures (which have resolved)
and metabolic disorder
and severe obstructive sleep apnea
and Immune deficiency
and sensory processing disorder
and tricohotillomania (skin picking)
and Macrocephaly
~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~
He was born 6' 15oz and 20"
2 pm August 1st 2008
He was weak and floppy.
He had a dangerously high bilirubin count
He was hungry.
he still is.
He cried all the time
He did not sleep
He did not hold his head up when he should have
nor did he sit on his own when you would expect a baby to.
He did not crawl, he rolled, and that was not until 16 months old.
AND
Nathaniel was
born hungry......
he still is.
He started growing too fast, by the time he was 10 months old his 'age appropriate' clothes no longer fit.
He could not sit in the johnny jump-up or the new walker..he was too weak
He could no longer fit into the baby carrier... he was too big
THEN
He underwent some genetic testing......
we found out why....
Why
he is so big,
why
he cries,
why
he is hungry,
why
he is so sick
and because this is genetic there is
NO CURE
NO TREATMENT
He did not stand until he was 2.
He did not walk until after his 3rd birthday.
His speech is still difficult for many to understand.
He still does not sleep the night.
He had a sleep study done, we found out that he has Severe Obstructive Sleep Apnea (OSA)
He will need a C-pap to breath for him at night.
He may need his tonsils out, he may need tubes in his ears.
He needs braces on his feet to help him stand.
He uses a wheelchair for outings.
He is still hungry.
His Immune system is compromised and that means he catches every thing that goes around EVERY time it goes around. and he will catch it again when it comes back around. every time.
a simple tummy bug with vomiting can and will put him in the E.R. because it becomes life threatening.
Every day he takes medicine for his Thyroid, and his Adrenal Glands.
In the summer he cannot be out in the heat because of his Hypothalmus, (temperature regulator of the body) and when he does he MUST wear his cooling vest AND still he has to be careful not to get too hot, he can get heat stroke in as little as 2 hours outside.
He also 'Picks' his skin. this means that sometimes for some unexplained, unknown reason he digs at his healthy looking skin until it bleeds and has been known to continue this for days and weeks. He has scars that look like pox-marks on his for-arms and legs. He has even picked several times on his face.
He will not keep a band-aid on.
He also takes= vitamin D, Co-Q 10 and Omega 3 as well as Zinc and Lev o-carnitine (that is an Amino Acid) because of his strict diet he just cannot get all the nutrients his body needs.
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