POMC Island...alone
I
have kept this news close to me because it hurts but I have yet to
fully to process it...... I now want to share with you all some not so
good news.
As many of our fans themselves deal with a RARE of their own they may be familiar with the group "Unique" out of the UK. it is a great group and very informative. They have families from all over the globe register their RARE chromosomes and it's a great way to find other families that share the same issues. (I am not a spokesperson for them...)
That being said, as was suggested quite a few times I too send in our info, in the hopes that we may finally connect with SOMEONE. ANYONE. that has POMC. they ask for the basic info which I sent, as well as a picture of the Goober-fish.
this is the first e-mail I got back:
Dear Karen
Many thanks for your email and telling me about Nathaniel – including the gorgeous photo!
If at all possible, would you be able to send a copy of his lab report? Or copy out his diagnosis? I know it is a pain but we are the support group for chromosome disorders but we don’t register families whose child has a single gene disorder. I’m not sure from your email whether Nathaniel has a chromosome deletion of 2p23.3 or is just missing this one gene (known as POMC)? If it is just the gene then we are not quite the right place for you but I can try to find out where would be appropriate for you. I hope that makes sense!
Best wishes
Sarah
and I cried.
this is the e-mail that I sent back:
OH, let me just >insert a TON of tears and swearing< and heartbreak.
everyone in my special needs groups rant and rave about your Organization. and I too think your awesome.
BUT.... this just KILLS me. to be turned away. to be the only case in the USA. alone. >Inserting more swearing< ~~~~
This is part of the letter I got, the Dx --> "This is a letter to inform you.......One of the genes evaluated was the POMC gene A HETEROZYGOUS MUTATION CALLED R236G in the POMC gene was identified in Nathaniel.... The actual report from the lab states ...."Genomic DNA from this individual was analyzed as dexcribed int the metnodology section. this sequence analysis identified a heterozygous c.706c>G change in the POMC gene, which predicted to result in a amino acid substitution of Arginine to Glycine at position 236 (p.R236G)." So I guess to answer your question ..yes his IS a single-point deletion. I have a few scientific studies as well as studies done on mice......I have very little information as there are less than 50 patients in the whole world. I am desperate to find someone...:'(
I created a facebook page in the hopes to find some other family. perhaps if you have other families you have to turn away you could turn them my way and we will be 'Alone together'
thank you SO very much for responding. I appreciate your time. bless you all in the fine work you do.
sincerely
Karen (alone on POMC Island)
I am proud to say that this (to me) looks like it has all the information that she asked for ........PLUS my emotions.
I recently got an answer:
Dear Karen
I completely understand and I feel dreadful for turning you away! I have tried to find some information out for you and where you can go to meet others but all I can find is things that you have posted!
It might be worth contacting Contact A Family (http://www.cafamily.org.uk/). They are a UK organisation but they might be able to help you or have someone registered with the same condition. The only other place I can think of for you to try is SWAN – syndromes without a name (http://www.undiagnosed-usa.org/). It is for families who are undiagnosed which is not quite the right fit for you but as you don’t have anywhere else to go I think that you should be welcomed there!
I’ve kept a record of your details and if I come across anyone else with POMC I will direct them to you.
Best wishes
Sarah
I really do appreciate Sarah's time and efforts to help me.I do.
and I really really do appreciate ALL OF YOU THAT ARE STANDING BY ME AND SUPPORTING ME!!!! BLESS YOU ALL....AND THANK YOU ALL. :*(
~POMC Island~One Boy~an Ocean of Friends~
As many of our fans themselves deal with a RARE of their own they may be familiar with the group "Unique" out of the UK. it is a great group and very informative. They have families from all over the globe register their RARE chromosomes and it's a great way to find other families that share the same issues. (I am not a spokesperson for them...)
That being said, as was suggested quite a few times I too send in our info, in the hopes that we may finally connect with SOMEONE. ANYONE. that has POMC. they ask for the basic info which I sent, as well as a picture of the Goober-fish.
this is the first e-mail I got back:
Dear Karen
Many thanks for your email and telling me about Nathaniel – including the gorgeous photo!
If at all possible, would you be able to send a copy of his lab report? Or copy out his diagnosis? I know it is a pain but we are the support group for chromosome disorders but we don’t register families whose child has a single gene disorder. I’m not sure from your email whether Nathaniel has a chromosome deletion of 2p23.3 or is just missing this one gene (known as POMC)? If it is just the gene then we are not quite the right place for you but I can try to find out where would be appropriate for you. I hope that makes sense!
Best wishes
Sarah
and I cried.
this is the e-mail that I sent back:
OH, let me just >insert a TON of tears and swearing< and heartbreak.
everyone in my special needs groups rant and rave about your Organization. and I too think your awesome.
BUT.... this just KILLS me. to be turned away. to be the only case in the USA. alone. >Inserting more swearing< ~~~~
This is part of the letter I got, the Dx --> "This is a letter to inform you.......One of the genes evaluated was the POMC gene A HETEROZYGOUS MUTATION CALLED R236G in the POMC gene was identified in Nathaniel.... The actual report from the lab states ...."Genomic DNA from this individual was analyzed as dexcribed int the metnodology section. this sequence analysis identified a heterozygous c.706c>G change in the POMC gene, which predicted to result in a amino acid substitution of Arginine to Glycine at position 236 (p.R236G)." So I guess to answer your question ..yes his IS a single-point deletion. I have a few scientific studies as well as studies done on mice......I have very little information as there are less than 50 patients in the whole world. I am desperate to find someone...:'(
I created a facebook page in the hopes to find some other family. perhaps if you have other families you have to turn away you could turn them my way and we will be 'Alone together'
thank you SO very much for responding. I appreciate your time. bless you all in the fine work you do.
sincerely
Karen (alone on POMC Island)
I am proud to say that this (to me) looks like it has all the information that she asked for ........PLUS my emotions.
I recently got an answer:
Dear Karen
I completely understand and I feel dreadful for turning you away! I have tried to find some information out for you and where you can go to meet others but all I can find is things that you have posted!
It might be worth contacting Contact A Family (http://www.cafamily.org.uk/). They are a UK organisation but they might be able to help you or have someone registered with the same condition. The only other place I can think of for you to try is SWAN – syndromes without a name (http://www.undiagnosed-usa.org/). It is for families who are undiagnosed which is not quite the right fit for you but as you don’t have anywhere else to go I think that you should be welcomed there!
I’ve kept a record of your details and if I come across anyone else with POMC I will direct them to you.
Best wishes
Sarah
I really do appreciate Sarah's time and efforts to help me.I do.
and I really really do appreciate ALL OF YOU THAT ARE STANDING BY ME AND SUPPORTING ME!!!! BLESS YOU ALL....AND THANK YOU ALL. :*(
~POMC Island~One Boy~an Ocean of Friends~
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