My name is Jen and my son Jack has a condition that is happens to one in a 11 million people!  Jack has Phelan-McDermid Syndrome (PMS) and Chromosome 22 Ring.

Phelan-McDermid Syndrome (PMS) is a genetic syndrome caused by disruption of the SHANK3/ProSAP2 gene on the terminal end of chromosome 22. The most common form of PMS is caused by a de novo chromosomal deletion. For this reason the original name for PMS was 22q13 deletion syndrome.

There is a wide range of severity of symptoms observed in people with the Phelan McDermid Syndrome, but most exhibit moderate to severe developmental delays, physically and intellectually, but especially in speaking and communicating. Very low muscle tone is a common trait of the syndrome, and many kids with PMS have problems with eating, sleeping and emotional stability.

 

 

5 thoughts on “Rare Conditon Called Phelan McDermid Syndrome and Chromosome 22 Ring Makes Jack A One in 11 Million Child”

  1. Tessa says:

    Hello my name is Tessa. I am from holland, my daugther has also a ring chromosome and 22q13 deletion. In holland I know now 3 kids with this combination, Kelsey can speak very well, has epilepse,
    My english is not so good but i am very curious about your boy.

    Greeting from Tessa and Kelsey

  2. Sarada says:

    Hi Telsa,

    My name is sarada. My 20 month old daughter diagonised 22q13. She is not talking yet . She is walking. She is going to all therapies ( speech, occupational, physical).can you please tell me more about your daughter. I live in America but iam Indian origin.

    Sarada

  3. swetha says:

    HI Sarada,
    we are also Indian origin living in america, we have 2 month old who was diagonised with phelan macdermid. can you please tell us how is ur daughter doing ?

  4. Fawn says:

    Hi,
    Just got the diagnosis today. My daughter is 1. Looking for support and maybe just a friend.
    Thanks

  5. Donna says:

    Hi
    My son of 6 has Phelan-McDermid syndrome and awaiting to find out if my youngest has it, my oldest has autism and epilepsy my youngest is being assessed for autism, my oldest has a few issues with genes and chromosomes has anyone else children/child got multiple gene issues as we have been told my eldest has a two within the unc 80 gene as well as reln and another gene, just wondering is this common genes to have issues with along side chromosome 22 10 and another one? There isn’t much information here in Scotland any information much appreciated 🙂

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