SWAN COMMUNITY

SWAN Families

Looking to match your child with another that has a similar condition? Try our SWAN Search HERE

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Ohio
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West Virginia
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North Dakota
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Oklahoma
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North Carolina
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North Carolina
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Lorna
Michigan
Undiagnosed 18 Years - Diagnosed June 2014 - DYRK1A gene change - www.dyrk1a.org
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Juliana
Florida
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Myles
Tennessee
ut 6-9mo level), cannot crawl, will not roll over, understands way more than he can communicate, short neck, EEGs have looked normal but he has episdoes every once in a while where he gets quiet & won't respond, respiratory issues, apnea, seems to lose new skills sometimes (used to sign "up" & "dad" & can no longer do this), bottom jaw seems wider than top, large eyes and mouth. We finally get to see a geneticist in September [Read More]
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Lucina
California
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Carson
Virginia
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Texas
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Arizona
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Alabama
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Utah
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Georgia
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Texas
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Delaware
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Wisconsin
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Hawaii
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New York
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Arizona
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Nebraska
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Michigan
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Vermont
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Nevada
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Arizona
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Ohio
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Wyoming
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Wyoming
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New Mexico
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Wisconsin
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Tennessee
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Idaho
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Pennsylvania
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Oklahoma
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Missouri
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Rhode Island
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Maine
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Rhode Island
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Idaho
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Kimberly
California
Kimberly was diagnosed with Marinesco-Sjogren Syndrome at the age of 2, but she does not have a mutation of the Sil1 gene, and is now (at age 24) considered undiagnosed. Her primary symptoms are developmental delay, ataxia, juvenile cataracts, thromobocytopenia, and enamel hypoplasia. We are currently participating in the UDN program at UCLA.
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Connie
Wisconsin
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New York
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Ohio
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South Carolina
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South Carolina
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Florida
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Montana
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California
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South Carolina
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Dorothea
Kansas
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Alaska
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Arizona
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Pennsylvania
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Michigan
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Georgia
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Florida
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Emily
Missouri
Hi! My name is Ellie. My daughter Emily is 5 and has hypotonia, nystagmus, strabismus, a speech delay and concerns of a possible syndrome. Genectic testing isn't covered by are insurance so this has left us with a lot of unanswered questions and stress. Looking to connect with support in hopes to ease the stress in my journey.
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New York
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Connecticut
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Emily
California
I have the condition myself. I was only partially diagnosed until I was 19, and then I was diagnosed with 13 missing genes in the 16p11.2 region.
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Jamie
Texas
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Arizona
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Alabama
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Arkansas
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North Carolina
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Oregon
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Arizona
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Florida
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Illinois
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New York
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Arizona
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Georgia
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West Virginia
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Florida
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Georgia
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Oklahoma
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Annika
North Carolina
Annika has a mutation on one copy of her ARF1 gene. I am trying to find other families with the same mutation.
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Arkansas
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Arizona
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Iowa
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Brantley
South Carolina
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Emma
Michigan
s negative for a diagnosis. [Read More]
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Michelle
Massachusetts
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Robyn
Connecticut
I have a daughter who has a rare genetic disorder which is undiagnosed. The symptoms are muscle and development delay, speech impairment, weakness, excessive drooling, seizures unexplained, problems with walking
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New Mexico
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New York
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Kentucky
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Arizona
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Nevada
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Tennessee
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Jay
New York
I'm 25 years old with a slow-progressing undiagnosed disorder that first presented in early adolescence. Defined symptoms include: splenomegaly, epilepsy with tonic-clonic seizures, hypersolomnence, clumsiness, mood disorder, short term memory loss, raynaud's phenomenon, migraines, vasculitis and neuroleptic malignancy
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Eisley
California
and others believe a genetic mutation is the underlying issue. [Read More]
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Alabama
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Missouri
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Georgia
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North Carolina
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Washington
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Alabama
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North Dakota
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Arizona
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Madelin
South Carolina
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Benjamin, Grayson, Landon
Michigan
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Talon
Missouri
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Joey
Indiana
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Levi
Michigan
Our son Levi is the only one in the world and in medical history with his particular genetic defect in CHD7. They have never seen it before. Our other two children still need genetic testing. There is something genetically wrong with all three of our children. It feels very lonely to be in this place in life. Glad I found this website.
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Colorado
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Washington
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Maine
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Indiana
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Washington
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Montana
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Kenneth
Colorado
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Kent
Iowa
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"Tug"
California
Tug has a 1q21.1 duplication. He has cardiac issues, some left side weakness, autism spectrum, and is brilliant! He's the most remarkable child, and I thank God for every day with him.
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Kina
Colorado
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gavin
Utah
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Abigail
Rhode Island
Our adopted daughter Abigail has a DeNovo mutuation of her SCN8A gene. She is a very social little girl who loves school. We need help in fighting for her rights. We hope to connect with other families in similar situations.
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Michigan
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Timothy
Michigan
Hello, My name is Laura. I'm a Proud Mom to SWAN & CHD Angel, Timothy. Both Tim & I have a Syndrome Without A Name. There is so much to tell and not enough space...but here is our Facebook site address...Please don't be shy in wanting to connect. I'm very open in telling our story and the journey that we've been on. https://www.facebook.com/lt4xtreme
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Carter
Louisiana
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Lavonda
Ohio
Today, I went to the beach front with my children. I found a sea shell and gave it to my 4 year old daughter and said "You can hear the ocean if you put this to your ear." She placed the shell to her ear and screamed. There was a hermit crab inside and it pinched her ear. She never wants to go back! LoL I know this is totally off topic but I had to tell someone!
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Addison
Georgia
Addison has 19p13.3-13.1 duplication. She is 3 years old and cognitively 1. She has apraxia We would love to have any families dealing with this SWAN to contact us. Thank you.
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Arkansas
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Wisconsin
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Arizona
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Wisconsin
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Hawaii
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Massachusetts
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Arizona
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Trent
Nebraska
16 year old son has suffered for almost 8 years. We are full of hope and looking for a diagnosis
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North Dakota
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Georgia
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Washington
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Georgia
When Preslee was 2 years old we noticed the muscle weakness in her legs she would stand up and say my legs feel dizzy and it would take us about 5 minutes to just get out of the car, fast forward she is now 7 years old and has been through test after test and still un-diagnosed. We are still searching for hope.
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Arizona
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Texas
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Arizona
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Pennsylvania
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Virginia
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Massachusetts
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Pennsylvania
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Montana
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Connecticut
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Utah
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