A printed copy (or full pdf version via email) with more information, stories and photos is available by paid membership only. See below for details. 

Emanuel Syndrome News:

Atle, one of our group's coolest members from North Carolina,  would like to update you on two things: 

Firstly, Dr. Beverly Emanuel and colleagues have completed an entry on Emanuel Syndrome for a genetic database called GeneReviews. 

 To access the Review on the live Web site, CLICK HERE.

Thank you SOOO much to Dr. Beverly Emanuel, Dr. Elaine Zackai, and Livija Medne for their work on this. We are really making a move on getting our previously “unheard of” disorder more accessible to families and their care providers!

Secondly, many of you are already aware that our group will be beginning a survey of families with children affected by Emanuel Syndrome, and also balanced 11/22 carriers. This will be in conjunction with geneticists at The Children’s Hospital of Eastern Ontario in Ottawa, along with Dr. Emanuel and Dr. Zackai. A draft survey should be ready for review soon and I hope to be in touch with you all shortly.

And please don't forget to send Stephanie pictures and stories for the fall (PLEASE!) to steph.stpierre@gmail.com. The complete 8 page version of our newsletter with more photos and stories of members will be sent to paid subscribers shortly. If you wish to be a paid member and receive our complete newsletter, see below for details :)

I hope all of you have a wonderful summer!

Signed Atle :)

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PLEASE take a moment out and fill in a copy of the membership form on our website: http://www.nt.net/a815/memform.pdf  . I have changed it to include a signature. EVEN IF you are a current, active member of the group, please submit a signed form. Don’t worry about the membership fees right now unless you can afford to pay or have already paid (we would appreciate it however and we are running a little low in the funds department!) – right now, the most important thing to me is getting our database current. I will be happy to take a faxed or scanned SIGNED form, to save you the postage.  

Don't forget that a complete newsletter available by regular mail (or full .pdf version electronically), which includes family stories, is available by paid membership only (see below to become a paid member).  

C22C's ANNUAL GENERAL MEETING

will be held at our Canadian Head office

Saturday, July 28, 2007 at 4 p.m.

RECENTLY RELEASED JOURNAL ARTICLES

Please visit the reference page of our website for updated listings of articles on:

• 22q11 Deletion

• 22q11 Duplication

• 22q13 Deletion (Phelan-McDermid Syndrome)

• Cat Eye Syndrome

An inspiration - introducing Lindsay Larson

My life started in turmoil. My first breath was hard; it hurt. I didn’t know how to suck, and therefore had a difficult time feeding. I lost two pounds in the first month of my life and was only 5 pounds 15 ounces to start with. I was also plagued with constant pneumonia and had a vein wrapped around my artery, causing a block in flow. February 27, 1982 I came into the world in Rochester, Minnesota, with good reason.

Mayo Clinic was and is to some extent known the world over for their famous medical treatments and cutting edge research. My parents felt confident about having me there at one of the best facilities in the world. The doctors did not, however, know what was wrong with me. They couldn’t figure it out. This made my parents more frightened because they thought that nobody could help. Then the doctors who were on my case called in a retired pulmonary specialist and told the other doctors that I would need two surgeries by the time I was five. So, at eighteen months I had my first, a vascular ring repair. The second, before the start of kindergarten, I had a portion of my right lung removed due to the black scarring that occurred because of the frequent bouts of pneumonia. My parents thought that was the end of it. However, I still had pneumonia each year after until I was around eleven.

  At twelve years old I couldn’t get out of bed. I had suicidal thoughts and even attempted suicide at fourteen because I couldn’t function properly. I had such fatigue each day that it was impossible at times to go to school. I was misdiagnosed with clinical depression at fourteen due to the suicide attempt. Then I went to an Endocrinologist to see about my height, he said I wouldn’t grow any taller (I was and am still 4’ll) but he ordered three tests out of concern.

The first test was something he called VCFS, or Velo-Cardio Facial Syndrome. This was something I had never heard before, and he said it was genetic. The second test was a hemoglobin test to see if I had anemia, and the third was a test for hypothyroidism, which could be the reason behind the extreme fatigue. The three tests came back positive. I had VCFS, which was causing my earlier respiratory problems, among everything else. The hemoglobin was dangerously low at 5.6 when it should have been at 11 or 12. My thyroid was also low. I don’t remember the levels of that at the time, but they were low enough to actually cause my depression. Once I was able to get my levels for my thyroid back to normal, I was no longer depressed, and am still not to this day. My iron levels are pretty well normal because, despite the risks, I got liquid Ferrous Sulfate injections at nineteen years old. Knowing the VCFS diagnosis though was scary to me.

The acronym VCFS did not make sense, and I later found out that most likely neither parent had the gene to cause this. I didn’t know what this meant for my future, if more health issues would arise because of it. I didn’t know anybody with VCFS so I couldn’t compare my issues with others, and my parents couldn’t cope well because they had never heard of this either. My sister turned out fine, so what was the cause behind this? I just didn’t know, and don’t think I ever will.

Now, I am twenty-five years old. I have a full-time job and just received a promotion as a Support Desk Coordinator. I also go to school part-time at MSU in Mankato. My GPA is currently 3.5. I’m currently majoring in the English Technical Communications program with a minor in Computer Science. This is a tremendous accomplishment as I barely finished high school on time seven years ago. My medical bills are almost paid off and I am now happily married to a man I’ve been with for seven years. I’m not sure what the future holds for me now with my new family, but then again nobody knows their future. Do I have goals and dreams? Sure I do. I hope to have children that I can love and cherish, but I am now equipped to handle what may come my way with the knowledge I’ve learned from becoming informed. My dream job would be to write a novel about this and other experiences, as I’ve already had so many, and be a motivational speaker to parents affected by this and other pediatric health issues. The future is bright for me, and anybody else despite the health issues that might affect us.

Lindsay Larson, Mankato Minnesota

'DO IT FOR DANE': FAMILY READY TO CLIMB
MT. KILIMANJAR0 TO BENEFIT 22q13 FOUNDATION

In May, a team of climbers will travel to Tanzania in Africa to climb Mt. Kilimanjaro in honor of Dane Basher (age 7) who was born with 22q13 Deletion Syndrome. Dane is the son of Cern Basher and Cindy Dulaney.  Cern is organizing the climb and his dad, Nolan Basher, and friends Wendy Rogers and Dan Fisk will be climbing with him. The team of four climbers will be joined by a group of experienced guides and porters from Tanzania. The purpose of the climb is to raise money for the 22q13 Deletion Foundation.  So far, the group has raised more than $18,000.

“Our son Dane is not yet able to speak or walk independently, but he works hard everyday to learn to do those things,” Cern said. “In the local Wachagga dialect, the name of the mountain is Kilima-Ngiaro, meaning the ‘journey which has no ending.’ Dane bravely faces this journey. Dane has inspired his grandfather, our friends Wendy and Dan and me to do this climb and push ourselves to achieve heights we’ve never obtained. If Dane can make this effort each and every day, then we can certainly climb this mountain. We have no lack of motivation. Our motto for the climb is ‘Do it for Dane.’ And, we will.”  The goal of this climb is to raise money for the 22q13 Deletion Foundation. Information about Dane’s condition and donating can be found online at www.22q13.org and credit card donations are being accepted at www.firstgiving.com/climbkili.  

Sincerely, The Board of Directors,  22q13 Deletion Foundation

C22C Inc. is a registered Federal Non-Profit Organization, with charitable status in Canada. Canadian donations will receive a tax receipt.

C22C Inc. (USA) is registered and currently awaiting non-profit status. We are grateful for all donations which help keep us operating! Thank you to those of you who have supported us in the past with your generosity.

If you can afford to, offer to pay a yearly membership fee. This will entitle you to a subscription to TOGETHER, which is no longer distributed on-line. It costs money to print, post, maintain our website as well as other expenses. Our suggested membership dues are:

Families 1 year - $15, 2 years, $27, 3 years, $35. Either US funds for US/International Members, or Canadian funds for Canadian members. PLEASE SEND MEMBERSHIP FEES TO OUR CANADIAN ADDRESS or use PAYPAL - link located on our website. 

For donations from US members only, please submit them to our US Head Office.

We have been operating for years with no mandatory fees. Please help us continue to operate and grow! Additional donations are tax-deductible and a tax-receipt will be provided. Free memberships will include as always, being listed with our network database of families, and free C22C NewsAlerts via email, offering info on upcoming events and research.