CHROMOSOME 22 CENTRAL 
SUPPORT FOR ALL CHROMOSOME 22 RELATED DISORDERS 

We are all about connecting! 
Click here for an online membership form to JOIN US!  
Registered members receive our newsletter and can choose to be listed in our parent registry.

C22C is a parent driven group with more than 1000 members in 45+ countries. 

HOME | EVENTS | RESEARCH | NEWS | LINKS | PRIVACY POLICY | DISCLAIMER

CLICK HERE FOR E-MAIL SUPPORT LISTS  

MESSAGE BOARDS

• Trisomy 22 and Rare C22 Disorders

• Cat Eye Syndrome 

• 22q Deletions

FACEBOOK GROUP

MEMBERSHIP FORM

C22C INTERNATIONAL PARENT CONTACTS

LEARN ABOUT

• Chromosome 22 Central

• 22q11 Deletion Syndrome (DiGeorge Syndrome, Velocardiofacial Syndrome)

• Microduplication 22q11 Syndrome

• The 11/22 Translocation (Emanuel Syndrome, partial trisomy 11/22)

• 22q13 Deletion Syndrome (Phelan-McDermid Syndrome)

• Cat Eye Syndrome

• Complete or Full Trisomy 22

• Mosaic Trisomy 22

• Chromosome 22 Ring

• Monosomy 22 Mosaicism 

• Unique Chromosome 22 Disorders

• Books

 DOWNLOAD A .PDF COPY OF OUR BROCHURE - SPREAD THE WORD!

Chromosome 22 Central Inc. is a registered Canadian Non-Profit Organization 
and Registered Charity BN# 86009 3665 RR0001, and a Registered US Corporation with Non-Profit Status

Alyssa

DOB:  April 24, 2007
Became an angel on October 1, 2007

Unbalanced 11/22 translocation (Emanuel Syndrome)

After an uneventful pregnancy except for swollen feet in my second trimester, I had many appointments with the Perinatal Center for the last trimester due to the baby being a little on the small side. I had to go every month for ultrasounds and Blood Flow Studies. During my eighth month they had me coming every week and the day before the baby was born I was in for a Non-Stress Test which didn’t have good results. The doctors then performed a Biophysical Profile which in turn wasn’t very good either. The baby was not moving much and having trouble breathing they then proceeded to induce my labor. Alyssa Leigh was born on April 24, 2007. She weighed 3lbs 2oz and was 33 wks gestation. Alyssa was in immediate respiratory distress and was put on a ventilator for the first few weeks. 

When Alyssa was 7 days old she was diagnosed with Emanuel Syndrome , partial 11/22 which really scared us . My husband and I didn’t know what to expect of her now. At 2 wks old Alyssa developed NEC (necrotizing enter colitis) a severe bowel infection and had to have emergency surgery to remove the infected bowel. She was given a very poor prognosis due to the fact she was left with 25 cm of bowel. Our little fighter proved the doctors wrong. 
On June 20th Alyssa had to have surgery for PDA (Patent Ductus Arterious) which she recovered from well. She did well after this surgery. Due to the fact that she was having aspiration episodes through feeds the doctors decided to proceed with surgery on July 12 for Fundoplication, G-tube and Enterostomy.

Then in the beginning of September the doctors spoke to my husband and I because they were planning on sending her home or to a Ranken Jordan Pediatrics hospital. Alyssa would have needed around the clock care due to her not being able to eat by mouth or take a bottle. Since the day she was born she relied on TPN (total parental nutrition) which in turn damaged her liver. 

Unfortunately, Alyssa never made it home because had recurrent yeast sepsis that developed and never was able to recover from that. She had a broviac catheter replaced on September 28 which was her last surgery. Alyssa stayed on the ventilator after surgery and decided to remove it herself on Sunday September 30th the day before she died. My daughter may have been very sick but she was a true fighter. 

On October 1st , 2007 Alyssa died in my husband’s arms at the hospital. It was the hardest thing that we ever had to go through but we now have an Angel in heaven. My husband and I are grateful for the 5months we got to spend with her she taught us so much. It was tiring at times but you we have to be there for our babies. If Alyssa wouldn’t have been born we wouldn’t have known about this disease. 

HEAD OFFICE - for ALL inquiries: Chromosome 22 Central, c/o Stephanie St-Pierre, 338 Spruce Street North, Timmins, Ontario, Canada P4N 6N5 tel: (705) 268-3099, EMAIL:  steph.stpierre@c22c.org or steph.stpierre@gmail.com

  US Head Office - for US donations: Chromosome 22 Central, c/o Murney Rinholm, 7108 Partinwood Drive, Fuquay-Varina, North Carolina, 27526  USA, tel (919) 567-8167, EMAIL: murney.rinholm@c22c.org 

  Latin America / Spanish inquiries - Laura Munoz, Robinson Crusoe 1209, Las Condes - Santiago, Chile tel: 02-3251262 EMAIL: laura@c22c.org