Stories
Laura is an eighteen month old baby girl, who has CCHS and Hirschprung Disease from the day she was born. Laura can breathe during the day on her own. At night she has to be supported by the ventilator through a tracheostomy tube. Laura's family lives in Poland. Laura's mother has a website dedicated to her daughter at www.kochmylaure.pl and it is very beautiful. Laura's mom hopes for her little princess to eventually be relieved of her tracheostomy tube and possibly be able to obtain phrenic nerve pacing.
Tiago was born on October 2nd, 2008, in Cuiabá, Mato Grosso, Brazil (Pantanal’s land). As CCHS is very rarely diagnosed in our country, only at 6 months Tiago had his 20/27 CCHS diagnosed. This was the worst period. After we knew what Tiago had, our life got better and is getting better each day. When we learned of the CCHS Network we got a lot of support and information about how to live and take care of our kid. Tiago was trached at 3 months, and was at hospital until 5 months. At this time he had to use vent 24h and was feeded only by gastrostomy. Now he uses vent only when asleep, and eats solid food by mouth. As most parents say, I see that life gets easier as he grows, and reading the testimonials at CCHS Network I truly believe that Tiago will have a future life with rich experiences like his two siblings (nose breathers), Gabriel, older brother, and, Ana Elita, younger sister.
Kotoha, 5 years old, enjoys playing with her friends at kindergarten more than anything else. Her little sister, Cocoro, is also her source of energy. Kotoha loves dancing and takes lessons in piano, singing and ballet.She wants to overcome her fear of swimming this year. Kotoha is trached. She was born with Hirschsprungs and a cleft palate. She has a NPARM CCHS diagnosis.
Josh was diagnosed in 2005, as he turned 9 years old with Late Onset Central Hypoventilation Syndrome with Hypothalamic Dysfunction (which was later re-named ROHHAD). While it is not exactly the same as CCHS (he is negative for the PHOX2B genetic mutation), he does have hypoventilation syndrome (although he did not until he was 8 and a half).
He saw Dr. Weese-Mayer in Chicago in 2006. She determined he is ventilator dependent 24 hours a day. At the last CCHS Family Network Conference in 2008 in Orlando, we learned about diaphragmatic pacemakers and saw video of the surgery to implant them. We found a doctor in Houston who had experience implanting them. He and his team agreed to see Josh, and in June 2009 performed the surgery on him.
Josh, now 14 years old, is successfully using his pacers during the day and his Trilogy ventilator when he sleeps. He goes to school, but because of his symptoms (which include body hydration and temperature dysregulation, along with his hypoventilation) he requires a nurse to go with him. He also has nurses at home.
Julius was born on March 1, 2007 in Houston, TX and his illness came as a surprise to us. We received the diagnosis right before he turned 1 month, and he has been trached since. We weaned him to minimal mechanical support at one year of age, and he has been stable since. Julius now attends Head Start and has been doing well. We go through ups and downs with different issues but keep the faith that things will only get better.
Marissa S. is a senior at Brooklyn College majoring in Journalism. On the weekends, she works in a hospital pharmacy. She also has an internship at a newspaper called Education Update. On her down time, she enjoys spending time with her friends and roaming around Manhattan. Marissa has been using phrenic nerve pacers since early 2007. After being trached for nighttime ventilation for 18 years, she is happily mobile and traveling throughout the world. This past year Marissa visited Israel, California, and recently returned from a 14 day cruise with her friends. She will be graduating in June, 2011.
Megan H. is 12 years-old and currently in the 6th grade. Megan does well in school academically as is even taking a few honors courses. She plays softball, golf and just recently made the school volleyball team. She enjoys practicing softball with her team and hanging out with her friends. She does a lot of texting and probably a lot of you are friends with her on Facebook! This past summer she successfully transitioned from her trach and vent to bi-level ventilation using a nasal mask and a ventilator. This mode of ventilation works very well for her, and she's extremely happy to have her trach out! We look forward to having a little scar revision surgery in the next few months to try and make her trach scar a little less noticeable. We also plan to take our 5th Disney Cruise this summer.
From Brendan K: We all had a great time at the conference. We enjoyed seeing everybody again, especially meeting other kids who have also grown up. I especially enjoyed the talks by the doctors. To be honest, I've never really thought about the science behind CCHS, other than knowing that it was all caused by a gene mutation. I'm glad I got the chance to meet Dr. Keens. He is certainly very knowledgeable about CCHS, which is reassuring to both my parents and me to know there is an expert who cares about CCHS concerns. I'm sure that wherever the next meeting is, we'll be there! Reba (Brendan's service dog) had a great time also. She's never been out to California either! Here's a picture of Reba and I..
Myles was born on Halloween 2010. He was trached at six weeks after receiving a diagnosis of CCHS 20/25. We learned to care for him over the next six weeks in the NICU. We were elated to finally take our beautiful baby home in January. We are hoping to go to Chicago soon and plan to have pacers implanted in a few years. Myles is a happy little boy with a mop of hair, a ton of teeth and a lot of ambition to walk before he turns one! Every day with him we are in awe of his contagious smile and personality. He lights up our lives and brings us more joy then we could imagine. We thought we knew love, then we had Myles.
Courtney W: Though Courtney was undiagnosed at birth we noticed her color was poor during sleep and that she was sleeping for longer and longer periods. At 2 weeks old she stopped breathing and was in very critical condition by that time. Courtney spent most of the first seven months of her life in hospital and also suffered seizures. She was trached at age 4 months and was diagnosed with CCHS (20/25 mutation) shortly after. Courtney had the trach for three years and progressed normally in her development aside from a severe speech delay. We worked with her, teaching her sign language, and she communicated very well this way as her speech slowly improved. As her parents and with the support of her respirologist, we felt she was ready to transition to a nasal mask with Bi-Pap. Courtney was experiencing frequent tracheal infections and was on antibiotics often. In April of 2010 at the age of 3 she was decannulated and surgery to close the fistula was performed the following September. Life without the trach is much improved and we enjoy taking her on holidays and swimming! Courtney's speech is now only mildly delayed and she will be starting preschool in Fall 2011. As families of children with CCHS we all know how challenging life can be, but it is nice to know that at least we are not alone and we can celebrate the ups and downs together. We are excited that Courtney will be granted her wish for a playground and swingset this spring through Children's Wish Foundation.
Please send us your stories and pictures!