There are more than 6,000 rare diseases in the world, and approximately one in 2,000 people have been diagnosed with one. Every person and/or family affected by rare disease is different in their own way, but we all share the same problem: we are “rare” and often even the medical community doesn’t know what to make of our diagnosis.

My 12-year old, Zoe, is affected with a rare disease that affects only 800 children worldwide. Her disease does not discriminate on the basis of race, or gender, and it is known by two different names: Ondine’s Curse (its first and oldest name) and Congenital Central Hypoventilation Syndrome or “CCHS” (its modern name).

CCHS is a central nervous system disorder in which the autonomic (involuntary) control of breathing is low. For Zoe and other CCHS patients, this means that the respiratory response to oxygen and carbon dioxide is sluggish at best during the day; and, it is absent at night, when sick and/or when stressed.

There is often (but not always) a gene mutation component to CCHS. The PHOX2B gene provides instructions for making a protein that acts early in development to help promote the formation of nerve cells (neurons) and regulate the process by which the neurons mature to carry out specific functions (differentiation). The protein is active in the neural crest, which is a group of cells in the early embryo that give rise to many tissues and organs. Neural crest cells migrate to form parts of the autonomic nervous system, many tissues in the face and skull, and other tissue and cell types. The PHOX2B mutation associated with CCHS adds extra alanines to the polyalanine tracts in the PHOX2B protein. This type of mutation is called a polyalanine repeat expansion.

If someone has the PHOX2B mutation, their CCHS diagnosis is clear. Unfortunately, absence of the mutation does not necessarily rule out CCHS– if a patient’s symptoms look like and act like CCHS, the diagnosis can be made even though the PHOX2B gene tests normal.

Because of CCHS, life is in many ways altered for Zoe. As a baby, she was trached and ventilated 24-hours a day until I could teach (sprint) her to breathe off the ventilator at night.

The “sprinting method” is when you take your child off his/or her ventilator while watching their saturations. It is liken to training for a marathon: when training for a marathon you obviously don’t run a marathon, you just run a block and increase you run everyday until achieve your goal. This is the same as sprinting or weaning a person off of their ventilator, you must do this slowly and carefully because what you really are doing is teaching them to breathe on their own, and there is no room for error. Not all children on ventilators are able to sprint it depends on the nature of their diagnoses, where they are health wise and of course it is also done by a case by case situation.

Sprinting can take at least a year if not more, the old two steps forward and one step back adage makes the sprinting a day by day adventure. There were times when I felt like throwing in the towel and giving up, but then I would look at my beautiful little girl and just know that I could never give up. Zoe is a fighter, and I had to be one as well. After many long battles, we finally won the war. In our case, winning the war meant that when she was 2-years old, we were able to get Zoe to where she was ventilator-dependent only 12-hours/day.

As you might well expect, Zoe’s milestones were delayed. On top of teaching her to breathe via the sprint method, I also had to teach her to hold her bottle, roll over, feed herself, crawl, walk and talk. Each small success was huge in my eyes, and it was hard to make others understand why I was so excited that Zoe was finally able to do what their children did naturally. I feel that as parents of medically-complex children, we all understand the joyous feeling of these small accomplishments. As I have walked down this road as a special needs mother, I have found that until you know the deepest pain, you can never really know the deepest joy.

At 12-years old, Zoe is still dependent on her machines 12-hours a day. She feels that she is normal and even typical, and she does not see herself as being different than any other child. Zoe knows that she has a disease, and at night I have to “plug” her in, but as she sees it, everybody has “issues,” and CCHS is just her issue. I often marvel how that she can just accept this disease and move on, when at times I need to pull myself off the floor.

Every couple of months, we grace the doors of specialist after specialist, as doctor office visits are just part and parcel of caring of taking care of Zoe. She has gone to school with IV’s and heart monitors, and she has missed birthday parties she wanted to attend because she needs a scan, test, treatment and/or some other such medical procedure. Through it all, Zoe is a testament to fortitude and grace as she undergoes these pokes and prods, and she is always the one with a smile on her face and a ready hug for those who are in need.

Zoe goes to a regular mainstream private school, and she thrives there. She has many friends, and she is always sought after at lunch and at recess to play. She plays the piano beautifully, and she sings in the school choir. In short, Zoe lives a very full and rich life. Though I suspect we have to more frequently rush her to the ER and that we spend more of our vacation time in the PICU than do most families, this is our “normal”, and to us it isn’t such a big deal. . there isn’t an ounce of quit in Mighty Z – as long as that is the case, there won’t be an ounce of quit in us, either

10 thoughts on “Raising a Medically Fragile Child: Zoe with Congenital Central Hypoventilation Syndrome”

  1. Tiffany Creed says:

    Hello I found this page through a Google search my son who was diagnosed with CCHS through the genetic testing and is symptomatic has a twin brother they were born premature at 27 weeks and his twin brother went directly to CPAP while Giovanni has been on the ventilator since. We are looking for doctors in our area that have personally worked with a patient with CCHS. We are also looking for support to better understand his diagnostic and help us prepare our home and the rest of our lives and how to give our little boy the healthiest life he could possibly have with CCHS. I’m also interested in support groups or other parents to talk with and get support.
    Thank you, Tiffany Creed

  2. Hello Tiffany, my name is Caitlin Menello and I volunteer with the CCHS Foundation and the CCHS Family Network. The Network connects families from all over world. If you have not already heard about it here is a link to our new website : http://cchsnetwork.org. We are also on Facebook and other social media. I hope this helps and please feel free to contact me with any questions. I will answer them to the best of my ability, or I will direct you to someone who can.

  3. Viviana says:

    Hi! My name is Viviana and i was wondering if you can give me advice on airlines that will be equipt to transport a cchs infant. My niece is 10 months old and the state of Oregon wants to take her moms rights, the mom is young and has nobody to help so I stepped in but the problem is I am in TX and they are in Oregon and I am running out of time, I don’t want my niece to get lost in the foster care system just because her mom didn’t have the support, and on top of that being a medical frágil child she might never get a family! Please any advice will be appreciated.

  4. My new granddaughter was diagnosed with central sleep apnea and CCHS. She was born April 3rd and was a full term baby. We are all in shock and overwhelmed with all the unknowns. My daughter is devastated. Can anyone reach out? We need to know there is hope for her. Thanks

  5. Tiffany Creed says:

    Sandra have you guys went on the website caitlin provided? The Facebook page is a great help to connect with a lot of families with CCHS. You can also have her email me. And I can send her more information. Tlccreed@gmail.com my son is now 10 months old!

  6. Jason Barth says:

    My wife, Heather, is a 34 year old adult living with CCHS. She would love to give info and provide support.

  7. Sandy Egeler says:

    Thank you so much. I would love to talk with you or your wife about what it is like living with cchs. I delayed emailing because I thought our prayers had been answered. Wednesday they told us she did not have the gene mutation. The next day was it does not matter she still needs to be treated as if she does. She is at the University of Michigan and four weeks old and they dont know what is causing her symptoms. My daughter is distraught and does not know what to do and I dont know how to help her. We are all so scared. Any advise is very welcomed.

    Thank you so much.

  8. Vince says:

    Hello Caitlin,

    I had a few questions I was wanting to ask you. Since you volunteer for the foundation and family network.

    My wife has CCHS and her mother had tried to get her added to the network but was told no because she didn’t have paperwork “proving she had PHOX2B.” And that they couldn’t because they didn’t know her “strain”. I was hoping you could help me with finding a location near us that does the testing (we are at Camp Pendleton, CA).

    We were also wondering if you know of any families in the San Diego county or nearby that have had their own dog trained to be a service animal (especially for CCHS)

  9. Meagan says:

    Many prayers with your loved one. We r also in michigan. We have our test for cchs on Thursday. My son has been having medical issues for 8 months now. Hopefully we get our answers soon. So far we have laryngomalacia, epilepsy, cyanosis, hypoxia, acid reflux and im missing one. Cant think right now

  10. JoAnn S. says:

    I’m 56 and have had what I believe to be central sleep apnea; I am unable to re-start my breathing when I wake up gasping & have had no help from pulmonologists. Would be grateful for any help whatsoever. Thank you all.

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