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