Why we choose to celebrate the day Micah was diagnosed.
It may surprise you to know how difficult getting to a diagnosis can be for families of children with rare diseases. Our story, like many, is one of fighting hard for answers for years before we found them. Parents often know something is different about their child long before medical professionals are willing to listen. The struggle is filled with phone calls, appeals to insurance companies, advocating to specialists, therapists, school systems, appointments, assessments, and tests, endless hours searching the internet for clues, and lots and lots of waiting. Often times we would get a referral for a specialist, wait a few months to be seen, and then that specialist would give us another referral for which we had to wait even longer. We had a false lead that we really believed in for a while and it was a shock when that lab test came back negative. Finally arriving at a diagnosis felt like a victory. Kabuki Syndrome.
2. Because it means he survived another year.
That may sound dramatic. Micah has always been a pretty healthy little guy, but that is not the case of many children with Kabuki Syndrome. I can think of five or six children from our support community who passed away due to complications from their syndrome this year. Along with intellectual disabilities and speech delays, kids with Kabuki Syndrome often struggle with a wide array of physical problems. Heart problems are common to around 80% of kids with Kabuki Syndrome. Many have failure to thrive as babies and require tube feedings. Many have deformed kidneys which do not function normally. Hearing and vision can be affected. Palate and dental problems are not uncommon. Sleep apnea is another scary complication. Lots of these kids struggle with frequent infections of all sorts because they can heave weakened immune systems, requiring visits to immunologist and endocrinologists. Seizures are common in about 1/3 of kids with Kabuki. This is to say nothing of the speech apraxia and developmental delays of all kinds that pretty much all of these kids struggle with. Since his diagnosis Micah has seen many different specialists to screen for these complications. I am SO grateful that so far the differences he has in his organs have all been mild and haven’t required him to undergo any scary interventions or surgeries. The tests are hard enough on him.
3. Because a diagnosis creates community.
There is a lot of criticism these days against “labels” for children. I think people worry that labels are limiting or stigmatizing. I have found the opposite to be true. Having a child with a rare disease can be very isolating for families. Kabuki Syndrome affects about 1 in 600,000 live births. What this means is there are only four children in my state (that I know of) who have this syndrome. The worldwide support group Andrew and I joined has only 2,122 members, many of which constitute both parents and often grandparents of each child. Even still, these 2,122 people have become like family to us. We know their children. We pray along with them at each doctor’s appointment. They answer our questions, often in another language with a rough translation from Google. With a rare disease the incentive to do medical research is low and the doctors don’t always have many answers. It is so nice to be able to say to another parent, “What is your child’s experience?” Without Micah’s label we would not have a way to have community. We even have met up twice so far with two other families from our state who have little boys with Kabuki Syndrome.
4. Because a diagnosis gives him access to treatment.
In today’s healthcare and school systems a diagnosis can be very useful in terms of qualifying for treatment and knowing what treatment is needed. If we didn’t have Micah’s diagnosis we wouldn’t know what health problems for which he might be at a higher risk. His diagnosis tells us what to look for and it also tells our insurance company that they need to cover visits to specialists. Having a diagnosis also opens doors to treatment through the wonderful public school system where we live. Micah is blessed to go to a special education preschool class through our local elementary school. He goes half day five days a week. They transport him, feed him, love on him, and most importantly, provide him with therapies we couldn’t begin to know how to do at home. Micah gets FREE therapy from trained specialists who amaze me every day. Now, many kids can qualify for a program like this just based on developmental delays, but Micah’s diagnosis gives a guarantee that he can never be discharged from services even if he is doing well. He will always qualify for extra services through the school until he graduates high school. There are benefits to him as he gets older through the government that we haven’t really even begun to explore.
5. Because Kabuki Syndrome is a big part of who Micah is.
When I first started to worry about Micah’s development I spent a lot of time second guessing myself. People would reassure me, saying that they knew kids who didn’t talk until later who turned out just fine. I would have days where I felt silly, like everything was in my head. But in our hearts Andrew and I knew something was there. Over time as this reality sunk in, I had a lot of thoughts. Why was he like this? Did I do something wrong? I occasionally wished I could make it go away if I just ignored it. Maybe he would just catch up and be “normal” if I read him more books or tried harder to be a good parent.
By the time we got to diagnosis my desire for a typical child had faded over the three years. What would it mean to wish that Micah didn’t have Kabuki Syndrome? That would be to wish that I had a different child. It’s unspeakable. Our genes in many ways make us who we are. They help program our personalities and our dispositions. While Micah faces more challenges than a typically developing kid those who know him will attest that he is a remarkable person. Micah is the happiest little guy you will ever meet. He is sweet as can be and so very excited about each and every day. His energy and enthusiasm for life are infectious. He belly laughs and his eyes sparkle. People we pass in the store can’t resist his friendliness and charm. Micah is not afraid of anyone and has never met a stranger. The differences we all have make us, us. Instead of being afraid to admit the “flaws” in ourselves and other we have the opportunity to embrace them and so transform them into our strengths. Today we celebrate Micah, Kabuki Syndrome and all.
Last week Micah had a follow up with the cardiologist to go over results from an echocardiogram he had a couple of months ago. Micah has an enlargement in part of his aorta that they are watching. I was relieved to find out that it’s not going to need treatment at this time. After the cardiologist left the room a geneticist came in who works with the doctor who diagnosed Micah. She decided to join in on the appointment because she has desperately been wanting to meet Micah.She came in and excitedly told me, “I know all about Micah. I’ve read his whole file and studied all about him. His diagnosing geneticist gave a clinical presentation on his case and I am very interested.” I was shocked. It is often hard to get attention for rare diseases, but here was a woman who is eager to study Kabuki Syndrome and is particularly interested in Micah.
There are two genes which when affected can cause Kabuki syndrome, KDM6A on the X chromosome and KMT2D on the 12th chromosome. Most cases are caused by KMT2D mutations with only about 10-20% coming from KDM6A. So we knew that Micah’s version of Kabuki Syndrome was rare because he has a partial duplication of KDM6A. However, we learned that day that he is the only known person in the world to have a KDM6A duplication with all other cases caused by a deletion of that gene or part of that gene.
All that to say, this geneticist wants to follow up with more study of our family. She has arranged for free genetic testing for me to see whether I might also carry the mutation. Knowing that information will help to either solidify or debunk Micah’s diagnosis. It will also give us a better idea of the risk of recurrence for me or other female relatives who might have children. Also importantly it will contribute to the newest research going on about Kabuki Syndrome right now. Kabuki Syndrome was first described in the eighties but researchers were only able to identify the genes responsible in the last 5-7 years. This could mean deeper understanding into Micah and others like him that could have dramatic effects on the prospects for treatment and hopefully prevention for future generations.