By any other name

Today Jessica and I took Namine to her genetics appointment. It wasn’t so much for her benefit, however, as it was for ours, as her caregivers and advocates.

We were addressing the problems that no one else has been able to address: her lack of weight gain; her lack of growth; her so-called “failure to thrive,” as identified by the GI department. There was of course also the matter of her disparate birth defects: double-inlet left-ventricle heart defect (DILV), caudal regression syndrome (CRS), and Pierre Robin sequence (which is not truly a syndrome – a single condition – but rather a sequence of one thing gone wrong after another, each building on the last). None of these defects had any obvious connection to another; it is rare for a child born with several defects for those defects to be truly unconnected, and the head special needs doctor was curious whether genetics could give us a possible answer.

False leads

Last time we saw genetics was in 2009; the doctors had found, through genetic testing, that Namine and I shared a deleted chromosome. Perhaps, they thought, this was the culprit and the guilty party. Perhaps Dad, with his bad DNA, inflicted upon his poor, innocent daughter these wretched problems. (No, of course they didn’t think those things. I’m being dramatic. But they did wonder.) I was at work when they came to see Jessica (Namine being in the ICU), asking her if I was mentally handicapped or prone to seizures. (The answer is no.)

It turns out that the chromosome that I am missing is related to those very things. Therefore, it surprised them that I was normal, and they fully expected Namine to exhibit signs of being mentally handicapped herself. In fact, they told us to be aware that she could start having seizures at any moment.

Fast forward back to today. Knowing a little more now than they did then, they revealed to us that Namine and I do not share a mere single deleted chromosome, but three. In addition, all three of these are related to being mentally handicapped.

The geneticist said that he could not logically connect Namine’s deleted chromosomes to mental illness, since Namine did not manifest any of the expected symptoms. And he also could not blame those deleted chromosomes for Namine’s visible defects, because I shared the deletions and did not have any of the same defects.

Identifying the problem

Naming Namine’s specific problems is easy; doctors have done so numerous times, and her chart is thick enough to prove it. (In case you’re wondering, it is thicker than a dictionary. That’s not exaggeration; I’m being literal.) But the doctors are not content with that; they remain convinced that there is a single, unifying condition that explains what went wrong inside the womb. The geneticist settled on one: femoral facial syndrome, a type of diabetic embryopathy.

Holy mackerel, that’s a mouthful. But what does it mean? The National Institutes of Health Office of Rare Diseases Research describes femoral facial syndrome as this:

Femoral-facial syndrome is characterized by underdevelopment of the thigh bones and certain facial features, which may include upslanting eyes, short nose with a broad tip, long space between the nose and upper lip (philtrum), thin upper lip, small or underdeveloped lower jaw (micrognathia), and cleft palate. Symptoms may affect one or both sides of the face and limbs. Cleft palate has been reported only in females. Other signs and symptoms occur variably. Intellectual development has been reported as normal. In most cases the cause of the condition is unknown (sporadic). Some cases have been reported in association with diabetes during pregnancy (maternal diabetes). There have been rare reports (three cases) describing a family with more than one affected member.

The geneticist explained to us that femoral facial syndrome affects cranio-facial (face, skull, and spine), cardio (heart), and caudal (lower body) regions. This makes sense, because it fits Namine perfectly.

Namine has Pierre Robin sequence, which gave her the regressed jaw, partial cleft palate, smaller airway, and slightly slanted eyes. She also has slight scoliosis. She’s had a cannulation (trach placement), jaw distraction, cleft palate repair, and decannulation (trach removal).

Namine has DILV. She’s had two of the three required surgeries. Her next echocardiogram is in August, which will tell her cardiologists if her heart looks like it’ll need the Fontan (the third surgery) before winter.

Namine has caudal regression and club feet. Her hips are dislocated and her leg bones seem to break easily (thanks a lot, careless nurses). She’s had the club foot repair, and is now undergoing physical therapy to be able to walk.

What’s in a name?

After the geneticist gave a name, a single, unifying name, to what was wrong with Namine, we sat there, unchanged. Nothing had changed. Nothing was different. No miracle happened; angels did not appear in the window and pigs did not fly. What would you expect? We’ve had over two and a half years to get to know our daughter. Our perfect daughter. No matter what names – or name, now, singular – you call her problems, we love her. We love her exactly as she is.

If it makes the doctors feel better to name it, please, be my guest and name it. I’m sure it feels much better to say, “Oh yes, she has femoral facial syndrome,” than to say “I don’t know what went wrong with her.” I’m sure they want to feel very much in control, like they have a handle on the world’s problems.

But we come from the other side of the fence. Jessica and I have been on an uncontrollable roller coster ride since we first found out she was pregnant. We don’t feel in control; we don’t expect to, especially now, especially with a two year old! But that doesn’t matter; love does. The love we have for her, and the love she has for us. That doesn’t need a name.

So call it femoral facial syndrome, if it makes you feel better, a little more in control. But I have a better name. I call her my little love. I call her Namine.

5 responses

  1. I love this post!!

  2. Completely fascinating.

  3. I call her Punky-doo & Sweetie Pie!!

  4. I call her one blessed child – to have the parents she has.

  5. And those, my friend, are the words that count the most. Well said.

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