Diagnosis … our saga

(I hope you read part 1 of “diagnosis” here.)

When Pearlsky was born her apgar score was 9, so much for standardized testing. She was in the NICU within hours for a temperature regulation issue, but that resolved quickly. Then the CAT scan, genetics, neurology, CSF (spinal tap), etc. As mentioned, a week in the NICU (after being told she would never leave) and a funny incident with genetics, and then freedom, which brought its own pain.

At eight months, seizures. We also noticed that she had very little peripheral nerve function. She was not ticklish and had a very high threshold of pain (she did not flinch at injections, etc.). All sorts of tests were done at two of the best hospitals. Our neurologist was world-renown for microcephaly and things of this nature.

Nothing. “Good luck” they would say, and treat the symptoms. We decided to try for number two, give her a sibling, what the heck. Upon announcing our second pregnancy (ok, she was pregnant, but I helped) my dear friend Ray Weiss faxed to me a simple handwritten note …

Courage has its own rewards.

Then my son was born. Within weeks we knew that lightning struck again. By one years old, he had a G-tube and seizures. He also had high muscle tone, his toes especially were always curled. It was tough, doctors, specialists, … nada.

Then this man illegally and unethically fired my wife, thank god (she was not only reinstated but promoted when the motives came to light, but it took a while). She took a one semester position elsewhere and while sitting next to a woman she never met, they started discussing their kids. My interpretation upon hearing of the conversation, second hand …

You should see my husband. He is a great researcher, very anal, and he will find their problem.

And he did. He formed a powerful team with her and him, scoured the literature, did more tests, took samples from the four of us … and who knows what else. Just as they discovered what appeared to be the issue, an article was published on the same thing, the first mention of it in all of medical literature. Turns out to have been poor research (I am told by many), with some errors and no follow up, but the first mention of what we had confirmed a month earlier.

It turns out that the diagnosis was in front of us all along. Her CSF (fluid from spinal tap) in the NICU showed one amino acid as very low. BUT, at that time, low levels were never flagged, only excessive levels!

Diagnosis – an inborn error of the metabolism of a specific amino acid. In other words, they do not have the enzymes (due to a DNA error) that will break down protein they eat into a specific amino acid. This amino acid is important in developing gray matter (i.e.: brain tissue) and production of the myelin sheath (covering of nerves).

Why A Diagnosis Matters

I will save for another post the actual giving of the new medicine, the fun in the super special research ward, the fear, anticipation and all the rest. Let’s jump to the punch line.

After about a week of giving it to my son (Pearlsky waited two months, we did not know what would happen), we were out with them both in the double stroller (during the summer) and I looked at my son, and stopped short.

Look at him!

Slightly panicked, my wife asked “why, what’s wrong?”

Look at his feet.

His toes were perfectly relaxed. Holy shit.

Seizures were under control. Muscle tone was much more manageable.

Then we started Pearlsky on the amino acid, she was about four years old.

About a week later, it was a Friday night, I am sitting with her before putting her to bed, as I always do. We are in the glider chair in her room, she is on my shoulder, my hand on her back. All of the sudden she makes a noise I have never heard. I am startled and look at her. My hand is under her pajama top, on her back. I move it again … and she laughs. For the first time in her life. She is ticklish! SHE LAUGHS.

I am close to tears … I call her mom who is with my son elsewhere … no answer. I call my mom, and get her answering machine! She later recants about the phone message of her son crying and her granddaughter laughing.

Peripheral nerve function starts to return! She cries during a shot! MY DAUGHTER DOES NOT LIKE SHOTS ANYMORE, you know how great that is?

Seizures are better controlled (not eliminated). General improvements. But still no prognosis. No other cases known or followed. The two boys in the original research were never followed up on, the family disappeared. It is just us.

Now that we know the exact genetic defect (due to our cells and a researcher in Canada), others have been so diagnosed. Two children in the US, a couple of dozen in the UK and Europe.

The need and advantages for a diagnosis for us is obvious. But, and this is a big but, for others and the future is so much more important.

It appears that the defect does not run strictly along Mendelian genetics (i.e.: each parent a carrier, one in four chance that a “pregnancy” will have the defect), but that it runs higher than that (hell, we had a 100% hit rate). So … there was this family in the UK, and because of our research they found one of their children (severely disabled, undiagnosed) had the defect! And, the mom was pregnant. The fetus was tested, and alas, it too, had the defect. Immediately they started to give the mother the amino acid in bulk, although sheep studies showed it did not cross the placenta (!), it did. The child was born with very minor issues, and has continued on the therapy.

Why do you need a diagnosis?

Quality of life. Seizure control. Peripheral nerve function. Saving others. Saving yourself.

And I don’t even start to talk about the sheer hell of just not knowing.

Yes, courage has its rewards. So does diligence, hard work, obstinate determination, and a prayer or two. Oh, and a hell of a team of doctors and researchers.


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