There have been questions about Pearlsky’s diagnosis and the phone call the other day, etc. So, here is more information on her, it, and stuff. Because of the extreme rarity of this diagnosis, I will call this particular amino acid “halcyon.” That is not the real name, but it works.
First, a simple amino acid primer …
When we eat proteins (drink milk, eat meat, etc.) our body does many things with it. One is to break down the proteins into amino acids.
There are many different amino acids. Some of them are called ‘essential’ and others are called ‘non-essential’. These names are VERY misleading. All amino acids are needed. Some can be made by the body as just described, others cannot be made by ‘metabolizing’ (breaking down) proteins. Those amino acids must be taken in directly in food, hence they are called ‘essential’. That is, essential to eat.
Halcyon is called a non-essential amino acid. Our body makes halcyon from proteins we eat. It does it via three ‘pathways’. These can be compared to assembly lines. We start with protein, an enzyme (chemical in the body) works on the protein and makes it into something else. Another enzyme then works on the new compound and makes something else. After a few enzymes have their way along the assembly line, we finally get halcyon.
We said there are three of these assembly lines, or ‘pathways’. It is typical for the body to have several ways of doing something.
As it turns out, one of the pathways is a major one, in other words, it makes most of the halcyon. The other pathways are minor, they do not make as much.
Halcyon is used in the body in several ways. Our primary concern is its use in the production of the ‘myelin sheath’. This is the white covering of nerve fibers and is a very important part of the brain and its development.
The problem we are dealing with is an enzyme defect. One of the enzymes in the primary pathway does not get made by the body. Enzymes are made according to directions in a person’s DNA genes. So, there is a genetic defect, a defect in the DNA, that does not properly code for an enzyme on the halcyon pathway. Hence, minimal or no amino acid is produced.
Quick timeline review …
- Pearlsky is born
- Told she will not leave the neonatal intensive care unit alive
- Geneticists, neurologists, etc. shrug and say “good luck”
- Take her home, seizures start at about eight months
- Three years later, David is born (“Courage has its rewards”) (ummm, no)
- A year later, we meet an anal researcher and his team
- They diagnose an absence of halcyon
- Find only one paper, one mention, in all medical literature, a few months old, about two brothers with this deficiency, paper does not follow the boys (they actually disappeared), parents were first cousins, paper is only “fair” in research, and not much information
- Biopsies from Pearlsky, her mom, and me sent to researcher in Canada who finds the actual DNA gene defect that causes a failure to encode for a specific enzyme that is needed for the primary pathway to make halcyon to work
- Pearlsky and David get halcyon daily
- Single Dad starts a foundation to get others to understand that metabolic testing is essential for this population and that low values of amino acids in cerebral spinal fluid are as important as high values
Research continues in Europe where now there are about a dozen known families effected by halcyon deficiency. There are four cases in the U.S. that we know of that have been diagnosed, although one is actually questionable. That leaves three definite known cases in the U.S. (.0000009648% of the population). Two of them are my progeny.
We have pretty much been on our own. At one point I was suspicious about how we were dosing the halcyon, so I designed a test, got the metabolic specialist involved, conned the head of pain management to help, and we inserted a catheter into the base of Pearlsky’s spine (usually done to infuse pain medications over time) to take cerebral spinal fluid (csf) samples hourly. This enabled us to track the halcyon levels in the spine (hence, around the brain as well) as learn about the absorption curves, etc. From this, we optimized the dose intervals and amounts.
We go through the years dealing with issues as they arise. I generally keep an eye on research that comes out of Europe on the disorder, occasionally there is something valuable, not mostly not. There is nothing known about life expectancy, Pearlsky appears to be the oldest diagnosed and followed. The literature talks about issues like hers, mainly seizures, global delays, etc. There are few hints about any specific population with the genetic defect … Pearlsky’s mom and I do originate from a very small population many many generations ago, at least paternally, but as you will see, that may be moot.
Besides all the typical “severely disabled” crap we deal with, you probably realize the thing that gets me is Pearlsky’s complete and total lack of communication. I am still working on a post about how I deal with zero feedback. That has always been difficult. Going hand in hand (sort of) with this is the “feeling” that many of those, if not all, who work and deal with Pearlsky have … she understands a lot more than we know. More “goes in” than can “come out.” Teachers, doctors, friends and family all agree that it is conceivable, even probable, that Pearlsky has the mind of a six or seven year old and potentially she is “on age,” eighteen. My personal belief is that she definitely has the mind of a seven or eight year old. This is based on the intangibles that we all feel when being around her.
The concept that Pearlsky has receptive language and not expressive language (or, more precisely receptive communication and not expressive communication) is tough. It is, however, the core argument to have Pearlsky excused from the No Child Left Behind (NCLB) testing, which is mandatory in schools. How can you ask Pearlsky a question and wait for an answer when she cannot answer? Imagine being in what appears to be a coma, lying in bed, aware of everything around you but others think you are a vegetable (great word, eh?). You hear the doctor talking, your loved ones talking, and you are screaming in your mind, not moving, not making a sound. What if they are asking you questions, and you can’t answer? Not a pleasant place to be. Hence, I do not ask Pearlsky questions, and I demanded the school not. Eventually we won … it took being on the news, going to the State House, etc.
I truly believed that the language issue is something that came along with the generic “severely disabled,” “global delays,” etc.
Hulis (a well educated, ICU nurse for many years) emailed the other day. We had been in touch about three years ago when her son, Jim, was diagnosed with a halcyon deficiency at age two. I gave her and her doctor a lot of information at that time. It was interesting that Jim was much higher functioning than either Pearlsky or David. He actually could walk. Halcyon did help with seizure control and other issues. After a few months with several interactions, we were no longer in touch, no reason to be. Until last week.
How are you and your children? Jim has been doing well. I was wondering if you could help me with a couple quick questions. We took Jim to the eye doctor because I am convinced there is something wrong with his vision. Do either of your children have pale optic nerves or any diagnosed vision problems? Jim is going to turn 5 in a couple of weeks and he is unable to communicate and tell us if his vision is ok.
Do they have nocturnal seizures?
We are struggling with so many issues right now and feel like we are not solving a lot of his current issues.
Thanks for your time.
We had some back and forth emails, she asked if she could call, and I of course said “yes.” One interesting note is that although her ancestry is not that far from mine and Pearlsky’s mom (European based), Jim’s dad is Hawaiian Asian. (There goes my theory that my next wife would need to be Black and from China for an entirely different gene pool.) And, if you are curious, yes, Pearlsky has pale optic nerves, had nocturnal seizures and sleep issues as well. So we spoke, I gave her information that I have learned, details on Pearlsky as needed. She told me that Jim is in a regular school, he can play with the other kids to some extent, and he can run and jump. And then it happened.
I actually find that Jim tends to be very intelligent in working around his disabilities mainly his speech. If he cannot communicate something he will figure out how to get his point across with pictures. If his communication cards are not good enough for him he will find magazines or books and point to the picture that fit the situation.
I was silent. Was this validation? Do all parents feel this way? Is this a halcyon thing?
We discussed how Jim has always had trouble with expressive communication, telling what he wanted, and she always believed he understood her, that he had full receptive communication.
Do not ask why Jim is so much more advanced than my kids, that is an unknown.
So is halcyon tied to (lack of) expressive communication? Is there more I can do? Is it really true that she does have receptive communication as we all think? Is this further proof?
Is it good? Would I rather be in a coma and not know what is going on around me? Is Pearlsky better off knowing and understanding the world around her, understanding the questions addressed to her, yet not being able to react? Or would it be better if she was oblivious, just having the mind of a two month old? Not that it matters …
I would say how I hate this disability, but that would piss off Claire …
She gets it. Pearlsky gets it. She does understand. Damn, that’s fantastic. Now we must build on that …