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.
Wow! Really…wow! AND even more wow for me is that we were told from a medical intuitive (yes, call me flaky or whatever else comes to mind) to use amino acids in bulk on our daughter to heal her brain. Once we started that (we get the stuff off the shelf and from the naturopath), she made huge improvements both physically and cognitively. I have been trying to write a post on aminos for so long…Happy for what you learned for your kids and the others who benefited from it.
Wow, is right. I still don’t have a diagnosis for my daughter and I have to say that it’s difficult to muster up the energy to search for something more for her. I wonder what step I should take next.
WOW! What and incredible story! I don’t know why, since we’ve had a diagnosis pretty early (well, sort of), but it makes me feel so hopeful and encouraged. Or maybe, inspired is the word.
Okay, so I think you should change the movie title in your current poll to “Lorenzo’s Oil”.
Okay, so you have explained why a rare Texan played a role in the eventual ‘diagnosis’ of your daughter. Seems you have a need to bash him forever? Forgiveness has its own rewards.
Okay, so I don’t believe in coincidence and I DO think that man played a role in the chain-of-events leading to the discovery of the ETIOLOGY of your daughter’s (many) diagnoses (none partial but not all equal in effect).
Okay, so no parsing of words lessens the impact of your message.
There is still so much we do not know.
The best essay I have ever read about diagnosis. Brilliant case.
Barbara: I don’t believe I “bashed” anyone in this post. The gentlemen was proven to have acted illegally, that is why his decision was reversed, and unethical was a wide concensous. As to your forgiveness comment, I have written a lot on the topic of forgiveness and take it very seriously. If he ever feels like apologizing or acknowledging his wrong doing, I will consider forgiving. And I am aware that there are some great people in or from Texas. And some famous not so great. C’est la vie!
Cath: Thanks for the great words.
Je suis commence à pense que nous ne parlent pas la même langue.
Barbara: It would be boring if we all spoke the same language, no?
It would be nice to have a diagnosis for my other two children, but we never got one. On the other hand, my daughter is healthy and continues to grow and progress.
It was a learning experience to read your case for diagnosis, as I have been pushing the other way with a MIL who wants a reason for all of her health issues. I have been more interested in what can be done and could care less of the diagnoses. If nothing can be done, I am interested in what can be done to make it easier for everyone concerned in living with the problem. Diagnosis is low on my list of issues.
But with diagnosis come some solutions, not just for the person at hand right now but for the future. It is something that my pragmatism was not addressing.
Great story of the beginning and end of your diagnostic journey or odyssey as some say.. It is really sad to say in our day in age that it still often seems as though finding a diagnosis for rare and even sometimes common diseases, is about being in the right place at the right time. Or Seeing the right doctor out of a million that has the knowledge that is needed to make that diagnosis.
It is my hopes to make an impacting with changing the way undiagnosed children’s cases are often sitting in the wrong doctor’s filing cabinet. In a sense we need those files or information to be viewed by that one doctor.
I hear you on the pain thing- until he was four, my autistic son laughed during shots and blood tests. And I love your perspective on diagnosis, and your ability to see the blessings in disguise.
While I would not describe my son as severely disabled, I often feel confused about his official diagnosis of PDD-NOS. It’s what you wrote in the first diagnosis post- it just tells me he’s delayed, and not why/now. Any medications we use are just to treat the symptoms we see, without any idea of what might underlie. I wouldn’t trade places with you- we’ve all got to live our own lives- but sometimes I’d give anything to know the biological cause. As a parent, hearing that your child’s disorder is largely behavioral opens up all sorts of insecurities, and leaves you hanging without the pure science we all know and love.
It’s a good thing I come from a psychology background, where diagnoses tend to be fluid, or else this would drive me beyond crazy.
Just found you, and am working my way through. Thank you for your perspective and your honesty.
Thank you for this perspective. I am getting my PhD in sped and I often question the need for a diagnosis (there is a “social construction” of disability; goes along with the fact that you can get a label in one state and not another for things like learning disabilities, even autism). I really appreciate this because it helps me understand that there are such things as more “black and white” diagnosis (obviously I knew this with things like downs syndrome-it is more clear cut as to whether one has it) b ut you have showed me that there is a group of disorders that to know if they have it is black and white and the information is actually useful in treating them. You may be saying “duh!” but that wasn’t obvious from my experience. Often dx are only for the benefit of funding and cause educators to not look at the specific needs of that child, but to look at them as a member of a group. If we could only support each individual student with what they need (ideal world, yes) then dx don’t matter and neither does sped (as you know, there is no magic pill or treatment when someone receives special education). But, I understand, from what you are saying, that there is some value to a dx in some situations (where the treatment is medical; I still am not convinced when the treatment is along the lines of speech, education, etc). Thank you so much for your insights.
And, a comment on an (even older) post-I know that the sped team was trying to understand your goals. They responded horribly to your honest answer and probably went on to talk amongst themselves about how you are unrealistic or in denial-pissants. But, wanting normalcy is about as understandable as you can get. And what does that mean to you? Break it down. Communication-is that your number one goal? Or for her to have friends? If you break it down and prioritize, then they can try to focus their efforts more to that end. Unfortunately it is more of you having to tell them how to do their job. Such a mess. I am sorry education is in the state it is and you have deal with all this crap (they system).
One more thing-women have discharge/cervical mucus around the time they ovulate. The purpose is to assist in reproduction (sperm in good quality mucus can live around five days). I think a typical cycle is something like this-7 days bleeding, 7 days dry, 7 days cervical mucus, and 7 days dry. I learned that when charting my fertility and found it interesting how little I, and most women, know. You probably know more about your daughter then most women know about themselves and I applaud you for that.
Sorry for long comment-just getting the pleasure of reading you and since I have a wretched virus and resting, I have found a lot of joy in reading from the beginning.
I understand and wholeheartedly agree…Diagnosis are VERY important. It took us 5 1/2 years to get our daughters diagnosis. Until then…I thought I had caused it. Nothing like shelfing the blame. Thanks for saying it how you feel/see/live it. I like to know I am not alone. I like to know that my thoughts and feelings are “normal”. (Sorry to post- I realize this is old…but I am starting it at the beginning and sharing your journey a couple of years late.)
I’m starting at the beginning (also late) and I love your writing style, better than many novels I read. I find myself getting mad, sad, then laughing hysterically reading through your “journal”. I am also intrigued by all things medical. I guess you could call me a voyeur. I stumbled upon your blog from another I follow. After reading this I found the research on this particular diagnosis that included your family, it’s amazing what your family was able to contribute to future similar cases. I can only guess that may be an unsatisfying “consolation prize”. I hope I don’t sound too insensitive, I wish you both all the best!