A Miracle Turnaround for a Child

[RSKY]

I have a great, great nephew who has given the parents problems since he was born. He was virtually uncontrollable. Very slow to walk, talk, and had to wear diapers until about four years old. The family couldn't eat at a restaurant because of his behavior problems. Family get-togethers were a disaster because of his behavior. He somehow got thru classes at school giving the teachers all kinds of problems when the new school guidance counselor, who happened to be the little boys aunt, called her brother-in-law up and told him that she was ordering bloodwork and other tests on the child. The father objected, a long story on that, and his sister-in-law literally threatened him with bodily harm if he didn't sign off on the papers. After pressure from both sides of the family and his sister-in-law screaming in his face he finally relented and signed. The blood was drawn and sent off to a specialized laboratory. Results came back. The child was lacking some kind of chemical in his blood. At least that was the story I was told. Now he takes one small pill a day and is completely changed. I actually carried on a polite conversation with him last week. Instead of the sullen, angry, barely coherent child he was pleasant, happy, smiling, and well behaved. In school he has gone from special education classes to the regular classroom and has made the honor roll at least twice this year. I swear that his face has even changed. No longer is he the sullen (excuse the term) retarded looking child but his face looks normal and he smiles a LOT. I only see this child a few times a year but the change is astonishing. I am not going to ask the parents anything about this. I am gong to sit back and watch the young man grow up to be a part of society instead of being institutionalized when older.

RSKY

 

[ponytug]

I'm glad it turned out well for your great, great nephew.

Rare diseases aren't that rare in total. I've seen estimates of more than 20% of the population, but getting them diagnosed is hard, and treated often harder or impossible.

It is wonderful to hear a case that turned out well.

All the best, Peter

 

[groundcover]

What a story, thank goodness she advocated for him and got to the bottom of the issue!

 

[kf4uda]

I wonder how many children and/or adults are missing out on a different life due to an undiscovered problem like this.

 

[ponytug]

I wonder how many children and/or adults are missing out on a different life due to an undiscovered problem like this.

I think that is a great question!

While this particular person might be a more extreme case, the demographic data suggests that lots of folks experience substandard health for reasons like this one. Adults can spend years to decades in less than great health before a cause is found.

It is hard to know what you do not know, and the medical system is set up to think of horses when hearing hoofbeats, even though the collection of multiple rare diseases is common, and they should be thinking of zebras more often. I know someone who was lucky enough to be diagnosed with an extremely rare disease (one in several million) on the first doctor's visit, when typically it takes five to ten years to diagnose. From the doctor's side, a disease that rare is less than once in a lifetime occurrence.

I am hopeful that the right sort of computer assistance would help any doctor who used it to find these rare diseases sooner, at lower cost, with less of a loss to society in terms of wasted lives, ability to work/function, etc.

All the best,

Peter

 

[mllud]

That's a great thing that someone recognized something being out of balance.
The young man has a good shot at a productive life.
You go in a store and see children acting out and think they don't have a chance, parent ignoring bad behavior doesn't help.

There needs to be more standard medical trouble shooting procedures that are more thorough. Doctors are human, some better than others.
Doctors can miss or misunderstand what patients say and like what was said in the previous post and miss diagnosing a problem for years.
Instead of getting four or five CT scans on a different part of the body, one annual full body scan.
More money is wasted on hit and miss testing than covering all the bases once.
I'm a cancer survivor and have witnessed more of our medical system than I care to talk about.

Back to this young man's blood problem. That type of testing sounds more accurate than doctors throwing Ritalin around like a cure all.
Good story

I just had a blood test to adjust my thyroid medicine.
Did they think to send some of that blood for cancer guard screening? No!

My thyroid is off the charts, that may explain my negative thoughts 

 

[Jstpssng]

Doctors are human, some better than others.

They also are grossly overworked. It's only going to get worse as the population ages.

 

[dstig1]

The "horses not zebras" comment is very spot on. A very good friend of mine was complaining about chest pains when he would do just about any activity. He was ~41 at the time and about average weight for his size, in decent physical shape. No family history of heart disease. The docs gave him a "yeah yeah, you don't have an issue" because he didn't fit the pattern. He kept pushing as it was clear to him that something was wrong, and they finally relented and gave him a stress test. They took one look at the results and said drive yourself to the hospital immediately! The next day they put a couple stents in his LAD artery which is known as the Widow Maker. The surgeon was telling him how lucky he was as something like 85% of people with this problem drop dead from it before anyone is aware there is a problem.

In the OPs case, I can't figure out why the father was resisting a simple blood test. Super short sighted.

 

[Jstpssng]

I complained about heart issues since 2020. Multiple tests including stress tests, ultrasounds, etc and they kept saying there was nothing wrong. My first PA told me I was having "panic attacks"... as if it's normal to have my heart skip every 3rd beat. Meanwhile I knew that something wasn't right. I tried to tell myself to just keep going and if I dropped dead I wouldn't know it but self preservation is a finicky mistress. Finally last fall a routine test determined that I have a leaking heart valve... "Nothing serious but you need to lose weight and exercise more."
In other words, drop the 20 lbs I've put on in the last 5 years and try to get back to where I was before I started worrying about dropping dead if I overexerted.

I showed up for every test including my stress tests freshly showered... in hindsight I probably should have parked a mile away and walked, arriving sweaty and exerted.