Posts Tagged ‘family’
Long-Term Ovarian Function Assessment After Haematopoietic Stem Cell Transplantation in Female Sickle Cell … – Cureus
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Long-Term Ovarian Function Assessment After Haematopoietic Stem Cell Transplantation in Female Sickle Cell ... - Cureus
80% of rare diseases are genetic. That’s why whole genome sequencing can help with diagnoses – GPB News
Jansen Jones wasnt using her hands or legs.
She lacked muscle tone and was too weak to bear weight using her extremities.
The baby could lift and move her head, but she didnt seem as strong as a 5-month-old should be, her mother believed.
"She is my third child," Suzanne Jones said, which means she's witnessed developmental milestones twice previously.
Doctors at Childrens Healthcare of Atlanta diagnosed Jansen with a nonspecific, global developmental delay.
We were just told, She's behind. No big deal. Do some physical therapy, Jones said.
But a lot of babies seem really strong, and it was clear to Jones that Jansen was not.She would curl up in a sort of ball, and sat looking sweet and happy, but did not engage with her environment.
A neurologist said a muscle biopsy might explain the deficiency, but there are false positives with muscle biopsies.
"That is invasive and leaves a scar and scared us," Jones said. "You know, you're basically cutting on her arm or leg."
When Jansen didn't babble as expected, they started speech therapy. Then, they added occupational therapy.
"We just did hours and hours of therapies nonstop for years," Jones said.
A neuro-psychological exam led doctors to say Jansen was intellectually disabled.
This happened about the same time as rare, fleeting seizures caused Jansen to space out for a second or two.
An electroencephalogram (EEG) test confirmed abnormal electrical activity in her brain.
"Well, they just said she has epilepsy," Jones said.
But Jones said the family continually witnessed symptoms that suggested that Jansen was struggling in different ways.
The idea of genetic testing came up by the time Jansen was 3 years old.
"In my opinion, if it's genetics, that's the underlying cause of everything and so that should show us what is going on," Jones said.
Jones doctors described the 46 chromosomes in the body as chapters in a book. Whole exome sequencing was like scanning the book to see whether any chapters were missing or duplicated.
For example,the characteristic features and developmental problems of a person with Down Syndrome is caused by an extra chromosome 21.
Think of that as Chapter 21.
But after having Jansen's whole exome sequenced, they still had no solid answers.
"And so we got results back when she was 3 and it did not show us what was going on," Jones said.
All the Joneses could do was treat Jansen's symptoms, which included behavior problems.
Despite managing Jansen through applied behavior therapy and medication, Jansen acted out and shecouldn't control it. Nightmares made her want to sleep in bed with her parents.
"It's not clear to me why the whole exome sequencing didn't catch it," Jones said. But it's not an infallible test.
An exome is a collection of 180,000 exons responsible for protein coding, but the human exome only comprises about 1% of the human genome.
Now, whole genome sequencing is available.
"And that is what ended up catching it," Jones said.
Jansen was diagnosed just before her 11th birthday with a disorder caused by a single gene mutation: SYNGAP1.
"This mutation was discovered only a year before Jansen was born."
Jansen's frustration stemmed from an inability to reason and communicate.
She turned 13 in October 2023.
"It's not easy," Jones said. "They have a SYNGAP snap. Sometimes their brain just [goes] haywire. And you can't you can't reason with somebody who can't reason. So behaviors can be really difficult."
"Compared to other single-gene mutations that cause epilepsy, SYNGAP1 children have a lot of problems with behavior," Jones said. "And luckily with that being a spectrum, my child has those issues, but it's not constant; it's not as prevalent."
If you have a rare disease, there is an 80% chance that its genetic. That doesnt mean the cause has been identified yet.
Karen Grinzaid with Emory University School of Medicine said she believes everyone planning a family should conduct genetic testing.
"The reason is there are genetic diseases that can happen that haven't shown up in your family yet," she said.
We all carry a number of recessive genes, but we don't know what those genes are unless either we have an affected child, or we do genetic testing.
But a whole genome test like Jansens might make would-be parents more nervous than is necessary.
"When you do broader testing like that, it may turn up problems where it's not clear what the implications are," Grinzaid said. "So, I just can't overemphasize the importance of genetic counseling to help people through this journey."
Suzanne Jones said even though her daughters diagnosis hasnt changed her daughters developmental issues, the genomic sequencing was worth it.
"It's an answer," she said. "We can finally say we understand what all these different symptoms are caused by."
And that, Jones said, makes it a lot less scary to be a parent.
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80% of rare diseases are genetic. That's why whole genome sequencing can help with diagnoses - GPB News
Personalized care and treatment plans – DVM 360
Sponsored by Embark
Adam Christman, DVM, MBA: We're chatting so much in this day and age about customized care, individualized care, and what does that mean now that we have in Embarks DNA testing kit available? What does that look like to the pet parent's perspective and to the veterinarian that we have now, like a customizable care program?
Jenna Dockweiler, MS DVM, DACT, CCRT, CVAT: So I think we've kind of evolved as a profession over time. You know, initially we practice medicine, and then we practice species-based care, as in cats are not small dogs. Then we started to practice breed-based medicine. Perhaps these things are more breed-associated than others. This is really the next frontier, so personalized medicine.
In addition to MDR1, there are other things that are on our genetic test that could offer some personalized care. One that comes to mind for me is a variant in the POMC gene that interferes with satiety. So if you have a fat lab who comes in, which we see every day, you're doing thyroid testing, the owner swears up and down, you know, they're not feeding the dog anything extra, but he's always hungry.
So this POMC gene really can interfere with satiety and just give a reason for why that pet might be constantly hungry and potentially, maybe overweight. I find it's very helpful to point to something to say, "Hey, this is why your dog maybe has trouble with feeling full." So he's not actually starving, you know? So we can follow this weight management plan.
Adam Christman, DVM, MBA: Yeah, I love that.
Lindsey Kock, DVM: That is one of my favorite studies because if you dig into it, they used assistant dogs in that study and they found that dogs who were really trainable had that POMC mutation, but it makes sense, right? They were food motivated. And so, a lot of dogs that end up in assistance programs tend to be food motivated, tend to be easier to train. It tells us about satiety, and it tells us, you know, things that we wanna know about weight management.
But the other thing it tells us is making some training recommendations, right? So a dog who has the POMC variant might be more likely to be really trainable with food. But we may be able to talk to pet owners who have dogs that don't have that mutation about some other tactics that they can use for training too when they might be having a tough time at home. So it's interesting how when we learn about genetics, sometimes there's the second layer of other ways that that we can apply that information in practice, which is really cool.
Adam Christman, DVM, MBA: There's a practice that has this wonderful thought philosophy that says everyone is a VIP and it's very individualized for the pet and pet parent. And what they do is for every dog whether it be a rescue dog, from a breeder, a puppy, it's included in the initial visit that they already have the Embark DNA test there. What are your thoughts on that?
Jenna Dockweiler, MS DVM, DACT, CCRT, CVAT: I think that's a great way to, again, build trust between the client and the practice because everybody feels like the plan is really made together. This is individual for my dog specifically. It's not just the breed or the presumed breed mix. This is my dog so I think that's a great tactic.
Adam Christman, DVM, MBA: Yeah and because they get so excited when they see right and I, to your point, where we're just talking about the human animal bond and we want to bond with our clients in the exam room like that. You want to be excited for them and so having that discussion about genetic testing and being a proactive approach to care I think is so powerful. What are your thoughts on that?
Lindsey Kock, DVM: One thing I think about, too, is we tend to see trends carrying over from human medicine. So I think about how people's animals are parts of the family, right? And they expect them to get the same sort of personalized treatment that a family member may have gotten or that they may have gotten. And so I think, as human medicine becomes more personalized, and we start to use genomic testing in different areas of human medicine, it's important to understand how that is going to impact clients' expectation of us as veterinarians too.
For me, this plays into expectations for personalized care based on things that those clients may seek out if they've done a consumer DNA test. If they've looked at their microbiome, if someone in their family has gone through treatment for cancer and they've done personalized care. So I think the more we start thinking about this type of technology and how we can apply it, I think it's fair to think about the big picture too and client expectations.
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Personalized care and treatment plans - DVM 360
Genetic Testing – Mayo Clinic Health System
Know your numbers: Family health history
Genes play a role in your health. Understanding your family's heart and health history is key to understanding your risk of heart disease. Find out which relatives you should talk to about family health history.
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Genetic Testing - Mayo Clinic Health System