mitochondrial diseases

anonymous asked:

Does anyone else get dysphoria when realizing that I could not become someone's biologically father without being the one carrying them? It just hit me that I'll never be a "true father", and it kinda just :/

Ryn says:

Aha! So, anon, I totally get what you’re feeling here. It sucks. But a couple ideas I wanted to raise. Being an adoptive father is no less important than raising a biological child. There are literally hundreds of thousands of children who deserve loving families and parents. 
Now, if you’re set on one day having biological children, you still have a few options that are not carrying a child. You can undergo a procedure to extract and freeze some of your eggs, which then later can be fertilized either by your partner (if they can produce sperm) or by a donor, and then carried either by your partner (if they are able and willing) or by a surrogate.

Now, those are current possible options that are used by couples around the world today. Now, there are some assisted reproductive technologies that have a lot of future potential, and depending on research and funding and all of that, in the near future there are some possibilities that could take shape. 

Technology 1: Three Parent Babies- Now, this is currently used to avoid mitochondrial diseases, but there is the possibility in the future of allowing queer couples another chance. If you and your partner both produce eggs, the mitochondria (which contain their own DNA) is taken from one egg cell, and the nuclear DNA is taken from another egg, and then those are combined together in a single egg and fertilized by a donor sperm. The resulting child then has coding DNA from two parents and mitochondrial DNA from a third. 

Technology 2: Somatic Cell Nuclear Transfer- This is one of the more ethically shaky technologies. A somatic cell is any non-gamete (or sperm/eggs). Basically what happens is doctors would take a somatic cell (a skin cell for example) and remove the nucleus (where the DNA is housed) and place it into an egg cell which has had its nucleus removed. The egg cell then begins to divide as if it had been fertilized. The resulting embryo is then essentially a clone of the person who donated the somatic cell. In contrast to the three-parent baby above, this child would only have one biological parent. The embryo would then have to be carried to term either by you or by a surrogate. 

Technology 3: Artificial wombs- I am less familiar with this (as my bioethics class has not discussed it and I haven’t come across it in any of my other biology classes so far, just in personal research), but as I understand it, in the future we are hoping to be able to allow embryos to develop to term in an artificial womb, outside of a human body. This would eliminate the need for you or any future partner to carry the child or for you to find a surrogate. 

Technology 4: Somatic Cell gametogenesis- This is another technology I’m not super familiar with, but from what I’ve read, there is the possibility of taking a somatic cell such as a skin cell or muscle cell and reverting it to a stem cell state (iPS or induced pluripotent stem cells- happy to talk about those at a later point on my personal if anyone is interested). These induced stem cells can then be used to create any type of cell with your genetics, including gametes, or sperm and egg cells. Now, as I understand it, it should be possible to create both a sperm and an egg cell in this manner regardless of your birth assignment and of the gamete type you naturally produce. However, the thing to note is that for you, sperm cells produced in this manner will only carry X chromosomes, so if your partner is producing eggs (which always have X chromosomes), your child will be afab. 

So those are the possibilities that could start being used in the near future that could help you biologically father children without carrying them. Some already are being used- there are currently two three-parent babies alive, and I believe a third is on the way. 

This is all a long-winded and very science-y way of saying don’t lose hope. Science is advancing every day. I apologize for being so long-winded– I’m a biology student, and the first half of my bioethics class this semester was involving assisted reproductive technologies. We discussed a lot of what I talked about above in a lot of detail (the class is full of pre-med students and biology majors like me). I know I got very science-y here. Please feel welcome to ask follow-up questions here and especially on my personal for any clarifications. But anyway, whether you choose to freeze your eggs, adopt, or wait and see about somatic cell technologies, remember you are valid, and no matter what I know you will make an excellent father some day. 

I’ve spent so much of my time since my arterial rupture, neck deep in the medical system; barely treading water, but it’s gotten me so far. Things are getting close to as under control as they’ll probably ever be, given that my conditions are degenerative and progressive.

It’s time to really pull things around and live as hard as I can again. I think I’ve always done as much as I can to be authentically me, but this year I’m determined to get back some of what I’ve lost (whatever small amount I can). It’s time to restore balance.

I’ve already come so far in the past 3-4 months and after spending hours again this week wrapped up in medical stuff sapping my energy, I’m once again reflecting on when I can finally direct all my energy to my passions again. I may never have that luxury again, and I have to be okay with that, but what I’ve been pushing for this entire time, Quality of Life, is all about having the energy, time and freedom to have a life outside of the medical complex.

I’m almost there. I can feel it.

{please don’t remove my words}

MPs vote in favour of ‘three-person embryo’ law

MPs have voted in favour of making Britain the first country in the world to permit IVF babies to be created using biological material from three different people to help prevent serious genetic diseases.

In a historic debate, the House of Commons voted by 382 to 128 – a majority of 254 – to allow mitochondrial donation through a controversial amendment to the 2008 Human Fertilisation and Embryology Act. They approved the regulation in spite of some critics warning it was a step towards creating “three-parent” designer babies. The regulations will now have to be approved in the House of Lords, where they are likely to be passed.

Mitochondrial diseases are caused by genetic faults in the DNA of tiny structures that provide power for the body’s cells. The DNA is held separately to the 20,000 genes that influence a person’s identity, such as their looks and personality. Because mothers alone pass mitochondria on to children, the diseases are only passed down the maternal line.

The “three parent” IVF therapy, which could help to eliminate certain incurable genetic diseases, involves swapping a fraction of a mother’s DNA with that from an anonymous female donor. Around 100 children each year are affected by genetic defects in the mitochondria and in around 10 cases the defects cause severe illnesses such as liver failure, muscle wasting, blindness and brain damage.

1) Two eggs are fertilised with sperm, formulating an bud from a dictated relatives and another from a donors 2) The pronuclei, that enclose genetic information, are private from both embryos though usually a parents’ are kept 3) A healthy bud is combined by adding a parents’ pronuclei to a donor embryo, that is finally ingrained into a womb
Babies made from three people approved in UK
Three-person babies have been allowed only in cases where the risk of a child developing mitochondrial disease is very high.

Babies made from two women and one man have been approved by the UK’s fertility regulator.

The historic and controversial move is to prevent children being born with deadly genetic diseases.

Doctors in Newcastle - who developed the advanced form of IVF - are expected to be the first to offer the procedure and have already appealed for donor eggs.

The first such child could be born, at the earliest, by the end of 2017.

Some families have lost multiple children to incurable mitochondrial diseases, which can leave people with insufficient energy to keep their heart beating.

The diseases are passed down from only the mother so a technique using a donor egg as well as the mother’s egg and father’s sperm has been developed.

The resulting child has a tiny amount of their DNA from the donor, but the procedure is legal and reviews say it is ethical and scientifically ready.

Continue Reading.

Total shit gastro appointment. DONE.

I just had another shit experience with yet another doctor because of my weight. I was recently diagnosed with a severe case of gastroparesis (only 10% of my food is digested in an 8 hour period and it takes 5-6 days for me to poop out what I ate - tmi but just wanted to give the backstory) and the doctor acknowledged that. My other medical problems include: pituitary tumor, Cushing disease, empty sella syndrome, hydrocephalus, brain cysts, pineal gland tumor, mitochondrial disease (glutaric acidemia type 2, Hashimotos Disease, hypothyroidism, thyroid nodules, PCOS, endometriosis, metabolic syndrome, hypoglycemia, chronic headaches, asthma, depression, anxiety, degenerative disk disease, tachardia, heart rhythm, and my doctor suspects other problems as well due to the mitochondrial disease. Not a very short list, right? She looked at my list, shook her head and said, “you need to lose weight. You’re severely fat.” Yes, those words exactly. I have recently lost 50lbs from only living on jello and soup for months, but that’s not good enough. I also have extremely high cortisol levels from the pituitary tumor, which causes - surprise surprise - WEIGHT GAIN. So me losing any weight is a fucking miracle. Anyway, she said she doesn’t care about any of my other problems and that I need to get weight loss surgery. I’m like, um, I don’t eat? How is that going to help? She then told me I was disgusting and she expects me to lose 50lbs in three months. Yeah, let me just hop out of my wheelchair between bouts of vomiting my brains out and get on the treadmill. Sure! 👌🏼 I am so pissed right now. I’ve been to hundreds of doctors who just brush off my illnesses and tell me I’m fat and need to lose weight. NO SHIT! They don’t treat it as a symptom, which it is, and I’m tired of it. So fed up. 😤

How Huntington’s Disease Protein Could Cause Death of Neurons

Scientists at the University of Pittsburgh School of Medicine have identified for the first time a key molecular mechanism by which the abnormal protein found in Huntington’s disease can cause brain cell death. The results of these studies, published today in Nature Neuroscience, could one day lead to ways to prevent the progressive neurological deterioration that characterizes the condition.

Huntington’s disease patients inherit from a parent a gene that contains too many repeats of a certain DNA sequence, which results in the production of an abnormal form of a protein called huntingtin (HTT), explained senior investigator Robert Friedlander, M.D., UPMC Professor of Neurosurgery and Neurobiology and chair, Department of Neurological Surgery, Pitt School of Medicine. But until now, studies have not suggested how HTT could cause disease.

“This study connects the dots for the first time and shows how huntingtin can cause problems for the mitochondria that lead to the death of neurons,” Dr. Friedlander said. “If we can disrupt the pathway, we may be able to identify new treatments for this devastating disease.”

Examination of brain tissue samples from both mice and human patients affected by Huntington’s disease showed that mutant HTT collects in the mitochondria, which are the energy suppliers of the cell. Using several biochemical approaches in follow-up mouse studies, the research team identified the mitochondrial proteins that bind to mutant HTT, noting its particular affinity for TIM23, a protein complex that transports other proteins from the rest of the cell into the mitochondria.

Further investigation revealed that mutant HTT inhibited TIM23’s ability to transport proteins across the mitochondrial membrane, slowing metabolic activity and ultimately triggering cell-suicide pathways. The team also found that mutant HTT-induced mitochondrial dysfunction occurred more often near the synapses, or junctions, of neurons, likely impairing the neuron’s ability to communicate or signal its neighbors.

To verify the findings, the researchers showed that producing more TIM23 could overcome the protein transport deficiency and prevent cell death.

“We learned also that these events occur very early in the disease process, not as the result of some other mutant HTT-induced changes,” Dr. Friedlander said. “This means that if we can find ways to intervene at this point, we may be able to prevent neurological damage.”

The team’s next steps include identifying exact binding sites and agents that can influence the interactions of HTT and TIM23.

Being a creep in cool alley ways in the pouring rain.

{please don’t remove my words}

This week is Feeding Tube Awareness Week! Spread the Word!
For all the children and adults across the world who due to medical conditions can’t eat and drink, and rely on tubes to enable them to survive - please reblog!

October is Dysautonomia Awareness month, so I am going to bore you all with a little bit of information about it, because you have probably never heard of it, and it is important for those fighting that their disease be known. 
I have Postural Orthostatic Tachycardia Syndrome, or POTS, a form of dysautonomia. It is characterized by an array of debilitating symptoms due to the malfunction, or failing, of the Autonomic Nervous System, and the body’s inability to adjust to gravity (So clearly we should all pick up and move to the moon, haha). In short, anything a healthy body is able to do automatically, such as: digestion, oxygenation, regulation of blood flow and the heart, breathing, and so on, our bodies struggle to do. So little is known about this illness that most of the time when I meet a new doctor, or end up in the emergency room, I have to explain to the doctors what it is. POTS is never diagnosed without another disease, for it is a syndrome caused by the body’s inability to fight off another disease. There is no cure, and little to no treatment, but barely any research is being done. The only way to subside the symptoms is to control what is causing it, if that is even possible because POTS is often caused by other rare diseases. In addition, POTS patients are chemical resistant so limited medications can be taken without severe reactions. Instead POTS continues to break the body down, and before long the patient has a list of diseases to cope with; I have 7, a pretty severe case.
Getting sick changed my life and a cure would be amazing, but it all starts out with just a little bit of awareness. Though POTS is rarely a patients biggest health problem, it makes living a normal day-to-day life very difficult to say the least. If you read this far, thank you, sorry for the super long post. I hope this will help shed some light on all my hospital stays, or if you have ever witnessed one of my countless fainting or seizure episodes (Sorry about that— not my best moments).
Life isn’t always easy, but it is a beautful fight that I will surely win. I definitely could not do it without the help of my wonderful family and friends. If you have any questions feel free to ask, and Happy October!

This is my cousin Dylan Prunty. He has a mitochondrial disease that shuts down his immune and digestive systems. He deals with the pain and living in the hospital by playing and building with Legos. It’s his favorite thing in the world to do. Recently Chris Pratt visited him in the hospital and reenacted a few scenes of the Lego movie with him. I just thought id share with you all how awesome of a guy he is for doing this, he made one of my cousins dreams come true, and for someone who doesn’t know how long they have, that’s the best gift they can get.

Researchers Find Evidence for Deadly Malaria in Imperial Rome 2000 Years Ago

Researchers have confirmed the controversial theory that ancient Romans in the imperial era suffered from malaria. They found genomic evidence of the disease in mitochondrial DNA from teeth of three 2,000-year-old bodies from Italian cemeteries. Every year the disease still kills about 450,000 people.

Read more…

taylorswift This is Alexis aka Lexi, she’s 7 years old and suffers from Cyclic Vomiting Syndrome and mitochondrial disease. She has to be poked with needles everyday and has tons of surgeries and procedures. No kid her age should have to go through the stuff she has to go through, she’s so strong for her age. She has panic attacks when her mom isn’t around because she’s worried she’ll be hurt by the doctors, she can’t even go to school without the fear of being hurt. She has to be homeschooled or her mom sits in class with her all day. The thing that has kept her strong the most is music, specifically Taylor Swift! She sits during procedures and watches her music videos, she has helped her through so much! Her dream would be to meet Taylor! She lives 3 hours from LA so Taylor if you would like to meet her please email or message me on here for her moms contact info and phone number! Please make this little girls dream come true! #TaylorMeetAlexis taylorswift

For Savannah, a little girl with a rare form of mitochondrial disease.

Savannah has Complex I and Complex III Mitochondrial Disease. She was diagnosed 3 weeks after her first birthday but she has been fighting all of her life. Mitochondrial Disease has caused her body to experience poor growth, hypermobility (Ehler’s Danlos Syndrome Type 3), hypotonia, Eosinophilic Colitis and other gastrointestinal issues, hypoglycemia, asthma, immunodeficiency, chronic infections, seizures, dysautonomia, polydipsia/polyuria, dysphagia, reflux, vasso-constriction/dilation and lactic acidosis among other things.

She is an inspiring 5 year old girl and has had a rough time recently. Like many of us on Tumblr, she is a fan of Mary McDonnell. Mary brought Savannah to my attention and I’ve since followed her story. Like and reblog this for Savannah to show your support for this inspiring little girl.