Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
Woman, 22, Diagnosed With Rare Blood Cancer After Developing 'weird' Symptom On Vacation: EXCLUSIVE
At the end of 2021, Johanna Mendoza, then 22, was in Mexico on vacation when she developed little red dots on her wrist.
"I thought maybe I just ate something that was no good for my body," the 25-year-old from Inglewood, California, tells TODAY.Com.
Then the splotches began appearing other places on her body. When she returned home, she visited the emergency room and was diagnosed with acute lymphocytic leukemia (ALL). She was told she needed a blood stem cell transplant to treat it.
"I was definitely surprised," she says. "(It) was definitely scary."
Johanna Mendoza received an impartial bone marrow donation from Catherine Vega, which treated her acute lymphocytic leukemia. The two recently met at a conference. Courtesy NMDP Red blotches on skin reveal cancerEven though Mendoza never experienced any serious allergies, when the red splotches first appeared on her wrist, she wondered if that was the cause.
"I thought maybe I was having some type of reaction to something that I ate," she explains. "It was a weird thing."
Then the red dots appeared all over her body. "That made me worry," Mendoza says.
A day or so later, she went to the doctor in Mexico, and after some bloodwork, she was told she had low platelets, cells in the blood that help with clotting and in low amounts can indicate a medical problem.
At the end of her vacation, Mendoza return to California and visited the emergency room in early 2022. Doctors there also ran tests and became troubled by what they found.
"They actually told me that I was not going to be able to go home. They wanted me to stay overnight for more bloodwork," she recalls. After more tests, Mendoza remembers the doctor telling her, "I see something concerning, but I don't want to tell you yet until I get a positive result."
Soon Mendoza learned she had ALL, a quick-progressing cancer of the blood and bone marrow. At first, she needed to receive numerous blood transfusions to bolster her blood platelet count, and she stayed in the hospital for more than two months.
"My platelets were very low," she says. "I was stuck in the room."
Being isolated in the hospital also protected her because her immune system was compromised. Doctors worried that if she developed an infection, she would become sicker.
While she knew why it was important to stay in the hospital, she struggled at times. "It was definitely very hard on me," Mendoza says.
Once her platelet count was high enough, she went home. But she still needed to undergo chemotherapy and a bone marrow transplant. Initially, she thought her twin sister could be her donor, but they learned that they were not actually a good match.
Having ALL meant Johanna Mendoza needed to spend months in the hospital for various treatments. She felt relieved when she finally received a stem cell transplant and the new cells took over in her body and she could go home.Courtesy Johanna MendozaThey also considered her half brother as a possible donor, but he wasn't a match either. Doctors enrolled her a clinical trial looking at partial matches for people needing bone marrow transplants.
"We actually found one really quickly, which was shocking," Mendoza says. "I thought it was going to be a longer process."
Partial bone marrow matchesWhen it comes to bone marrow transplants, also called stem cell transplants, finding a match can be difficult. Stem cells mostly live in bone marrow, the center of the bones.
Traditionally, these transplants require the donor and the recipient to share an HLA type, according to NMDP, formerly known as the National Marrow Donor Program and Be The Match. HLAs are a type of protein found on most cells throughout the body. A perfect match, which has long been the standard, means eight out of eight HLA markers match, Dr. Steven Devine says. But finding perfect matches can be challenging.
"Not everyone can find even a match," the chief medical officer of NMDP, which sponsored the clinical trial Mendoza was in, tells TODAY.Com. "Outcomes are better … if you get transplanted using either a matched sibling ... Or a match volunteer unrelated donor."
Devine says only 30% of patients, though, have a family match. Finding a random match can take time and be difficult depending on a person's race. White people, for example, have an 80% chance of finding a match on a donor registry, whereas Black people have only a 29% chance and for Asian or Hispanic people, like Mendoza, it's slightly less than 50%.
"There's a big gap in the likelihood of finding what we would have historically considered to be a perfectly matched donor," Devine says.
To address the gap in access, NMDP spearheaded the trial to see if people could receive a partial match and still have a successful outcome.
"We said, 'Well, we have to find ways to improve outcomes with using donors who are less than perfectly matched,'" Devine recalls.
When the donor is not a perfect match, the patient can experience what's called graft-versus-host disease (GVHD), he says. This occurs when the donor cells attack the recipient tissue, according to the National Institute of Health. It affects multiple systems in the body and ranges in severity from mild to life-threatening, the Leukemia and Lymphoma Society says.
"Traditionally, the rates of GVHD have been much much higher if the donor ... Isn't matched fully," Devine says.
The clinical trial that Mendoza was in looked at whether giving the chemotherapy drug cyclophosphamide on the third and fourth days following a stem cell transplant can prevent GVHD. Giving the medication post-transplant makes the body more hospitable and prevents a reaction from the donor's T cells, part of the immune system, which contributes to graft-versus-host disease, Devine says.
"Doing that actually substantially lowers the risk of graft-versus-host disease, even using a donor who less than perfectly matches," Devine says. "It's been a game changer."
It could also have applications outside cancer, such as anemia or sickle cell disease.
While the trial investigating post-transplant cyclophosphamide in adults has been completed, the researchers are still looking at this in pediatric populations. Now, adult patients who were not involved in the research can receive this protocol if they can't find a perfect match. Devine says they've done transplants in people with seven out of eight HLA marker matches and as low as five.
"It's already being done now in our field as a standard of care," Devine says. "It means that more people have the potential to have access to a life-saving blood or bone marrow transplant."
Being part of an imperfect matchWhen Catherine Vega was a freshman in college, she submitted a saliva sample with Be The Match. Then she forgot about it. Five years later, she received a call that she was a match to a stranger.
"There were no second thoughts," Vega, 24, of San Antonio, Texas, tells TODAY.Com. "It's what I had to do. If I can help somebody, I will."
While Catherine Vega forgot she signed up to me a part of the bone marrow donor registry, she agreed to help a stranger immediately when she was asked. Courtesy Catherine VegaFor some stem cell transplants, the donor is put to sleep with general anesthesia, and a large needle is inserted into the hip to pull out the bone marrow, according to the American Cancer Society. In other cases, the donor takes medication to help the stem cells move from the marrow to the blood faster so the stem cells can be extracted directly from the blood.
After undergoing blood tests to make sure she could donate, she received the injections for a few days to boost blood cell and stem cell production in the body. On her donation day, she went to a hospital, where she sat for eight hours.
"You have needles in your arms obviously taking blood out (to remove the stem cells) and putting blood in," she says. "I slept most of it. It was pretty chill."
The next day, she returned for four hours and was done.
"They take the bags of your stem cells and then they transfer it and off it goes," she says. "And that's that."
Prior to receiving the bone marrow transplant on Dec. 9, 2022, Mendoza underwent two months of 24/7 chemotherapy. When she went for the transplant, she felt surprised that she just needed to receive six bags of fluid and it wasn't a more of a surgical procedure.
"It was smooth during that whole process," she says. "It was like an hour."
After undergoing the transplant and receiving the post-transplant cyclophosphamide, Mendoza needed to stay isolated in the hospital to avoid infection until the donated stem cells took over. That meant a lot of blood tests and waiting.
"It takes about two to three weeks … and you have to be patient," she says. "I was definitely not patient."
Luckily, she experienced a "Christmas miracle" and was able to go home on Christmas Eve.
"The transplant is the finish line," she says. "Once I got my transplant I was like, 'OK, so we should be good.'"
Mendoza had a bone marrow biopsy 100 days after her transplant and is now cancer free. She's sharing her story to encourage others facing challenges.
"Life throws you a curveball, but just because it throws it at you doesn't mean you have to give up," she says. "Keep going and keep crushing it."
CORRECTION (March 7, 2024, 10:17 a.M. ET): A previous version of this story misstated the definition of graft-versus-host disease. It occurs when donor cells attack recipient cells, not when recipient cells attack donor cells.
Man Sent Home With Depression By Doctors Actually Had Rare 'walking On Hot Coals' Condition
Dominic Moore, 28, was told by doctors that aplastic anaemia affects 'one in six million people and he was one of only five people in the UK with the condition at the time
Undated handout photo of Dominic Moore who wants to give back to the charity that 'saved (his) life'(PA)
A young sportsman who was diagnosed with a rare condition that makes him feel like he's walking on hot coals is now preparing to run the London Marathon.
Dominic Moore, 28, from Huddersfield says he first noticed bruises all over his body and blood blisters in his mouth a few days after celebrating New Year's Eve in 2015. His mother Sarah, a nurse, immediately booked a GP appointment, YorkshireLive reports. Yet Dominic, who is employed by Jet2, was first sent home with medication for depression.
Having visited another doctor and after taking multiple tests, he was told he had aplastic anaemia, which is where the bone marrow is unable to make enough new blood cells -with doctors saying he had just a few days to live without treatment. Dominic said: "I'd literally gone from being a healthy footballer, just living life at 20 years old, to that all disappearing overnight."
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Dominic Moore who experienced allergic reactions to platelets during treatments(PA)
Dominic Moore showing the bruises on his body on his first night in hospital(PA)
He received treatment at the Teenage Cancer Trust unit at St James's University Hospital in Leeds, which involved chemotherapy, a bone marrow transplant from an American donor, and numerous platelet and blood transfusions. Although the transplant was a success, Dominic experienced multiple side effects from the treatment, such as nerve damage in his feet, which led to a "burning" sensation when he walks.
Dominic was told by doctors that he had been "on death's door" several times whilst in hospital, however he has now set himself the challenge of running the 2024 TCS London Marathon to express his gratitude to the Teenage Cancer Trust.
"The main message is, there is a positive side after you've been through the treatment and I'm proof of that," Dominic said. "There were so many times I was told I'd probably die, but I'm not dead and look at me now."
Some of the medication that Dominic Moore was taking(PA)
When he was first diagnosed with aplastic anaemia in January 2016, he was transferred to the Teenage Cancer Trust unit at St James's University Hospital in Leeds, where he received treatment for the following two years. He said he was told by doctors that aplastic anaemia affects "one in six million" people and he was one of only five people in the UK with the condition at the time. Next two years.
He had to go through platelet and blood transfusions every day for six months, as well as six rounds of chemotherapy. But when these treatments all failed, it was decided a bone marrow transplant was required. His brother's bone marrow was not a match, but doctors reached out to the charity Anthony Nolan. Three suitable donors were discovered across the world in England, Germany and the US.
Dominic Moore during his procedure to remove two toenails(PA)
Most Read {{#articles}} {{/articles}}The American donor was the best match, and so they planned for the transplant to take place in September 2016, however because of a system outage it was delayed until next month. Dominic was told he was at "death's door" and could only have several days left to live. His family even considered paying to fly him to America for the transplant but Dominic said he remained determined.
"Life is precious and I went to six funerals in that first year, from getting close to people (on the ward) and people dying," said Dominic. "When you've been to so many funerals, and so many people have died who you've got really close to, you haven't got time to moan and complain. You're going to be upset, you're on death's door, but you can't feel sorry for yourself because as long as you're alive, there's always someone worse off." In October 2016, Dominic had the bone marrow transplant, which replaces bone marrow with healthy cells.
Dominic is preparing to take on the 2024 TCS London Marathon to raise money for the Teenage Cancer Trust(PA)
Dominic Moore outside St James's University Hospital in Leeds(PA)
He said the treatment only took around five minutes to complete. "As it stands now, I'm 98% American, which is brilliant," he said. But after his transplant, Dominic had to stay in the hospital for 40 days because he got a condition called Graft-versus-host disease. This happens when new white blood cells start attacking the patient's body.
He had to take up to 65 pills a day, including one called Rituximab, which was part of a trial. Thankfully, this medicine worked well for him and his health improved. However, Dominic has some lasting problems from his treatment including a "low platelet count" which means he is unable to play sports where he could get hit. This is as he could experience "blood clots and bleeds on the brain". In addition, the chemotherapy meant his toenails grew strangely and needed to be removed.
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Nerve damage in his feet means walking feels like stepping "on fire or hot coals." He said: "I've got a really low platelet count it does go up, and at the moment I have once a year check-ins, but they're nowhere near where they should be." He is unable to play his beloved football - but is thankful to still be alive. He credits positive thinking and the "amazing work and facilities" at the Teenage Cancer Trust for his survival. With fun things like a jukebox, pizza nights, a PlayStation 4, and pool competitions in the hospital, it helped him "forget" he was sick. This made him want to keep going and focus on "surviving".
Dominic Moore on the day of his bone marrow transplant(PA)
Dominic Moore's PICC line on his arm(PA)
Don't miss {{#articles}} {{/articles}}Even though Dominic felt he had to "start from zero" after his treatments, learning to live a new "normal" life and going back to work four years after finding out he was ill, he now really "appreciates" life more. He's really grateful to the person from America who gave him bone marrow because "he wouldn't be here if it wasn't for him". He also thanked staff at the Teenage Cancer Trust and the hospital because "they are second to none". He now intends to run the London Marathon in 2024, alongside is friend Jamie.
Dominic said: "I live on challenging myself, I don't want to get stagnant in life, and running the London Marathon is a challenge that I want to complete, and it's mainly for the ward. For the people after me, they need to keep that ward going... They've saved my life so the least I can do is try to raise some funds for them to keep it going." The Teenage Cancer Trust organises challenge events to raise important funds to support young people like Dominic through their treatment. To donate to Dominic's JustGiving page, click here.
What Do Leukemia Blood Counts Mean?
The results of a blood count can help diagnose or manage leukemia. They can also show how well your current treatment is working.
Leukemia is a type of blood cancer that begins in the bone marrow, where many blood cells are made. If you have leukemia, you may not make enough of some kinds of blood cells.
This cancer can also cause abnormal blood cells to form, crowding out other healthy blood cells in the bone marrow and spilling into the bloodstream.
Getting tested to find out your specific blood counts is important for diagnosing and managing leukemia.
Leukemia mainly affects white blood cells called lymphocytes. These immune cells help your body fight off infections.
When someone has leukemia, their body makes larger, abnormal cells called leukemic cells instead of lymphocytes and other necessary cells like red blood cells (to carry oxygen) and platelets (to help blood clot). This is why leukemia can cause symptoms like fatigue or excessive bleeding and bruising.
A healthcare professional may order a complete blood count test as a part of your routine medical checkup. This is because blood counts can tell a lot about your health. For example, too many white blood cells and too few red blood cells or platelet cells may mean that you have leukemia or your leukemia is not well-controlled.
Typical blood cell counts vary by age and gender. They can also temporarily change depending on whether you recently had a bad flu, infection, or even injury. The healthy blood cell ranges are shown in the table below per microliter (μl):
What CBC results indicate leukemia?If you have leukemia, your blood cell count may show higher than usual levels of white blood cells, which include leukemic cells.
However, you may also have a lower reduced number of white cells (leukopenia), red blood cells (anemia), or platelets (thrombocytopenia). If all three types are low, this is known as pancytopenia or cytopenia as follows per liter (L) or in grams per deciliter (g/dL).
That said, any value for these markers that's outside of the healthy range can be considered leukemia if your doctor cannot find a different cause for it, such as infection, for example. Your exact values also depend on the type of leukemia you have.
If you have higher than healthy levels of white blood cells and low counts of red blood cells and platelets, the doctor will order additional tests to get more information.
If you're having symptoms, this might reinforce the doctor's suspicion. These may may include:
If you have any or all of these symptoms, you may need certain imaging tests, including:
Your leukemia treatment plan will take several factors into consideration, such as your:
Your doctor will let you know how often you'll need to return for more blood tests. If you are diagnosed with leukemia, you may need regular physical exams and blood tests, so your doctor can watch for signs of disease progression or remission.
How well treatment is workingRegular leukemia blood count tests, such as complete blood count, are very important in the treatment process because they can help show:
Leukemia blood cell counts also help to show whether you need additional treatments. For example:
Leukemia is a type of blood and bone marrow cancer. You may not notice symptoms for a long time, if at all. This is why a complete blood count test can help show imbalances in your blood cells.
Different types of leukemia can cause your blood cell counts to be higher or lower than expected. If you have been diagnosed with leukemia, blood cell count tests can also indicate how well your treatment is working and if adjustments are needed.
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