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7 Rare Diseases Parents Might Pass To Their Children
Medical researchers discover new hope for families affected by inherited conditions that worsen over time, as breakthrough treatments emerge
When a child inherits a genetic condition, it often means both parents unknowingly carried genetic variations that, when combined, led to the disease. Modern genetic testing now allows families to understand their risk factors better, though many face difficult decisions about whether to pursue testing.
1. Cystic fibrosis affects breathing and digestionThis life-altering condition affects about 35,000 Americans, making everyday breathing a challenge. Children inherit it when both parents carry a specific gene mutation, though carriers often show no symptoms themselves.
The effects begin early, with thick mucus building up in the lungs and digestive system. New treatments target the underlying genetic cause, offering hope where once there was little. Recent breakthroughs include medications that help correct the faulty protein responsible for the condition, allowing many patients to breathe more easily and digest food better.
2. Duchenne muscular dystrophy changes childhoodPrimarily affecting boys, this condition begins showing signs between ages 3 and 5. Parents often notice their child struggling to run, climb stairs, or get up from the floor.
Recent medical advances bring new optimism. Gene therapy trials show promising results, and new medications help maintain muscle strength longer. Physical therapy and specialized equipment help children stay active and independent as long as possible.
3. Sickle cell disease impacts blood flowThis inherited blood disorder affects approximately 100,000 Americans, primarily those with African ancestry. Red blood cells become crescent-shaped, causing pain and potential organ damage.
Recent years have seen remarkable progress in treatment options. Gene therapy trials have helped some patients produce healthy blood cells, while new medications reduce pain crises and complications.
4. Polycystic kidney disease affects organsThis condition causes multiple cysts to grow on the kidneys, potentially leading to kidney failure over time. It affects about 600,000 Americans, making it one of the more common inherited disorders.
New treatments focus on slowing cyst growth and preserving kidney function. Lifestyle changes, including diet modifications and blood pressure control, help many patients maintain kidney health longer.
5. Neurofibromatosis causes tumor growthThis group of conditions causes tumors to grow along nerves throughout the body. It affects children and adults differently, with symptoms ranging from mild to severe.
Research continues to uncover new treatment approaches. Clinical trials testing targeted therapies show promise in shrinking tumors and managing symptoms more effectively.
6. Hemophilia affects blood clottingThis bleeding disorder, which prevents blood from clotting properly, historically limited life expectancy severely. Today, new treatments allow patients to live full, active lives.
Advanced therapies, including longer-lasting clotting factors and gene therapy trials, have transformed treatment options. Many patients now self-administer preventive treatments at home, reducing bleeding episodes significantly.
7. Early-onset familial Alzheimer's diseaseWhile most Alzheimer's cases occur later in life, this inherited form can begin in people's 30s or 40s. It affects about 200,000 Americans, causing memory loss and cognitive decline at an unusually young age.
Researchers focus on understanding how genetic mutations lead to early onset, developing treatments that target these specific genetic changes. New blood tests help identify the condition earlier, allowing for better planning and care.
Finding support and treatmentFamilies facing these conditions often find strength in connecting with others sharing similar experiences. Support groups, both online and in person, provide valuable resources and emotional support.
Medical centers specializing in genetic conditions offer comprehensive care teams, including genetic counselors, specialists, and mental health professionals who understand the unique challenges these families face.
Research brings new hopeClinical trials testing innovative treatments continue worldwide. Gene therapy, which attempts to correct faulty genes, shows particular promise for several conditions. While not yet widely available, these experimental treatments offer hope for future generations.
Scientists also explore ways to prevent these conditions from passing to future generations. New reproductive technologies help some families reduce the risk of passing on inherited diseases to their children.
Resources for familiesGenetic counseling helps families understand their risk factors and make informed decisions about testing and family planning. Many hospitals now offer specialized genetic counseling services.
National organizations dedicated to specific conditions provide educational resources, connect families with medical experts, and advocate for research funding.
Understanding insurance and costsMany families worry about healthcare costs and insurance coverage. Patient advocacy groups often help navigate these challenges, connecting families with financial resources and insurance specialists.
Recent legislation has improved coverage for genetic testing and treatment of rare conditions, though challenges remain in accessing some specialized treatments.
The future of treatmentMedical advances continue to transform how we treat inherited conditions. From gene editing to targeted therapies, new approaches offer hope for conditions once considered untreatable.
Research into early intervention and prevention strategies may help future generations avoid the most severe effects of these conditions.
Taking actionFor families concerned about inherited conditions, experts recommend: Speaking with healthcare providers about family history, consulting genetic counselors when planning a family, connecting with support groups and staying informed about new research and treatments.
ConclusionWhile inherited conditions present significant challenges, advancing medical science offers increasing hope. Families like the Chens find strength in each other and in the growing community of those facing similar challenges.
Through awareness, support, and advancing medical care, those affected by inherited conditions continue writing their own stories of resilience and hope.
For more information about genetic testing and counseling, consult healthcare providers or genetic counseling specialists who can provide guidance specific to individual situations.
Genetic Analysis Of 527 Cases Of Rare Bleeding Disorders: EAHAD 2025
A COMPREHENSIVE genetic analysis of rare bleeding disorders (RBDs) has shed light on the genetic profiles of 527 individuals from across 19 countries. This research was recently presented at the 2025 EAHAD Annual Congress in Milan, Italy.
Rare bleeding disorders, which account for 3-5% of bleeding disorders, have often been under-studied due to their rarity. However, researchers from the University of Milan and Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico sought to fill this gap with a study involving individuals suspected of having RBDs. The severity of the RBDs was based on the plasma clotting factor activity levels, and gene sequencing was used to confirm the diagnosis.
The study revealed that over half (55%) of the total 527 cases had severe factor deficiencies, while those with hypofibrinogenemia, dysfibrinogenemia, and FII deficiencies exhibited mild to moderate deficiencies. The most common deficiency was FVII deficiency (24%), with the rarest being FII and compound FV+FVIII deficiencies (6%). The study also highlighted that 86% of these conditions were autosomal recessive, with 22% of heterozygous cases showing severe symptoms, suggesting undetected variants.
Of the 261 unique variants identified, 85% were predicted to be pathogenic, and 12% were novel, especially in F13. Missense variants were most prevalent in the cohort, particularly in exons encoding catalytic domains. However, the study also found that 4% of cases had no detectable causative variant, pointing to the need for further research using next-generation sequencing (NGS) to fully understand the genetic mechanisms of these disorders.
Helena Bradbury, EMJ
Reference
Mohsenian S et al. Abstract PO267. Presented at EAHAD 2025 Annual Meeting; Feb 4-7; Milan, Italy.
Does Crohn's Disease Cause Blood In The Stool?
While not everyone with Crohn's disease experiences bleeding, it can be a common symptom. Treatment, including medications, food choices, or surgery, may help manage it.
Seeing blood in your poop can be concerning. For some people, this blood can be a symptom of Crohn's disease. Blood in the stool can also have other causes.
If you have a diagnosis of Crohn's disease, it's best to talk with your doctor about blood in the stool to determine the cause and get treatment.
If you think you have Crohn's disease but have not yet received a diagnosis, blood in your stool is unlikely to be the only symptom. Other symptoms of Crohn's disease can include:
This article will help you understand why some people with Crohn's get blood in their stool. Knowing which treatments are available can help you take action to feel your best.
Chronic, constant inflammation from Crohn's disease can lead to complications like ulcers, fistulas, and fissures throughout the digestive tract. These can cause bleeding, particularly in the lower intestines and rectum.
If you experience blood in your stool and have a diagnosis of Crohn's disease, it's best to talk with your doctor.
Ulcers
Chronic inflammation from Crohn's disease can cause ulcers to develop.
Ulcers can develop anywhere in the digestive tract, including the mouth and deep in the bowel wall. Many ulcers may develop in one area, or they may be spread out. They can also develop in one area, skip over an area with healthy tissues, and appear again in another part of the digestive tract.
Having ulcers throughout the digestive tract can cause serious bleeding. Chronic, low grade bleeding from multiple ulcers may lead to anemia. In rarer cases, large numbers of ulcers or heavy frequent bleeding can require surgery.
Fistulas
Fistulas are abnormal passageways that allow contents to bypass parts of the intestines.
Fistulas can begin as an infection in your digestive tract or result from abscesses or inflammation caused by ulcers or sores. They cause a fistula to develop between two organs or between one organ and your skin, such as an anal fistula.
Fistulas from Crohn's disease typically require surgery and medication to treat.
Fissures
People with Crohn's disease can also experience tears in the lining of the anal canal called anal fissures. These can result in bleeding or blood in an individual's bowel movements.
An anal fissure can also potentially affect the sphincter, the muscle that keeps the anus closed.
Some mild fissures caused by chronic diarrhea from Crohn's may go away on their own, but those from Crohn's usually require surgery.
Even if you don't have a diagnosis of Crohn's disease, blood in the stool can also result from other health conditions and other complications, such as:
Some of these can be more serious.
If you have a lot of blood in your stool, regularly have blood in your stool, or have blood in your stool with other concerning symptoms, it's best to talk with a doctor.
They may recommend imaging and other tests to determine the cause. Some causes, such as bowel obstruction, can become life threatening without prompt emergency medical attention.
Causes of blood in the stool relating to Crohn's disease often require medical attention.
Sometimes, people with Crohn's disease may have inflammation and swelling of the gums due to nutritional deficiencies. It's important to note that this doesn't mean people with Crohn's don't manage their diets, but rather inflammation in the GI tract causes problems with nutrient absorption.
Medications may also play a role in the mouth sores and bleeding some individuals with Crohn's disease experience, but more research on that is still needed.
It's possible to not experience any bleeding when you live with Crohn's disease.
Bleeding in Crohn's disease is less common than with ulcerative colitis, but it depends on where the inflammation is occurring.
When Crohn's disease affects the lower colon and rectal area, blood is more likely to be found in bowel movements.
Bleeding is most likely to occur when your Crohn's disease is active or flaring up.
It's important to let your doctor know if you notice blood in your stool or if you're experiencing symptoms of anemia, which may indicate bleeding elsewhere in the digestive tract.
If you have Crohn's disease, blood in your stool can indicate a complication like ulcers, fissures, or fistulas that may require medical attention.
If you're experiencing bleeding due to Crohn's disease, you may want to talk with your doctor. While there's no cure for Crohn's disease, they can help you find a treatment plan that minimizes your symptoms.
If you don't have a diagnosis of Crohn's disease but think the blood in your stool may be a symptom, it's best to make an appointment with a doctor so they can order diagnostic tests. Treating Crohn's disease can help reduce symptoms and damage to the digestive tract.
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