SequenceMD

How to Know Your Child Needs a Genetic Evaluation: Nearly every baby born in the U.S. now undergoes genetic newborn screening: https://lnkd.in/eNyPh2W5 But did you know those tests only cover a fraction of their genes?  While specifics vary by state, these newborn tests typically cover 30 to 50 diseases. For some children, that testing is sufficient. However, humans have approximately 20,000 genes, and researchers estimate that over 10,000 genetic disorders exist. In essence, you aren't getting a complete picture from newborn screening. Genetic disorders may go undetected since the testing isn’t exhaustive.  Learn more about genetic evaluations for children via our latest blog posting here: https://lnkd.in/ehH2KYkv #genetictesting #genetics #sequencemd #caremanagement #diagnosis #raredisorders #neurogenetic #raregeneticdisorders #metabolicconditions #chromosome15 #geneticdisorders #AngelmanSyndrome #Duplication15q #PraderWillisyndrome #childgenetics #geneticevaluation

SEQUENCEMD SPOTLIGHT: Erin Jahahn, MS, CGC | Genetic Counselor In May, Erin joined the SequenceMD team to help patients navigate and understand their genetic journey. Read about her background in genetics and how she helps people uncover the health and diagnosis answers they’ve been seeking. WHY DID YOU DECIDE ON A GENETIC COUNSELING CAREER? Genetic counseling combines my key interests: biology, psychology, education and interpersonal connections. Also, with a background in basic research, I wanted to transition into a role where I could see a more immediate impact on the community. WHAT INTERESTED YOU ABOUT WORK RELATED TO RARE DISEASES? I find great satisfaction in giving a voice to individuals who are often overlooked and have faced long diagnostic journeys. Working with rare diseases is rewarding because it challenges conventional thinking and stresses exploring less obvious possibilities. I appreciate the concept of looking for the ‘zebras’ in the world because it encourages us to explore ideas that might be overlooked. WHAT INTERESTS YOU ABOUT WORKING IN THE HEREDITARY CANCER FIELD? Working with patients experiencing hereditary cancer has been incredibly meaningful to me professionally and personally. Having recently lost my dad to cancer, I understand the profound impact it can have on families. Also, identifying families with hereditary cancer syndromes offers an opportunity to help break the cycle of cancer diagnoses across generations. WHAT MAKES PATIENT WORK SPECIAL? In genetic counseling, I have the privilege of connecting with people daily, and it’s incredibly rewarding to make a meaningful difference in their lives. Whether helping them understand complex information or simply providing a listening ear and support, these connections make patient work special. WHAT COMMUNITIES HAVE INFLUENCED YOUR WORK, AND HOW CAN YOU HELP THEM? Growing up in a small town with limited access to genetic services has strongly influenced my desire to support rural communities. Telehealth has been a game-changer, allowing me to extend services to those with difficulty accessing them. #geneticcounseling #raredisease #sequencemd #diagnosis #hereditarycancer

10. Focus on Your Mental Health Mental health issues can arise if you feel unheard by your doctor. One way to cope with the stress and frustration of dealing with complicated health concerns is to speak with a mental health specialist. For the complete ten steps you can keep in mind to support the medical attention and care you need and deserve, check out our blog post: https://lnkd.in/ez2x8pxN #sequencemd #SequenceMD #TenGeneticDiseaseRedFlags #adultgenetics #geneticdiagnosis #raredisease #raregeneticcondition #inheritedgeneticconditions #symptoms #genetictesting #genetics #caremanagement #diagnosis #raredisorders #neurogenetic #raregeneticdisorders #metabolicconditions #geneticdisorders #hereditaryconditions #primarycarephysician #patientadvocacy #patientresources

9. Research Patient Resources Finding your people — the organizations and resources dedicated to patient advocacy — is another step you can take when you feel like your doctor is not hearing you.  These support networks can offer information, assistance — and in certain cases — legal counsel if you have trouble receiving the care you need. Among the most well-known organizations in this area in this field is the Patient Advocate Foundation (https://lnkd.in/eVd4_xF). Other steps you can take to advocate for the medical attention and care you need and deserve can be found in our recent blog post: https://lnkd.in/ez2x8pxN #sequencemd #SequenceMD #TenGeneticDiseaseRedFlags #adultgenetics #geneticdiagnosis #raredisease #raregeneticcondition #inheritedgeneticconditions #symptoms #genetictesting #genetics #caremanagement #diagnosis #raredisorders #neurogenetic #raregeneticdisorders #metabolicconditions #geneticdisorders #hereditaryconditions #primarycarephysician #patientadvocacy #patientresources

8. INVESTIGATE RARE OR GENETIC DISEASES A doctor can't be aware of every illness, especially regarding rare or hereditary conditions. (Experts calculate that there are more than 10,000 genetic illnesses!) If there’s no clear-cut diagnosis for your symptoms, it’s worth looking into the potential of a rare or hereditary condition. This is particularly true if there are no typical risk factors or symptoms for your disease or if other family members have experienced comparable health problems. For more steps you can take when you feel as if your doctor isn’t listening to your needs, check out our last blog post: https://lnkd.in/ez2x8pxN To get a genetic evaluation, you can either ask your doctor for a recommendation to a medical genetics practice or find one on your own. Our blog (https://lnkd.in/ev6vvdZQ) has more information regarding genetic diseases, including a list of 𝟏𝟎 𝐰𝐚𝐫𝐧𝐢𝐧𝐠 𝐬𝐢𝐠𝐧𝐬 that could point to a genetic condition (https://lnkd.in/er2MBiaq). To talk with the clinical genetics team at SequenceMD, call us at 303-832-7109 or send us an email anytime: https://lnkd.in/eitJVQTs #sequencemd #SequenceMD #TenGeneticDiseaseRedFlags #adultgenetics #geneticdiagnosis #raredisease #raregeneticcondition #inheritedgeneticconditions #symptoms #genetictesting #genetics #caremanagement #diagnosis #raredisorders #neurogenetic #raregeneticdisorders #metabolicconditions #geneticdisorders #hereditaryconditions #primarycarephysician

If you feel your doctor isn’t fully listening to you and understanding what you’re experiencing with your health, there are steps you can take to improve things: https://lnkd.in/ez2x8pxN 7. ASK FOR OTHER VIEWPOINTS It might be time to get a second opinion from a specialist if you continue to feel neglected or unheard, your disease becomes worse or stays the same despite therapy, or your symptoms are discounted without a full examination. Getting a new viewpoint from a different healthcare provider with specialized knowledge can be helpful, particularly if your illness is uncommon or complicated. It might be challenging to speak up for yourself, particularly when you’re not feeling well. Stay strong and never forget there are people who can help. Contact us by email or at 303-832-7109 to schedule a consultation with the clinical genetics team at SequenceMD, a practice created to support patients with rare and hereditary conditions. #sequencemd #medicalconsultation #raredisease #healthcare #comprehensivehealthcare #clinicalgenetics #genetictesting #genetics #symptoms #primarycarephysician

If you feel disheartened, helpless or frustrated after meeting with your doctor — especially when dealing with chronic symptoms or a condition that impacts your quality of life — you’re not alone. Learn about the steps you can take to make the conversation with your physician productive: https://lnkd.in/ez2x8pxN 6. STAND UP FOR WHAT YOU NEED Your greatest advocate is you. If your doctor doesn’t seem to understand or listen to you, don’t hesitate to speak up. Saying things such as, “I feel like my concerns aren't being fully addressed. Can we investigate this more?” is absolutely appropriate. It’s acceptable to speak up for your needs and your health. You deserve compassionate, all-encompassing treatment and to be heard. For a consultation with the clinical genetics team at SequenceMD — a practice established to assist patients with hereditary and uncommon disorders — contact us by email or at 303-832-7109. #sequencemd #medicalconsultation #raredisease #healthcare #comprehensivehealthcare #clinicalgenetics #genetictesting #genetics #symptoms #prmarycarephysician

Taking Action to Reduce Cancer Risk and Improve Outcomes: When a patient's genetic risk is identified, healthcare professionals can collaborate with their patients to create proactive screening and preventative plans. People can save a great deal of worry and money on medical bills by taking a proactive approach, which also increases the likelihood of living a longer, healthier life. You can learn more by clicking on the link: https://lnkd.in/e6_SqeyJ #genetics #genetictesting #cancerrisk #cancersyndromes #hereditarycancer #cancerriskassessment #dnasequencing #medicalgenetics #sequencemd #geneticevaluation #cancerprevention #cancerdiagnosis

Here’s another recommendation for making the most of your doctor’s visit: 5. LONGER APPOINTMENT Ask for an extended appointment if you feel hurried when visiting your doctor. Certain practices offer longer visits to patients with numerous concerns or complex issues. This additional time can help you and your physician discuss your case’s specifics. For the complete list of ways to improve the conversation with your physician, check out our most recent blog post: https://lnkd.in/ez2x8pxN SequenceMD understands that advocating for yourself can be difficult, especially when you aren’t feeling well. But you’re not alone in this journey. For a consultation with the clinical genetics team at SequenceMD — a practice established to assist patients with hereditary and uncommon disorders — contact us by email or at 303-832-7109. #sequencemd #medicalconsultation #raredisease #healthcare #comprehensivehealthcare #clinicalgenetics #genetictesting #genetics #symptoms #prmarycarephysician

Feeling unheard by your doctor? Here’s what you can do.: https://lnkd.in/ez2x8pxN 4. INVITE A HELPER It can sometimes be helpful to bring a friend or family member to your doctor’s visit. They can provide moral support, help you remember the details of the discussion, and even advocate on your behalf if you feel overwhelmed. Advocating for yourself can be difficult, especially when you aren’t feeling well. Stay strong, and remember you’re not alone in this journey. For a consultation with the clinical genetics team at SequenceMD — a practice established to assist patients with hereditary and uncommon disorders — contact us by email or at 303-832-7109. #sequencemd #medicalconsultation #raredisease #healthcare #comprehensivehealthcare #clinicalgenetics #genetictesting #genetics #symptoms #primarycarephysician