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?? To all the wonderful Genetic Counselors I've encountered in my time as a genetics practice manager - We celebrate you!! ??

Your child and genetics: FACILITATING EDUCATED DECISION-MAKING A diagnosis will assist you in making well-informed choices regarding your child's care and health. It lets you plan and steer clear of any medications, foods, activities, and other stressors that can aggravate or cause symptoms. Future family planning decisions and the assessment of other family members may be influenced by the genetic evaluation findings. LEARN MORE >>> https://lnkd.in/ehH2KYkv #sequencemd #genetictesting #genetics #caremanagement #diagnosis #raredisorders #neurogenetic #raregeneticdisorders #metabolicconditions #chromosome15 #geneticdisorders #AngelmanSyndrome #Duplication15q #PraderWillisyndrome #childgenetics #geneticevaluation #geneticcondition #geneticevaluation #childgenetics #unexplainedsymptoms #irregularheartrhythm #hormoneissues #digestiveissues

Learn the ways a genetic evaluation helps you and your child. MEDICAL HISTORY AND PROGNOSIS INSIGHTS Parents and medical professionals can reassess and gain a deeper understanding of the child’s experiences and symptoms with a genetic diagnosis. It may also provide insight into a family’s previously unknown medical history. It also assists doctors and families in anticipating the course of the condition, as well as potential dangers and complications. Check out our blog post for additional insights about?genetic evaluations for children: https://lnkd.in/ehH2KYkv #sequencemd #genetictesting #genetics #caremanagement #diagnosis #raredisorders #neurogenetic #raregeneticdisorders #metabolicconditions #chromosome15 #geneticdisorders #AngelmanSyndrome #Duplication15q #PraderWillisyndrome #childgenetics #geneticevaluation #geneticcondition #geneticevaluation #childgenetics #unexplainedsymptoms #irregularheartrhythm #hormoneissues #digestiveissues

How can a genetic evaluation help you and your child? FASTER DIAGNOSIS Without genetic testing, finding a diagnosis for a child with a rare genetic disease is often time-consuming and costly. It’s tiring and frustrating for children and their caregivers. A genetic diagnosis allows families and doctors to focus on what matters. This means no more unnecessary tests and medical work-ups, saving time and expenses for everyone involved.? Learn more about?genetic evaluations for children via our blog post: https://lnkd.in/ehH2KYkv #sequencemd #genetictesting #genetics #caremanagement #diagnosis #raredisorders #neurogenetic #raregeneticdisorders #metabolicconditions #chromosome15 #geneticdisorders #AngelmanSyndrome #Duplication15q #PraderWillisyndrome #childgenetics #geneticevaluation #geneticcondition #geneticevaluation #childgenetics #unexplainedsymptoms #irregularheartrhythm #hormoneissues #digestiveissues

There are many instances in which you might consider a full genetic evaluation for your child. One example is when a child is admitted to the NICU or PICU, but the symptoms have no obvious cause. Unexplained symptoms are a?red flag that could suggest a genetic condition. In some cases, children with a rare disease can receive an inaccurate or incomplete diagnosis because doctors are unfamiliar with the signs of a genetic condition. If your child has a diagnosis but something seems strange — such as unexpected symptoms, a lack of the usual risk factors, or treatments that don’t work — a genetic evaluation may help you find answers. You may also want additional testing if you have a family history of a genetic condition or your child has: ? A diagnosis of an intellectual or developmental disorder ? A major or several minor birth malformations ? Unexplained seizures or other health concerns, including abnormally frequent illnesses ? Ongoing issues with one or more organs (like vision or hearing problems) ? Chronic behavioral or mood problems ? A neuromuscular condition that impacts movement ? Irregular heart rhythm ? Hormone or growth problems ? Chronic digestive issues On their own, these signs do not mean your child has a genetic condition. However, when your child’s health problems have no clear explanation, a genetic evaluation could reveal the cause and a path forward. Learn more about?genetic evaluations for children via our blog posting on the topic: https://lnkd.in/ehH2KYkv #sequencemd #genetictesting #genetics #sequencemd #caremanagement #diagnosis #raredisorders #neurogenetic #raregeneticdisorders #metabolicconditions #chromosome15 #geneticdisorders #AngelmanSyndrome #Duplication15q #PraderWillisyndrome #childgenetics #geneticevaluation #geneticcondition #geneticevaluation #childgenetics #unexplainedsymptoms #irregularheartrhythm #hormoneissues #digestiveissues

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 ???? ?????????????? ?????????? 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