- He takes care of himself, despite his very complex situation
Johannes' StoryHe takes care of himself, despite his very complex situation
Johannes' family health history gave him reason to be worried.
Johannes' family health history gave him reason to be worried. Lots of his relatives had serious genetic diseases which Johannes was at risk from. Most of his family had Myotonic Dystrophy (DM1), but lots of them also had additional genetic diseases, including:
> Motor Neurone Disease (MND)
> Myoadenylate Deaminase Deficiency (MDD) (a metabolic muscle disease);Hereditary Hemochromatosis (a toxic build-up of iron);
> Charcot-Marie-Tooth Disease (a peripheral nerve disease - of which there are 6 versions),
> Inflammatory Myopathy (Muscle inflammation disease)
> Duchenne, Beckers, and Thomsen (progressive muscular dystrophies)
WIth such a complex, worrying family medical history, Johannes decided to dig deeper into his genetic makeup, seeking help from a public hospital
Johannes said: The hospital was supposed to have the most advanced genetic department in the country, but unfortunately, they only looked at one gene at a time, and their research was based on blood or muscle samples alone. [...] Reflecting back on some of my past diagnoses and then comparing them to my symptoms [...]; they didn’t match up. My genes needed looking at again.
After an unproductive first-experience in genomic research, Johannsen decided to find an independent, professional Whole Genome Sequencing company.
That’s how he found Stripe2be.
Johannsen registered with Dante Labs online, activated his account, sent off his swab, and after just a few weeks, received a detailed WGS report from Dante Labs which provided extra information on the specific genetic diseases concerning and affecting him.
"This information has now been acted upon. The information I received from Dante Labs was like a Goldmine."
Johannsen then swiftly booked appointments with two separate geneticists to get opinions on his results. Johannsen’s feedback: My geneticists were very impressed with the data that I had received from Dante Labs. I would like to thank Dante Labs for being so helpful, for providing me with excellent, accurate genetic data, and for the surprising discovery that I have:
> Noonan Syndrome - resulting from an A2ML1 gene mutation – often linked to unusual facial features, short stature and heart defects,
> RUNX1 Deficiency - resulting from RUNX1 gene mutations – which is related to different types of Leukaemia and related blood disorders.
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At Stripe2Be we provide Whole Genome Sequencing (WGS), analyzing 100% of your DNA. It is the most comprehensive, detailed type of genetic test available. We break down your WGS data into 5 easier-to-read reports which are all about your individual Stripes.