Unnamed Chromosomal Disorder With Melissa From Minnesota

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Melissa was 17 when she had her first child Evan.  Evan was born with a cleft palate and developed 30 other conditions throughout his life.  He wasn't expected to live and doctors told her to take him home and let him pass naturally.  She was given what she calls a never list (He will never sit up, he will never talk, he will never stand etc).  She was told she could have other children.  When she did become pregnant again when she was older in life she  had an abortion,  Her and her husband used protection, but she still got pregnant.  

Four months after Evan's birth he was diagnosed with a rare chromosomal condition that 4q deletionoesn't have a name.  She refers to it by the genetic code,  46xy 4q (32.3) 4 6 Trisomy.  Everyone has 46 chromosomes 23 from each parent.  The xy chromosome is the male chromosome ( This condition is passed down from the father).   Chromosomes are divided into arms The q arm is the long arm and the p arm is the long arm.  4q32.3 refers to the specific region of the long arm of chromosome 4.  4q deletion refers to an additional deletion of chromosome 4 on the long arm. 4q deletion causes growth delays, facial differences (Evan has stork bites which look like a rash, and cleft palate so he is on a feeding tube (g0-tube) , intelectual disabilities (Evan has autism and heart defects ( Evan had an enlarged heart which is now healed since his diagnosis with Carnatine deficiency ( an inborn error in metabolism) a Trisomy is a duplicate chromosome (much like with down syndrom has a extra 21st chromosome,  No 2 people have the same genetic code unless they are identical twins, so this condition will likely never have a name.  Without a name it will likely never have a treatment, thier are even more than the average financial burdens associated.. 'whereas it is typical for rare disease patients to feel alone, since they don't know anyone with thier condition normally.  This is even more likely in people with conditions like  Evan's.  

30 Million people have a rare condition in the US alone 400 million worldwide,  1 in 200,000 is considered rare, where as 1 in 50,000 is considered ultra rare. Rare realy is not rare.  The mascot for rare conditions is a zebra because no to zebras have the same pattern. A common condition is known as a horse.  Thier is a saying i  the medical field "if you hear hoof beats think horses, not zebras."  Combined rare conditions are more common than strokes and cancer combined.  Only 5% of rare conditions have an FDA approved treatment.  I do this podcast primarily to educate on rare diseases.  Doctors need more thana paragraph in a textbook.  People living with rare diseases are not likely to be taken seriously either.  A lot of rare disease patients are told it is all in your head.  Doctors don't have the time to learn about every rare condition nobody does their are to many of them.  With over 10,000 rare condions it would take a lifetime to cover them all.   Check out Melissa's book Who Cares? Available on Amazon and Barnes and Nobel.  Please Subscribe to my YouTube channel Rare Chef and My podcast Rare Connection.  Please also leave a comment I would love to know your thought of these episodes.  

#chromosomaldefect #rarediseases #4qdeletionsyndrome #ehelersdanlossyndrome #autism #storkbites #piererobin'ssyndrome
#eggallergy #feedingtube #carnatinedeficiency #teenpregnancy #disability

Chapter Markers

00:00 Intro
02:10 Genetic testing reveals Chromosome 4 deletion and Trisomy 6
03:20 Not compatibke with life
04:12 Melissa's son lived to be 12 years old and doing well
04:54 cleft Palate 
05:18 Teen mom advocate demands full exam
07:10 Why Melissa wrote Her book Who Cares?
07:42 Home Care
10:29

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