LP Doc Talk: Dr. Michael Bober | Growing Stronger
Growing Stronger
LP Doc Talk: Dr. Michael Bober

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  • Dr. Michael Bober, Geneticist, Nemours/Alfred I. DuPont Hospital for Children
    • Questions & Answers on 9/25/2015
      • My son has Spondyloepiphyseal Dysplasia Congenita, or SEDc, and my question relates to the Biomarin drugs. Are they specifically for achondroplasia? If so is there any development on a similar drug for SEDc.
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      • Where can you find the dwarfism treatment? Doesn't it have side effects? Which food can a person eat that the food could or would support his or her growth hormone? What specialist can help with this kind of medication?
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      • I have I have an 18-month-old son who has been diagnosed with a metaphyseal chondrodysplasia Sedaghatian type. I was wondering if there is someone in your group who has the same syndrome and could tell me a bit more about it.
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      • My 2-year-old with achondroplasia has excessive amounts of fluid in her ears! I know this is normal for Achons. However we went 6 months trying to clear an ear infection and finally did. But anytime we go for another hearing test, the audiologist looks in and says way too much fluid. She has tubes put in both ears. Are the tubes not working, or is it normal for her to still have excessive amounts with the tubes placed?
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      • I have Achondroplasia. I am 4' tall and weigh 92 lbs. I am 58- years-old and work full time. I have had two back surgeries; one in 2009 and a second in 2012, both were to relieve pressure in my lower spine that was causing extreme pain and numbness. I exercise daily by walking, yoga, swimming or biking. I tire more easily than I would like to and am getting concerned about this. I am rarely sick and was discharged by my neurosurgeon a year ago. Should I be concerned in the increase in fatigue and decrease in stamina? Thanks for any direction.
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      • What are they doing in the research and development for SED? Are they looking for a treatment?
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      • My son was seen by doctors in 2010. At that time the doctors stated he didn't fall in any category. I was in the Army when they sent us to see you all. What can we do to see if he has developed anything that puts him in a category? He is 15 now and 4-foot 2- inches. No one is able to tell us if he is going to grow more or not or able to give us any type of more information. I know that through the years his genetic doctor sent x-rays and blood work to the doctor who had had been following him those years, but now the doctor has retired and the new genetic doctor hasn't really told us anything except that he won't grow anymore. What can we send a new doctor to look at so he/she can give us an opinion?
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      • My nephew was diagnosed with Achondroplasia in November of 2012 and turned 3 in April of this year. Do we have any treatment for this condition? Suggest the way forward.
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      • Dear Doctor, I want to know about BMN111 for achondroplasia for my baby girl who is diagnosed as the same. Could you please give me information on how can I take benefits of the drug for my child
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      • Is there any medicine or cure for achondroplasia? What are the chances of having another baby with another form of gene mutation if you have one achondroplasia boy?
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      • Is it true that there is an increased risk of chromosomal abnormalities in the offspring of a couple who already have one child with Achondroplasia?
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      • When working with physical therapists through early intervention who may not have experience with/knowledge of achondroplasia, what should I, as the parent of a little person, instruct them to watch out for or keep from doing? For example, when is assisted sitting an OK exercise? How do I know if something is pushing my child too far or just enough to assist with strengthening?
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      • If a child has no decompression issues, are they out of the woods as an adult? If not, what are signs to be aware of and should achondroplasia patients have MRI's every so often?
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      • Do kids with achondroplasia have growth spurts like average height kids?
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      • Do the bones of children with achondroplasia heal faster than average height bones? Does it make a difference between girls and boys?
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      • Do you know of any differences between people with G to A achon mutation vs. G to C achon mutation? Have any differences been noted?
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      • Is there any connection between hypochondroplasia neonatal seizures and learning disabilities?
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      • My daughter has achondroplasia and suffers sever leg pain at night. Is there anything you can suggest that will help her?
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