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

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  • Dr. Michael Ain MD, Johns Hopkins Hospital
    • Questions & Answers on 4/23/2013
      • My son is 18 months old. He walks, sits up straight and is progressing above average for achondroplasia. He is right on with development expectations. He has had 3 sleep studies done of which the first two showed central sleep apnea worsening in the second. The third sleep study done at 17 months showed it has disappeared. All 3 showed mild obstructive sleep apnea. He has not had a TA surgery yet. His sleep study for OSA actually decreased by half, as well in the third study. He does not seem to be breathing any better when we roll the towel up and put it behind his head which indicated to me it might be considerably in his facial area. He has had two MRIs, both of which showed above average CSF flow for achondroplasia with no signs of compression at all. He sees Dr. Paul in Akron, Ohio yearly but his main care is at University of Michigan. He saw Dr. Hudgins (neurosurgeon at Akrons) and he indicated that he would not need additional MRIs and that he most likely would outgrow the CSA, which was accurate. His neurosurgeon at University of Michigan suggested yearly MRIs to monitor for compression. What are your thoughts on this? If signs look good do you recommend yearly MRIs?
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      • I have hypochondroplasia but my mom has achondroplasia and my dad does not. I want to get pregnant, my partner is normal and I would like to know what are the chances of the child to be born normal? And is it possible to do a genetic prenatal diagnostic of natural pregnancy or does it need to be in vitro? My third question is, where are all these tests can be done if the answer is yes.
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      • I have a 2 year old son who was initially diagnosed achondroplasia and then changed to SED congenita then it was changed again to SEMD but was not confirmed. Would the present drugs BioMarin or others be able to treat this variant case? How soon will this drug be expected to be available? And how much it’s going to cost?
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      • Dr. Ain I am curious, what are your thoughts about limb lengthening in pseudoachondroplasia? Some but not all doctors will do this and would like to know your thoughts or opinion.”
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      • I am 15 year old achondroplastic girl. I wanted to ask about the surgery that can make me taller. I want to know more details about it please. Is it too late as I am 15? And this is from Cairo, Egypt. And the question is that the things that could make you taller?
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      • Hi all. My son is 4 and a half and has achondroplasia, very active boy who loves all sports a typical 4 year old playing, running, etc. He has bowing of his knees (genu varum) which seems to be due to ligament laxity at knee joints, not due to bones in lower legs according to his orthopedic consultant. They have recommended bracing of his legs to try and correct his bowing. He never complains of pain in his legs as I said he is an extremely active happy boy. We feel that bracing would restrict him greatly. I completely agree. However if it’s something that will prevent him running into knee hip problems later on in his life we would go with bracing. The reading I have done online doesn’t favor bracing. Is there any evidence base for bracing? Are there any other options to correct bowing? And what degree of bowing and under what circumstances would you consider it necessary to treat bowing?”
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      • My son has been diagnosed with SEDc. He has a COL2a1 mutation thus a type II collagenopathy. The mutation is a splice site mutation and does not match the usual any of the more common mutations found in the literature. He has grown 6 and a half inches since birth and has met all milestones so far. He is a little less than the first percentile in growth for average statured babies. However he has major respiratory issues and has been in the hospital five times in the last times in the last five months. Is this common with this condition?”
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      • I was wondering if it’s necessary for my daughter who is achondroplast to have at least one MRI? Or does there need to be a concern? She has had no sleep study, no MRI and has not seen and ENT. She has had a runny nose for 6 months now and wakes up and screams multiple times at night. Those are my concerns but my doctors who have no experience, told me that she is perfectly fine.
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      • Please could you give me the medical term for my type of dwarfism. I’m 4 ft 7 however this has reduced to 4 ft 6. I was born with scoliosis curvature lower and upper spine, no arches in either feet. Although when born and until about 7 , my head was out of proportion, this settles into proportion after now although a dwarf. I’m in proportion so I’m luckier than a lot although I grew up being considered less than those of so called normal size. I now get coccydiosis requiring hospital treatment and have osteoarthritis through out the spine and joint including thumbs and angina. All I have been told are normal part of dwarfism. Okay. I grew up with the saying what could not be cured must be endured. What does not kill you makes you stronger and don’t mean adapt. I would just like to know as much as possible about my type of dwarfism. I’m 54 now, I have one daughter and one grandson the same, my youngest is of normal height. There was another grandson who died at age three who had severe congenital problems, esophageal cleft palate etc. and usual spinal challenges and needs fundoplication.
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      • My question is are there any special precautions on the use of fluoroquinolones in children with dwarfism? And since kids with dwarfism already have issues with their bones, do the fluoroquinolones cause even more havoc?
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      • The background for this question: my two year old son has brachytelephalangic chondrodysplasia punctata and has had a tracheostomy since birth due to midface hypoplasia. My understanding is that defect for his syndrome is in the cartilage of the epiphyseal plate. His lungs and immune system are in good shape but he keeps getting hit with the respiratory infections due to the tracheostomy also probably due to a small lung volume. In order to attack the bacterial infections, he’s had numerous rounds of fluoroquinolones.” Maybe this is the fluoroquinolone question. He always seems pretty beat up during the time he’s taking antibiotics, this antibiotics is quite strong, even after the respiratory bug is vanquished but he’s not old enough to really specific what kind of pain he’s in. I don’t want to second guess the prescribing physician but I wondered if there was any dwarfism specific things that needed to be considered
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      • My son is 8 months old and have been diagnosed with achondroplasia. He has always had a faint visible vein lines between his eyes and temple but recently I have noticed it becoming more prominent. At one month old, he has done an MRI and it seems there was a slight fluid level increase in the skull but the neurologist did not seem too concerned with that amount. He’s ENT also told us he has a moderate obstruction not central but at this point he recommend we keep an eye on his breathing progress, using nasal saline and do follow ups every 3 months. So is his prominent appearance of facial veins be an indication of neuro or ENT issues? Or is it normal?
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      • My daughter is 14 months old is still not sitting. I don’t see it coming anytime soon. Should I be worried? She is pulling herself to stand but sitting, she still can’t do.
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      • Do you have any idea when the trials including drug administration of BMN-111 will begin?
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      • And then as a doctor and as an individual with achondroplasia, what is your view on the ethics of developing a drug to help treat the medical condition of achondroplasia? In your opinion do you feel that a drug will be successfully developed in next three to five years and what are the positive benefits or effect?
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      • What are the positive benefits of back surgery on a child with achondroplasia? What are the negative?
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