LP Doc Talk: Dr. William Mackenzie | Growing Stronger
Growing Stronger
LP Doc Talk: Dr. William Mackenzie

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  • Dr. William Mackenzie MD, Orthopedic Surgeon
    • Questions & Answers on 1/21/2013
      • So my daughter is 8 months old and has achondroplasia, is there any testing she should have done? My doctors don’t know much. She had an x-ray 1 month and a test where they look to see if there was fluid in her head when she was like 2.
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      • My 6 month old child was diagnosed with type II collagen chondrodysplasia exact type unknown. How important is it for us to get an exact diagnosis? We have had a very tough time trying to find anyone in the medical profession who has experience with his condition. I feel he should see a skeletal dysplasia expert? He's doing well but have breathing issues, cleft palate and feeding issues. When it comes to anything like feeding, physio, OT, sitting, anesthetic no one knows and I have to refer to the internet. Should we take him to UK?
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      • My daughter with achondroplasia is 11. It is possible to enroll her in a growth study/ drug trial at this point?
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      • With the 2013 World Dwarf Games coming to the US August 3-10, what are the benefits of sports for dwarfism athletes in terms of flexibility, stamina, and core strength versus the potential risks of skeletal and neurological damage? For reference, 75 % - 80% of participating athletes have achondroplasia as a primary diagnosis.
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      • What hospital should do my son's spinal fusion? My 21 month old son has brachytelephalangic chondrodysplasia punctata with atlanto-dental instability at C1/C2-no signs of compression thus far. He is also tracheostomy dependent due to severe mid-face hypoplasia (Binder phenotype) He gets all his medical care at Stanford, and overall we're happy with the total package of care he gets there. We're in Central California-Stanford is a 3.5 hour drive north for us Cedars-Sinai or CHLA would be a 4 hour drive south. He sees orthopedics and neurosurgery for the c-spine issues, and ENT for the trach issues. We expect him to outgrow the trach at some point in the next few years but he's stable and developing normally so we're not stressed about him having a few extra holes for a little while. He is pending a skull to C7 spinal fusion to deal with the cervical spine instability. My understanding is that they'll go with the surgery as soon as he's big enough for the HALO. Orthopedics would like to wait until the trach is gone but if his spine gets worse, they'll do the surgery with the trach in place. Is Stanford the best place to do the fusion? If not, why not? If not, then where should we take him? Is the spinal fusion something any big pediatric hospital can do or is it the kind of thing that we should go to one particular hospital for?
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      • What are your thoughts on using excersaucer? My daughter will be one next month and I see some people use them with their children. My daughter has achondroplasia. Also how do I know if the kyphosis is bad? I read that 10 % will require surgery or need a back brace. None of my doctors know. What should I watch for?
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      • I am a student and sometimes I feel weaker after writing some essay or anything where as all of my normal friend write as long as they can but I just get tired and my fingers starts to ache.Is that because of achondroplasia?
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      • Not all doctors who perform limb lengthening will do so on those with pseudoachondroplasia. What are your thoughts on why it is more risky with pseudos and do you have any experience with this?
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      • I am 40 years old and have achondroplasia. I suffer from extreme back pain on a daily basis. An MRI a couple of years ago showed Spinal Stenosis on the lower part of my back. My family doctor's kept me kinf of okay on prescribed pain killers for the last few years but seems that they aren't working as strong or the pain has overall spread throughout my whole body not just my back. There are days the pain is really bad and it's hard to keep going especially when you have kids, a family, a job, etc. to look after. As a child, for my first 15 years of life I wore a back brace and leg braces to try and correct the bowing of the legs and scoliosis in my back. I do remember hearing from doctors when I was a kid that much of those braces were to help avoid a lot of pain in my older years. This was back in the States. There aren't too may doctors out there very familiar with achondroplasia. Any idea on what kind of specialist is best for me to see for this? Any recommendations in or around HAmilton, Ontario? If not specialists, any personal ideas that have worked for you with this type of pain?
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      • I have a daughter who was diagnosed with achondroplasia. Besides x-rayon her hand and a CAT scan at 3 weeks old, she has had no other test of any kind. I spoke to a lot of parents of lp and most have had a sleep study test and MRI. Should my daughter undergo as well? Also should she see an ear/nose and throat specialist? She has had a runny nose for 6 months now and 3 ear infections. I'm also worried about her back, her lower spine sticks out quite far.
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      • My daughter has a COL2A1 exon 19 mutation. My worry is Ava's neck is unstable. She is 19 months old. I was wondering what is the typical age they have their neck fused. I'm sure it's a case by case basis but it just seems to me that it is so dangerous to not be done sooner rather than later. I keep getting told the same thing over and over that "she is too small, come back in 6 months." She currently weighs 13 lbs 6oz. There has been no MRI done on her neck, only x-rays. From my understanding ,sometimes the bones are not ossified completely by then. There is also no sign of a pubic bone and she only has eleven ribs. I feel that she needs to have an MRI done on her neck so that we can have a better idea of what is going on. We recently got a neck brace made for her. Am I being too impatient about getting her neck fixed?
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      • I recently got married and me and my husband both have dwarfism. I have achondroplasia and my husband osteogenesis imperfecta. I was wondering what are the odds for children would be; average, achon and osteogenesis imperfecta.
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      • Are there any differences , subtle or significant, in the medical prognoses of hypochondroplastic people with the common mutation (FGFR3/N540K) versus those without know mutation?
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      • About how many inches do you anticipate this drug will do to a height of a person with achondroplasia? Limb lengthening can yield up to 12-16 inches. If BMN-111 does not increase length as anticipate, could a BMN-111 recipient still be a candidate for extended limb lengthening? Is it possible that this drug will decrease the occurrence of other complications frequently associated with achondroplasia (i.e. spinal cord compression, kyphosis, bowing of legs, etc)?
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      • My daughter Charlie, age seven, has already had her head expanded due to too much pressure. She has got a shunt and is working fine. We have just been back in hospital again for headaches and they say she needs another head expansion. Im just wondering how common this is?
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      • My child with achon, one year old, is getting more visible veins on eyelids, undereye and forehead. Is it a sign of something? He still doesn’t have full head control. Is that an indication of something?
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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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