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Collagen Type 2 Deficiency
Hello,
I’m just looking to see if anyone has a collagen type 2 deficiency. My 5 year old son does which causes metaphyseal chondrodysplasia (rigged abnormal growth plates). So he’s very small for his age. He is finally into size 3T pants. I haven’t found anyone else who has this deficiency. He is not technically a “little person” but many little persons do have this disorder. On top of this he also has a growth hormone deficiency that we found out through genetic testing he inherited from me. So we have no idea how tall he will be or what is to be expected for side effects. His spine is not involved which is awesome and he has it in his wrists, 1 hip and ankles. We see a geneticist and an endocrinologist now every 18 months. Started out every 6 to 12 months. If anyone has any insight I would greatly appreciate it. Thank you!
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Hello @jlovejoy23,
My sincere apologies for the delay in response; I was digging through Connect's discussions, but couldn't find any members who may have discussed this condition. I'm tagging @JustinMcClanahan, Connect's moderator for the Bones, Joints, Muscles group to see if he may have more insight for you.
@jlovejoy23, could you share a few more details about your son? Do you know what sup-type of metaphyseal chondrodysplasia he has?
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1 ReactionHi @kanaazpereira no worries on the delay. He specifically has the COL2A1 gene deficiency. He also has a "Variant of unknown significance identified in growth hormone receptor gene". Which apparently I also have the same growth hormone deficiency gene, so he was hit with the double whammy. His body is fairly proportionate to his size, although he's a little bow legged. He's just really little, most people guess him at 2-3 years old rather than 5.5. He gets his eye checked every year and they have all come back normal and doesn't have any other issues related to it. I believe he has the abnormal growth plates in his wrist, hip, and I believe it was 1 ankle. His spine is good so far thankfully! I guess I haven't met anyone else who either has this disease or child does so I was hoping to connect with someone who does. Thank you!
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2 ReactionsHi @jlovejoy23,
I'm tagging Mentor @johnbishop, and Connect member @rrbergan who posted about growth hormone deficiency a while ago; I'm hoping they will return and join this discussion with some insight that may help.
Hi @jlovejoy23, I wish I could offer information from personal experience but my discussions about collagen have been mostly about taking supplements to help with my osteopenia, polymyalgia rheumatica and small fiber peripheral neuropathy. I started taking Gelatin Collagen Hydrolysate daily to help mostly with the osteopenia for bones and cartilage. My wife started taking it with me because she saw that it helps with nails and hair and she notice it did make her nails a lot stronger.
I did some searches using Google Scholar (https://scholar.google.com/) which is a great tool for finding research articles, treatments and information on rare conditions. I found the following articles which may be helpful until someone with personal experience is able to join the discussion:
Google Scholar search results for the phrase "COL2A1 gene deficiency":
-- https://scholar.google.com/scholar?as_ylo=2018&q=COL2A1+gene+deficiency&hl=en&as_sdt=0,24
From the above search results - ZOLEDRONIC ACID VERSUS ALENDRONATE IN THE TREATMENT OF CHILDREN WITH OSTEOGENESIS IMPERFECTA: A 2-YEAR CLINICAL STUDY:
-- http://journals.aace.com/doi/abs/10.4158/EP171910.OR
News Medical & Life Sciences website: Collagen Types and Linked Disorders
-- https://www.news-medical.net/health/Collagen-Types-and-Linked-Disorders.aspx
Thank you for being a strong advocate for your son. Hoping you find some answers soon.
John
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