3 ms·
I have a child with either the same disorder or a closely related one. The doctors I've talked with (Kaplan, mentioned in this article, and Levine at CHOP just
by jwineinger 3y ago
I have a child with either the same disorder or a closely related one. The doctors I've talked with (Kaplan, mentioned in this article, and Levine at CHOP just last week -- both wonderfully kind and knowledgeable men) seem to disagree on whether POH is a distinct condition or just a more severe case of the same underlying GNAS problem. For us it has been called pseudohypoparathyroidism (PHP, with a few subtypes), and pseudopseudohypoparathyroidism (PPHP). She has very small bone formations in her skin (osteoma cutis) since birth, with relatively few new ones over the years. She's also had tiny bone fragments form in her gums and push their way out, and a few small formations in tendon sheaths in a finger and wrist.
There are other things to deal with as well. None are easy to see and not be able to do a thing about, especially when they cause pain. Both doctors mentioned above told us that surgery should be a last resort, because unless every affected cell is removed from the area, it can grow back. Kaplan has seen cases where post-surgery regrowth is far worse.
In a strange way, it is heartening to see that there are other research teams investigating this, even if it is because of such a terrible case with these sisters. My heart goes out to them and their family. Thankfully, my daughter's case is characterized as mild even though it doesn't feel mild when you live with it.
- heyoni 3y agoI had a long rant written up the first time I saw this article and deleted it. Came back to it and saw this and it made me want to reply. Not to say anything groundbreaking either except that I'm going through something similar now with my daughter. She has a rare genetic disorder and funny enough, we're also heading to CHOP soon (we're in touch with Elaine Zackai) to get some guidance. I didn't realize everyone with these types of syndromes were being funneled to the same place. Hope you guys are doing alright. We might even bump into each other.
- jwineinger 3y agoLevine told us that he and 3-4 other docs in the US get most of the referrals for 2nd opinions for PHP/PPHP. Our local endocrinologist had seen 2 or 3 cases in her career, and he said he sees that many per week. I hope you get some good news/answers there. CHOP was just another level compared to what we're used to in a city that has pretty good healthcare. I'm happy to connect if you're interested.
- heyoni 3y agoI'm very interested in hearing about how the process went for you. I added my email address to my HN profile, let me know when you get it so I can proceed to remove it. I'm not sure that good news will come out of my meeting with CHOP doctors but I'm going anyway.