Guest guest Posted August 7, 2001 Report Share Posted August 7, 2001 Chris Well, what an experience you have had. And I had an even greater one reading your email. Since I had to get the new hard drive put in on Sunday, and lost EVERYTHING my settings are all off. Including the one that took me weeks to get right. The one about wrapping emails. Your email was literally 2 lines in my email and I had to scroll sideways to read. !!! Whew. But not everyone's goes that way. I hate this. Anyway, I just wanted to say I'm thinking of you, my memories of the 'search' and possible 'answer' are not far from my mind. I spent sooooo many years on that road alone, it's a raw memory for me. If you ever want to just vent out your frustration and that this just isn't fair, I'm here and will understand fully!! Oh and let us know, please, what you find out. I have to admit, as I'm sure others will say, I'm interested in what other syndrome you have discovered. We've talked before about how similar Charissa and Adam are, I'm interested to see what you dug up. Mind you when we saw Dr. H. at the conference she confirmed the diagnosis (my main reason for seeing her). But still, if you looked at Adam's baby pictures he didn't have " the look " (and I saw so many little babies at the convention with the look) and who knows if he'll have it when he's Charissa's age. You have a point there. My thoughts are with you. Actually in more ways than one. Since we are in the 3rd day of an extreme heat wave I'm sure you are having lovely weather up in Alaska!! Debby ischool2@... wrote: > Well, since I jumped in on the " I'm Mad " discussion I should probably explain why I have been so silent lately. Some of you know that at our visit with Dr. H. last summer she stated that she believes that Charissa is *not* RSS. To make a long story short, Dr. H. agrees that yes, Charissa does have many RSS traits, but she also has some additional abnormal traits (physical & behaviorial) and Dr. H. doesn't think Charissa has " the RSS look " . (Personally, I think that she lost " the look " as she grew up - her baby pictures show " the look " !) Dr. H. believes that Charissa may be " one of a kind " . > > I was extremely frustrated at having *no* diagnosis after 15 years of thinking we had a diagnosis, questioning whether Dr. H. is right, wondering if there was something else medically we should be looking for, and feeling desperate about wanting to get *something* in writing so we can obtain more services to help Charissa transition to adulthood. I have spent a great amount of time this past year researching various syndromes/ dwarfisms/ etc., trying to find something that is a better fit. I think I may have found something a month ago - something that involves nearly all the RSS traits and also the additional traits Charissa has. I also discovered that there is actually a Genetics clinic here one week every 2 months - a clinic that no doctor has ever mentioned, even though I was constantly badgering for more info! (Count your blessings, you who are so close to so many different specialists!!!) > > I e-mailed the 3 doctors who run the genetics clinics - all Dept. chairs at their teaching hospitals outside this state - and gave them a brief (o.k., not so brief!) medical history of Charissa & asking if they thought she could / should be evaluated. (The usual proceedure to get into this clinic is to be referred by another Doc, and I wasn't sure our endo here would think it was worth a referral - his usual answer to my questions is that she is doing fine, and another evaluation won't change her treatment plan!) Two of the doctors e-mailed me back within a couple of days, & both said they definitely thought Charissa should be seen, and that the 3rd doc. is the one who would be best in dealing with her case (because Charissa is older). I e-mailed copies of this correspondence to the person here who coordinates the clinic & called her a few days later, and she said she had already talked to the doctors & they were going to put Charissa on the schedule for the next clinic, ! > which will be held in late-September. The best part is, the clinic is held in conjunction with the state services, and just being seen at the clinic will open up more transitiong service possibilities. Some services (like assisted living programs) have long waitlists - years, not months or weeks. > > Last Friday we saw our endo. here, for the first time in a year. He ran a bone mineral density scan and another bone age. The BMD is still low (like it was last summer when Dr. H. ran one) but our endo thinks that it is because though Charissa is in puberty, the endocrine system isn't " firing " completely right yet as the BMD is adequate for someone not yet in puberty but low for someone who should be having more estrogen in their system. (Another reason he believes this is because Charissa's periods are extremely irregular.) He will continue to monitor it every year, and we will continue with giving her the extra calcium. If her periods continue to be irregular we may have to do some testing to see if there is some other hormone therapy she may need. The bone age is still delayed by 1 year 9 months - about the same amount of delay she had last summer with Dr. H. Charissa hasn't grown any or gained / lost any weight in the last year. > > I talked with the endo about the genetics clinic & the possible diagnosis that I suspected was a better fit than RSS. He didn't think she has the other syndrome, but he did agree that Charissa should have another genetics eval. as it has been *many* years since her last evaluation (lets see...about 15!) and genetics is a rapidly changing field with more being discovered weekly. Whew, one battle I didn't have to fight! > > So here I am, on hold for a couple more months again. Let me tell you, this has been some wild ride! I'll be sure to send another update when I know more, and I'll continue to lurk & make occasional comments on this list too, since many of the issues we have dealt with are the same, RSS or not! > > (on hold for now, in Alaska) > mom of Charissa (16 yrs., 5 ft 2.5 in., 111 lbs. still, GHD, ADD, ???, immature & late puberty, RSS(?), > and (13 yrs., none of the above > wife of Dave > > .................................... > To get your own free faithmail account, click here to join: > http://www.womenoffaith.com > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 8, 2001 Report Share Posted August 8, 2001 14 & 1/2 has also lost the " RSS " look as he has gotten older, but I was told years ago that the " look " would become less noticeable as he approached puberty, and hardly noticeable at all as an adult. He is still short. but the triangular facial features have rounded out considerably, so the lack of " the look " sounds normal to me for a 16 yr old RSS child. I hope all the Drs don't change their diagnosis when these kids reach adolescence simply on the basis that the baby RSS facial features mature. Good luck with appointments in September. ne -- In RSS-Support@y..., ischool2@f... wrote: > Well, since I jumped in on the " I'm Mad " discussion I should probably explain why I have been so silent lately. Some of you know that at our visit with Dr. H. last summer she stated that she believes that Charissa is *not* RSS. To make a long story short, Dr. H. agrees that yes, Charissa does have many RSS traits, but she also has some additional abnormal traits (physical & behaviorial) and Dr. H. doesn't think Charissa has " the RSS look " . (Personally, I think that she lost " the look " as she grew up - her baby pictures show " the look " !) Dr. H. believes that Charissa may be " one of a kind " . > > I was extremely frustrated at having *no* diagnosis after 15 years of thinking we had a diagnosis, questioning whether Dr. H. is right, wondering if there was something else medically we should be looking for, and feeling desperate about wanting to get *something* in writing so we can obtain more services to help Charissa transition to adulthood. I have spent a great amount of time this past year researching various syndromes/ dwarfisms/ etc., trying to find something that is a better fit. I think I may have found something a month ago - something that involves nearly all the RSS traits and also the additional traits Charissa has. I also discovered that there is actually a Genetics clinic here one week every 2 months - a clinic that no doctor has ever mentioned, even though I was constantly badgering for more info! (Count your blessings, you who are so close to so many different specialists!!!) > > I e-mailed the 3 doctors who run the genetics clinics - all Dept. chairs at their teaching hospitals outside this state - and gave them a brief (o.k., not so brief!) medical history of Charissa & asking if they thought she could / should be evaluated. (The usual proceedure to get into this clinic is to be referred by another Doc, and I wasn't sure our endo here would think it was worth a referral - his usual answer to my questions is that she is doing fine, and another evaluation won't change her treatment plan!) Two of the doctors e- mailed me back within a couple of days, & both said they definitely thought Charissa should be seen, and that the 3rd doc. is the one who would be best in dealing with her case (because Charissa is older). I e-mailed copies of this correspondence to the person here who coordinates the clinic & called her a few days later, and she said she had already talked to the doctors & they were going to put Charissa on the schedule for the next clinic, which will be held in late-September. The best part is, the clinic is held in conjunction with the state services, and just being seen at the clinic will open up more transitiong service possibilities. Some services (like assisted living programs) have long waitlists - years, not months or weeks. > > Last Friday we saw our endo. here, for the first time in a year. He ran a bone mineral density scan and another bone age. The BMD is still low (like it was last summer when Dr. H. ran one) but our endo thinks that it is because though Charissa is in puberty, the endocrine system isn't " firing " completely right yet as the BMD is adequate for someone not yet in puberty but low for someone who should be having more estrogen in their system. (Another reason he believes this is because Charissa's periods are extremely irregular.) He will continue to monitor it every year, and we will continue with giving her the extra calcium. If her periods continue to be irregular we may have to do some testing to see if there is some other hormone therapy she may need. The bone age is still delayed by 1 year 9 months - about the same amount of delay she had last summer with Dr. H. Charissa hasn't grown any or gained / lost any weight in the last year. > > I talked with the endo about the genetics clinic & the possible diagnosis that I suspected was a better fit than RSS. He didn't think she has the other syndrome, but he did agree that Charissa should have another genetics eval. as it has been *many* years since her last evaluation (lets see...about 15!) and genetics is a rapidly changing field with more being discovered weekly. Whew, one battle I didn't have to fight! > > So here I am, on hold for a couple more months again. Let me tell you, this has been some wild ride! I'll be sure to send another update when I know more, and I'll continue to lurk & make occasional comments on this list too, since many of the issues we have dealt with are the same, RSS or not! > > (on hold for now, in Alaska) > mom of Charissa (16 yrs., 5 ft 2.5 in., 111 lbs. still, GHD, ADD, ???, immature & late puberty, RSS(?), > and (13 yrs., none of the above > wife of Dave > > > .................................... > To get your own free faithmail account, click here to join: > http://www.womenoffaith.com Quote Link to comment Share on other sites More sharing options...
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