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talking about it

wamom21 Message
30 Mar 2009, 01:50 AM

well i guess there is only 3 of us on here but i have 3 kids with this disease and would like to talk to others.
mharvey Message
31 Mar 2009, 02:44 PM

Hi,My name is Mary and my brother and i both have AHO. We have had it since birth. I am 26 and he is 28 years old. If you would like to e-mail me. my e-mail is
lizjohn Message
1 Apr 2009, 11:33 AM

Well, Sounds like you all are amenable to talking and I'd love to hear more about your experiences. Sadie, my 21 month old daughter, was diagnosed with Albrights last week and doctors are loathe to tell us much beyond give her calcium and vitamin D. She's got PHP 1a. Mary, if you have the time, I'd love to know how are you and your brother's lives going with AHO? Are there things you might be able to share with a parent of a child with AHO? THings to look out for, question, support, etc? Is there a doctor you've seen that you can really recommend? Wamom, what's your experience like with your kids? Are there things I should do right now as a parent, at the outset of the diagnosis? Tests people should run, questions we should ask, specialists you think we should see?
wamom21 Message
1 Apr 2009, 03:31 PM

well for starters did ur daughter have her thyroid tested if not get it done cause that alone is life threatening we live in washington and well no affence they are handycaped here but since i've been on the computer looking for my self there has been alot of info. the things i have learned to do is get the thyroid tested get calcium,blood phosphate,blood calcium,and have there hands and feet xrayed and have a bone age test done those are just for starters i know this is alot but it will help to get the ball rolling my email if ya want it is and get into an actuall pediatrician that can help with the endocrin part of all this. thats the mager aspect of it all is the thyroid.
thepaul Message
25 Aug 2009, 08:57 AM

Hi, Is there still someone present here ? I see that the messages are all 4 months old. A little comment on the thyroid testing, test not only on TSH, what's mostly done, but also on the FT3/4 thyroid hormone itself. Albright's affects the use of hormone's, and often the tsh is normal or even high, but because it's not so effective the FT3/4 is low. I like to hear more from you people, here or private on I made a website about Pseudohypoparathyroidism/Albright's hereditary osteodystrophy but it's mostly Dutch. But there is also info in English and pictures, and foto's of us. Paul and Therese, Danny* and Noah
thepaul Message
25 Aug 2009, 08:59 AM

And now i forgot the url of the site: you're welcome to look Paul and Therese, Danny* and Noah
nknikole Message
22 Nov 2009, 11:25 PM

Hi, I am new to this group. My husband and I have two children that have been diagnosed with AHO. Our daughter Clara Kate is almost 5 (Dec. 30) and our son was 2 1/2. We lost him in July. Both our daughter and son have/had hypothyroidism and growth hormone deficiency. They both are/were taking growth hormone shots. Our son had low calcium and as a result seizures. He also had low cortisol. This condition went undiagnosed for some time and as a result of this condition, he went into a systemic inflammatory response several times. He was misdiagnosed with several different conditions because the PICU doctors did not adequately understand the entire spectrum of albright's. We finally got to Baltimore to see Dr. Germain-Lee (we live in Mississippi). She is the only doctor we could find who was doing any research in this area. Ironically, the day of our appointment was the day our son died. He died unexpectedly of a cardiac arrthymia. Our daughter is doing well. She is still slightly delayed (she has closed the gap enormously). She does have speech apraxia but otherwise is just about where she needs to be. She is refusing to potty train, however. If anyone out there has any helpful information or has any questions for me my email is Thanks, Nikole Roberts
thepaul Message
23 Nov 2009, 09:22 AM

Hi Nikole, At first I want to speak out how sorry I am about your son's death. What a loss !!! A lot of people say they believe to know how it feels, but sadly we know it fot real. Secondary, i'm glad to hear from you and being a listning ear, and maybe we can share some of the emotions as well as experience. I'm Paul (47), married to Thérèse (45), and we have two sons, Danny* who died 5 weeks old in 2002 and Noah (may 2004) If I make mistakes in my English, it's because I'm from Europe, The Netherlands, often called Holland, although some people only know the capitol Amsterdam. We live in the most south-east part, near the borders to Belgium (capitol Brussels) and Germany. That's why my website is in Dutch, although you can translate it for example with Google. Yes, we lost our son Danny* 5 weeks old because of mistakes and not-responding by the hospital. His problems were the result of PHP/AHO, a bad start from a pre-eclamspia, a non working thyroid, and oxigen deficency in that bad start. After 16 days at a ventilator, he came of and two days later we were breatfeeding ( my wife ofcours). But that didn't go very well, with Therese, because of stress, and afterwords we know, she has also hormone-resistence because of Albright's. With more bottle milk, Danny* developed new problems, with spitting and diarea. The hospital (weekend) gave us the idea, they did everything, but he got more sik. Monday morning we found him, choking in his vomit, and nobody had noticed. The alarm was rong ajusted, and the nurses had just have to look through a window, but they were busy drinking coffee. It was 9.30, they started working at him, but 14.45 afternoon it was over. They pulled everything, and he died in our arms............ With our second son Noah (5 1/2), we searched for 3 years before we had the right diagnose. At 1 1/2 years doctors were at a diagnose Albright's, but the gen-test said no, but with 3 years we found out, the test was not good enough, Noah has Albright's. Because of the negative test and few knowledge nobody looked and treated Noah for his low calcium and high phosfates. The most important in aho is treatment with vitamine D (alfacalcidol), and alongside extra calcium, to make sure that the blood calcium is high enough and the phospates go down. Secondary, most children need thyroid hormone, test not only in tsh (thyroid stimulating hormone) but also the thyroid hormone itself, and even that is not everything, because aho is known for bad use of the hormones even if thy are present in the right amount. I know the name of dr. Germaine Lee, and her research of PHP/AHO. She also on my website at page 16. Because even the hospital was not able to supply us with good information, I started my own research, for good info, by serious medical website's and research, translated it and wrote my own website about it, to fill the gap of knowledge, present here. And in a way that normale, not medical, people can use it to. Furthermore it's also a memory site for Danny* with his story and some foto's. I just got a newe url/name for my website, with seperat hosting, but it's not yet active. So, for the moment you can find our site at this adres: "" Noah is doing resonable well, but he has a long way to go, his speech is a big problem to. His development age is under 2 years old, by an age of 5 1/2. We started potty-training some weeks ago together with his day-center, but that's also a long story. He wears diapers alday (and night). Hope hearing from you again, with a big hug for the 3 of you, Paul and Thérèse Danny* and Noah
lizjohn Message
24 Nov 2009, 04:31 AM

Hello, everyone. Reading these stories, I'm reminded of how precious and fragile our children all are. We just came face to face with some of that last week with an almost week long stint in the hospital because our daughter Sadie was OVER medicated, i.e., taking too much calcium carbonate without frequent enough monitoring. All this resulted in hypercalcemia and while we avoided the worst of things, definitely experienced an unnecessary hospitalization, in my opinion. We're home and things seem to be normalizing, slowly, but I did want to make sure I shared this with people. I'm going to post it to the yahoo group as well because it was not something there was much written about. Basically the only clue to us as parents was her incredible thirst which was masking dehydration. Sadie's veins were too small to sustain an IV for the growth hormone stim test with Dr. Germaine-Lee, so we won't know about that deficiency (or lack thereof) 'til her veins get bigger. At this point she's 2.5, seems to be growing slowly, but surely, and is receiving physical and occupational therapies. For people whose children have diagnosed speech delays, how early did you try to diagnose those? We've also been wondering about toilet training. I've wondered what people know about fevers in kids with PHP 1a. And I'm also curious about whether anyone (or their child) has experienced sensitivity to sound or sensory integration issues. I'm happy to exchange stories, experiences, advice, questions, findings. Talk soon, Liz
nknikole Message
24 Nov 2009, 05:39 AM

Liz, We too have experienced a lot of the unnecessary--primarily my son's death and other issues as well. It is great that you were on top of the situation. We diagnosed Clara Kate with a speech issue early--before she was a year old. It was evident that she was not progressing with her speech as she should be. We got her into therapy at six weeks old--PT, OT. speech. She started early intervention after first being diagnosed with congenital hypothyroidism. She has continued on with the speech and OT therapy. However, we are now seeing a speech therapist who specializes in speech apraxia. She does have a sensory integration disorder but with therapy has really worked a lot of her issues out. I see that you also see Dr. Germain-Lee. That is great! Our growth hormones were very low. We are having major issues with toilet training. I have a school psychologist helping me with the process. If we can't get it taken care of over the Christmas holiday, then we are going to try ABA therapy. Nikole
Star7 Message
24 Nov 2009, 08:44 PM

Hi Everyone! I have a 3 year old boy who was recently diagnosed with Albright's Hereditary Osteodystrophy/PHP 1A and was pleased to find this forum where other parents of children with this disease can communicate. I can totally relate to what I am reading here as my little boy sounds very similar to your children. When my son was born, my husband and I immediately felt that something was not right with his health. Being new parents, we were told over and over not to worry. However, one day we finally brought him in to the ER only to discover he had multiple heart defects, one which required open heart surgery the very next day. We spent about 3 weeks at The Hospital for Sick Children (Toronto, Ontario, Canada) and were released. When we went home, he started having serious feeding difficulties and actually ended up requiring resucitation after one breastfeeding experience. He had literally 'forgotten' how to suck, swallow and breathe. Back to Sick Kids for a month of tests to determine why he couldn't eat. He was diagnosed with GERD (Reflux disorder) and a floppy airway (Tracheobronchomalacia) as well as requiring Occupational Therapy to relearn how to drink milk. From that point on (he was now 3 months old) it became apparent that he was not reaching developmental milestones. His feeding OT noticed this and started implementing therapy for his gross motor skills. I mentioned to his pediatrician also that he was not babbling like other babies and seemed to not respond consistently to sound. Hearing tests revealed he had conductive hearing loss due to his constant ear infections. He had tubes inserted and regained hearing. In addition to this, by 1 year of age he was diagnosed with severe asthma, resulting in chronic respiratory infections and frequent hospitalizations. He has been consistently behind with development. He crawled at 1 year, stood up alone just over a year and walked at 18 months. Speech has been severely delayed. He has been in therapy since he was 2 years old and is only now starting to SOMETIMES combine two very simple words together to communicate. The SLP's also believe has a motor issue, probably apraxia. He receives Occupational Therapy, Speech Therapy and Physiotherapy. At 2 years of age, we started a quest to determine why he was so delayed and learned he had hypothyroidism. We were referred at 2 and 1/2 to Sick Kids Genetics for a million genetic tests as well as Endocrinology. Finally, about 2 months ago we got a diagnosis for my son both from genetic tests and blood tests biochemistry of AHO/PHP 1A. He is now taking Calcitriol and is seen regularly by an Endocrionologis/Bone Health Specialist at Sick Kids. He is a wonderful boy and we are trying to learn as much as we can in order to be informed parents. We too, have had experience with him having unexplained fevers which after testing by Immunologists resulted in no explanation for why they are happening. He gets sick very often so had to be placed on low dose antibiotics. Thanks for reading/listening. It feels good to share!
lizjohn Message
25 Nov 2009, 03:10 PM

WOW! It sounds like you and everyone here have been through so much. I'm just glad we have a forum where this information can come together and we can learn from/help each other with the experiences we do share. It pains me that all this information is not centralized and distributed somehow. I will be thinking about how to do that for a long while. It's something that bothers me every time I get on the yahoo group and see how many people have been searching for info for so long and had no way to find it. And so much of it we share in common! I have another question regarding urination, infections, and ureter reflux. Has your boy (or anyone's child) been diagnosed with vesicoureteral reflux disorder? I'm curious to know because Sadie had issues with frequent UTIs early and was diagnosed with grade 4 bilateral after a VCUG. She's been on low-dose antibiotics ever since (which have helped greatly) and we're trying to figure out if she should have the surgery to repair the under developed ureters or if those will grow on a delayed timetable like everything else seems to be. Anyone else experienced this? grown out of this, just more slowly? I WISH we could figure out how to test her growth hormone. It kills me that not knowing could be slowing things given the tiny window available to her for growth before the bones' epiphyseal plates seal. Looking forward to hearing/talking more soon and happy holidays for people celebrating Thanksgiving! Liz (Sadie's mom)
nichoandkenna Message
26 Nov 2009, 02:57 PM

Hi, I'm new to this site and Happy Thanksgiving to everyone! I have two children MaKenna (8) and Nicholas (7). Both have been diagnosed with AHO, and we are waiting for blood work to determine which type. I was very excited to find this site, because right now any info is good info. We are seeing multiple doctors at the University of Michigan. It has taken us 5 years to finally get a real diagnosis. I say "real" because both of my children have bilateral hearing aides and with the hypothyroidism found a few years back everyone wanted to call it quits, but I knew these were only symptoms (along with so many others) of something much bigger. Has anyone else experienced hearing issues? Both of the kids had three sets of ear tubes. I am looking into finding out more info on Dr. Germaine Lee, thank you for posting her name. I asked during our last genetic appointment at U of M and they said there was no one doing any research. I know they can't stay on top of everything, but it shouldn't be that hard for them to know she is doing research in this area. I will continue to monitor this website and I will add my personal email, which is Thank you for the posts! Katie Stull
nknikole Message
26 Nov 2009, 03:44 PM

Katie, You should definitely contact Dr. Germain-Lee. She is doing research and can definitely be very helpful. Our son had hearing loss. He wore a cochlear implant. We were never sure if his hearing loss was due to AHO or to the drugs that he had been on shortly after birth. Do your children have growth hormone deficiency, hypothyroidism, or any other hormone issues? Would love to talk more. Nikole Roberts
Star7 Message
26 Nov 2009, 05:04 PM

Hi! My son had hearing loss associated with chronic ear infections. He has had 2 sets of tubes. His hearing is fine with tubes in, in fact he is overly sensitive to loud noises. He startles and gets anxious very easily.
nknikole Message
26 Nov 2009, 06:13 PM

Yes, chronic ear infections have been an issue with both of my children. My son had two sets of tubes before he died--2 1/2 years old. My daughter has had three sets of tubes. She has to go to the ENT every three months to have her ears checked. He said that her ear canals are so small that she is prone to infection. I believe that this is another component to AHO. To our knowledge her hearing is fine. She has been tested and everything was fine. She does not have auditory sensory issues, which we are thankful for. Something else I wanted to mention to everyone. Our daughter has had three sleep studies and has tested positive every time for chronic retention of CO2. Her doctor sent her initially because of the excessive tissue in her throat region and fear that it may be causing apnea. We recently had her tonsils checked and they were large so we had them taken out along with her adnoids (2nd time). Her snoring has improved. She still has to have one more sleep study before it is decided whether or not to put her on CPAP.
AHOmom1 Message
31 Jan 2010, 09:09 PM

Hi, I'm VERY new to AHO. We just learned about AHO on Friday, 1/29/10 from an initial consultation in the Genetics & Metabolic clinic at Children's Hospital in Washington, DC. After the initial consultation, the genetics doctor said there is enough physical evidence to support a type 1 diagnosis. But, she wants to wait until the final diagnosis in 4 to 5 months to put it in writing. All of my daughter's behavior and physical challenges match the characteristics of AHO, type 1. I'm confident in what the doctor is saying will be true. I'm trying to educate myself as much as I can so I can ask all the questions I can when we return for the final diagnosis. A family member has passed on Dr. Germain-Lee. I anticipate talking to her soon to see what she can do for us. I hope this site will provide the much needed resources to raise an AHO child. Who ever started it, "THANK YOU!"
rare2 Message
1 Feb 2010, 12:51 PM

Hello I am at this moment 25 yrs old.. if ind myself very lucky till now to t he way i am .. when i was 3 yrs old & 5 i had 2 major operations.. for my forehead.. it was overmy face type of thing.. but i see everyone else kids who had breathing problemes etc.. i never had that.. just some ear infections but nothing more seriously.. soo they never knew i had it.. but they found out at age of 15 that i have hypothyrodisme then at age of 23 yrs old that i have AHO.. but i knew something wasnt right as my fingers & toes are shorter than normal.. also for my face.. anywyas thanksd for this chat .. thing .. later dayz
Kayleesmommy2009 Message
28 Apr 2010, 05:48 PM

Hey, my name is elizabeth and i am new to this. My daughter will be 4 yrs old and has Albright Osteodystrophy Hereditary Syndrome. I don't know much about this. i was wondering if i could plz get some input on it. She has had tubes and she has the bony growths caused from it she is on 2 different meds for this. i still dont know much about it help!!!!!!!!!!!!!!! plz email me on here or at She used to take these weird passout spell things where she actually quit breathing.