Paul's wife, congratulations!  I have actually always been told the opposite, that girls are more likely to be affected by AHO than boys, but if they are, they tend to be less affected. Also, you are correct that if the father is the carrier they are not hormone resistant. I inherited AHO from my father and i never had most of the issues my girls have, so your son should be good to go :)

The gene that caused our version of AHO (ours, as of 10 years ago, had never been seen in any other families) is on the GNAS1 gene. I think that gene can have many different mutations that all can cause AHO but I'm not sure. I would suggest going to a pediatric geneticist once your son is born and don't worry about in utero testing. Most AHO kids don't have symptoms or problems until they are a few months old at least. Good luck and keep us updated on your baby boy :)

Hey all!  This is an update a long time coming, but Paul and I are expecting!  We are having a little boy due in December.  We are beyond thrilled.  We have done some genetic testing, and so far, everything is progressing normally.  He is measuring perfectly for his gestational age, bones the right length, head the right size, everything.  "Mamaleeisme", I have heard that boys are more likely to be affected by AHO than girls, but when girls do get it they are more profoundly affected.  Also, if the father is the carrier then the child will likely not be hormone resistant. 

But beyond all this, our geneticist also said that there are some things that can't be diagnosed in utero.  I am interested to hear if "Sshark7" is still on this thread, and if they could tell me more about the "4 gene deletion" that diagnosed their daughter's AHO.  I would love to have some more specific things to look for.  However, we know from Paul (and some of you!) that adults with AHO manage well and have productive, happy lives.  We would not miss out on raising our son for anything--we just want to be aware of any struggles he has in order to prepare for them.

If we hear anything soon (after an appointment in the next week) I will try to remember to update.

Thanks!

Hello :) I don't know if anyone will read this, but I thought I would tell our story and hope maybe it will help someone or maybe someone can give us advice. We didn't know anything about AHO before 2005. My oldest daughter, who is 13 now, was born at 6 lbs 3 oz and seemed perfectly healthy. At 3 months old, she was hospitalized for 9 days with breathing problems and was diagnosed with tracheamalasia, which is where the trachea collapses (in her case it would collapse when she was sick). At 11 months, we had to change pediatricians and her new doctor took one look at her ( she weighed around 30 lbs) and told me there was something wrong with my baby. It took another 1 1/2 years, but we eventually made our way to Denver Childrens Hospital and their genetics clinic and we were diagnosed with AHO 1a. The defect we have has never been seen in another family. She has high calcium, high potassium, short stature (she is 4'10" and the dr's always dismissed me when I would tell them I wanted her on growth hormone. By the time they realized I was correct and she needed them, it was too late because her sleep apnea was too bad), mental issues (anxiety, ADHD and learning disabilities), extreme weight problems and encopresis. I also have a 3 year old daughter who has been diagnosed. She has extreme weight issues, breathing issues, sleep apnea, calcium calcifications, high calcium, high potassium and mental issues. She will be starting growth hormone next year. Interestingly enough, I have two boys who do not show any sign of having AHO. I have AHO 1b. I do not have the calcium or potassium issues, I have weight issues but they are not extreme and I have very short toes, but I am not extremely short. I never knew I had any issues until the diagnosis of my first daughter. For those of you who are gluten free, how did this help you in regards to AHO? None of our doctors have mentioned going gluten free, so I was interested to see what it did for you. Also, if anyone has any questions, please feel free to ask. I have been going through this with my girls for a while now and I would love to be able to help out any parent who is new to this.

My daughters were prescribed metformin last year due to being morbidly obese and it has been amazing. My youngest was 107 at the age of 4. She has been on metformin for about a year and is 63 lbs now. My oldest daughter was 235 when she started metformin and is now 202. I would ask your Dr about trying that

I suffer from PHP type 1A since my birth and I had always difficulties with maintaining the correct weight, but I never reached an overweight of more than 11kg [25lb] above the normal weight. As I have been born with degeneration of my left hip joint, it is very important not to overload this joint. My parents explained me this issue quite early and they provided me with enough sport activity on the fresh air during my childhood. I have a two years older sister, who is healthy and I was treated like a healthy child by my environment, as nobody knew about my disability. Now my weight is 56kg [123lb] by the height of 152cm [5ft]. Please contact me, if you wish to talk with me about this issue. My e-mail address is bsandecka@wp.pl

Hi :) I don't know if you will see this, but my daughters both have issues with weight. My 13 year old is morbidly obese and we have been trying for over two years to get her to lose weight. She has lost 7 lbs in the last 3 weeks because I am making her go to the gym with me and work out. We also had to restrict her diet, even when she would cry and say she was starving. She gets enough to eat, but she had stretched out her stomach over the years, so it was a matter of shrinking her stomach. Now, she doesn't overeat and she isn't stealing food anymore. She is ok with small portions too. She will never be skinny and that is ok. We are really hoping she will get down to about 130 ( she is 4'10" and 224 lbs right now) I don't know if this helps, but if you would like to talk more, just drop me a line.

Hello, my name is Beata and I'm 36 years old. I suffer from PHP type 1A since my birth. I am new to this forum - I have registered here yesterday. I would like to wish all of the members of this forum best health and prosperity in the new year 2015. I hope to find new friends here. Please write me to bsandecka@wp.pl Best wishes, Beata

My son too has aho and hypothyroid and numerous calcifications throughout his body. It is just frustrating that Doctors do not know how to treat the aho symptoms such as the underdeveloped metha carpals. My son is 12 now and i managed to keep his weight low and with speech therapy he is getting better but what to do with his body image? He gets self conscious at this age and notices he does not look or feel like his peers. And there is no education out to inform the schools about this disease.

I would love to know too, as this seems to be all that is available. Of course, there are the medications for the associated difficulties such as the hypothyroidism, growth hormone deficiency etc.

I would like to know if there any medical entity that has a better treatment besides calcitriol and calcium suppl ?.

Hi! My son is 3 almost 4 and has AHO type 1A and we struggle with his weight too. He is always hungry and thirsty, so much so we had him tested for diabetes and diabetes insipidus which both came back negative. I too cannot get him to be very active. One thing that I found has worked is each day I am getting him to walk to the park with me. The park is about 15 minutes away so we walk there, he plays at the park and then we walk back. He does not seem to complain too much about this. Also, we too only offer fruits or healthy things for snacks and he is only allowed one treat a day ( usually a cookie) after dinner. Even doing this he is still chubby looking and is about 4 or 5 pounds heavier than he should be. Do you think growth hormones pay a part in this? I understand that growth hormones has to do with why our kids are short.

Hi guys. I have two kids with AHO type 2. Both of my kids are also overweight, and we are taking them both to Baltimore this summer to see Dr. Germaine-Lee. She is a pediatric endocrinologist at John Hopkins and opened (in 2010) an Albright's clinic across the street. I too am very concerned with the weight issue, and this is one of the reasons we are taking them. The univeristy of Michigan has been very good to us, but I don't think they go outside the box there. We have had good success with giving our kids chewable digestive enzymes with their meals. We found the kids were not absorbing the nutrients from what they were eating, so they were always feeling hungry. We also only give them water and try to keep only healthy foods around. Believe me, if they get hungry enough they will eat healthy foods!!! For my daughter exercise is like the devil - so it's hard to get her to burn off calories. Keep asking questions! I know we have been only recently diagnosed, but if you want to talk more you can email me katiestulldc@yahoo.com

well i guess we are alone in there Ahomom. they had to up kaylees medicine again. I dont know what to do for her. she acts like she is addicted to food and drinks and i cant stop her.

deena, i know u dont know me but can you please email me. my daughter has albrights too and it also 3 years old i would like to talk so of u would l ike to face book me at kayleesmommy2009@hotmail.com

Madison has all of these as well. When she had the flu back in 2005 is when they first found the heart issue of aortic insufficiency but in 2007 they told me it had resolved. the behaviorial issues I think get worse with age but Madisons comprehension has improved two fold. Her expressive language is where she lacks and this is what gives her delays. She gets very frustrated and her school speech therapist is just getting her a communication board device. So we will see how it goes.

I can totally relate to the feeling crazy part. Dr's tried to blame me for my sons weight for son long. It was great to finally find someone to listen to me!

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 kayleesmommy2009@hotmail.com. She used to take these weird passout spell things where she actually quit breathing.

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

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!"

Sent an email to Dr. Germain-Lee about my daughter. I shared what was found in the initial genetics consultation at Children's Hospital. Kristin, a research assistant for Dr. Germain-Lee called within 48 hr. after the receipt of my email to tell me that Dr. Germain-Lee is putting us on her patient list. All we have to do know is call and schedule an appointment after we have completed all of the testing ordered by Children's. I like her already!!!!!

You should go see a geneticist and an endocrinologist with this question. The geneticist will be able to confirm where the mutation is on your genes that has lead to AHO and will be able to tell you the type of PHP you have. They can also tell you how you got it, if they can test your parents' blood, i.e., if it was a spontaneous mutation or passed. This will help your treatment, so definitely go do it.

There is AHO/PHP 1A and AHO/PHP 1B. If you have type 1B you will have the physical features of AHO but not the hormonal/endocrine issues. If you have 1A you will have issues with your hormones, calcium levels etc. You should be followed by an endocrinologist who specializes in the effects of endocrine issues on bone health as this disease influences both.

Any tips on preparing a child for all of the evaluations and tests to confirm an AHO diagnosis? I can handle the eye and dental appointments. It's the blood draws, x-ray, and endocrinology appointment that are of concern.

Hello, my name is Christa Marcks-Ehl. You can find me on Facebook as well....when requesting me as a friend write a little note just saying in relation to Rareshare so I know to accept you. Christa Hannis Marcks-Ehl is my link name. Please feel free to ask me whatever I have not been offended by ANYTHING in about 8 years..lol.

Thank you :)

I have neuropshycological evaluation reports from 2 private providers who say she needs educational resources because she is delayed in pragmatic language processing and long term social relationships. Children's Hospital is recommending OT for writing support. I have the school's own eligibility committee ffrom 6 weeks ago recommending increased support services in the classroom. That didn't seem to have an impact on today's committee. All they heard was that there was a medical issue they can't address that is impacting her academic performance. That seems to give them the OK to cut off services completely. We are still in the early stage of diagnosing the AHO. So, I don't have the support needed for the eligibility commitee yet. But, what you have suggested will help keep me on track as to what I should be providing them as I move throught the appeal process and genetic testing. Thanks for the response!

Has your daughter been involved with services such as speech /language pathology, physiotherapy and occupational therapy? If so, the therapists can be helpful. Is she delayed? Have you had any testing done on her pertaining to developmental delays? All this information would go into getting support. AHO/PHP 1A most certainly is a diagnosis that influences a child's development in language, fine and gross motor, social and cognitive skills. The problem is most people have never heard of it so they dismiss it. You need to provide them with information that describes the symptoms as they pertain to developmental skills.

Went today for an eligibility hearing to reivew my daughter's IEP and need for services. Shared her suspected diagnosis of AHO with the school. They have now deemed her ineligible for IEP services. They believe that a genetic disease will not impact her academic ability in any way. They don't think a 4th & 5th metacarpal deformity in her dominant right hand will effect her ability to write and complete graded class assignments. It did 6 weeks ago when they called ME in to get MY approval for increased resources for writing in math, social studies, and science. After the shock wears off, I will be appealing their decsion. Any one have any suggestions for what services I should request or how to approach this situation?