I was wondering what the outlook for kids with this disorder are. How are the teen years? What is the outlook like in adulthood?

You never got a reply to this, and I know it's 3 years old, but I just joined this group and wanted to give you some hope. I am 24 years old, and diagnosed AHO (PHP 1a) at the age of 11. I took growth hormone replacement therapy until 15 and although teen years were rough with insecurities and I am just now getting a resurface of hormone issues after being pregnant, I can assure you that I am getting along just fine with this disease :). My issue is it was forgotten about and has gone unmonitored since my growth plates closing. I have two bachelors degrees and am going for my masters degree in social work, with a 3.7 GPA. Hope your children are well. If you would like to contact me with more questions, my email is dallen8@my.hpu.edu

Hi. I have a 3.5 yr old that was diagnosed at 12 months with AHO (PHP 1a). She was only 1600 gram born but it wasnt until she her osteoma cutis were diagnosed that she got her diagnosis. Her DNA testing came back with a 4 gene deletion that was consistent with Albrights and gave the doctors molecular evidence that their clinical diagnosis was correct. What problems if any have you had over the years. My daughters growth is still an issue but she is following her own bell curve on the growth chart it is just well below normal. kind regards sue

After I was done growing, I wasn't treated for anything anymore and I think that's what led to a resurfacing of problems. I suffered from panic attacks and depression and a heart murmur (you'd think they would have made the connection), as well as acne and many other hormonal issues. I was recently diagnosed with leaky gut and hypothyroid (I'm convinced I've been hypothyroid this entire time it was just overlooked) so I'm beginning treatment now. I would recommend watching your child's hormones and staying close with your endo. I just recently stopped getting my period and that is starting up a whole new era of hormonal issues, again which probably could have been avoided had my hormones been monitored closely. I would also recommend a gluten free diet, as well as watching other food intolerances. I now have a number of them from not keeping a healthy diet over the years.

Thankyou for your speedy reply. Our little girl has some very unusual blood problems that seem to be seperate to the AHO but seems to keep her calcium in a high range rather than low. She has a very low bi carb and is on a low potassium diet as her potassium is too high, Her body doesnt seem too break down wates properly and her urea etc are always high. She was also diagnosed with a heart murmur late last year but the specialist tells me that this is innocent and she will out grow it eventually. I can sympathise with you over the panic attacks and depression. I have suffered from panic attacks and anxiety for years. However i do not have AHO. Our daughter is a sponteaneous mutation......neither myself nor my husband have AHO.. What does the hypothyroid do with regard to effects ???

Dear eatmorepickles and sshark7, I am so encouraged by your posts! My husband has AHO, very well managed, and he is on medication for hypothyroid as well! He did have some growth treatments in the teen years, and had a rough time of it, but we consider ourselves living a good life. And eatmorepickles--you mentioned being pregnant recently. How did that go? Were you ever cautioned about having children because of the condition? My husband and I are planning to start a family and would love some insight. Thanks so much, and God Bless,

sshark7: All the hypothyroid has done for me so far is cause more nutritional deficiencies, so its something to be careful of. AndreaLK: I was not cautioned because my disease had been forgotten about, so it was only recently I contacted my childhood endocrinologist when I had a resurfacing of symptoms due to pregnancy. I was in graduate school and not ready for a child, so I opted to have an abortion. I do not know if it would have gone well or not, but I am kicking myself in the butt nowadays because it seems I may not be able to have babies anymore :/ That's why I strongly suggest keeping watch on your hormones, as problems can arise with any (and in my case ALL - sex, thyroid, adrenal, the works) of them.

Dear Eatmorepickles and AndreaLK, where are you girls from. We are Australian. AndreaLK how did the hypothryroid come about. I am aware that an AHO sufferer is susceptible to it. Layla's Endo is also the head of the Board for the Human Growth Hormone. At this stage she is ok with Laylas growth as she is still growing, however she will be 4 in Jan and is in size 0 & 1's, she has just reached 11kg. Have either of your cases involved the osteoma cutis.. Layla has many patches over her body.

I am replying to "eatmorepickles" who just replied three days ago. I have two children, 11 and 12 with PHP 1a. They are NO WHERE as thin as you!! If that is you in the pic, you look amazing! Did you ever have weight issues? Sounds like your growth hormone worked well, we are not having the same luck, One child was taken off after 1 year (she gained 40 pounds), and my son is going on three years, but no significant height gain. Both of my children have academic issues, but we hope for the best in that area. What lead to your diagnosis? Did you have issues getting pregnant? Did you go through puberty normally? What kind of hormone medication were you on? Thyroid? Thanks for replying!! NichoandKenna (Nicholas and Kenna's mom, I'm writing this under my mothers log in!)

I just left the last message (under my mom's log-in) and I can't believe I never continued down the page, so I just read the other comments!! I too was a spontaneous mutation, neither of my parents were carriers. We are all on a gluten free diet and HIGHLY recommend it! All kinds of issues have been avoided with it. My daughter, who is 12, also has a very hard time keeping her calcium levels below 400. My son is able to keep his around 200, but I know below 100 is the level they are shooting for. Thanks for all of the replies!

Hi guys, this is AndreaLK, now a different name because I created a new log in. Thanks for the reply, pickles. I'm sorry to hear of your struggles with pregnancy now. My husband, who has AHO, and I are still working on having that family. I don't know if his family has ever been tested, but he may be a spontaneous mutation as well. I know he was cautioned against having kids long ago because the transfer rate is 50/50 for those with the disorder. But we have decided that is a risk worth taking. We will stay in contact if anything develops. Hope you ladies and your children are keeping well.

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.

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!

 

 

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 :)