I thought it might be informative to post the conditions/issues that our children are experiencing as a result of AHO/PHP 1A. My 3 year old boy has: - GERD (Gastroesophageal Reflux Disorder) - Chronic Ear infections - hearing loss (conductive) - Congenital Heart Disease (coarctation of aorta, Ventricular Septal Defect, Atrial Septal Defect) - expressive speech delay - fine motor delays - gross motor delays - Asthma - Chronic respiratory infections - tracheobronchomalacia - feeding difficulties/picky eater - hypothyroidism - mild sensory issues (noise, tactile, busy environments) - short attention span (possible ADD or ADHD) - impaired executive functioning (ie. short term and visual memory) - Osteopenia - tiny hands and feet - prone to looking 'chubby' despite food intake - very clingy to me (mom) - breath holding spells (when is very upset, he turns blue, has seizure like behaviour, passes out, and then regains consciousness)

We have experienced every symptom described above. Our heart conditions were slightly different. Biscuspid valve hypertrophic cardiomyopathy we also had cortisol deficiency and growth hormone deficiency. When our children were babies they were both failure to thrive, poor eaters. seizures and breath holding spells

We have to some degree also experienced many of the symptoms you both have had. Happily I will say my 8 year old is growing out of / dealing with sensory issues much better as she gets older. We are also having dental issues, my son is missing 21 of his permenant teeth and at three had surgery due to his skull fuseing together too early. I wanted to ask about heart issues. My children were both very recently diagnosed with AHO and nothing has been said about an EKG or anything to do with heart issues. Did you know there was a heart issue prior to the AHO diagnosis? Both of my children wear bilateral hearing aides due to conductive hearing loss, has anyone been told this has been linked to AHO? The geneticist at U of M said it was not linked, but I'm not sure that's really true. Thanks - Katie

I have read that hearing loss is sometimes linked to congenital hypothyroidism but not specifically AHO. Also, AHO children can have small ear canals so that can cause chronic ear infections. Also, as far as the heart I have never been told that there is a link. However, I have heard of many AHO patients with heart abnormalities so.... We had my daughter's heart checked recently and it was perfect. We attributed my son's heart issues to my pregnancy. I developed gestational diabetes.

sadie, or 2.5 year old had -cesarean delivery due to decreased fetal movement which were dips and pauses in fetal heart rate at 40 weeks -GERD her first week of life, but I think this was a misdiagnosis -failure to thrive and feeding issues 5 weeks later which with amino-acids based formula completely turned around (clinical milk protein allergy diagnosis) Now she has: -small hands and feet -top of the chart on weight/bottom of the chart on length -mild gross and fine motor delays -seems to have sensory issues (gravitational insecurity, auditory, vestibular system) -very clingy to mom (but is this part of the hospital stays, etc.? seems to regress to this more every time we go back for a stint) -vesicoureteral reflux grade 4 bilateral (which leads to UTIs) -hypothyroidism -PHP1a -incomplete set of 2.5 year old teeth

My son has every thing you listed also I believe. He's 3 and way at the top of his weight list and height. He has had 2 sets of tubes so far in his ears. WOW I'm amazed reading the list because it's him to a T

It's so great to hear about others with ear tubes. My kids are on their 3rd set and hopefully their last, but they didn't have a lot of infections, just nasty goop in there. From birth both kids were way at the top of the weight chart and my daughter for the most part was always over 100%, and of course somewhere around 15% for height. My daughter seems to have been "hit" much harder compared to my son. I say that because she has more physical symptoms, the hands and feet, the round face...Thank you to everyone who has been posting. It's so great one for us to actually have a diagnosis. Five years of feeling like you're a crazy mom and now to really have a diagnosis makes me feel so much better, no matter what it is. And two to know there are others out there going through this. I wish you all the best!

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!

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.

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