Hi everyone. I’m hoping to find some advice for my son, Beau, who is 2 months old. We’ve been in the hospital trying to figure out what is going on with him, and I’m feeling overwhelmed trying to put all the pieces together. I’m hoping someone here might have experience with Pallister-Hall syndrome or know of doctors who specialize in it.
Beau has been having breathing episodes, struggling with feeding, and having trouble gaining weight. During all of his testing, we’ve discovered several abnormalities.
So far, we know he has:
A bifid epiglottis, meaning his epiglottis is split in two. His doctor told us they had never seen anything like it before.
An abnormal tracheal ring that was found during his airway evaluation.
A kidney abnormality found on ultrasound.
Breathing episodes involving retractions, tracheal tugging, and other concerning changes.
Feeding difficulties and poor weight gain. He has had a swallow study, which did not show aspiration.
Possible endocrine issues, including concerns about his cortisol levels and other hormone functions.
We suspect Pallister-Hall syndrome could explain some of these findings, but we don’t have a confirmed diagnosis yet. We are still trying to figure out if everything is connected or if there is something else going on.
One of my biggest concerns right now is that Beau has not had a brain MRI. We were told that the risks of anesthesia outweigh the benefits at this time. I understand that he is little and already has breathing difficulties, but it’s hard not knowing if there could be a hypothalamic hamartoma or another brain abnormality associated with a condition like Pallister-Hall.
I really want to get him a second opinion at one of the best children’s hospitals in the country, preferably somewhere with doctors who have actually seen cases like his. We need someone who can look at everything together instead of each issue being looked at separately.
I have a few questions for anyone who might be able to help:
Does anyone have a child with Pallister-Hall syndrome, especially a child without extra fingers or toes?
Has anyone heard of or encountered a bifid epiglottis along with a tracheal abnormality and kidney findings?
Are there any doctors or children’s hospitals in the US that are especially experienced with Pallister-Hall syndrome or rare congenital conditions like this?
Has anyone been in a situation where doctors wanted to delay a brain MRI because of anesthesia risks? What did you do?
Are there any other conditions we should be asking about that could explain these findings together?
I’m not looking for anyone to diagnose my son on Reddit. I’m just a mom trying to find answers and make sure we’re getting him the best care possible. It’s incredibly difficult when even the doctors caring for him haven’t seen some of these findings before.
If anyone has personal experience, knows a specialist, or can point me toward research or resources, I would be so grateful. Thank you ❤️

Hello, I wanted to write this so that I may share my family’s story in hopes that it might help others. My 9 year old little girl was diagnosed with Cushing’s disease about a month ago. Her case of Cushing’s was extremely fast progressing and many professionals told us it was the fastest progression they had seen within an already rare diagnosis. My daughter gained 30 pounds in 3 months and went from a petite 45 pounds to 75 pounds in that time. We took her to a primary care physician when she had gained about 15 pounds and she said it could be normal but wanted to run some tests. All her numbers were good except cortisol was high. She said it may still not be anything but referred us to an endocrinologist at Phoenix Children’s Hospital. The endocrinologist said he doubted it was Cushing’s because it was so rare and he had never seen a case before and suspected increased adrenal activity that starts before puberty but he ordered another type of cortisol test to be safe. At this point her blood pressure was still normal and her only symptoms presented were weight gain and moon face (rounded face). The second cortisol test came back extremely elevated at greater than 30 times the normal cortisol level. He called us and said he suspected Cushing’s disease but was still skeptical because of its rarity. He ordered an MRI and the MRI showed a 4.3 millimeter microadenoma on the left side of her pituitary gland. This confirmed the diagnoses. At this point my daughter was still gaining weight and now she had terrible heart burn, severe gastrointestinal issues, chest pains accompanied by high blood pressure (had to be put on blood pressure meds), severe mood swings, she was more quite and her immune system was suppressed and sicknesses were very hard to get over. It seemed like for a while we were experiencing a daily progression in symptoms with many starting at the night time. Our endocrinologist said they didn’t have any surgeons there that were familiar with the surgery required for this condition and that he was searching for answers. Around this same time we told the Priest of my church our struggles and he mentioned a member of our community was the head of neurosurgery for a large hospital in the valley. We met him days later and he mentioned he was familiar with Cushing’s and he had previously worked at the NIH (National Institute of Health) and the best surgeons in the world for Cushing’s were there and that he would make some calls. Oddly a couple days before meeting him I googled the best surgeons for this condition and came across a name Dr. Prashant Chittiboina. The next day after I had talked to and met the parishioner, head neurosurgeon I got a call and it’s Dr. Chittiboina and he mentions they wanted to include my daughter in a study for Cushing’s and would treat her. The NIH is at the head of medical research and breakthrough and they specialize in the rare things like Cushing’s disease among other things. Within another week we were on a plane to Bethesda, Maryland to the NIH. We were admitted into the children’s inn which has been wonderful and our accommodations were covered as far as travel, lodging, food, in addition to the treatment my daughter would receive at the NIH. We have been here now almost 3 weeks and my daughter had her surgery 4 days ago. She spent 2 days in ICU after. They had to remove part of the cavernous wall since the tumor had grown onto that as well. She has been in pain and very swollen but is starting to improve. We are now in another room of the hospital. They are constantly monitoring her cortisol levels, potassium, sodium, urine, hormones and so much more. The level of care and attention to the details is astounding. I never imagined this level of care existed. Dr. Chittiboina and his team are real life superheroes. We have met children with Cushing’s and other rare diseases from all over the world. Some of whom it took years to be properly diagnosed, some who came here also had surgeries which were unsuccessful elsewhere that Dr. Chittiboina was able to succeed in. We are currently still monitoring her cortisol which has crashed and they have started to supplement with cortisol now until her body can regulate itself which can take up to a year. The pituitary gland is vitally important and impacts so much of what happens in the body. I am afraid to go home because I can’t monitor her the way they are and we have been on such a roller coaster with the numbers. I trust that they will not send us home until she is stable and they have us on a solid plan that we can follow. I hope this can help others and if you are struggling with this condition or something else that is rare please look into the NIH and ask them if you might be able to join a study. It is so important the NIH is funded for the sake of humanity and these breakthroughs. Cushing’s disease is rare today and they don’t know what causes it which is partially what the research here is for and in the event in the future it does become more common the research done here at the NIH can save countless lives the way it has my daughter’s. The research, these skilled surgeons, the medical team and nursing staff are saving lives today. During our struggles we have had a lot of angels around us. Sometimes a miracle is not miraculous healing but rather the pieces falling into place and finding the right people at just the right time. We are forever grateful to our church, the NIH and Dr. Chittiboina and his team. We are also grateful for the prayers of many and our community and our family who helped us so much during this time of suffering and I truly believe God orchestrated these miraculous providential happenings through the prayers and hands of many involved.