The topic I’m covering today I hope will help you better understand the complexity of Congenital PHP. There are several ways someone can acquire PHP through tumors both benign and malignant on or around the pituitary gland. However, for a child that is born with it, the lack of development of the pituitary gland can pose all kinds of development issues that fall along the midline of your body. When I first learned about it, I thought to myself, “what the heck is that?” It sounds so foreign to me, but I think over time you will understand it like I do now. I want to give you a bit of history on Von. I love the question/answer format, and I’ve gotten feedback that it’s easy to follow, so I’m using this to explain this part of his disease. I need to give you a bit of info on Von first so you understand how I can to understand this issue. Von was a preemie. He came to the world at 35 weeks. When he was born, he presented a very complex case to the doctors. There were a lot of things that were not adding up with him, and he was much sicker than a 35 week baby should be. A few things that puzzled the doctors were that he had 3 murmurs, 2 in his heart and one at his PDA, the valve that remains open during gestation so the baby doesn’t breathe on their down in womb, he had respiratory issues where it appeared that he may be retracting, and doctors thought it could be due to a weak trachea, he had some significant digestive issues at birth, and his stomach muscles were not fused together. It took a long time – or about 3.5 months to connect all the dots, but eventually he presented his disease via his adrenal crash, and then all the other issues became known as midline defects.
What is a midline defect? Good question! The top of your midline is your pituitary gland. Think of it in simple terms like this (this is how our endocrine doctor explained it), when two cells form, there is a midpoint where they come together and fuse. At that point everything that falls down the middle would be considered midline. They consider the pituitary the top of the midline, and if there is a defect in the development of the midline this can cause a host of other things to not develop properly. Common midline defects that can occur with PHP are cleft lip, cleft palate, optic dysplasia (optic nerves do not form – resulting in blindness), swallowing issues, breathing issues through the trachea, heart murmurs and other heart related defects, Gastrointestinal development issues that can occur in the stomach or any part of the intestines, and there can also be issues with bladders, genital formation, etc. So the damage can be pretty extensive if a child is hit with a very severe form of midline defect. We have met parents with children that cannot eat or swallow, have severe reflux, and the result is they need a feeding tube. We have met parents whose children have had to have their cleft palates and lips surgecially repaired. As you can see, the results of this defect can be severe, life altering and very, very stressful for the parents.
How does this effect Von? Initially we thought the scope of his midline issues were pretty minimal. We have identified the ones I described above. He has two small murmurs that are still open in his heart. The ASD and the VSD are still open, but very small, and the doctors are not concerned. WHEW! Von has always had trouble with being a labored breather. He huffs and puffs more than the average child. Recently he was having asthmatic fits, and it was terrifying for Todd and I to witness. He would literally gasp for breath, become lethargic and cry. We took him to the ER, and they didn’t see anything, but didn’t really look either. We didn’t want to leave our next appointment without a diagnosis so we videotaped an episode of his breathing issues. I brought Von is a couple weeks ago, and he watched the video. He quickly suggested his trachea may have what is called Tracheal milasia. It’s when your trachea goes soft instead of hard. So when Von was exposed to cold air, exercise, being ill, he would have these fits. We treat it now like asthma with a nebulizer. However, we were referred to an ENT, because the pediatrician wants Von’s trachea looked at for a possible midline defect, and he also wants his sinuses looked at as well. He thinks there could be some development issues that didn’t fully take place due to the midline defect he has. We will go in February to see the ENT and possible a pulmonologist.
Will these defects improve on their own? The heart is expected to heal on its own. The stomach muscles are also expected to fuse, but he may have to have surgery to fuse them. The surgery would not be considered until he is a teenager if it is needed. So for now we just watch and see if it will get better. Thus far the muscles do not appear to be fusing, and the result is that Von has a bit of a puffy tummy. We will find out more after our visit to the ENT about the trachea issues.
So it sounds like compared to severe cases of midline defects Von got lucky? Yes, you are correct! The doctors told us how incredibly lucky he is. Not only are his optic nerves formed, there also was no brain damage in his MRI. Brain damage is another issue that can occur when the Pituitary gland does not form.
It must feel good to know his issues are not as severe? It really, really does! When I can put it all in perspective I am GRATEFUL that we are not dealing with some of the issues we have witnessed from other children with this disease. Von is incredibly lucky, and for the most part is pretty unaffected by the midline issues. I’m grateful he can eat and digest on his own. I can’t even tell you how many kids there are in our online support group that has feeding tubes with this condition. It’s heartbreaking for the child and for the parent. There are also children that are severely delayed, and suffer blindness which presents a whole host of difficulties for them and their parents. This disease is no joke, and we are grateful every day that Von’s midline defect appears to be mild in nature.
I’ve learned so much about his disease in the year we have been exposed to it, and I’m truly inspired by the fact that despite all these obstacles my son is such a sweet boy. I know most parents say their kid is the happiest kid out there, but I really believe it. I feel like his happiness comes from a place so deeply within him. In my heart I believe his little mind knows what he has overcome, and I truly believe he’s happy to be here and with his family. That may sound silly because he’s only 15 months, but this kid has been through the ringer and still smiles and giggles all the time. He gets medications 4 times a day and gets a shot every day. He smiles through it all – well not always the shot. My hope is that his story can provide inspiration to those around him and through reading this blog. If he can get through this disease, I truly feel like almost anything is possible. Have a great day!