Undiagnosed - need help -> newborn, neurological, swallowing, weight loss, lost vision, metabolic disorder???

Last Tuesday, February 13th, Joey had a follow up appt with our Pediatrician. During this visit, the doctor was concerned because Joey had lost 14 ounces over a 1 week period. We were concerned because we were having increased difficulty getting him to eat like he used to, and he was beginning to wake up screaming at night but not want to eat. The doctor was also concerned because Joey鈥檚 tremors appeared to have increased, and he was making bizarre facial gestures (in her opinion). Needless to say, she was concerned that he was having increased seizure activity and wanted us to go to the hospital immediately. We were not pleased with our experience at CHOP and were in the process of transferring Joey鈥檚 records to Dupont, so we decided to head to their ER department.

Joey was admitted to Dupont to 3E on 2/13. He was admitted by a general Pediatrician who is also a Diagnostician. He is by far one of the most wonderful doctors I have ever met, and Steve and I feel completely at ease and at peace knowing that Joey鈥檚 life, essentially, is in his hands. His job is to look at the whole picture and get to the bottom of whatever it is that is causing Joey鈥檚 problems. He then pulls in the needed specialists to treat each specific issue; all the while making sure no stone is left unturned. Every genetic, metabolic, and freak-of-nature disease test is being done to get to the bottom of this.

Since Joey鈥檚 admission, we have learned that he has lost his vision. They believe he had some vision at one time, as the structure of his eyes is normal. The problem lies with the pathway from the retina to the back of his brain. Basically, his eyes can see, his brain cannot. This was a major blow to us, but it was only the beginning of bad news. Meanwhile, we were just happy to finally have doctors who cared and wanted to get to the bottom of his illness. We were completely blown off by the Neurologists at CHOP who didn鈥檛 want to see Joey for months; meanwhile, he is rapidly declining.

The EEG confirmed that Joey is NOT having seizures. His jerky movements/tremors are not seizures but more of a muscular reaction, so to speak. He had a complete GI work up to rule out severe reflux as a cause for his screaming; however, his reflux is mild and not likely the culprit of the screaming. Nonetheless, he has still been put on a strong anti-acid medication, Prevacid, to treat the reflux and be sure that that, in itself, is not cause for any discomfort. Therefore, the screaming episodes he is having are not really Reflux related, and it is believed that they are more neurological. This means that we will still have to contend with them and hope to find ways to comfort him and keep him safe when they occur. This was the one thing we wanted 鈥渃ured鈥? but it does not appear we can do anything medical to treat this, as it is a more behavioral reaction than a symptom of something.

The Neurologist we saw informed us that he believes that Joey is on a downward slide. Basically, there is something going on at a cellular level causing him to deteriorate. Whether it is something in his brain or some autosomal problem or metabolic disorder, etc., remains to still be determined. But the bottom line is that unless he starts to level off, he will continue to deteriorate and death is the end result. How long that will take, we don鈥檛 know. Our goal at this time is to make him as comfortable as possible and treat each symptom as best we can in order to make him the best little Joey he can be. Simultaneously, we will not stop until we can put a name to this disease. Whatever he has could be so rare that it could take months to find out or it could be so abstract that it could be named after him if this is the first case. Joey鈥檚 symptoms fit into several categories; however, his head is of normal size so it makes diagnosis hard. The next few months will be crucial in helping to determine what is going to ultimately happen. We have to see how or if he continues to develop in order to help narrow the field. Also, over the next 2 to 6 weeks, the results of the more complex testing will start to arrive.

Since his arrival in the hospital, Joey鈥檚 ability to swallow and effectively eat has deteriorated. His swallow study showed that he was aspirating his formula. The good thing is that he is allowed to safely consume nourishment from a bottle as long as it is honey-thickened. His bottles are now thickened like the consistency of runny oatmeal. However, his ability to coordinate sucking and swallowing is impaired. His swallow is delayed and his tongue thrusts outward, therefore, it is work for the poor guy to only take in about 2-3 ounces. We now have to use our fingers to support his jaw and cheek when he eats. Since he was continuing to lose weight despite all these efforts, an NG (nasogastic) tube was inserted on Sunday. Therefore, we can initiate bottle feeding first, and what ever he does not consume is then calculated and fed to him in liquid form via the NG tube. This is done every 3 hours around the clock. We will meet with the doctor before coming home to figure out how we can make this schedule work realistically at home, as there is no way we can maintain that schedule at home without becoming exhausted. He will be coming home with the NG tube, and he will have it for an undetermined amount of time.

Hoping he can establish a steady weight pattern and stop vomiting the tube feeds.

Any helpful insight would be greatly appreciated. Thank you.

thank you for the kind words. this is a situation with my friend's child. I am just trying to help out by posting details about the illness to see if anyone has ideas. Thanks again!

Have they looked at mito disorders? Also, rett syndrome can cause rapid decline in boys. My daughter has RS and has many of the things you describe. I don't understand why the DRs are so sure he does not have bigger reflux problems. My daughter screamed and screamed until we got reflux under control and there was no test they did to determine reflux, just by her symptoms.

poor little guy, what can i say just pray that god will help him

I am very sorry to hear about that. I was reading your story and could not hold my tears in, which is weird because I never cry. I feel for you and your family right now. I hope everything goes well with his treatment. I would really like to know how his tests come out. Keep your head up, everything will work out for the best. God works in mysterious ways, and we don't know why. All I know is god only gives a person things they are strong enough to handle, your little Joey is a very strong little boy, and he is a fighter, be proud of him for all he has dealt with. You are also a very strong person to be able to care for him. I have a two year old son, and the stress of just raising a child seems unbearable sometimes, the stress of handling a sick child would be the hardest thing to do. My son was born with a cleft lip and I thought it was the end of the world, sugery fixed it and he is a normal little boy with a small scar, it is stories like yours that make me truly appreciate what I have and not what I don't have. My heart and prayers are with you forever, this is a story I will remember for years to come.

Have they looked into allergies? I have seen studies where certain things like soy and/or gluten needs to be avoided especially with some neurological problems. It is definitely something I would look into if I was you. My heart goes out to you and you will be in my prayers and I will pass you along to our churches prayer chain. I am going to leave my website address and you can email me through that site. I would love to know what happens plus I am a nurse so if you have any questions that you need to have answered I will try to answer it to the best of my abilities. I have some questions for you. When he cries out what calms him down? Does he respond positively when he is held, sang to, or being talked to? Are they giving him anything for possible pain?

Tammy
www.tammystendertouches.com