Greyson-Age 1 Diagnosis unknown (connective tissue disorder) USA
Greyson was born on August 16, 2013, a seemingly healthy baby boy. He was very long and thin, but his father and sister are very tall, so no one found it particularly unusual. In his first few days he seemed particularly sleepy and had a tough time waking up long enough to eat. The pediatrician advised us to just keep working with him. At nine days he had a seizure brought on by hypoglycemia and was admitted to the hospital. This was the first of many hospitalizations. A battery of tests revealed that Greyson has the following:
-A dilated ascending aorta -Severe central apnea (oxygen desaturations to the 40’s) -Severe obstructive apnea -Micrognathia/retrognathia (underdeveloped and recessed lower jaw)
-Dysphagia (swallowing difficulties), leading to aspiration -Difficulty digesting proteins -Severe reflux -Hernias -Hypotonia -Joint hyperflexibility
He was initially tested for diseases of inborn errors of metabolism. Those tests came back negative. He was also tested for chromosomal abnormalities. Those tests were also negative. He tested negative for Congenital Central Hypoventilation Syndrome. His dilated aorta points to a connective tissue disease, but his symptoms do not quite match the most common of those disorders (Infantile Marfan syndrome, Loeys-Dietz syndrome, etc.), as it is unusual for infants with those disorders to have breathing difficulties. Further, most connective tissue disorders involve a dilated aortic root, rather than a dilated ascending aorta, so his presentation is quite unusual. His dilated aorta is his most dangerous issue, as dilated aortas can dissect.
The geneticists he sees would like to do whole exome sequencing, but Medicaid will not pay for it. We tried to enroll him in a study at Johns Hopkins that would have provided such sequencing, but the committee did not accept him. At this point, we have no option but to accept the fact that we may never have a definitive diagnosis and simply treat his symptoms as they occur. This is problematic, however, as different connective tissue diseases bring with them different risks for aortic dissection. Some diseases cause dissection at a smaller aortic diameter than others. Because we do not know exactly which disease he has, the doctors have no clear guidelines on when his aorta should be replaced.
He has had two airway surgeries (supraglottoplasty, tongue-lip adhesion) and is on oxygen, as his airway issues were life threatening. His small, recessed chin and jaw make it very difficult to intubate him during surgery, and he had great difficulty being on the ventilator after his tongue-lip adhesion surgery.
He had a Nissen fundoplication surgery for his reflux, and is tube fed an animo acid formula due to his food intolerances and swallowing issues. Even with tube feedings, he is very underweight for his length, although he is starting to close that gap. He has echocardiograms of his heart every six months, and his aorta continues to dilate. He has had surgery for his hernias, and has also had tubes placed in his ears. He sees a variety of therapists at home several times a month to help with his development.
Despite his litany of health issues, Greyson is a happy, loving little muffin. His smile and his big soulful eyes absolutely charm everyone who meets him. He loves nothing more than to snuggle, and will try to kiss your nose when you hold him. While he can’t crawl, he rolls around the house to get where he wants to go.
He uses his feet to hold his toys so that he can play with them. He can sit for short periods of time and is working to learn to push himself into a sitting position independently. He is very quiet, but he does like to laugh!
We have learned that every day Greyson is healthy is a day to celebrate. He is a great source of joy for our family, and we think he’s perfect just the way he is. His big sister loves to help with his care and he smiles brightly whenever he sees her. While we do not know what the future will hold for Greyson, we are very grateful he is a part of our lives. He is our little fighter.
Update on Greyson!
Greyson received results from a whole exome sequence. Even though it didn’t result in a firm diagnosis, they did find a gene mutation in the tnxB gene which may be contributing to his heart, skin, muscle, and joint problems, but does not account for his other symptoms. We will share more when we receive new information.