Silas Pope UBA5 Story

*****SILAS A. POPE*****

The past 4 1/2 months have been a lot. From when baby Silas was born till now, we have had 3 hospital stays over 5 to 15 days each. Being born breech was my biggest concern when I seen his little feet and how they looked different from every child I have had previously. But then other things started coming up from your rare backs (seen in some pictures and videos) to his tremors and his small chin and little ears. Then we went in for his 2 month old check up and shots in September of this year, that was again the least of my concerns because at this point he wasn’t gaining weight like all my other little ones. We just thought he was going to be smaller and would start growing eventually. Through different formulas to different bottles, we tried everything in the book, our pediatric doctor wanted us to go to Brenner’s Children’s Hospital in Winston Salem to be checked and that was our 2nd time we got put inpatient. (The first was right when he was born and released 5 days later.) Then the tests started coming from blood work to XRays and all kinds of imagining and the genetics work up. During this time they had seen one of his full body X-rays and see his right shoulder and thought it was a healing fracture and at that point we was put under surveillance by a camera being put in his room cause they thought we/me was abusing him. Not if everything else wasn’t stressful, they had to do it to be sure Silas was ok. They found a “Extra” bone overlapping his shoulder and after 5 days of being watched they then took the camera out and said they was sorry but it was protocol. Then her came the EKG and the EEG and they wrapped his head up with so much things attached to his head for 24 hours, all he did was cry and I did with him but I didn’t in front of him. I had when int the bathroom and got down on my knees and put my head in my hands and just let go asking God to help not only Silas but myself and the rest of our family. He was only 6lbs and a few ounces and they finally took everything off him along with some of his hair. He finally gained up to a little over 7 lbs in 15 days and they had done all the testing they could do at this point which included 2 more phases of genetic testing and looking at his chromosome’s as well as mine and Jonathan Pope and they put in a gtube for his feeding and let us go home. Then he started losing his weight again and having so many issues with his gtube, as in feedings leaking around his gtube to him pulling his gtube out cause I know it was irritating him so much. We was told it would take months to get his genetic testing back to find a diagnosis cause they couldn’t pinpoint all his symptoms to one diagnosis. Waiting and watching your baby that can not tell you what’s wrong was unbearable and hard to watch. Then we got told he needed to go back to the hospital and go through the ED once more and after 3 days in the ED we got a room back upstairs where we was before. The nurses was happy to see us back but also sad cause they know if they see you again they still haven’t figured out what was wrong. The doctor’s was on top of thing and reached out to the genetics doctor and she then put getting his results in at the top of the list. After 7 days we got to go home and wait again. The next week which was December 19th we got a phone call telling us they got his blood work for genetics and our back in and had a diagnosis. I asked if she could call back later so Jonathan and I could be together listening to what we was getting told instead of me being alone. At 4:45pm we got the call and my heart sank and I kinda knew something wasn’t right in my gut.

“Mr and Mrs Pope we just wanted to give you the update of what we have been able to diagnosis your son Silas with. If you want to get a pin and piece of paper to write things down please do” so I went and got what I needed and told her we was ready. “What your son has is a very rare disorder/disability that only 30-40 people have it world wide! This is called “UBA5”.” She then told us to keep our appointment in January to go over it more extensive than what she did on the phone. She did tell us more than what I have said but I didn’t want to type it all out cause I know I will start crying again. As you know, with such a rare condition there are no cures for it as of now and they can only treat the symptoms as they come. After getting off the phone with her, we both was speechless and trying to let what we was just told sink in. I felt numb and helpless. I felt so many emotions at that point I just needed to sit alone for a minute. Being told what my little baby boy has and how rare it is and what %age of life he might have all I could do is kneel down and start praying and talking to God about it. I will go to the ends of the earth to help my son fight but I know who is in control of this situation and I know God has already healed him no matter what the outcome. I have copied and pasted a short paragraph below to kinda give you a definition of his diagnosis from the dr but I know what God’s plan is over our plans and his ways are over our ways. I will still praise him through this even if it may be hard. I will still sing of his mercies and his love forever. I will still go and declare the word of the Lord because he is a miracle working God.

UBA5 disorder, a life-threatening progressive neurological disorder, typically involves muscle floppiness as well as stiffness, seizures, movement disorder, brain abnormalities, intellectual disability, poor head growth and failure to thrive. Caused by a gene mutation, there are only around 30 known cases in the world.