Diagnosis

As most of you know, Richy II (R2) was hospitalized in late November, after a week or more of not wanting to sit up or stand and showing signs of great discomfort and pain any time he was upright. Initially the doctor treated him for constipation, but his symptoms continued. We spent 2 weeks undergoing rigorous testing, CT scans, X-rays, extensive bloodwork and an endoscopy and colonoscopy, among other things. All of his tests came back negative, meaning they found nothing physically wrong to explain his pain and lethargy.

When the staff could find no cause and were at a blank for any further testing to be done, we asked to be sent home to attempt to bring him to some kind of recovery at home, assuming we were dealing with a recovery process from some sort of healed injury. After a few weeks at home, his symptoms grew a little worse. Although we are able to get him to sit up briefly for meals, he seems to have lost the memory of how to feed himself and has to be spoon-fed, and his core strength is so weak that is difficult to keep him upright for the amount of time he needs to consume a good amount of food. As a result, we are supplementing his diet heavily with nutritional shakes. We are able to get him to walk with assistance for a few minutes every day, but he usually cries and seems to be in pain and needs a lot of physical support to remain upright. 

On Friday we met with his longtime pediatrician for her further recommendations. She reminded us that she and Richy’s neurologist have long suspected that Richy’s disabilities and even physical features show signs of a genetic disorder. Given his loss of functional speech gradually since the age of 3, and his progressive loss of other functions, it is their determination that we are facing a degenerative genetic disorder that they do not expect him to recover from. There are countless symptoms to back this diagnosis, now that we have been faced with it. They and the other specialists we have been working with feel that there is nothing more for them to try.

So what does it mean? Let me start by saying we believe that God can heal, and we will ask Him to heal. While we ask and we wait, we will deal with the practical and medical realities. Since this disorder is not known, there is no specific time frame or “schedule”. We are seeing some rapid decline in his will to be active in any way, and he seems to be very, very tired, which is greatly concerning to us.

What we do know is that our timeline with Richy, which we always thought ended with us, very old, changing diapers on a very old man, has been drastically shortened. We will get more finite ideas of what to expect, we hope, in further consultations with the neurologist. Our estimate based on our understanding is that we might have a year, or a few years left to spend with him.  We are aware that since we are dealing with the human brain, that timeline could be further shortened without warning, or that he could unexpectedly regain some function and gain time.

It’s our intention to contend for the most time possible, for the best life. We are scheduled this week for a wheelchair evaluation and will be outfitted with the best option for his specific needs. Someone has paid for us to fly to a church in California that has seen a staggering number of physical healings, others are working to see if we can get into St. Jude’s or the Mayo Clinic for more examinations, and we are planning to get second and third and fourth opinions. We have a lot of options to try, and our heart is to love and to live fully, however this goes.

We are so thankful for the outpouring of support and prayers that many have shown in the last several days. We’re blown away by your generosity and want to assure you that everything you’ve given will be used for travel and expenses to get R2 the best help possible. Thank you from the bottom of our hearts.

A Facebook page has been set up to communicate needs and updates, feel free to join there for the most current information. We ask for your continued prayers.