The Diagnosis(s)

As we headed into the uncertainty of what this next month would bring we couldn't leave the month of January without having even more bad news. On the 31st, just 3 days after learning about Ryan's vision we had to have my sweet and beloved cat Finn put down. It truly was terrible timing but is there ever really a good time for something like that? A few days after that sad event we headed to the hospital with Ryan for his MRI. I won't say what hospital we went to just that it was a fairly unpleasant experience. It taught us that we will only ever take our kids (Ryan specifically) to a pediatric hospital! For his MRI, a dye contrast had been ordered so they needed to get him hooked up to an IV. We didn't know at the time that Ryan had "tricky" veins...boy did we learn quickly and the hard way. He was 'stuck' 6 times with no luck. 3 times in his hands and 3 in his poor little head. He screamed and screamed...it took 3 of us to hold his tiny little 3 month old body down while a nurse poked away at his uncooperative veins. He could take no more...the nurse called down to the MRI unit and told them that they were not going to torture this poor baby anymore and they'd just have to do the MRI without the contrast. They thankfully agreed. Ryan was then sedated and taken down for his test. I will never forget how tiny he looked on that big MRI table and how heartbreaking it was to watch his little body slowly disappear into the 'tube'. After what seemed like a lifetime the test was over and he was back out of the 'tube' and in my arms sleeping away. We all went home to wait for the call.

Later that evening as Quin, Jeff and I were sitting down at the dinner table the phone rang...it was time. The pediatrician gave us the news we didn't want to hear. Ryan had Septo Optic Dysplasia.

I should back up a bit here. When we met with the neurologist a few weeks before, Jeff looked up SOD but didn't tell me he did and therefore also didn't tell me what it meant. So when we got the diagnosis I didn't know what to think (good or bad). When we got off the phone Jeff was upset and I was somewhat in la la land. I said to him, "How bad is it?" He looked at me and all he said was "It's bad.". Now those who know me well know that I am big into Google and looking up anything and everything relating to health conditions (I'm a little paranoid that way). For this I didn't go near the computer for weeks. I just didn't want to know. Irresponsible of me? Yes, probably. But I just wasn't ready to know or accept that something was really wrong with my baby. I just needed to stay in my happy little bubble of denial a little bit longer...it's where I felt safe. I can't remember exactly when I got the nerve to look up SOD but when I did I felt pretty sick and angry.

If you don't yet know what Ryan's condition is all about then here you go:

Septo-optic dysplasia (SOD) is a rare disorder characterized by abnormal development of the optic disk, pituitary deficiencies, and often agenesis (absence) of the septum pellucidum (the part of the brain that separates the anterior horns or the lateral ventricles of the brain). Symptoms may include blindness in one or both eyes, pupil dilation in response to light, nystagmus (a rapid, involuntary to-and-fro movement of the eyes), inward and outward deviation of the eyes, hypotonia (low muscle tone), and hormonal problems. Seizures may also occur. Intellectual problems vary in severity among individuals. While some children with SOD have normal intelligence, others have learning disabilities and mental retardation. Most, however, are developmentally delayed due to vision impairment or neurological problems.

In Ryan's case we knew at the time that he had a significant visual impairment but wasn't completely blind (he had at least light perception), we learned through the standard blood tests that are ordered from an an endocrinologist that so far his pituitary problems were only causing a low thyroid which is easily managed through daily medication. We also knew he had Hypotonia (floppy baby syndrome as it is also called). At the time he displayed no seizure like activity...that was soon to change down the road. The next step in determining his endocrine function was a 5 hour long cortisol and growth hormone test. This happened at 7 months and he was such a trooper. Every half hour he had blood taken through an IV that the pediatric nurse was miraculously able to get going from his head. It was a struggle to get the blood out however, they had to literally squeeze and pull the blood out of his head...this happened 8 times over the 5 hours. He was so exhausted physically when the day was done and I was exhausted emotionally. It was time to go home and wait for the call to tell us if he would require life long growth hormone shots and additional medication to keep his cortisol levels stable. If there were problems with either he would not grow and he would not be able to protect himself from infections. Thankfully his tests came back clear! Good news at last!