No Retreat, No Regrets

So this week was our long awaited appointment with the Neurosurgeon. He basically told us, aside from cutting Spencer open, that he couldn't tell if his spinal cord was tethered or not. We are awaiting his bladder tests next month to see how to proceed. Have I mentioned Spencer's bladder scares the living hell out of me? He may have a neurogenic bladder, which for Spencer means he stores his pee and has problems urinating. If this is the case, then it's likely the spinal cord. He has a 50% chance of his bladder getting better. Medicine also can help, but my biggest fear is cathing Spence. Not only would it be hard with his anatomy, but I know he would go nuts. The other option would be surgical. In my mind, when we start cathing or have a drain put in, that we are starting to fight a losing battle. Aside from his feeding tube, he has every potential to be independent as a growing child. However, he can't cath himself. We are now getting to the place where it's starting to become clear that Spencer's issues are more than just needing to catch up. The doctor's keep telling me that I'm not in denial about him catching up and being a typical kid. He's smart, you can't deny it, but I know he'll always have some issues. Now that we have a genetic diagnosis, we kind of have a guide. This guide doesn't mean that Spencer will be how all the other Ohdo kids are...on an Ohdo level, he's quite high functioning. I think he'll always have issues walking and talking. Even with his hearing being great with his aids, he will still have voice issues with that, let alone the cranio facial muscle weakness. I fear as soon as we get his AFOs, he'll always need them. I'm so sick of appointments. I'm sick of doctor's telling me he's fine, and another doctor telling me something could be majorly wrong. At what point do we tell them to fuck off? I have made nearly every medical decision for Spencer, told the doc what we were going to do, and they were essentially a sound board. Every time we go to an appointment we are told to come back in 3,6, or 12 months. When will we be told to only come back if something falls off? Do we really need to see ortho every three months only to come to the appointment and have them wiggle his foot? Or to go to his other ortho and be told he's doing great and to come back in a year? We have three eye doctors and three ear doctors. Seriously...what gives? I keep telling myself when he starts school I'll be able to start teaching. I want to teach. I need to do something productive beside being Spencer's mom. I love him with every single ounce of my being, but I want to go to work and feel like I'm making a difference. The likelihood is that there will always be appointments and that depresses the hell out of me.

So really, I have to pee??

Today was Spencer's neurosurgery consult. I was scared shitless and have been worrying about this appointment for weeks. Little scares me nowadays, but honestly the thought of my son having surgery on his spine terrifies me. We got mixed news. The MRI showed that his spinal cord ends short, but doesn't have the typical signs of tethering. We have a series of bladder tests coming up, which if we get bad news it could point to his spinal cord needing untethered.

Spencer may have a neurogenic bladder. If it is, he gets surgery and has a fifty percent chance of getting better. Right now we are concerned about his urine output. He stays dry throughout the night and usually for a few hours after waking up. It could be explained by blended diet and not doing feeds at night, but we're really just unsure. He will have a series of tests on May 9th to see if everything is functioning normally.

He was also fitted for AFO/SMOs today. Basically these braces will give him support while standing and crawling. The orthotist was mildly concerned about Spencer's left knee and the braces. Since he has a contractor in his left knee, his knee doesn't completely straighten out. In an AFO, this may make his left leg shorter. If that happens, he will get a heel insert for his shoes. Immediately I asked if he would have to have special shoes with a lift...because I had a teacher in high school who had to and they were super ugly...he assured me he wouldn't. We should have his braces back on the 14th, and then we have to go shoe shopping.

I'm so sick of catering to Spencer's various assorted medical equipment. He can't wear pajamas with feet in them because of his club foot bar and he can't wear zip up ones because of his pulse ox. Onesies are awful on him, not only because of his freakishly long torso, and that he has to get hooked up for his feeds. Trying to tube feed when he is wearing a onesie and pants is a nightmare. He can't wear adorable little hats because of sensory issues and his hearing aids. Gloves are the ultimate no-no! Now we get to buy shoes that are bigger than his natural shoe size because of his AFO's. I'm assuming that we'll have to have shoes that will also fit him without them on, because I'm sure there will be times where he'll be out of his braces. At least his feet grow super slow. We are looking at Nike Lunarglides and more Stride Rites, which we love. I'm hoping to find a new pair of Chuck Taylors that will fit around them. We'll see. We have put off buying new shoes because we knew the braces were coming, so now he needs a couple of pairs.

End of ramble!

Answers.

We have a diagnosis. Spencer has Say Barber Biesecker Young-Simpson type Ohdo Syndrome. His test results came back today and everyone was surprised they came back conclusive. While we can finally stop looking for a diagnosis, we're not really sure how to accept the news.

On paper, Spencer will be disabled for the rest of his life. He will always struggle in school and have either mental retardation or severe learning disabilities. He will always have motor problems. He will always have speech and eating problems. He will never go to college, marry, or give me grandchildren.

But that is on paper.

I refuse to accept what is written down as generalizations in research articles. They just found the gene. Most of the kids who have been lopped into having Ohdo will be excluded now. While Spencer is the poster child for Ohdo, he also defies the research. He is clearly smart. While we can't rule out any mental disabilities, he is clearly not severely mentally disabled. He has been in therapy since he was two days old and is thriving.

It's my hope that with more kids being excluded and genetically confirmed as having Ohdo, that the range of abilities will vary greatly and appear more optimistic. From the parents that I know who kids likely have Ohdo, their kids have problems but are still able to learn and communicate, whether it's verbal, computer generated, or signed. Even in our little community, the range of abilities vary.

And even if the generalizations are right, Spencer is an amazing person. I have no doubt he'll grow into an amazing man. All we can do is help him any way we can and to hope.

While this diagnosis is bittersweet, it's still an answer. We can stop looking for one. We are taking it as good news!

Doodle Torture

Just realized I didn't update this thing after Spencer was put back in the hospital. After the initial three days we were home for a day and went back for three more. He's doing great now although took a while to get back to normal.

While he was in the hospital his gait trainer came. Naturally, he's terrified of it. We're working on it though. We're pretty excited to see him use it. We have to put him in it for ten minutes a day, which we call Doodle Torture.

His birthday went really well. A friend from work made him some gluten free sesame street cupcakes and Elmo cakes. They were delicious. He got tons of presents, including a toy we had banned everyone from buying him. It's this really annoying puppy thing that sings. Naturally he loves it.

Spencer's last day with his awesome speech therapist was on Thurs. She decided to take a job with less hours because she's expecting. While we are super excited for her, we'll miss her. Spencer starts next week with Kim, who is hardcore. I love it. The problem with his old therapist was that she was a sucker...Spencer had her wrapped around his finger. Kim is a seasoned vet and knows all the tricks:)