And we have some normal!

Spencer had an amazing couple of days at therapy. He decided that he really likes Capri Sun and started drinking from his sippy cup like a champ after therapy today. He was just, "eh," about it after therapy yesterday, but give him a sugar filled drink, and he's very interested. During PT yesterday he got into his walker without throwing a fit and took like six steps. His PT, along with us too, are really noticing what a huge difference the AFOs are making in Spence. He is also starting to stretch out his left knee! We got some sad news today, which turned into happy news. Spencer's absolute favorite therapist is leaving the practice to start a school for autistic children. While she will do so much good, I told her she was breaking our heart. I mentioned that we always said we would follow her wherever she went, but we can't follow her to an Autism school (one diagnosis we don't have). She asked me to talk to her outside of the building and told me that in order to get the license to open the school, she and her partner had to start their own private therapy practice. They are waiting for paperwork to come back from the state to be approved to bill medicade. She said in addition from doing the school stuff, she is doing home health and wanted to continue to be Spencer's OT. She says she wants to be there when he walks across the stage for high school graduation, for everything. It's amazing that we have a therapist that loves Spencer almost as much as we do. You have to understand, these two have some incredible bond. Spencer absolutely lights up when you even mention her name. I knew something was up when she was nearly in tears when she saw us today and I was too (another mom told me while we were in the waiting room). She has always freely admitted that he is her favorite patient. I also told her if she needed any help with the school, that I would be more than happy to help out...maybe my degree in education can help do some good. We may have to use a different OT for a few weeks, but it looks like Miss Courtney is going to stay in our lives for a while. I've been pretty concerned about Spencer's lack of speech lately. His speech therapist has admitted that he hasn't talked for her at all. He goes through bouts where he talks a lot for a few days and then nothing for months. I'm also starting to think about school and preschool...more specifically the accomidations he'll need for school. We've been talking about getting him a wheel chair for school. Even if he is awesome at his gait trainer, he still may need a chair for field trips and such. I'm going to talk to the school about what they require in the fall so we can start the process.

Xmen.

So Spencer had surgeries number 21,22, and 23 this week. Keep in mind he's only been alive for 26 months. He had his other testicle lowered, his superior adendoids removed and new PE tubes placed. His new ear tubes are a little more permanent than his old ones, which we are thinking he'll need long into his childhood since he is a Pierre Robin kid. The surgery went fine, although Dr Alam, his urologist, took longer than he should of and that worried us. Spencer has some screwy anatomy. He was only able to bring his testicle to right above his penis, like the other. He says he can finish the job when he's older. He said this testicle, like the other, was in bad shape but is working, although it's likely that Spencer cannot have children. We also discussed the results of his bladder study. Spencer' bladder is the wrong shape and borderlines on neurogenic. While this means we'll likely have to go searching for the tethered cord, it also means that we will hopefully avoid cathing him for the long haul. Of course he'll still have to see urology every six months and will have other surgeries in that area in the future, but for right now we're done on that area of the body which is a relief. Urology also put a new idea in to our heads. Kids with cranio facial anamolies typically don't have anything wrong with their spine. He also says it's not an Ohdo thing either. So as of now, his bladder abnormalities and spinal stuff is unexplained. While kids with Ohdo do have skeletal malformations, it's typically with limbs. I'll talk to Hopkin about it next time we seem him. He'll know more or try to figure out if Spencer has another genetic condition to add to the mix. We also followed up with dentistry the day before surgery. I was super paranoid about his teeth and the buildup that was forming on them. The dentist told us the buildup was actually a protective coating that kids with feeding tubes often have. So basically Spencer has super mutant strength teeth, which further confirms our belief that Spencer is a future member of the Xmen.

Can we just have a little normal?

So the urodynamics testing today sucked. Bad. It was nearly as bad as his EMG and I was solo. Round 1: The nurses drained his bladder and drained 120 ccs of fluid. They then filled his bladder with saline to see how long it would take him to pee. Meanwhile, he is screaming is head off. It didn't hurt, just uncomfortable. They got it up to 240ccs before they gave up. They said he had high pressures in his bladder. He pooped at the very end...just enough to keep them on their toes. Round 2: Ultra sound of his bladder and kidneys. This went quite well. We end up with the same radiology tech the once every few months we go...I think we're on first name basis now. She remembers Spencer because he is the "short bowel intussesption kid"....he had a intussesption resolve itself on ultrasound once...pretty rare. Our peds thought it was the greatest thing ever...anyhow, Spencer mellowed out and watched some Diego. At least it wasn't Sesame Street. Round 3: This time we were in the xray room. His bladder was filled up with contrast and another catheter was inserted. They filled him up to capacity, 250ccs (super bladder!), and he started to pee in spurts. Then they broke out the warm water. After not doing anything for a few minutes, he caught them off guard and peed like mad all over the side of the xray machine. The doctor and nurse doing the test must really love their jobs....anyhow, his bladder shape is good, and he is voiding all the way, but they suspect he is borderline neurogenic bladder. At this point, we don't know what this means for Spencer. All signs point to him having the tethered spinal cord. I suspect we'll be going into surgery for it...and soon. I'm waiting for urology to get the results and we'll go from there. I'm also paranoid about Spencer's teeth. He has some buildup on a few teeth which is fairly new. Kids with Ohdo have a lot of teeth problems. Hopefully I can get him back in the dentist and soon, so they can assure me I'm just paranoid.

Surgery Sealed with a Kiss

This morning Spencer had his ENT followup...also known as the Snot Doc. For those who don't follow our medical lives too closely, we have more than doctor for each part of his body. We have three ear doctors...an ENT, an otologist, and an audiologist, aka, Snot Doc, Fancy Eye Doc, and Dr Tommy. Anyhow, the last time we went to see Dr Tommy, he told us that Spencer's ear tubes were going out. We followed up with Snot Doc a month ago, who confirmed his ear tubes had bit the dust, and said he had fluid in his ears. She wanted to see us back in a month to make sure he still needed more tubes, since that's the protocol. Keep in mind my child had a submucosal cleft palate, which will cause him sinus and ear issues until the end of time, but whatever...we drove six hours today to humor her. Since the kid has had three ear infections in the past 4 weeks, we knew we were getting new ear tubes added onto his testical surgery next month. She even though our peds idea of permanent ear tubes was a good one. She also added that she wanted to do a superior anoedictomy (I'm butchering the spelling and I'm too lazy to google it). Basically he's having a small portion of his aneoids removed to help him breathe better and it should help his apnea. We have to keep his tonsils and the rest of his aneoids because he has a split uvula (the thingie that hangs down in the back of your throat), because of his cleft palate. While I think his uvula is an awesome addition to his anamolies he's going to show off at a drunken frat party in college, it's pretty useless otherwise. This additional surgery shouldn't cause any pain but it means he'll be in the hospital over night. He is also getting a repeat ABR done while he is under....for those who don't speak deaf, it's a hearing test. Spencer and Jimmy are both sick, which is kind of miserable, but at least I got to call into work and spend some quality time with little man. While waiting for the doctor to come in, I grabbed Spencer out of his stroller because he was getting antsy. He kind of wrapped his arms around my neck and gave me a kiss on the cheek...the first time he's done it unprompted. Either that or he snotted me enough for me to think it was a kiss...either way, I'm considering it an offering of gratitude. I asked him if he kissed me and then he licked my face. I think he's just sharing his germs to bring me down. He's already brought down the jimmy, now the mighty has to fall.

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!