Going in.

Today was Spencer's Neurosurgery followup.  Doc and I both agree that we need to go in surgically.  While Spencer's tether was non confirmed on MRI, there were several other abnormalities pointing towards it and it was confirmed by his urology study.  Surgery will be in early November.  He will be inpatient for five days, three of which he will have to stay laying down....that should be fun with a two and a half year old. 

We went to the zoo after his appointment.  He really liked these horse rhino things.  He also checked out the penguins, flamingos, and rode the carousel.  He was unsure of what to think about it, but didn't cry.  We were going to ride the train, but it was down for the day since they just replaced the engine yesterday.  We did get to watch it go by a couple of times which he loved. 

My monthly checkup for Spawn 2 was yesterday.   It was uneventful, which is good.  Just a month to go until the big scan!

The joys of Ohdo

Today was Spencer's first Behavioral Peds appointment.  While they will be quite helpful in planning for school and Spencer's IEP and 504 plans, it was still kind of a downer.  Spencer took a while to warm up to them, but went wild once they brought out the fun toys.  They are mainly concerned about his communicative skills.  He tested today on a 10 month old level for expressive language, and 12 month old for receptive.  I told them I believed that his receptive skills are way better than that.  While he is improving, it still sucks to hear all the stuff your child isn't doing.  They also agree that the best way to go is offering Spencer different means to communicate and see what he takes to best...this also means we need to get an Ipad. 
As far as his IEP goes, they agree with me that he needs a full-time aide at school.  They think he will need the individualized attention that an aide can offer, as well as the protection.  They agree it should only be a nurse if he requires cathing at school. 

We went from a bummer appointment to a great genetics appointment.  Doctor Hopkin is amazed with the amount of progress he has made.  He agrees with DDBP's ideas for Spencer's IEP including a whole language approach for his speech development.  He says we know Spencer is going to have physical limitations, at least for the first part of school, as well as communicative.  He also says we also know that he might have some cognitive delays.  He remains optimistic about Spencer's future and doesn't want to set any limitations on Spencer's abilities.  We have a general idea of what Ohdo is going to mean for Spencer, but we have been "plugged in" to the right services since the beginning and work with him a great deal.  He also agrees that Spencer will grow up to be a cranky old man, which is reassuring.  He does want the heart problem fixed sooner rather than later, and I agree with that as well.

I asked about the potential of Spencer having another syndrome.  Hopkin thinks that Spencer's spine issues as well as the bladder are just rare symptoms of Ohdo, which is actually comforting, especially with me being pregnant again.

Spencer has apparently been quite popular in the genetics department.  Doc told us when he first suspected Spencer of having Ohdo Syndrome, he told his peers who asked him what it was (yeah, it's that rare).  Then they said, "No way."  Then he showed Spencer's picture compared to the pictures of kids from a study, and they said, "Maybe."  Apparently everyone was floored when he was actually diagnosed with it.  Doc seemed pretty happy with the diagnosis and I suspect he got a lot of nerdy genetic street cred when the results came back.  Spence was also introduced to a medical student today.  I heard Hopkin give her the rundown of Ohdo and mention she'll probably never see another kid with it.  It's kind of strange, but it's kind of cool at times to have a kid with such a rare disorder.  Sometimes it's annoying and sometimes isolating, but it feels good to educate and maybe help another undiagnosed kid that may just have it and the doc can say, "I've seen this before."  The thing with the Say-Barber-Biesecker-Young-Simpson type of Ohdo, is that all of our kids look nearly identical. 

Processing

Today was Spencer Echo.  It took two doses of meds to get him asleep for it, which made it take forever to wake up.  the medicine also made him super irritable.  And I was stuck three hours from home with a cranky two year old.  We stopped by the brace shop before his last appointment of the day.  He insisted on getting down and crawling, but could hardly crawl and kept running into stuff.  I got the stink eye from every parent and old lady in the waiting room. 

Anyhow...the Echo results were not great.  His inflamation on the right side of his heart has increased.  His PFO is no longer just a harmless PFO, it's a full blown ugly ASD.  He either has one huge hole in his heart or several small ones close together.  The cardiologist doesn't remain confident that he would be able to do a cath repair.  We are having an "ongoing conversation" on open heart surgery.  This scares the hell out of me.  It's minor as far as open heart surgery goes, but still.  He will also have an epic scar from it.  We are likely going to start scheduling different tests when we go back in three months.  Yup, my kid went from a once a year followup kid, to a full blown cadio kid. 

On the plus side, being on supplemental oxygen may actually make his ASD worse.  Cardio wants to keep him off it if possible.  We'll see what Pulmonary says and will likely have to do a repeat sleep study.  Have I mentioned how much I hate sleep studies?  I would rather have them cut off my hand than him have to have another one.  It's a nightmare for a sensory kid. 

I'm having a hard time processing everything.  One of the cardiologists made sure I wasn't doing the panic...and I wasn't until I talked to the actual cardiologist.  He didn't sugar coat things very well.  Normally I like straight to the point, incredibly poor bedside manner docs.  I was completely floored by this appointment and needed all the sugar I could get.  I expected to go in getting told his hole was getting smaller and everything was going great...come back in a year.  Spencer's heart defects have always been the last thing on our minds...now it's bumped up to the top of the list.  We'll see how things go.  Surgery is no longer an if, it's a when.

Spawn

     So I'm pregnant again.  We're pretty happy about it, but naturally nervous.  Lightening doesn't strike twice, does it?  It's kind of a whole big bag of emotions.  We didn't think we would have more children.  I've always wanted more, but we didn't want to risk having another child with Ohdo Syndrome and have it go through everything that Spencer has.  We became a little more open to the idea when Ohdo became Spencer's clinical diagnosis.  I was completely on board when they found the gene in November and that it was a de novo syndrome, meaning non-inherited.  We know now that Spencer genetically has Say Barber Biesecker Young Simpson Ohdo Syndrome.  We know that for a fact and that the chances of another kid having it are less than 1%.  But still....we're nervous.

     I worry that this child could have another one of Spencer's genetic conditions.  Of course I didn't think of any of this until after we found out Spawn 2 was on the way.  Spencer has Pierre Robin Sequence, which is likely just related to his Ohdo Syndrome (but could be caused by a mutation elsewhere), but he also has a few issues that aren't explained by his diagnosis.  His urologists suggests there may be another genetic condition floating around in him. 

     Tomorrow is the ultrasound to see how far along I really am and to make sure the kid has all it's parts.  I'm more eager for the anatomy scan, as now we know what to look for.  We will love this child any way it goes, but typical would be nice for a change.

     On Spencer's end, he's doing amazing.  He decided he wants to start eating like a champ.  We've been slowly trying to work some dairy into his diet, which seems to be going well.  He loves white cheddar puff corn.  He figured out the sign for more recently and actually signed for "more" cheese corn the other day.  We shared some marshmallows earlier.  He constantly has food all over him, which is nice to see.  

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.