Ghosts

     When Spencer was in the NICU, I coped quite well.  I had a hard time right after he was born, which is expected I suppose.  I didn't want him to suffer...to live a life where he would be mocked and made to feel less valuable in a society where people with disabilities aren't seen as humans by the so-called norm of society.  Back then, I didn't know the gifts that he would bring to the world.  It took me a good two weeks to stop putting on a brave face and to take things head on. 
     Jimmy slowly retreated in himself.  It happens.  He still can't explain how he felt or why, but he was the poster child of someone suffering from severe post traumatic stress disorder.  It's no secret that we separated for a while, mainly because how each of us handled Spencer's birth.  To me, he became someone else entirely.  To him, my need to feel in control consumed our lives and obliterated his freedoms. 
     While the NICU days creep up and haunt me every once in a while, I've handled it all pretty well.  I've never felt consumed by it, until now.  I'm going to have another baby in 9 weeks, and I'm currently consumed in the thoughts that I've now given her birth defects because I used goo off on the kitchen floor liberally, or I was in the house while Jimmy was polyurethaning the floors or using mineral spirits.  I'm so anxious and worried that I've done something to her.  I'm fairly intelligent...I realize that the level of exposure I've had contains very small risks.  When I have done anything in the house, or even when Jimmy has, I've been well ventilated and haven't felt the effects of any fumes.  Even the OBGYN tells me I'm fine.  This all started when I had to wipe my hands off with paint thinner because I couldn't get something oil based off them.  Dumb, I know, but it didn't occur to me as dangerous until I still smelt it on my hands after washing them with soap. 
     It's all I've thought about all day.  It's not even the thought of having another child with Special Needs that bothers me...we can handle that.  It's me doing something that could cause her to have problems.  I can't shake this, and I'm worried the anxiety is going to keep on getting worse and worse. 

Hoho

     Santa came!  Well, that's what Spencer thinks....we think.  I've been talking up Santa and Christmas to him for a while now. We sat on Santa's lap, asked him for a Ipad and a Little People Carnival Train.  I got the customary wake up from the youngest nephew (he was quite excited this morning), and told Spencer it was time to wake up because Santa came.  Spencer was pretty much up right away and ready to go.  He eyed the Christmas tree as we waited for everyone to get up and watched Killian try to break into presents. 

    Jimmy and I vowed that Spencer would open the majority of his presents by himself this year.  I had to help him a bit and redirect him a few times, but he was totally into opening his presents.  He was so excited about the Carnival Train.  All the clothes he got was in bags.  He let me remove the tissue paper (I guess he didn't like how it felt), and looked inside.  Once he confirmed they were clothes, he immediately lost interest and went back to his toys.  He made out fairly well this year and had a great morning.

     On the downside, everyone is starting to feel lousy.  It started with my niece and now my newphew and FIL are coughing.  Hopefully it skips us!  

Eating!!

Spencer is self feeding!  Jimmy said he took a Teddy Graham out of his hand this morning and put it in his mouth.  He just ate a bunch of them on the couch.  He also ate a veggie "Cheeto."  I burst into tears.  I'm so incredibly proud of him.

27

    So here's the hospital stay post.  Many of you followed my cryptic messages on Facebook, but everyone may have not gotten the whole story.  Anyhow...

Day 1:  Day of surgery.  Spencer was super crabby that morning as the night before he didn't want to sleep.  We stayed in a hotel room which tripped him out.  He probably slept two or three hours.  We also found out that the operating room Spencer was going in didn't have an induction room.  For those who aren't frequent fliers in the surgical department, basically an induction room is where they put gas on the kid's face and knock them out, then take them into the actual operating room.  I've put my foot down when this has happened before.  Spencer knows the system and would flip the fuck out if we handed him to a surgeon and walked away.  With Spencer's complex airway history, many docs feel uncomfortable putting him under in the induction room across the hall.  This time we thought to ask about the induction room well before hand, so we agreed since he was pretty tired anyhow, that we would try some Versed with him to see if we could get him to sleep before we passed him off.  Spencer was high as a kite when we passed him off to the surgeons, and didn't even realize we had left.
     Surgery went fairly smooth.  We were told it would take four and a half hours, which would be Spencer's longest surgery to date which made us incredibly nervous.  Dr. Mangano was done in about two hours.  He said he the spinal cord presented itself as tethered.  He also informed us we'd be hospitalized another day, something we weren't expecting, because he counts surgery day as day zero (who does that??!!!).
    Spencer was sent up to the ICU after surgery, which is typical.  We were also informed we would likely be there for the entire stay, another thing we weren't expecting.  That night Spencer had one hell of a pain episode.  He tried to get up several times and went into tachycardia a few times.  Jimmy and I took turns holding him down, while the nurse kept frantically trying to get the doctors to prescribe something to ease his pain.  I guess the docs didn't believe all of us that he could be trashing around so much even though he had enough pain medicine in him to take an adult down.  I finally got fed up after 3 hours and told Jimmy to tell her to get the pain management doc and the resident in the room.  After that his pain was better managed.  At some point, Spencer stopped breathing.  I was watching the monitor and saw his respiratory rate go to 0 and his oxygen level quickly fall.  The nurse was running in as Jimmy was opening the door to get her.  In the meantime, I was shaking Spencer to get him to wake up.  The nurse put the O2 mask over his face and he quickly picked his stats back up.
      I have to mention, even though we told everyone to avoid it, Spencer ended up with an IV in his damned clubbed foot.  I threw a fit, but realized since he is such a hard stick we'd leave it for the night and asked for an ortho consult in the morning.

Day 2:  Pain was still an issue every three hours or so.  We were still struggling to find a good mix of meds that wouldn't kill Spencer.  Fentanyl was like water to him.  The resident ordered a metabolic panel, and discovered that Spencer has a very high metabolism which is likely why the meds go right through him.  He stopped breathing again, long enough for the nurse to say code blue but not have to page it, thankfully.   I felt so helpless when he cried because I couldn't pick him up since he had to lie flat. 

Day 3:  More of the same.  He slept a lot that day if I remember correctly.  Pain was being better managed and we only had one significant episode of pain with tachycardia.  At some point on this day I decided his gtube was super loose and tried to check the water level in the balloon. Couldn't get any water in or out of the valve.  Told them

Day 4:  Mangano decided we could get him out of bed, finally.  I got to snuggle with him.  Spencer was still pretty sore, but was wanting to be held a lot.  His Uncle Jerry came by and we went down to the gift shop to get him a giant Elmo balloon, which he was afraid of.  In Spencer's defense, it was pretty creepy. 

Day 5:  Got transferred out of ICU and onto the Neurology floor.  Spencer slept a lot but played a bit too.  He was sitting up a lot that day.

Day 6:  Was told pretty early that we were likely going home.  We were packed and ready to go by 1.  Didn't see Mangano until

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.

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!

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:)

Tuckered out.

A tired Spencer is a sick Spencer I've learned. He was really tired last week for a few days in a few. Then a few nights ago Spencer had the poops and the pukes. During the night he started coughing and by the next morning he looked really bad and was nearly lethargic. I took him to his peds, but was reassured he was ok, just a little cold, but could potentially have RSV. The doc told me he wasn't really at a risk for getting super sick...hahahahahaha. The next night he spiked a fever and we went to the ER. His chest Xray looked fine and they sent us on our way. Sunday night he had a raging ear infection. His oxygen levels sucked that night and his cough was worse. Monday morning I took him to the ER again becaus ehe was even worse and they ambulanced him to another hospital. Spencer has phnemoia (fuck it, I can't spell it) and RSV.
We just finished spending three days int he hospital and I'm tuckered out. Little man is doing so much better. Initially we were going to be admitted to the PICU, but they were out of room. We played fifty questions with a dozen doctors, had a bazillion students visit us, and sent our only two roommates the the PICU while Spencer got better. I'm convinced Spencer had a part of that. They made our room private after roommate number two, luckily.

His gait trainer finally came today! I'm so excited! We've been waiting for it since sept or nov. Now to figure out how to use it....

Adventures in Potty Training, but not really.

Spencer is getting tested for Ohdo Syndrome next Tuesday. It's bitter sweet. I'm excited and nervous. It would be nice to confirm he does have it, but we are living in a state of where ignorance is bliss. They are doing the testing in the lab at Cincinnati Children's. Doctor Hopkin convinced his buddies in the lab to test some new powerful equipment by using Spencer's blood. Otherwise, our only other option was to send it to England and pay out of pocket. While the blood test may confirm that Spencer has Ohdo, it also may come back negative (but mean he still has it) or inconclusive. Either way, it's a start!

Recently I've been thinking a lot about potty training. While I realize Spencer isn't really ready yet, I figured we would give it a shot. I almost have him sitting on the potty. I have decided to switch him to pull-ups, mainly because he's a big boy now. We always told ourselves that we would never treat Spencer any differently because of his disabilities, and if he was a normie he would be wearing pull ups now. Spencer is very excited about the concept of wearing big boy pants:) One mom managed to get her non-verbal non-walking kiddo to become potty trained, so who knows! We're still going to do diapers later in the evening and at night. As soon as we can convince him to sit on the potty, which he did at the store and now he won't (of course), we're going to keep him on a loose schedule. The kid has been on a 3 hour schedule his whole life, so maybe it will work, who knows!

Feeding Tube Awareness Week: Day Six

Topic - What do you want clinicians to know about the day-to-day life with a feeding tube?

That I know what I'm doing. I'm more educated on feeding tubes than our surgery doctor who manages our g-tube care (she even says as much). The only time I'm going to call the doc is when there is a clog I can't get undone or we need to go up in size. So when I do call, it's important. I'm also here as a lifeline for other parents who are knew at the whole tubie thing and have no clue what they are doing.

I also think it should be mandatory for all hospitals to teach parents how to change a gtube before they leave the hospital after surgery. Our surgery doc was AMAZED that we change his tube ourselves.

Feeding Tube Awareness Week: Day Five

Topic: The need for greater awareness in the medical community - Explain a situation where a clinician didn't understand tube feeding and what was the impact.

We have been very fortunate to have a couple really amazing hospitals who actually know what a feeding tube is. At our Children's hospital tube feeding is a pretty regular thing. We've only had to go to the ER a couple times since the move, so we haven't really had too many problems. We usually get more grief over doing a blended diet.

Spencer does a blended diet because it's better for him than formula and he tolerates it well. In the tube feeding community, blended diet is not the norm. Our biggest crisis we've had with tube feeding naturally involves the tube and his special diet. Spencer had to stay overnight in the hospital for his cleft palate repair. I called in advance to make sure his diet could be accomidated. I was assured by two different groups of people that it wouldn't be a problem.
After the surgery we were taken to our room. I had made it very clear and had them tell the floor charge nurse that we had a special diet. When I requested food later that night all hell broke loose. They didn't have any pre-made blends that could be sent up from the formula room like the told me. I basically got purees from the cafeteria and had to blend it myself with no blender nor even a bowl. I had to get them to give me Elecare and mixed parts of the puree with it. I was super crazy pissed.

Another instance where blended diet nor tube feeding has really been understood is at our WIC office. We left an amazing WIC office back home. Yeah you had to wait a million hours, but the staff knew Spencer and knew I knew what I was doing. We come here and the nurse barely even knew what a feeding tube was, let alone the blended diet aspect. I had one nurse practically shove Elecare down my throat. It wasn't until I told her that formula is full of awful crap for kids and we don't need it that she shut up about it. If my kid can survive on food that his dad and I can eat, then I am adamantly against giving him formula. I know some kids need it to survive, Spencer is fortunately not one of those kids.

Feeding Tube Awareness Week: Day Four

Topic - How has your attitude/family/friends' attitudes changed towards tube feeding? What has awareness of the positive benefits done to change perceptions?

When you have a kid with special needs, you find out who your fair weather friends are. We have had several friendships waver off, and we've had several that have become stronger or didn't change at all. I have friends who don't ask questions and I have friends who ask tons of questions. I have also gained many, many friends through babycenter and facebook. Some of these people I consider my closest friends, even though most of them I haven't met in real life.

I reconnected with my father shortly before Spencer was born. Since then I also have become quite close to my step mother and my aunt, all of which live across the country. My aunt is a nurse who has fostered or adopted several children with various special needs. I know at one point and time she had 4 tubies. She has been a great source of advice and a great person to share tubie humor with. My parents, referring to my dad and step mother, have been so supportive, even though they have yet to meet Spencer. The point to stress here is, and keep things pertaining to awareness week, is that they don't see the tube. They see am amazing kid, not Spencer's genetic disorder.

Most of you know we moved three hours from home last September to be closer to my in-laws. My mother in law jumped right in to tube feeding and never looked back. I force FTA gear on her all the time and she loves it. While both of my parents in law have never treated Spencer any differently, my father in law has been quite hesitant about the feeding tube. We assure him that he won't break Spencer, but he is still cautious, which is understandable. My sister in law is starting to learn a lot more about feeding tubes and is learning how to feed Spencer. My brother in law, who doesn't really even touch small children in fear of breaking them, has even done a tube feeding.

The most constant question we get at family reunions is, "how's he doing?" Everyone in the extended family knows about Spencer and his tubie. I believe a lot of it is how we approach the topic. We have always talked about Spencer and his medical issues positively. We don't make a big deal out of his delays nor his feeding tube, and it really rubs off on the family (and the general public too). In our family, his tube isn't a big deal. They see him grow and thrive because of all our hard work and especially his tubie!

And us. How do I explain how awareness has helped my husband and I? I was fortunate to have a great team at the hospital. I'm also addicted to google. Anyhow, after we found out Spencer needed a feeding tube, we became experts. That's how I found the group on Babycenter and in turn found FTA. The hardest part about having a child with special needs was feeling alone. Facebook has given me a sense of community and we're not in it alone. My husband I are no longer the ones becoming aware. We are spreading awareness. We are now the person that people who are looking for help find. We educate and promote.

My kid has a feeding tube and he's doing awesome. Anyone can see that.

(I must also mention that last year we went rogue. We started doing a diet of blended foods through his tube. Luckily we had our medical team on our side. I would have never learned about BD without some also parents who also do it:)

Feeding Tube Awareness Week: Day Three

Topic - Understanding Life with a Feeding Tube - Explaining a day in the life/daily routine of tube feeding and all it requires

We feed Spencer a blended diet. Every night a make him a blend usually consisting of around 5 oz of meat, 2 c soy milk, 1 6 oz container of soy yogurt, 2 oz almonds, 1 avocado, 2 tbsp olive oil, 1 c fruit, 1.5 c of veggies and whatever else I need to make up 1700 calories a day.

Spencer gets his first feed at 9am. I hand bolus his feeds in, meaning I take a 60ml syringe and attach his feeding tube extension in and push the food in his stomach. I then give him at least an ounce of water after. He eats again at noon, 3, 6, 9, and midnight.

Spence does eat orally, so we give him snacks throughout the day.

Compared to most parents our tube feeding schedule is pretty simple. Aside from wiping off his tubie everyday or cleaning it during a bath, it doesn't require a lot of care. What really makes our life complicated are all the non-tubie related stuff we do everyday!

Feeding Tube Awareness Week: Day Two

Topic: Why I have/my child has the tube they have now - a highlight on the medical conditions that require tube feeding.

Spencer has always had a feeding tube. He started with an NG tube, a tube that went through his nose and to his stomach, when he was a day old. He had his gtube tube placed when he was a month and a day old.

Spencer has a feeding tube because he never mastered eating. Along with his suspect genetic diagnosis, SBBYS Ohdo Syndrome, he also has something called Pierre Robin Sequence (PRS). Long story short, PRS caused Spencer's jaw to stop growing at some point and caused a host of issues. He has micrograthia, otherwise known as a small jaw, cleft palate, larygamalacia, tracheamalacia, and broncheamalacia, all are abnormalities of different parts of his airway system, some stenosis (narrowing of the airway, and cranio facial muscle weakness. He never figured out how to suck, breathe, and swallow at the same time because of these issues. He took from a special bottle pretty early on, but never more than 30mls a feed (an ounce). His wicked reflux didn't help any.
We had a discussion with his feeding therapist pretty early on in the NICU, after it was clear Spencer was struggling to make progress. She said we could keep the NG, in hopes he would figure it out, or get a gtube put in surgically for the long term. Our guts (mine and Jimmy's) told us it was going to be a long road and we decided on the Gtube. This has been the best medical decision we have ever made as Spencer promptly stopped taking the bottle as soon as he came home from the hospital.
At 6 months Spence started eating solids and then winter hit. He became a snot machine. The increased mucous made it nearly impossible for him to tell there was anything in his mouth, so he stopped eating. He never ate a lot, but it kind of broke my heart when he stopped all together. We never gave up, but didn't stress him out over it.

A few months after his first birthday, I started doing a blended foods diet with Spence...essentially I put foods in a blended and feed it through his feeding tube. He stopped puking. A few months after that he started letting me put food back into his mouth. Studies have shown that kids who do a blended diet are more likely to start eating orally. Spencer still struggles with eating, but he does eat! His most recent diagnosis of sensory integration disorder is also a huge barrier in his eating, but the more progress he makes the better his eating gets.

Feeding Tube Awareness Week: Day One

Topic: Why awareness is important to my family - What would be difference for me/my child if tube feeding was better understood?

One time I took Spencer to the Aquarium and a friend and I sat down with our children to eat lunch. Spencer needed to eat, so naturally I fed my child. I pulled up his shirt and hooked him up to his bolus and did our thing. I was vaguely aware of the lady sitting at the table next to us staring at us. After his feed, my friend said, "That lady was staring at you the whole time...rude ass people. I don't know how you do it."
The problem is we're used to it. Every time I feed my child a full meal in public we get stared at. If tube feeding was better understood, I could feed my child in public like any other mother would, breast or bottle. Some day, Spencer will notice the stares and that bothers me. Eating, no matter how it happens whether it's by tube, bottle, iv, or breast, shouldn't be a sideshow. It's how my kid survives.

Gah, appointments

Appointment filled day. First we had our high risk clinic appointment where I finally got to meet nurse Debbie. She says, "You probably don't remember me..." I say, "Of course I remember you! I wrote an article for Complex Child E Magazine and you were in it!" I was pretty excited.
The visit itself was pretty productive. Spencer is up to about 25th percentile for height and weight and 85th for head size. We were referred to a behavioral peds to help Spencer deal with his sensory issues. We also talked about getting Spencer some AFOs and we have a referral out to their PT to make them.
Genetic clinic was kind of depressing. Dr Hopkin didn't mean to, but he kind of crushed some of the hope we have that Spencer will be a normal kid someday, as far as our spawn can be normal. We also found out that they are trying to figure out how to get Spencer tested for Ohdo. Money seems to be the issue at the moment, but they are working out a plan.

Ramble.

So the oxygen equipment and supplies came in the other day. Naturally, Spencer threw a shit fit over me even trying to put the cannula on his face. He would hide his little face and cry if I even lifted it, breaking my heart. So I decided it wasn't worth the stress for both of us and emailed his doc. Spencer may have won the battle, but I shall win the war. Anyhow, we have orders in for Spencer to do blow by oxygen, which I'll probably have to wake up a million times a night to readjust...either that or duct tape it to his pajamas. Either way, it's a hell of a lot less anxiety for my SPD kid so it works for me.
Today he was having giggle fits. He was going nuts over everything earlier. He was dancing and doddle-bopping and everything. I guess he was pretty excited to be left at home while Jimmy and I went on a date. Yes, a date. With no child. We've only been on two or three dates since Spencer was born, mainly because of lack of a baby sitter. We had a giant steaks at Texas Roadhouse and wandered around Walmart for a while...what else can you do in Ashland, Kentucky?
I've come to the sad realization that we need another medical cabinet. With all the extra oxygen supplies, we have no more room. We are also out of room in our small bedroom we are living in while finishing the house, so putting in another cabinet really isn't an option. I'm still trying to figure out what to do with his supplies once we finish the house. Do I let it take over his closet or do we keep doing the cabinet system? There is also the delicate art of not letting it take over his room and making it look like a hospital.

The Penis Chronicles Revisited.

Spencer's bazillionth surgery was today. Seriously, I've lost count. Anyhow, he had a scope, one testicle lowered and a revision on his circumcision. The testicle they lowered was near his kidney. It isn't very reassuring when your renown urologist assures you your kid has some of the most screwed up anatomy he has ever seen and that he had to do a procedure that he only has to do once or twice a year. That's our boy! Keep in mind his eye doc said the same thing about his tear ducts. Anyhow, Spencer is doing great and is currently playing. He is managing the pain well. His penis actually looks like a penis for a change. Bad news is that the doctor still couldn't get his testicle completely down and he has some creepy ass hole thing where his scrotum once was.
We were also told that based on the condition of his testicles that he probably won't be able to have children. News of this kind of devestates me. We always figured he would want to adopt rather than have biological children because of the risks of passing on his genetic condition. It still sucks to be told that he might not even get to choose.
I don't think I mentioned that little man has to go back on 02 at night. This should be fun with our kid with sensory issues. I spoke to his pulmunologist and we agree that if he flips out too much we'll try other options. I really don't want to recreate the defensiveness from being on oxygen the first time. We were expecting to be told that he was done with oxygen at night for good, but alas it's not the case:(