Checkin' off the list

Dillon had ANOTHER appointment in Kansas City yesterday.  Two appointments, actually.  We had a follow up with urology that was quick and positive and we won't need to see them again.  Then we had our follow up with genetics.  Dillon saw genetics in the NICU.  Any child born with a syndrome or birth defect sees genetics.  It's awful. Lovely people, but at the time I would have kicked and hit them until they left if I'd had the energy.  I sobbed the entire time they were bedside and wanted to vomit at the kinds of questions they had to ask.  I was already dealing with a scary diagnosis and I didn't want them looking for more problems.  And trust me, the problems they were looking for made PHP look like a common cold.  Fast forward to 13 months later and factor in all the research and learning I've done since the NICU, and I was so looking forward to this appointment.  Parents of kids with PHP are desperate for more information but unfortunately, it just isn't there.  I wish I'd thought to record the appointment because Dillon was pretty much done sitting still so I could only listen with my ears.  My eyes were on wiggle worm.  That said, here's what I learned.

Because we're not having any more children, there's no real need for Brian and I to find out if we are some kind of carriers of PHP or if something in me when combined with something in Brian produced a kid with PHP once.  If we were going to have another child and we could determine that it was genetic, then our chance of having another PHP baby could be as much as 25%.  Or less.  So. Many.  Unknowns.  Their recommendation is to wait 20 years until our boys are ready to start thinking about having their own kids.  Then they should go to a genetic counselor and explain their family situation and see what kind of advances have been made. It's exciting to imagine how things will progress.  I asked about my siblings and if they had any increased risk of having a child with PHP.  The doctors said that if we keep with the theory that Dillon's PHP is genetic, the only way they'd have an increased risk is if my siblings married someone that was related to Brian.

Then there's the thinking that this wasn't a genetic issue.  That it just happened.  In that case, there's no increased risk for anyone.

I asked about research studies and if they thought there would be an increase as the number of kids born with PHP rises.  Here's the challenge.  Our PHP kids are so unique, even among each other.  Some kids, like Dillon, "just" have PHP.  Dillon specifically has an absent anterior pituitary gland and an ectopic posterior pit gland.  To include him in a study, they would need to find another 99 (or whatever number) kids who present just like him.  Some PHP kids have vision disorders, some have midline disorders, some have diabetes insipidus, or other issues.  And because there are not many known people with PHP above the age of 35, there hasn't been a lot of time to conduct studies.  Or enough like patients to study.

One funny moment happened when the doctor said, "It looks like Dillon doesn't like to have his head measured.  His head measurements are so inconsistent which we assume is because the baby is a squirmer.  Some of his measurements put him in the 50% and some put him in the 95%.  I assured him, to his surprise, that the 95% was correct and that everyone had been concerned and that a head ultrasound had been performed and was fine but that my kids have huge heads because they come from big heads and those heads come from big heads.  I had to prove it.  He asked if he could measure my head (scientists and their statistics and proof!).  He measured it and immediately said, "You're right.  It's big.  I don't know the exact numbers for adults but when we get to the end of the measuring tape, it's a big head."

They were wonderful doctors.  They were so genuinely happy to see Dillon doing so well.  They don't look at him like a science project which is what I was afraid of in the NICU.  At one point Dillon got really squirmy so the doctor gave him a paper tape measure to play with.  Dillon immediately tried to put it around his head.  It's rather sad that this is Dillon's normal but we all agreed that it was a really smart behavior!  They are impressed with his length (50%) and his looooong fingers and toes.  They would also like to see him gain weight.  Join the club.  He's just barely on the chart and then there's worry that if he gets sick there are no reserves.  They said his fine motor skills are excellent and that he is doing just great.  And then they said that won't need to see us again.  Ever.

So - cross these departments off the list: urology, genetics, pediatric ophthalmology, radiology, or cardiology.  Further eye checks can be done in Manhattan as well as ENT.  The only Children's Mercy doctors we'll continue to see are endocrinologists.  And I suspect eventually allergists.

We stopped up at the NICU between appointments as we won't have appointments in that hospital anymore.  And God willing, my kids will never be admitted there again.  We got to see our nurse practitioner, Karen, who was responsible for suggesting the brain MRI that lead to Dillon's early diagnosis.  She was so happy to see how well he was going and was so thrilled to see him walk.  Karen is great.  She is as sharp as a tack, considerate but tells it like it is, would sit down and gab a little with me, queen of fantastic accessories, and took the time to call me after I'd gone to the condo while Dillon was in the NICU to let me know his microarray had come back looking great.  I'd never gotten to say goodbye to her so I was happy to see her.  I left the hospital yesterday feeling like that door had closed.  We were done with all the follow-ups and NICU visits to say hi to nurses.  I will be grateful to them forever but it's time to move on.  And that is absolutely what they want families to do.
                                                    Karen and Dillon

Dillon is having a blast learning to walk.  He is screaming less this week and trying to communicate more with sounds and gestures.  It is so fun to watch him every day.  That year from one to two is a tough one but they learn SO much.  I find that while his diagnosis is always in my mind, I watch him more as a "normal" toddler now.  It's fun and such a relief.  Now if someone could tell my neck and shoulders to relax a little.....