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6.23.17 Process of Elimination

Poop is what it is all about lately. At least, that is how it feels around here. Yesterday we met with the GI specialist and Nutritionist. The short of it is that elimination is not going well. It seems that there has been a decrease in Aimee's neurological function in this area. The amount of times that we are needing to use a catheter for urine output is dramatically increasing as the success rate of enimas is going down. This is causing more infections and making it really challenging to leave the house. The specialist is recommending that we attempt a Cecostomy. This is both for Aimee's quality of life and in an attempt to not make her daily care decisions completely reliant on my knowledge of Aimee. Basically, in case something happened to me, Aimee's care would be more straight forward in this area. This surgery will be creating an opening into the top of the bowel and placing a tube for administering enemies from above. Initially the doctor decided that we should move ahead with a surgery that would disconnect the bowel and use a colostomy bag. After some discussion, we decided that it would be wise to try the Cecostomy (c-tube) before that more drastic course of action. However, the doctor is not certain that this will be a success in Aimee's case and, if it is a success, how long it will work for her.

The GI specialist is hoping to have this surgery done as soon as we can. However, we have to coordinate some appts over the next several weeks to meet with the GI Surgeon, the Reconstructive Pelvic Medicine team, Aimee's Urologist, and the Anesthesia team. There is a possibility that her Urologist may want to add another procedure on to this surgery to allow us to drain urine through a catheter in her belly button. There is also a possibility that the surgery may be more complicated by the scoliosis status.
Celebrating Elliot's 4th birthday

On Wednesday we met with Aimee's Sleep Pulmonologist. Aimee is doing well with the increase in sedative for sleeping. We did find out that the Neurodevelopmental doctor had written the prescription for "by mouth", which meant that we received really challenging little pills that have already broken 3 pill grinders (they usually last us 9 months or so). Thankfully the children's pharmacy will compound this medication for us to allow it to go through a g-tube and make that little headache go away. The doctor is still concerned with the condition of Aimee's nose and continues to look for other options that will work with her tiny nostrils and tiny head without touching the bridge of the nose. She also noted that we are well past due for a titration study to check that Aimee's current overnight oxygen and bipap pressure levels are sufficient. They were able to find a spot for Aimee really quickly, so we will have that done July 3-4.  It seems like most of Aimee's doctors don't like to wait around in her case for normal scheduling times.
Tuning out the PT at the previous appt.

Aimee had another PT appointment at Providence on Wednesday and did really well. In the previous appointment, I requested that no more positions/exercises be done with Aimee that do not allow her a resting spot for her head. She gets really freaked out and scared when, for example, she is over the edge of a wedge with no support. I can't blame her for that. Her head is a heavy weight for her. If you were to hand me something really too heavy for me and I had no clue how I would set it down or idea how long I would have to hold it...I'd freak out too. Aimee particularly enjoyed rolling down a long wedge during this week's session. Clearly she is a thrill seeker. :)

Last week, Ed and I met with a UW Genetic Counselor. We had an ultrasound and discussed what genetic testing is available. Unfortunately, it will be a few more years before they can test the maternal blood for just any genetic disorder, which means we would have to do an amnio to find out prior to birth. We are not willing to take this risk (1 in 400 chance of miscarriage with an amnio currently). Instead, the midwife will be able to pull blood from the umbilical cord after delivery and send that to the lab to look specifically for KCNQ2. We won't know as soon as we had hoped, but it will allow us to find out risk free as soon as possible.

Otherwise, the ultrasound showed a very healthy little baby BOY! I sure do like have brothers and sons around me throughout my life. :) Caleb is suggesting names as often as he can. Little Couscous (the current favorite on Caleb's name list) is very active and we are looking forward to knowing him better.

6.7.17 Update

The past 2 months of silence here do not indicate a period with no events, rather one where I was too challenged to give you updates. Now that I am feeling well again, here is the reason for my silence, we are anticipating a family addition in early November.
With our previous pregnancies, we did not yet have an underlying diagnosis for Aimee. This time around we know and actually have the ability to test for this particular gene. Although both of our blood was tested showing that we were not carriers of KCNQ2, there is still a possibility of a mosaicism in one of us (where some of our cells carry a different set/arrangement of chromosomes than the rest of our cells). We have decided to meet with a genetic counselor so that if this little one has KCNQ2, both us and the hospital can be prepared for major seizure response in the first couple days of life. If the baby does not have this gene alteration, we can relax our seizure watch. We will be meeting with this counselor early next week to discuss the testing. At this point we do not know if the test is a big blood panel or if it is an invasive test, which would cause us to reconsider our decision. As a part of this meeting, we will also have our 20 week anatomy ultrasound and see this sweetheart for the first time. 

In Aimee's life things have not been quiet either. Over this past couple of months the biggest difficulty has been with allergies. This year is challenging in our area, because of the delayed Spring, causing so many pollens and grasses to be an issue all at once. Every year Aimee seems to have a harder time managing as well. She is on high amounts of allergy meds and still having difficulties on the high count days with reflux, bleeding eyes, and oxygen levels.

During this time Aimee has met with multiple specialists, including a new physical therapist through Providence. This evaluation was so scary that Aimee sobbed for about 9 hours afterward.

Her brothers surrounded her with their favorite stuffed animals to help her feel better. The therapist said that currently Aimee's biggest fight is gravity. Every part of her body has grown heavier and her muscles have not been able to keep up with it. Lately it feels like her body is being rapidly twisted.  We are trying to do a better job of getting Aimee time everyday on her left side to help her breath and to attempt to slow this twisting shape.
Aimee also added these new arm braces to her daily routine. I rather hate bracing up both her feet and arms, but do want to avoid any surgeries that we can for the future. 

She has had two addendums added to her IEP. We were disappointed to learn that after evaluation for both vision and physical therapy at school that she will only receive consult services for each. However, we are grateful that she will at least have consult added. 

Aimee has also started a sedative medication to attempt to regulate her sleep schedule. While it initially caused disturbing effects, she is currently sleeping as well as she ever has. She has not woken up in the middle of the night (aside from desats) or been up all night in a month. We hear that this may not last, but it has a potential to give us all a couple of years of better sleep. We will take it! This consistent sleep has increased her awake time at school from 50% to 75% and overall improved her alertness.

Looking forward to a beautiful season ahead with Aimee smiles, silly sounds, and contagious laughter. I sure love this girl. 

4.12.17 When She Sleeps

Last night Aimee fell asleep pretty quickly and slept through most of the night. These pictures show how she was this morning! She has been visually engaged, chatty, and dancing. 

So, sleep. We are pursuing it aggressively for Aimee's sake. These hours awake late at night, during the night, early in the morning are holding her back. This has been the discussion in recent appts. Yesterday in our Epileptologist Neurology appt and last week with Neuodevelopmental, we considered different options. It seems like with an abnormally working brain, typical sleep remedies (like typical remedies in general) are not sufficient. We've tried! 

From here, we will have to go back to meet with the Sleep Pulmonologist to consider effects on bipap settings. We may need to also meet with the Sleep Neurologist to make the final choice of dosage for a new medication. We will use a seizure medication that has sedative side effects. Hopefully we will eventually be able to replace one of the lower dose seizure meds that she is already using, though the Epileptologist would prefer to wait until after puberty is finished before making extra changes. 

Yesterday, we were finally able to discuss the extended EEG Aimee had a few months back. I had gotten the impression from the Attending Physician that this EEG was the most clear of any that Aimee had previously had. She did not have any active seizures while hooked up and I actually thought this might mean lowering medications. Yesterday I was put back in place. The Epileptologist said that the EEG showed an extremely high seizure risk and we are to continue treating any extended or clustered movements as seizures. Darn.

With Neurodevelopmental we talked more about the bowel difficulties. We have pretty much reached the end of our options, aside from a surgery that is not likely to help much. I am praying that they think of another idea fairly soon though, because it is just getting more time consuming, less effective, and more messy.  
Last week we also met with an OT to have Aimee fitted for elbow braces. I was really thankful for the real life understanding that this OT provided. Aimee wrings her hands, plays with her hands, waves her arms, and sleeps with her hands under her chin. The OT mentioned that we may need to use one brace during the night and one during the day, contrary to the recommendation of the Rehab Doctor, so that Aimee can still get her hands together for stimulation and comfort. We had to have a special custom brace made for her left arm as the angle is much tighter. It is good that we went forward with these now before more movement was lost. We should be able to go in for a final fitting for these braces in a few weeks.

Other exciting news? This week we were able to attend church again! Finally the sick season is ending and we can begin to venture out to the more risky places. Thank you Jesus for Spring!

4.4.17 Popular

Sunday we took the kids to Costco and our non-verbal 8 year old ran into more people that she knew than we did! :) One of them was her classmate. He excitedly hurried up to her exclaiming "Aimee!" 

Oh my heart. 


6 beyond stinky blowouts in a day, including all over my favorite blanket and, yet, she still makes me smile

Aimee is worth it. 

And how much more our heavenly Father loves us. 

3.29.17 Rehab

Last week Aimee and I met with a new Rehabilitation Medicine doctor. Primarily these appointments are about equipment and body movement. We had originally been sent over to rehab, because we were concerned about changes in Aimee's tone. She was considered a "floppy baby" and had always had really low tone. However, her arms and lower legs seemed to be developing higher tone. In previous appointments, the rehab doctor had agreed that this was happening and tracked the changes. This new doctor disagreed. She said that Aimee still has low tone and she did not see any indication of high tone developing. Instead she has contractors in those areas. This means that due to her lack of use (not extending her arms, turning her hands, standing), her muscles and tendons are becoming shorter. This has become more and more evident, particularly with her left elbow, though both are limited now. She is not at a point where this is causing major problems. She does not try to reach for items, she has not had major skin breakdown there, and we are able to get clothes on and bath her with only a bit of challenge. However, when it does become a probelm, it would require a lengthening surgery, similar to what she had done on her left calf 15 months ago. In the hopes of avoiding additional surgery with subsequent bracing, we are going to attempt to have elbow splints made for Aimee to wear at night. The hope is to maintain the current range of motion and avoid the surgery altogether. 

The only other significant news items from this appointment were a recommendation to see a physical therapist outside of school and to potentially have a custom seat back made for her wheelchair to help with her side support issues. This will wait until we meet again with the pulmonary/orthopedic surgeon combo and hear an updated spine surgery timeline. 

At home, our current focus is on sleep. Aimee has been staying up in the evenings and waking up for several hours during the night to grind her teeth, cry, or just play. We have attempted to increase melatonin again and it is working for the moment, which is evidenced by the fact that she is energetic during the day and desatting throughout the night again. It is a hard game to play. Either she doesn't get good sleep and thus doesn't desat much or she does get deep sleep and sets monitors off. Considering other options going forward since it seems that increases in melatonin are only effective for a few weeks. 

And! I saved the sweet bit for last. This morning, Aimee looked at my face for a full 20 seconds! I could probably count on one hand how many times this has happened. She does look at Ed's face pretty often though, courtesy of his beard framed face. :) Hope springs eternal. 

3.19.17 Shining Bright

Ain't it a glorious day
Right as a mornin' in May
I feel like I could fly
Have you ever seen the grass so green
Or a bluer sky

Oh, it's a jolly holiday with Aimee
Aimee makes your heart so light
When the day is gray and ordinary
Aimee makes the sun shine bright
Oh, happiness is bloomin' all around her
The daffodils are smilin' at the dove
When Aimee holds your hand, you feel so grand
Your heart starts beatin' like a big brass band

It's a jolly holiday with Aimee
No wonder that it's Aimee that we love

(Lyrics from Disney's Mary Poppins "Jolly Holiday")
This was Aimee's reaction when I told her she was growing into a young lady. She makes the sun shine bright in my heart.