Riley... Riley... and more Riley

This week has been busy with appointments.  We were down at Riley's Children Hospital two times this week.  We met with the Speech-Language Pathologist (SLP) on Tuesday to work on Grant's feeding issues.  She wanted us to stop offering Grant water at meal times and instead offer the water between meals.  Other suggestions included going back to his smoothie drink (4oz of stage two baby food or baby yogurt mixed with 2oz of formula) during meal times and offer him crunchy things like puffed Cheetos or toddler veggie sticks.  Feeding is still a struggle, but he does usually take a little bit at each meal.  He is taking around 3 feedings to finish a 4oz jar of baby food.  I have also been trying new foods, but nothing has been the magic ticket.  I have also found out that he is not interested in grape juice.  I plan on trying some apple juice next.

Then today (Thursday) we were back down to Riley to meet with the neurologist and the pediatric surgeon who did Grant's G-tube.  The neurologist, told us the results of Grant's spinal tap.  He had quite of few of his amino acids high, the most significant being his alanine.  It was explained to me that alanine measures stress in the brain and can indicate a possible mitochondrial or metabolism disorder/disease.  Unfortunately, those conditions cannot be cured, but could possibly be helped with medication.  We also found out his MTHF or 5-Methyltetrahydrofolate was low.  He was at a 42 (I'm not sure of the units) and I was told 40-60 is low, while 60+ is acceptable.  In the last 5 years there has been new research that has shown that patients with similar values as Grant have had their neurological symptoms improve following folinic acid therapy.  We were told that there are no harmful side effects to treat him, so we are going to go ahead and do that.  She prescribed 4 different vitamins: Leucororin (folinic acid) 3x a day, Carnitine 3x a day, Riboflavin once a day, and CoQ10 2x a day.  It was nice to have a glimmer of hope that he could make some improvements.  I'm trying to not get my hopes up, but I am glad to have something new to try.  She said that if he improves that it would be in a few weeks.  If he does improve, Grant will be apart of the very small group that is able to find some sort of diagnosis through a spinal tap.  There are only 4 people that she is currently treating for a folinic deficiency (all of which showed an improvement folinic acid therapy).

The last appointment wasn't very eventful.  The pediatric surgeon said that his g-tube looked great and he could take baths, go swimming, or do whatever he wanted.  We only need to go back to see him as needed.  Yay!  Next time we go back to Riley is May 17th.  I will be happy to stay in town for a while!

Now hopefully all these new medications will be covered or are inexpensive because I haven't tried to pick them up from Walgreen's yet...

Ups and Downs

We finally have fallen into a schedule with Grant.  He is adjusting really well and recently has started sleeping through the night again.  We are doing 3 tube feedings a day, and still giving him one bottle at night while he sleeps.  So far we haven't had any problems.  He does puke/spit up occasionally, but I wouldn't say that it is frequent.  He is doing really well taking water by mouth, but he isn't that thrilled with very many foods or other liquids.   He used to eat puffs really well, and would eat them one after another, but now puffs don't seem to interest him at all.   A dietician suggested trying more bold flavors and trying to give him some watered down juice.  I plan on trying that in the coming days.

I do notice that Grant is more engaged, interested, and alert.  He is reaching much farther and in more directions than he used to before the tube.  He is also throwing toys off his high chair tray.  His therapists have said that they are impressed with his progress.  He still isn't very motivated to move on his own and I really think that is the main thing that is limiting his mobility right now.


A few other things: I have said before that Grant had a genetic duplication show up on his microarray test, and that we were waiting to get his genome sequenced to see if it is significant to his medical issues... well, we were denied for the test.  We are going through the appeals process, so hopefully we can win.  Also, Grant has medicaid as secondary insurance now, so hopefully that will help things.  We are also so looking at getting Grant baptized and we took our first class today.  He should be getting baptized within a month or so!

Time for the G-Tube

Grant's G-Tube surgery was scheduled for 3/27/13.  The day before my dad and I took Grant to church with us.  I'm not a very religious person, but we asked the priest to do a special blessing for Grant.  The priest said a little prayer about guiding the doctors during Grant's surgery.  I figured it wouldn't hurt anything to have some extra prayers!

The day of Grant's surgery we woke up early and left for Riley at 5:30am.  The trip down there was uneventful and the check in process went fast.  They called us back and asked me a bunch of questions about Grant's health and current medications.  We met with the anesthesiologist, the pediatric surgeon, and the neurologist (he had a spinal tap done to check for rare, but treatable neurological disorders).  We signed a bunch of consent forms and had plenty of time to have the doctors answer our questions.  We took off his clothes and took a picture of his beautiful belly, and then another picture of him in his surgery gown.

We checked in at the waiting area and then headed down the the McDonald's in the lobby.  We were grabbing a drink and a small snack when I got a call from the surgeon saying that the g-tube was in and everything was good.  He told us the neurologist still had to finish his procedure and it should only be another half hour.  We headed upstairs and continued our wait in the waiting area.

Finally, they called us back and we were in a large recovery room with many other children.  I got to hold Grant and he was pretty sleepy and fussy.  After about a half an hour we were able to move to our individual room.  I wish I would have taken a picture of the room because it was nicer than my recovery room after having Grant.  It had two TVs, a DVD player, and a video game system!

Grant was pretty sleepy the first day, and he was also in pain when you moved him (to change diapers).  I felt terrible for him.  The first night was pretty rough too.  He cried a ton!  I think now he might have been hungry because they only did half feeds for him that night after surgery.  He was a completely different boy after we fed him the next day.

Things have still been a little rough during the nights, but he has been acting completely fine during the day since the day after surgery.  His bowels aren't quite as regular as they used to be.  I'm not sure if it has to do with the surgery, getting more to eat, or that we changed from Pediasure to Nutren Jr.  I'm hoping that things get regulated soon.

I really do think that he seems more engaged and interested in toys now.  He is making more vocalizations too.  I'm not sure if I'm not reading too far into his behaviors, or wanting to see a change in him, but I really do think that a change is there.  Time will tell more, but either way, I still think it was the right decision!

Feeding issues, yet again.

Grant's feeding issues are getting worse.  He is refusing nearly all food when he is awake, and he is taking less in his sleep.  I used to keep track of his intake, but since deciding on the feeding tube, I have stopped.  It was just so stressful to see how little he actually eats.  If I had to estimate how much he is taking in a day, I would guess around 15 ounces.  Even though he is making the decision to get the feeding tube easier by having no more good days, I am still struggling.  I'm not scared for the surgery itself, but more what life is going to be like after the feeding tube.  There are so many unknowns about what is going to happen, and I won't have all the answers until after the surgery.  I know that the feeding tube is the right decision, but I can't help wondering if I am doing the right thing.

Lately at every diaper change I lift up his shirt and look at his perfect little belly and kiss it.  I am sad that soon there will be a tube sticking out of his cute little belly.

Getting Caught Up

I couldn’t believe this story except for the fact that it happened to me.  

The summer before my last semester of my master’s degree, my boyfriend and I bought a foreclosed  house.  It was a fixer upper, but the location couldn't have been better.  It was directly across the street from my parent's house.  Then got married two weeks before I was to return to school.  My new husband stayed in our hometown, while I moved an hour and a half away to finish school.  He looked for a second job to help support our family, and luckily he found one at the local ice cream factory working in the freezer.  He worked 60+ hour weeks to try and save money, while I was finishing up school.  My dad, mom, and husband worked diligently on our house fixing it up, so we could move in after I returned from school.

Shortly before Christmas of 2011, I finished school and we were finally able to move in our new home.  Then on 2/15/2012 after 7 hours of non-medicated labor, realizing he was breech and then having a C-section our beautiful son, Grant, was born.  Nothing appeared wrong with him, he was 7lbs 11oz and perfectly healthy.

The first three months of his life he cried, and cried, and cried more!  Not having been around infants before, I just thought it was perfectly normal that some babies would cry more than others.  His pediatrician assured me (and my mother) that nothing was wrong.  When he was 4 months old (June 2012), I really felt like something was different about him.  His pediatrician reassured me that he was fine, and not to worry.  My dad offered to babysit Grant, if I went back to work.  Shortly after, I found a job and started working full time in July.

When Grant was 6 months old (August 2012), I knew that something wasn’t quite right with his reaching, and other physical milestones. Again, the pediatrician tried to reassure me, but this time I was insistent on getting him checked out, and his pediatrician agreed to let early intervention evaluate him, but “only for my piece of mind”.  He ended up qualifying for occupational therapy for an hour each week.

In September, my husband lost his full-time job.  They wanted him to change shifts, and that conflicted with his other job where we got our health care benefits.  We felt lucky that I was working full-time and could help with the bills.   

Then in October, I was in a car accident and severely broke my foot.  I had to have surgery.  They put in a bunch of screws, and had to fuse my bones together with a bone graft they took from my ankle.  I was in an enormous amount of pain for months.  I couldn’t do anything but keep my foot elevated for 2 months.  My boss had tried to hold my job for me, but I was gone too long, and I lost my job.  I hadn’t been working long enough to be able to collect any unemployment, and suddenly we were down to one part-time income. I was in a cast for almost 3 months, a boot for a month, and since February 2013 I have finally been able to get back to a tennis shoe. That was 4 months I was on crutches. Every step I take is still extremely painful.

But, while I was trying to recover from the car accident, we started to realize how severe my son’s delays really were.  We switched pediatricians and the new one informed me that he also had a pretty severe speech delay.  We got him evaluated again, and he qualified for Speech Therapy for an hour each week too.  Our new pediatrician recommended that we go 2 hours to the Children’s Hospital to meet with a Developmental Pediatrician, which we did.  The Developmental Pediatrician informed us that our 8 month old son was at the developmental age of 4 months at best. He recommended a bunch of tests – blood work, urine analysis, swallow study, MRI, and a genetic work up.

The MRI showed that his all of the parts of his brain are there, although they are not growing on pace for his age.  That didn’t really give the neurologist many clues as to the problem because his brain could possibly catch up.  The micro-array genetic test showed that he had a duplication on one of his genes, but the geneticist isn’t sure of the clinical significance.  We are currently waiting on insurance to approve a more in-depth genetic test that could give us more insight to what is going on with our son.  The most of the other test came back normal, although we were referred to an Endocrinologist because his thyroid functions seemed a little off.  Further testing revealed that he does have an under-active thyroid and he needed to start medication.

One of the things we were struggling with Grant was feeding him.  Around 5 months I started to struggle getting him to eat.  The problem would come and go, he would have good days and bad days.  I wasn’t sure if there really was a problem or not.  I couldn't get him to even start to suckle when he was nursing.  I would put his pacifier in and then remove it and try to get him to suckle.  That worked for a while, but at 6 months old I finally gave up trying to nurse him.  I started to exclusively pump and give him bottles. He wouldn’t always eat when he was awake and we found ourselves giving him bottles in his sleep.  

We started working with feeding therapists in October a week before the car accident.  The problem still as sporadic, and with the chaos of my foot injury we just kept doing our best to get him to eat however we could.  The issue got worse and worse, until I finally it was obvious that there was a problem and it wasn't getting better.  We had a swallow study done to see if he was inhaling his liquids, which he was not.  Liquids of all thicknesses were penetrating his airway, but he was not aspirating.  We had no explanation for why we could feed him in his sleep, but yet he refused the bottle when he was awake.  I was asked to track his food intake, and the developmental pediatrician was concerned with how few calories he was taking in.  We tried different medicines to see if they would help, but they did not.  Acid reducing medicine helped him to start sleeping through the night again, but not with his consumption. We started making his formula more calorie dense under the directions of the Dietician.  Each time I checked in with the Pediatrician he would bring up possibly needing a feeding tube called a g-tube.  We tried everything to avoid it, but we feeding him almost exclusively in his sleep and still not getting anywhere near the number of calories he needs a day.  We finally decided it was time for the g-tube and we have the surgery scheduled for 3/27/2013.

During all of his testing, his delays were becoming more and more obvious to everyone.  At 13 months, he cannot roll over from his back to his belly.  He cannot get into a sitting position by himself.  He isn’t strong enough to get on all fours, and he is nowhere near crawling.  Our current diagnoses are: Global Developmental Delays, Hypotonia (low muscle tone), loss of white matter in the brain, hypothyroidism, duplication on 5p.14.2 and 5p.14.3 of unknown clinical significance and a severe peanut allergy.  He is developmentally at around a 5 or 6 month old level.  He is currently getting Occupational Therapy, Physical Therapy, and Speech Therapy each for an hour every week.  I am in Physical therapy for my foot 2x a week, and between all the specialists for him and doctor appointments, I feel like I have a full-time job just trying to keep track of everything!

Then as if things aren’t hard enough between trying to recover from my foot, getting my son help, trying to get by on my husband’s income of just working a part-time job…

Yesterday (3/17/2013) what I can only suspect was a drunk driver hit our car in front of our house.  It happened in the middle of the night and he drove off.  He was going so fast, that he took out the light pole across the street and pushed our car over 15 feet into another car.  Luckily our insurance will cover it, but we still have our $500 deductible.

Despite all our misfortune and hardships, I feel very fortunate to have my husband and my son.  They are both so amazing.  I have never been more in love with anyone than my husband and I couldn't imagine being happier with anyone else.  He is my rock, my everything.  I really feel like I have a partner in this difficult journey, and I am so thankful for that!  My son might not be able to get around on his own or express himself with words, but he has a smile that will light up a room.  He has the cutest little giggle, and the most unique quirks that I couldn't live without!