Long Overdue... Like Usual.

Just a quick update on what I blogged about last time - He now has Children's Special Health Care, but it does not cover CoQ10 without a confirmed mitochondrial disease diagnosis.  He also started the CANI program, but I have since stopped.  I tried to give it a chance, but it wasn't relevant to us and I found it overwhelming to devote that much time each week to something that wasn't beneficial... plus the lady was about a half hour late for EVERY meeting.  We tried to do a blended diet for Grant for a while.  We got a very nice blender from BlendTec, but right now it is overwhelming to try and keep up with.  I don't feel like I know the right things to give him and the blends are so thick and voluminous that it makes feeding him even more difficult.  I haven't given up on it forever, just for the time being.  

 I was really hopeful that this latest genetic test (Whole Exome Sequencing) would give us some more insight into what was going on.  Unfortunately, it didn't reveal much.  It did find 4 different genetic variations, but they have unknown significance.  Matt has 3 of them and I have the other one, and we are fine.  Perhaps the combination of the four of them has some significance?  No one knows.  I thought this test would give us a clear answer, or at least tell us more about his duplication and our risk for future children.  It didn't do any of that.  They can't tell us our risk for future children because they don't know what is wrong with Grant.  We plan on seeing another geneticist down at Riley, because I don't feel like they really care that much about us.  I feel like they are getting the results and just reading them to us.  I think there is more information out there if they looked a little harder, but it doesn't seem like they care to do that.  Maybe I'm wrong and this is how they all will be, but I want to find out.

We have been down to Riley a few times.  The appointments haven't been very informative.  The biggest news is probably that our new neurologist who specializes in Mitochondrial Disease didn't seem to think that is what is going on with Grant.  He kept bringing up Autism... which just a week prior our Developmental Pediatrician didn't seem to think that was Grant's issue.  The Neurologist tried to give us some insight on our future and told us that Grant will most likely need help all the way through school (Including high school).  He also told us to be prepared for Grant to never live independently.  Our next follow up is in 6 months and we may do a skin biopsy to see if Mitochondrial disease is a possibility and if we need to proceed with a muscle biopsy.  I am giving up hope on getting a diagnosis anytime in the near future.  I am trying to come to terms with that. 

We have started going to private physical therapy in addition to all the therapies he receives through First Steps.  We have only been to the one in town here a few times so far because the week after we started we had the opportunity to go to an intensive physical therapy program at Euro Peds in Pontiac, MI.  His program had him going to therapy for 2 hours each day for 2 weeks.  We stayed at a hotel because the drive was 3 hours.  Luckily, the hotel had discounted rates for Euro Peds patients.  We had to pay $60/night, but our room had a kitchen and was really nice for the price.  The hotel had a hot breakfast and provided dinner Tuesday through Thursday.  We learned a few different things that help Grant during therapy.  He was in a compression shirt, and that really calmed his tantrums from full blown to mild.  He will work through the tears if you keep working with him.  They also recommended compression pants and gloves.  They want him in AFO (basically a shoe insert that comes up below the knee) to help keep him from hyper-extending his knees.

While we were there we did pick up a new skill – ROLLING!!  He can now roll from back to belly and back to his back.  He is really a rolling pro.  He doesn't like to do it, but he will if you prompt him.  He has only rolled on his own without prompting 3 times.  But that is 3 more times than I expected!!!  He still seems to lack motivation.

He has been fitted for the AFOs, and should be getting them in 2-4 weeks.  I am pretty sure insurance should cover it all, so I hope that it helps his standing.  I got to pick out a design to have on the AFOs and I picked Notre Dame.  Matt is pretty excited about that!  We went to Midwest Orthodontics and I was pretty impressed.  In fact, it is the first appointment that I went to that made my life easier.  While I was there I found out that they can order his SPIO compression gear.  That is one less thing for me to have to worry about :)

I just had another foot surgery to remove all the hardware.  I am excited for my mini vacation!  I will try to blog more frequently.  Sorry for those who keep checking to see that I haven't posted anything.  It is hard to keep up with life, friendships, my health, and blogging.

Just Checking In

I know that this post is long overdue.  I have been putting it off because Matt broke the power cord to our laptop and I haven't wanted to post from my phone.  Luckily, I found a computer to use which will make this update take a lot less time. 

Since the last time I posted, Grant was baptized.  It was a very stressful day, and I am glad that it is over.  I didn't plan it very well and his baptism was schedule right in the middle of his usual nap time.  He was a fussy mess.   Thankfully we made it through it!

We still have to wait until the end of August to get the results of our genetic testing back.  We still don't have a diagnosis yet.  His progress is slow, but at least he isn't moving backwards anymore.
Grant has come a long way with his progress with his hands and arms.  Not only is he reaching for things, he is allowing his hands to be manipulated.  He is so much more accepting of someone moving his arms and hands it really blows my mind.  He used to start to crying hysterically whenever someone would touch his hands.  Now there are times that I sit on the couch and just hold his hand.  It is absolutely amazing. 

Unfortunately, there haven't been too many other changes.  He is still extremely limited on what he can do physically.   His therapists think that his muscles and joints all work and he is capable of walking, but it will just be on his own time.  I have been looking into getting him private therapy because I would like a second opinion if we need any special equipment like a stander, braces, or a gait trainer.  Like everything I try to do for Grant it takes a lot of time and paperwork.  I am trying to get everything in order, but it is difficult when people will not return my phone calls. 
I am also still in the process of getting Children's with Special Health Care Insurance for Grant.  I'm hoping that this insurance will pay for Grants CoQ10 that is currently not covered by his other insurances.  Right now we are giving him CoQ10 that is over the counter and not as good of a formula as they would like him to be on.  We just can't afford what they want him to be on because it is $200/mo. 

Grant started a new program called Early Headstart through CANI.  They come out each week for 90 minutes.  There are different things that we work on and it is more of a hands on program then the other therapies he receives.

I am currently trying to get Grant on a blended diet.  Instead of the formula he gets through the tube, I would use a  special blender to blend real food thin enough to put through the tube.  The blenders are expensive even with a medical discount.  They are about $300 (including tax) for a reconditioned one.   I really would like to get him on the blended diet because right now his stools are completely liquid and that just doesn't seem right.  I need to make an appointment with the G.I. doctor because of that and because his g-tube site has some overgrowth of tissue that needs to be "burned off" with sliver nitrate sticks and I don't think I can do it myself.  I'm hoping that the real food will be better for him and help him hit new milestones.

It is hard having a special needs child.  I don't think everyone understands.  People tell me not to dwell on it or not to label Grant as "delayed".  But it is hard when you have to feed your child through a tube 3 times a day.  Every commerical of a baby or anytime I see a child out, I am reminded that Grant is different.  He can't walk.  He can't talk.  He can't even feed himself.  I am constantly reminded of it.  I am jealous of people with normally developing children.  I know that things could be worse, but I just wish our life didn't consist of doctors appointments, therapies, and tube feedings.  I wish things could be easier.

Progress Report

Grants progress has always been a slow journey.  He will gain skills only to lose them, then gain them, and lose them again.  It is always a bitter sweet moment when he makes progress because I'm not sure how long it will last.  The first time I noticed something was different with Grant was 4-6 months old when I noticed he didn't seem to be using his arms or reaching as much as I thought he should.  That lack of arm usage continued until he was 11 months old.  Although he started reaching for things then, it was only when you dangled things directly in front of him.  He payed little to no attention to things to his sides or sitting in front of him.  A week after we started giving him the levocarnitine he started to reach for things all around him.  I'm not sure if it was a consequence of timing, the medicine, or being on the g-tube for 6 weeks.  Regardless of why it happened, I am very happy.  He seems a lot more aware and alert!  He is exploring things frequently now.  It really is remarkable to see.

Out of the vitamin cocktail that was prescribed we have only been able to get the levocarnitine (started 4/26/13) and the folinic acid (5/4/13).  The Riboflavin is over the counter and I found that when I crush the pills and try to give it to him by mouth, that he spits it out.  I don't blame him because it is NASTY!  I tried to put the crushed pills in his G-tube, but it clogs it.  I'm working on getting it liquified at a compound pharmacy, so I can put it down his tube without clogging it.  The coenzyme q has been a complete and utter nightmare!  I can buy it online, but it costs $200 for a month supply.  The insurance company says that it doesn't recognize the drug, the nurses at the neurologist's office have been completely useless, and the pharmacy is too busy to care.  I am trying my hardest to advocate for my son, and I am calling all three places nearly everyday.  Hopefully, my efforts will get me somewhere soon.

I also found out that many of the vitamins he was put on is very commonly prescribed for people with mitochondrial disease. Mitochondrial disease was first mentioned when we met with the developmental pediatrician in December '12.  He said that it could explain Grant's delays or it could be one of two other things as well.  The Neurologist mentioned it again when we met with her last month.  I never thought too much about it until I researched it a little more and now I'm convinced that the Neurologist highly suspects Mitochondrial Disease.  I am working on getting in to a Mitochondrial Disease Specialist, but I can't even make an appointment until I fill out a bunch of paperwork for them to review to see if Grant is even a candidate to be seen.  Even then, I was told the wait would be 12-18 months.  Ridiculous.

The other progress Grant has made is mostly all cognitive.  You can just tell that he is studying things more, exploring with his hands more, and moving his body more.  He still is pretty limited physically.  He has only been rolling from belly to back without help.  His strength is very weak.  I'm hoping with all his therapy and constant encouragement from Matt and me that he will get stronger and stronger.  I do everything I can to help him, and I am hopeful for the future, but I still worry a lot.  Once we have answers I feel like I will be able to focus more on the here and now and not the future.  Regardless, he is one cute sweet boy and I love him a ton!

Finally some GOOD news!

Grant was approved for genome sequencing!!  It won't be final until we get written confirmation, but I am quite happy with the news!  The test results will take 4 months after his blood is drawn, but at least we are on the right track.  Just because he might have a genetic condition, doesn't mean that is the only issue he is dealing with so, I am also trying to get a second opinion from Akron Children's Hospital regarding his high amino acids.  I was told that it could mean a mitochondrial disorder, but that we couldn't test for it until he was 2 or 3 and had a mature muscle to take a biopsy from.  That seems like a long time to wait, so hopefully the second opinion can give us more options.

The other good news is that my hubby got selected to play golf with a local weatherman.  If he wins, then he will win $500 worth of golf gear.  If he gets a hole in one on the second hole, then he wins a Lexus!  Not that it is going to happen, but it is fun to have the opportunity!

I got to be a juror the other day.  I was selected as the foreperson and I got to hand the verdict to the bailiff.  It was neat to get to do something that most people don't ever get to do.  The gist of the case was that a guy broke into a home through a window, ransacked the entire place, stole jewelry and small electronics, ate a hot pocket, and left his bloody shirt behind.  He then pawned the stolen property the following day.  His only defense was that there was not enough evidence to convict him and that the state didn't eliminate the reasonable doubt.  I'm pretty sure the guy was a public defender because it was a very weak defense.  We found him guilty.

I am going to post again soon with all the progress Grant has made since getting the g-tube.  Honestly, it is pretty remarkable.  My parents even noticed a difference after being gone for 2 weeks!

Here is a recent picture of the family:

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!