Caught Nicolas Smiling!

He was so happy to have a full tummy!  I love my little man!

Baby Leman...

It's a girl!!!!!!!

Hand Splints...

For the most part Nicolas keeps his hands held in a fist.  When he is upset he clenches them very tight.  When he is relaxed we can stretch them open but you can feel the muscles are very tight.  So today Nicolas was fitted for hand splints.  We should get the splints in a couple days.  The gentleman who measured his hands was a joy to speak with.  He and his wife have a beautiful (as seen in her picture) 10 year old daughter who was diagnosed with a rare genetic disorder.  It was a very encouraging conversation....about expectations....about life with Nicolas....and about how truly precious these children are in our lives.  The way he mentioned God throughout our conversation reminded me how important HIS role is in our lives...God prepared us in such a special way and brought us together (all of us...not just Jake, Garrett, and I...but our family and friends and Doctors too) so that Nicolas would be loved and cared for.  This is something to be thankful for each and everyday!  Tonight (as every night) Nicolas and I will pray for the sick, the weak, and those in need...people we know...and those we don't...God bless us all...and continue to be with us night and day...and thank you for the opportunity to be reminded each and every day of Your love, Your presence, and for the many gifts You have given us.  You know what we need and You always provide!  Thank you LORD!

On another note....I'm picking Garrett up from school at 1:15 tomorrow.  Mema, Garrett, Nicolas, and I are going to South Bend for an Ultrasound...My sister (Kimra) is expecting their 3rd child and tomorrow we will find out if it is a boy or a girl!  I'll let you know tomorrow!  I'm so excited!!!!

Love to all!

Felisa

Lab Results...

Today Nicolas Had another immunization shot.  On Thursday he will get another and we will be caught up to 6 months.  We will wait 6 weeks and begin another series of shots that are typically given at 9 months.  Then wait another 6 weeks and  do it all over again...At that point we will be completely caught up!  So we are getting there!  Because the cause to Nicolas' difficulties is unclear they give him one shot at a time so that there are no complications with any grouping that could possibly make his symptoms worse.  He occasionally will get a slight fever from them...but on Thursday last week he got hives from one...one dose of Benadryl and it went away.  So he is doing pretty good! 

 

Last week we found out about all the recent blood work and a urine test...this was part of genetic testing...it came back negative!  Which is good.  The next step is the muscle biopsy...which we have been told will be done this Spring.  I made a call to Riley today to start setting that up.  I have not heard from them yet but I will let you know as soon as I can about when it will be scheduled.

Nicolas is getting so BIG!  He is officially into his new car seat!  We still have it rear facing...and will continue too until he is 36 pounds.  Developmental Pediatrics at Riley said Nicolas is in an appropriate car seat until then.  Once he is 36 lbs, if he is still not supporting his head and has no trunk control, we will order him a special car seat...one that insurance will cover.  Just making sure our little peanut is safe no matter where we go!

That is all I have today!

Take care!

Love,

Felisa

Busy day...

Today we took care of Missy (Mema's doggy), had therapy, washed the car, paid bills, made lots of phone calls, did the laundry, took a bath, went to the doctors to get my first Synagis shot, played with Jack, Will and Garrett and picked up Mema from the hospital.  It was a busy day!

Miss you and love you all!

Nicolas

Here's what we know...

During ACTH Nicolas started having high blood pressure as a side effect...and began taking a diuretic for that...that medication's side effect caused his potassium to go low so we gave him potassium supplements.  Well...Nicolas's blood pressure was great yesterday so his doctor took him off both medications!  In one week we will go to Parkview North to have lab work and blood pressure checked to make sure he is adjusting without the medications.  

As for the myclonic seizures and infantile spasms.  Both are difficult to treat and because the doctors are concerned about mitochondrial diseases we are limited to what medications we can use to treat the seizures.  So far we are using Topamax to treat his seizures and Valium to treat his seizures and to relax his muscles.  Because we are still seeing some seizure activity and because he has had a tough time relaxing recently his doctor increased the dose of both medications.  Hopefully he will be more comfortable.

As for the MRI...The brain looked fine and what they had seen through use of spectroscopy looked good...However Nicolas has a thinning of the white matter around the brain.  When you compare his MRI's the white matter hasn't changed.  The white matter affects motor activity and the peripheral nervous system.  What does this mean?  Well...it explains why he has developmental delays.  Can the white matter grow and get better?  Will his motors skills improve even if the white matter doesn't grow?  There continues to be many questions they just don't have answers to.  We find pieces of the puzzle but the puzzle isn't fitting together yet.  What they tell us is that many children develop many different ways.  They cannot predict how Nicolas will develop.  Even if we have a diagnosis at this point it wouldn't mean that they could give us developmental expectations for the future.  So we will continue to live day by day and pray.   Dr. Walsh and Dr. Hainline both agree that the next step is a muscle biopsy.  So at this point we will have to decide when and where that will happen with the assistance of Dr. Walsh and Dr. Hainline.  We met with Dr. Walsh mid March.

Our next scheduled appointment with Neurology isn't until July.  If for any reason we need to see them sooner we can bump up the appointment.  So our future trips to Riley will be one in March (to see 3 doctors), one in June (to see Hainline), and one in July (Neurology).  We assume the biopsy will take place this Spring.  It is nice to have more space between visits!  

Thank you for your continued prayers!

Felisa

Today's Riley Visit...

Nicolas and I will be leaving at 11 for Riley.  That will give us plenty of time due to weather conditions.  I'm sure I will hear about the MRI today.  We will not know the blood test results until the first or second week of February.  I will fill you in soon.  Until then this is what we do know...  We will start giving Nicolas Immunizations again this month...He is currently caught up to two months.  And we were approved recently by insurance for Nicolas to receive Synagis shots.  Synagis is a medication that helps protect high risk babies from severe RSV (Respiratory syncytial virus).  It is based on weight so Nicolas will receive one Synagis shot for the next 4 months.  Pray for a safe trip!

Thanks!

Felisa