Well, even though it’s 80 degrees, summer is over… how do we know? Isaac got sick. And when Isaac gets sick he doesn’t mess around, he does it up right!

Two weeks ago the girls brought something home that for them manifested itself as a high fever, body aches, lethargy, chills, a stuffy nose, a small cough and blood shot eyes (this is the Adenovirus, so all of you who have or had these symptoms this is what you got!) This lasted for them almost a week. But Isaac got it and made it his own… that usually means a near death experience, he’s a tough-guy so that’s just how he rolls, ya know livin’ on the edge.

Isaac first got sick on Friday at 3:00 am. He was sleeping but breathing hard and fast and his sats (oxygen levels) were sporadic and he starting lurching. Please keep in mind that due to the Nissen Isaac cannot throw up. But he can heave and lurch which is painful and can cause the Nissen to tear loose (that is very bad). So we gave him some Zofran (anti-nausea med), I gave him a priesthood blessing and we slowed his G-tube feed to 30 ml/hr rather than his 60 ml/hr. His breathing seemed to normalize and he stopped lurching. So we went back to bed. The next day seemed okay, but he did have some lurching, diarrhea, and a stuffy nose, he also slept more than usual and refused to eat by mouth.

Saturday morning everyone seemed to be healthyish and we had plans to go to “Broomfield Days” (our local community festival) with Bryce’s family. So we woke up at 6 am and started dressing up our kids like clowns for a contest (we have titles to defend!) The girls dressed up like happy super cute clowns and Isaac went as a firefighter clown; we even set his walker up like a fire truck. The “oooohhh, look at him”s and “awwwwe, how cute”s and “he’s a little fireman”s were incessant and unrelenting, but well deserved. Just kidding we eat it all up and are very proud of him and know that he is pretty much the cutest little guy in the world and love showing him off. Our offspring defended their titles with honor and won tons of prizes including a bike and a 4 ½ foot tall giraffe (“pudraff” as Bria calls them). Bria got her picture in the paper for the third time in two years! After the kids (and Jenn) rode in the parade in their clown costumes, Kaylee started to shiver again and feel feverish and Isaac started to lurch some more. We vented Isaac’s stomach and drained some of his breakfast out to stop him from trying to throw up. That seemed to work. After a little while he just ran out of energy and fell asleep in his stroller (in retrospect he likely had low blood sugar, but we had no way of knowing at the time). We decided to go home early and allow the kids to rest and get some lunch. The girls both fell asleep. Isaac continued to have diarrhea. We tried feeding Isaac and he started lurching again so we gave him some Zofran. Feeling like we might have to take him in to the hospital we kept a close eye on him, he seemed active and his sats looked good. So we thought we might make it through this… “oh, how the proud fall!”

Since Isaac was sick and could not hold any of his normal blended diet we had no choice but to feed him Pedialyte through the night which is what the doctors always recommend.  This is good for replenishing ones electrolytes and hydrating the body again but in retrospect it was not a good idea. In the morning (Sept 20th: Sunday)  he was puffy and swollen. He was like a limp rag, no energy, his oxygen levels were 88 on ½ liter when awake (that is bad FYI) and he just wanted to lay down. He was also congested, all in all he was miserable. After much consideration we had another elder from church come over and we gave him a blessing. Jenn then took him to the ER at Children’s in Aurora. In the ER they found that his sugar levels were 42 (that’s VERY low; the norm is between 88 and 140 or so). The doctors immediately began an IV, gave him a dextrose dose of 10%, and began drawing blood for a lot of tests.  They also did a urine test and found that he had ketones (Ketone is a chemical produced when there is a shortage of insulin in the blood and the body breaks down body fat for energy). He was also diagnosed with the Adenovirus. After being in the emergency room for 5 hours they admitted Isaac.  As soon as Jenn and Isaac got up to the room, they checked Isaac’s blood sugar again and he had dropped to 36.  At least 6 medical staff came rushing in to hook Isaac up to every monitor they have and pump 10 % dextrose into him again but this time on a continuous drip.  Isaac was very lethargic and all he wanted to do is sleep.  This, of course, made everyone nervous as he could lose consciousness any minute. They tested his blood sugar levels again that evening and they did go up. Over the next couple of days Isaac’s oxygen sats got better and he was able to come off of oxygen during the day.  He stopped trying to throw up and we were able to feed him 105 ml of his blended diet over an hour (This is his normal amount but at a very slow rate).  Isaac slowly gained energy back but his blood sugar levels were all over the place.  At one point they even had to raise his dextrose level to 12.5 %.  The doctors informed us that with this level of sugar his veins would become very stressed but we did not have a choice.  Isaac was not having very wet diapers despite all the IV fluid that was going into him with the dextrose and this caused the doctors to question where all the sugar and fluid was going.  They told us that Isaac was the biggest question mark (as well as the cutest kid) on the floor and that we might have to go to the PICU (pediatric intensive care unit).  Fortunately they got his sugar under control and he started having wet diapers again so he was able to stay in the same department. But things still did not make sense. In the process of trying to figure it all out Isaac got to add two new doctors to his entourage; he is at 25 doctors and therapists. His new additions are an Endocrinologist and a Metaboligist. His test results kept coming back normal except for low Potassium, Iron, Vitamin D,  and Cortisone. I had to make Isaac’s food fresh every day and find a way to get it to the hospital as their policy did not allow them to make his food and Isaac’s food was only allowed to be kept for 24 hours at a time. By Thursday we were sure Jenn and Isaac would get to come home but at the end of the day the doctor on call said that his eating schedule was not narrowed down enough to an exact science of how often, how much, and how fast he should be eating.  Over the next 4 days Isaac was tested with at least 200 pokes trying to figure out how to keep his blood sugar levels normal and consistent before, during, and after he ate.  During this week Isaac’s G-tube button broke (the balloon popped) so a new one had to be ordered. We switched Isaac from a Mini G-tube button to a Mickey G-tube button. This will help us to be able to feed Isaac easier when doing bolus feeds.  Jenn and I had to learn how to check Isaac’s blood sugar levels on a daily basis and learn how to give him a glucagon shot in case his blood sugar levels ever get lower than 50 again. By the time we left all of the nurses and doctors had fallen in love with Isaac and were both happy and sad to see him go. In the end, Isaac was diagnosed with Ketotic Hypoglycemia and dumping syndrome.  These may or may not continue for the rest of his life.

There are a few test results that have not come in yet but to update you on some other things you may not know about: Last week we found out that Isaac does not have CHOPS and our insurance does not want to send him to Philadelphia until we find out if Isaac’s syndrome diagnosis has anything to do with Cornelia de Lange.  Isaac is now being tested for a syndrome called Kabuki Syndrome as they have Cornelia de Lange symptoms and Hypoglycemia.  If he does not have this they will begin Exome Sequencing tests to find out what Isaac has.

Thank you to the many people who helped us throughout this week.  We had the perfect storm with all of our children being sick at one point and everything that came with it.  Family and friends came to our rescue many times once again and we could not have made it through this week without you.  Thank you! Thank you! We are continually blessed to have you all.  

We recently had an appointment with almost all 21 doctors and therapists of Isaac's.  I must say our family is extremely blessed to have so many intelligent minds working with us.  They discussed different procedures they want to go through with in August if we still can't get Isaac off of oxygen during the day time.  Isaac's diagnosis is in question right now but for now he is still said to have Cornelia de Lange Syndrome (CdLS) until proven differently.  We are enrolling Isaac in a medical study for a newly discovered syndrome called CHOPS. CHOPS was discovered by a genetic specialist named Dr Kranz, in Philadelphia. There are currently only 3 people in the US who have been diagnosed with CHOPS. If Isaac does have it he will be the youngest person to be diagnosed and would prove a great resource for the study. We will be going to Philadelphia soon to have Dr Kranz examine Isaac and do some genetic tests. Dr. Kranz is world renowned for his knowledge in CdLS and is considered the foremost authority on the syndrome. People are referred to him from all over the country by geneticists who suspect CdLS to diagnose their children. Because of that he had also become a foremost authority in things that look like CdLS but aren't. That is how he discovered CHOPS. So, even if Isaac does not have CHOPS or CdLS Dr. Kranz will be the best person in the world to tell us what he does have.
Isaac's walker has proven to help him developmentally in more areas than we could have imagined.  Since he started walking with his walker, he is babbling more, he is much more physically active, and he seems to be more curious about everything around him.  He puts a lot of objects in his mouth, unfortunately food is not included in those objects. He does not like eating and usually gags  or does a little head shaking dance to say "no thank you".  In order to help him have more of a desire to eat we let him play with as much food as possible.   He is completely off of fructose so his diet is very limited between the texture and the content of food he is aloud to eat.  Non the less, with his new blenderized diet that he eats through his G-tube, he has started gaining weight again which makes everyone happy.
Also, it seems as though Isaac does not have 3 teeth. He has all of his teeth that he should have for his age except for the lateral Incisor and Canine on the bottom right and the Canine on the bottom left.  There are no signs of these teeth even starting to come in. They will be doing x-rays soon to see if these teeth are not there or have simply not come in yet.  That's all we have for now.  Till next time, we hope all our family and friends are doing well.

            It's been awhile since I've written about what is going on as I have been working on getting my CNA to take care of Isaac, but in general Isaac is progressing and standing still all at the same time.  To note the positive information first, Isaac received braces on his ankles to give him support as well as a walker and I can't tell you how excited he was to walk like his sisters do.  His smile was from ear to ear as he pushed himself to move with all the strength he has.  He has also began crawling up the stairs very well and he is very close to having all the confidence he needs to crawl down the stairs too.  He started saying Mom about two weeks ago, which of course makes me very happy, and recently he has started liking basketballs, footballs, soccer balls and more. Isaac's ears were good when the E.N.T. saw him again and after a hearing screening they said Isaac's hearing is also good. Isaac's eyes continue to water and gunk even after getting the stents put in for a time and then taken out but not as much as they use to so we will continue to watch them closely and we are postponing the procedure called Dacryocystorhinostomy for now.  There is fortunately still hope that Isaac will grow into his wide nose and his tear ducts will not be pinched as much as they are now, therefore avoiding the Dacryocystorhinostomy procedure all together.  Isaac has started getting use to his glasses and only takes them off to chew on them when he is bored of sitting (hence we take them off when he is eating or sitting in the car).   After going to his swallow study test, we were told Isaac can eat 3 to 7 bites of soft foods (the size of our pinky nail) and he can drink 3 to 5 ml's of liquid through a syringe very slowly per day. This was exciting as on Isaac's 2nd birthday he was able to have a little bit of a brownie and some ice cream. We saw an Immunologist and after many tests, Isaac's Immunologist said Isaac is not allergic to anything and he does not have an immune problem.  He told us that Isaac's structural issues are part of Isaac's biggest problem and cause him to get more sick and stay sick longer than most kids.  The Immunologist also told us that Isaac is safe to travel but we need to remember that he is still very young and he is still building up his immunities.
             With the information from the Immunologist I thought, "Great! We can travel, keep Isaac safe, and everything will be great!" I really did think it was safe to travel after this conversation with the Immunologist so we planned a vacation to Washington. But now for all of the bad news... no more than two weeks later Isaac got very sick with the flu, the common cold, and the Adenovirus all at the same time.  He was admitted to the hospital where he was put on 6 liters of oxygen to help him breath smoothly and he slept for three days straight as he had no energy to even sit up.  After almost a week of being in the hospital Isaac was able to come home on 1/2 a liter of oxygen day and night. We obviously canceled our trip to Washington and in the last month Isaac has been able to come down on his oxygen a little during the day, but we cannot get him off of it completely nor can we bring him down on his oxygen at night. I'm sure God stopped us from going to Washington knowing all too well how Isaac is right now and how careful we need to be with him. I was in denial as I so wanted to visit family in Washington but thankfully I have good friends and family who helped me to understand that now is not our season for traveling and we just need to keep on moving forward.  Isaac's pulmonary Doctor said he will probably do another bronchoscopy soon to check Isaac's lungs since he is having such a hard time coming off the oxygen.  Isaac did go through the sleep study before he got sick and they found that his heart rate drops during 9 pm and 12 am to as low as 41 and then between 2 am and 5 am his oxygen drops significantly as well.  He has a small case of sleep apnea when his oxygen drops early in the morning and no one knows why any of this occurs.  Isaac is either plateauing in weight or losing weight so the GI Doctor and the Pediatrician have tried increasing Isaac's G-tube feedings but his stomach is distending too much despite our constant actions to vent him. We are in the process of changing his diet to a more natural diet and hopefully this will help the distending of his stomach but in the mean time a big meeting has been arranged between all 21 of Isaac's Doctors and therapists to figure out what they all need to do and what procedures need to be done next.  Isaac's pediatrician said quote, " Nothing about Isaac is normal." So we will continue to press forward and be grateful for the areas of development Isaac is doing well in.  
           

          We went in for Isaac's surgery and everything went very well but we may have more difficult procedures ahead depending on the results of the procedures. 
          We should have results of the CT scan in a couple weeks regarding his lungs.  At the last minute they decided not to check his heart with the CT scan as they want to do a night study that will check his heart in a better way.  I don’t know exactly what they are checking with his heart right now as I believe there are several things they are looking at, but his heart rate keeps dipping into the 50’s, 3 to 5 times a night and the doctors ( as well as my husband and I ) are concerned about it.  During the night study they will also check his oxygen levels to see where they’re at while he sleeps.  The date has not been set for the night study but it will happen soon. 

           As for his ears, the tubes (tympanostomy tubes) were put in successfully but not without much cleaning first.  Isaac’s ear drums were very inflamed.  The E.N.T. said that one’s ear drums should be paper thin, but Isaac’s were very thick and full of pus.  After releasing the pressure and cleaning both ear drums the E.N.T. put in antibiotics and the tubes.  In one month the E.N.T. wants to see Isaac again to check his ears.  He said there is a possibility that the ear drums will fill up with fluids and mass from the same or another ear infection and if this is the case Isaac will have to go in for surgery again to re-do the tubes in his ears.  We are in strong hopes that in a month Isaac’s tubes will be clean and his ears will be better.  Then we can move forward with the hearing test. 

            The eye procedure that was done on Isaac yesterday is called stenting or intubation.  This process simply puts a small tube into his tear duct to keep it open and allow his tear ducts to drain correctly.  Unfortunately they have realized that the bone in Isaac’s nose is very wide and is pinching his tear ducts closed.  Because of this the stenting procedure may not work and Isaac will then have to go through a procedure called Dacryocystorhinostomy. This procedure is very painful as they have to remove part of the bone to make way for his tear ducts.  For this reason I am praying his procedure done yesterday will work. We will see the Ophthalmologist in a month as well to assess the results of his procedure. 

This road has been a long one for our whole family, but through it all we have grown and it's all because of our Little Isaac.

 

        I've never written a blog before and Isaac's history is so lengthy that I hope I don't lose you in all of this, but I will not write EVERYTHING and I am writing this blog to help people understand what has happened in the last 20 months from the time Isaac was born to now.  I do not wish for people to feel sorry for us, but I know people want to know what is going on and in writing this I not only inform you, but I create a journal entry that hopefully Isaac can keep for the rest of his life; learning how amazing he is and how much our Heavenly Father loves him.
            From the day Isaac was born he began to struggle. But in all of God's wisdom, Isaac was given the strength to live.  During the first hour after Isaac came into this world, nurses were scrambling while 9 other babies were born at almost the exact same time.  Isaac was one of the last infants to be seen, and since we were both so exhausted, I asked the doctor and nurses if I could just hold him on my chest while we waited.  All I wanted was to be close to him. Little did I know that having him on his stomach was saving his life. It wasn't until a nurse came to take his vitals and put him on his back that she realized he stopped breathing.  Without a word the nurse took him out.   An hour later I was informed that Isaac had stopped breathing three different times and had to be resuscitated. He was not allowed to be put on his back as this would cause him to stop breathing and turn blue.  I went to him immediately and was told he would stay in the NICU the remainder of his stay at the hospital.  Little did I know this was only the beginning of Isaac's struggles.  Within a week and with some accomplished goals we were finally able to bring Isaac home. The very next day I began the first of many doctors appointments.
             The doctors thought he had Pierre Robin Syndrome but this was ruled out quickly as Isaac began to grow into his jaw.  A cranial specialist sent us to an E.N.T. as Isaac began making a short high pitched squeak.  A lot of people thought he had the hiccups but we knew better and soon learned that this was what doctors call stridor.  Stridor meant that Isaac was using every ounce of strength he had to breath.  Already on a monitor at night we fought to get him on oxygen at all times as the stridor got worse.  The E.N.T.  diagnosed Isaac with having Laryngomalacia.  This is caused when a baby has immature cartilage in the upper larynx and it flaps down cutting off air supply.  After other attempts to stop the strider with prevacid Isaac got sick and breathing became harder.  At 2 months old the E.N.T. said he had no other choice but to do a surgery called Supraglottoplasty.  This would open up Isaac's Larynx and therefor give Isaac the open airway he so needed to breathe.  It took him a while to recover as his body was very weak and in a lot of pain, due to the surgery.  He didn't want to eat for several days and we had several scary moments where he would choke and gasp when trying to eat but he eventually began to eat again and came off the oxygen within a few weeks of the surgery.  This whole time I cried and prayed often that my little boy would survive and as many people prayed too I could feel angels watching over Isaac. This helped me to sleep a little more at night during this difficult time.  After about a month Isaac began smiling.  I was so excited to see him smile. I continued to take Isaac to a couple of doctors and he gained a little bit of weight, but he still had what doctors call low muscle tone so he couldn't lift his head up nor was he even trying to move at all. Something didn't seem right but we kept moving forward with hope that Isaac would be completely better now that he had surgery.
            Isaac had several good months of progression but in February of 2014 Isaac got sick with RSV and was put back on oxygen.  Week after week for several months I went to our primary care doctor to see if Isaac was well enough to come off of the oxygen but to our horror Isaac got pneumonia as well.  His oxygen levels became worse, but his primary doctor could not figure out what was wrong, so he got us into a pulmonary and a GI doctor. Both of these doctors were from Rocky Mountain Hospital for Children.  The pulmonary doctor said Isaac was by far his worst patient and put him on 6 different medications in one day.  He also wanted to do a bronchoscopy and a biopsy of Isaac's throat.The GI doctor diagnosed Isaac with chronic constipation and said that he needed to do an endoscopy to find out what was happening inside Isaac as well. Both the pulmonary and the GI doctor set up a day to put Isaac under anesthesia and find out what was going on.
           Isaac, at 12 months old, weighed 14 lbs 10 ounces, and he was still fitting in 6 to 9 month old clothes.  He could roll over but he could not sit up or crawl in any way.  I began to see many differences between other babies around Isaac's age as the other babies were starting to walk and my son just barely started holding his head up.  I got Isaac into physical therapy at Children's Hospital with the primary care doctors help. For Isaac’s first birthday he stuffed his face with cake, being my first child to do this.  I took lots of pictures.  We were all so excited for him to make it to a year.  All of his extended family, that lived close by, came to celebrate with us in this joyous occasion.  We celebrated his birthday a couple days early as he would be going through the procedures that the Pulmonary and GI doctors set up one day before his birthday.  On the day of the procedure they put him under anesthesia and we found out that, he had candida (a yeast infection) all over his throat. His larynx was inflamed even more than when he was born and the pulmonary Doctor couldn’t understand how Isaac could breathe at all. The GI Doctor put him on medication and we were told Isaac could not eat anything thinner than a honey like consistency as he was aspirating all liquids. Isaac also had severe acid reflux, but we never new it because it was silent, which meant Isaac never spit up /threw up and he never cried. Isaac's temperament had always been amazing as he smiled a lot but never cried.  He also never laughed but he was my happiest baby. This was wonderful but it made it hard to figure out when and what was wrong with Isaac. I came to understand what a blessing it was to hear my babies cry when something was wrong or they needed something.  Our ward at church was amazing as they brought in meals for our family, set up babysitters for our daughters and gave us emotional support. I took him in to see his primary care doctor for his follow up appointment and one year old check up.  His Doctor diagnosed him with failure to thrive. He told me he was going to send us to a pediatrician at Children's Hospital where a team of doctors would all wrap their head around Isaac's condition of health and figure out what was wrong.  This was all a shock to me as I thrived on consistency and didn't want to lose the only doctor Isaac had had from birth, but it also gave me comfort amongst all the emotional stress of what was happening to Isaac.
           With our family needing some well deserved vacation time we left to see my parents in another state with permission from 3 different doctors. They said Isaac should be fine as he was on medication, had oxygen, and we were going to a place with lower elevation so he would be able to breathe better.  While there we enjoyed being around family and not having so many doctors visits but this was short lived when Isaac aspirated some food and had to be hospitalized.  Within the same vacation he got pneumonia and had to be hospitalized again.  While at the hospital we figured out he was loosing weight very quickly.  Being as how he was one years old and had bad rashes due to Eczema, I had switched him to almond milk witch seemed to rid him of his rashes.  Because the almond milk did not have a lot of calories though we also fed him high calorie foods like avocados, but he still continued to lose weight. I tried giving him PediaSure to give him more calories than the almond milk and other food could provide but then he stopped eating all together.  I couldn't figure him out so when we got back home I took him to his new pediatrician at Children's Hospital right away.   She, being the wonderful doctor she was and still is, jumped into Isaac's life and began ordering tests, other specialty doctors, and making a plan of how to help Isaac gain weight. Two days later though, while taking Isaac in for a swallow study test at Rocky Mountain Hospital for Children with his speech therapist, I asked if we could admit him as he was lethargic and too weak to hold his head up.  It was at this point that Isaac was admitted and later received the G-tube, and a Nissen.  The G-Tube would help us to get Isaac all the nutrition he needed with the highest calorie, most hypoallergenic formula there is today and the Nissan would prevent any acid from going up his esophagus ever again. They also found and fixed a hiatal hernia while he was in surgery. 
          For the next year Isaac was placed with all sorts of different specialty doctors.  He had a dermatologist for something called Molluscum on his chin. We found out this meant he had a low immune system.  Isaac was also set up with amazing therapists for physical, occupational, and speech therapy.  They  came and still come to our home every week to help Isaac. Within the year Isaac was also placed with an Optometrist and an Ophthalmologist for his consistent teary / gunky eyes and he was diagnosed with very poor eye sight. He got glasses right away to prevent him from losing his eye sight more. He was given a new E.N.T. specialist as the other E.N.T. specialist moved and in the process Isaac underwent more procedures to try and figure out why he had and still does have so many ear infections and why he still could not come off of the oxygen while sleeping.  He got a cardiologist as recently Isaac's heart rate began dropping very low and being irregular. They also figured out he has an irregular shaped heart and there may or may not be more problems with it.  Isaac was sent to 2 different Geneticists who began checking him for a syndrome. In the process of checking for syndromes the doctors found he did not have MPS (Mucopolysaccharidoses),  BUT... For the first time in almost two years we found out last week that Isaac has a syndrome called Cornelia de Lange Syndrome.  This syndrome causes all of the many health problems Isaac has had and sometimes causes more severe health problems.  Our family is so blessed that Isaac was not missing limbs when he was born as some other children are who have this syndrome.  We are also very blessed in that this syndrome is not a progressive syndrome where things will continue to get worse and worse.  We found out that kids with this syndrome have their own growth chart because they grow at such a slow rate but they all fall within a general range.  Isaac is in the 80th percent tile. For the first time I have hope that Isaac can eventually get better and move forward.  He does tend to take two steps forward and then one step back with his health and currently he cannot eat or drink anything as he is aspirating everything but he has learned how to crawl on his hands and knees.  He is also working very hard to climb up the stairs and pull himself to standing.  He is very proud of himself when he can do something new and he absolutely adores his sisters who are always there to play with him and doctor him when he needs them.  Our family has learned so much about how much our Heavenly Father loves each one of us. We have seen miracle after miracle in Isaac's progression to be healthy and strong.  Isaac continues to get sick often as his immune system is very low but he is a fighter and never gives up.  In regards to the facial characteristics that Isaac does relate with in the Cornelia de Lange syndrome; he has two long thumbs that are set back on his hand, he has bushy eyebrows and his nose is said to be slightly flared. His skin has a purplish marble looking tone to it and his pinkie fingers are always curled.  He has very long eyelashes and he has a lot of hair in general.  Now that we know he has this syndrome he will get an Immunologist Doctor as well as a Nero-psychologist.  Our friends and family were and still are here for us constantly.  We really could never have gotten through this without them.  We have been so blessed.

           I will try to stay on top of this blog if people continue to want to know what's going on.  This coming Friday he will be having surgery to put tubes in his ears (because of all the ear infections) and he will be getting stents put in all of his tear ducts due to his eyes watering through out the day and getting gunky. He will also be getting a CT scan to check his chest, lunges, and heart.  And he will have several tests done to check his immune system again.