Our Nathan

First steps!

2009-07-21T19:05:00.000-07:00

Almost 22 months

Nathan took his first real steps tonight! He was standing near my son Benj by a rocking chair and took two steps to me on the bed. So, of course, I shouted for Ben and the rest of kids to come watch. We proceeded to take the next 20 minutes making him walk from person to person. Each of the kids wanted to be a part of this great moment. So he kept walking and falling from one person to the next. We are so excited to see how much he wants to walk. From my experience, once Nathan wants to do something, then we really see progress.

This morning I was discussing how to help him learn to walk with one of his therapists. We are currently trying to figure out why he loses his balance. There are times when he falls over really hard on his head or just decides to lay down from the standing position by falling straight forward or straight backward. He often loses his footing. As you can imagine, this causes all types of bumps and bruises. He seems to have a high tolerance for this type of pain. (We are currently contemplating some type of helmet for him.) So I spent all morning discussing little things we can do to help him learn to walk. Then tonight, he just takes off and walks 2-3 steps at a time. What fun!

Nathan favorite activity is stacking. He will stack DVDs, magazines, his toys rings and blocks. He is so funny as he goes about it. He likes to stand with his feet flat on the ground and balance with his forehead on the ground in a V position. (Test your flexibility and try it.) Then he can use both hands to gather toys and stack them underneath him. It is quite funny to watch him as he moves around the room gathering toys in this position. As I told you before, he crawls all the time now. Lately he has been really gaining speed as he moves in the bear crawl, with straight legs and arms.

He has also been able to do so many thing with toys that he has never done before. Nathan would never let go of any toy that he enjoyed. Just this month, he learned to drop a ball at the top of a ramp to watch it roll down and then get the ball to do it again. He has another toy where he drops blocks down the hole and then finds the blocks on the tray underneath. Nathan seems to enjoy more complex toys now. A couple of his therapists starting to call him their "Little Einstein" because he is refusing to have anything to do with toys that are too easy. Always makes a mother proud.

There are many toys that are hard for Nathan to work because he has poor fine motor skills. He still has difficulty picking up things in a pincher grab using his pointer finger and thumb. He also has difficulty with anything where he needs his hand to be flat. When he runs into trouble getting a toy to work for him, he comes up with a new solution. He was having a tough time getting a lever to make Elmo pop up in a jack-in-the-box type of toy. He just couldn't push hard enough with his fingers. So he picked up a stacking ring and began hitting and pushing on the lever until Elmo popped up. Then he grinned, so very pleased with himself.

Nathan can eat most foods now except for really hard foods like carrots. This makes life so much easier. He still drinks mostly from a bottle. We have been trying to help him learn to drink from sipper cups. He likes to throw them against the wall and watch the juice run down. I don't like this nearly as much as he does. So we taught him how to drink from a straw last week. He actually picked it up in one night. We were using one of the cups with a straw that doesn't drip. It is awesome. I need to find some more of those.

For the last 8 months, his vision therapist has been trying to get Nathan to pick things up and put things in a bowl. He just refused to do it. Since his stacking mania began, he has really improved this talent. In fact, now he is just plain trouble. He loves stacking things in his dump truck. However, the bowl that he likes to put things in the most is the toilet bowl. He likes to play in the water. He goes and gets the kids toys and books to throw them into the toilet. So we taught the kids to make sure that the toilet seat was always closed. This only took him a day or two to figure out. Soon he had that lid resting on his head while he was playing in the water again! Ugh. I swear he can hear the bathroom door open from anywhere in the house. Closing the bathroom doors at all times is a must in my house. Wait until he discovers that the toilet paper unrolls. Good for development but not so good for my sanity.

Today, he finally figured out how to start down the stairs. For the last few months I have been turning him around and getting him onto the top step. Once there, he could go down the stairs with ease. He just couldn't seem to start. Now he is no longer stranded when he crawls upstairs.

Nathan has been practicing standing all the time. Today, I caught him standing near the tub without holding on for about 20 seconds. He is getting really strong.

It is so fun to see him actually on the growth charts. We are on a vacation from doctors. I do need to take him into the pediatrician soon. He was supposed to go in for an sedated echo cardiogram to check on his heart last week. He was really congested from a bad cold, so we ended up cancelling it. We couldn't reschedule until the end of October. We are fine with this postponement since we hate to see him sedated. Breathing becomes so difficulty for him after anesthesia. So we will put that off for a while.

I just had to share all of his great achievements.

Tara

Glasses

2009-04-07T15:15:00.000-07:00

18 months

We just got back from our appointment with Dr. L, our ophthalmologist. I have been looking forward to this appointment for a long time because his eye contact and object tracking have improved so much. Dr. L said that Nathan is just about caught up to his age.

His farsightedness is a little worse, so Nathan is going to need glasses. He has +8 in his left eye and +9 in his right, I think. This should help him as most activities are close up at this age. It will be interesting to see if glasses alter some of Nathan’s behaviors. I am hoping that with glasses he might pick up on some ASL signs that we have been doing, or some communication cards that we are going to start. So far, we don’t have any real way of communicating yet.

Nathan also might not have Cortical Visual Impairment (CVI). It may be that he was just developmentally delayed and now is getting more on track. The doctor will give us more of a diagnosis after our next visit. By that time, we should be able to assess how he is doing with glasses and any behavioral changes that might have occurred.

So next week, the battle of the glasses will begin. Rachel also started wearing glasses around 18 months. She was terribly stubborn about not wearing them and we had quite the battle. Now we battle to get her to take them off when she goes to sleep. We will have to see how Nathan likes being able to see. The good thing is that this time around, I have many hands to help me continually put the glasses back in place.

Crawling and other achievements

2009-03-31T18:14:00.000-07:00

March 31, 2009 – 18 months

It has been a little while since I last updated this. Nathan has been doing fantastic and hasn’t been in to see any doctor for about two months. I think that this must be a record. We were supposed to visit the eye doctor but missed the appointment due to our car's faulty ignition switch. It works about 80% of the time and then just doesn’t work. Yes, it is definitely on the very long list of things to do.

Last time, I told you how he has been getting up on his hands and knees. He progressed from rocking back and forth to actually crawling a foot or so by the end of February. Most of this month, he has spent practicing crawling. He would crawl three or four feet when he was crawling to the stairs. He uses the stairs to help himself sit up and he likes to just play on the bottom stair. He also would crawl when he was headed to the couch. Nathan puts his back against the couch and then uses his feet to push himself back and up instead of pulling himself up. I didn’t realize how hard that is to describe until I was just writing it down. This causes problems since he thinks that he has to push backwards whenever he is standing. For the past couple of weeks, I have been trying to get him to stand without something behind him to lean against. Now he can crawl all the way across the room. He tends to bulldoze a little but will look up now and then, especially when you are talking to him. He is scooting on his back less and less each week. I think that he is realizing that crawling can be just as fast as scooting on his back. Hurray!

Yesterday, Nathan was amazing. He was at the bottom of the stairs and started to push himself up to the next stair. He made it to the second stair which he had done once before. The kids and I were in the kitchen watching him. He began to push up to the next stair. Before long, he had climbed up all the stairs. We would then show how to crawl down the stairs, helping him to move his arms and legs to the next step. He thought this was a great game. So we spent the day going up and down the stairs. Thankfully, I have fantastic kids to help or I might have gone a little crazy. Benj was especially great at helping Nathan learn how to go back down. Rachel, AJ, and Emma were great at guarding and making sure that he didn’t fall down the stairs on his way up. We are a bit frantic to teach him how to go back down since we have 5 flights of stairs in our small home. Nathan is now officially dangerous!

He still loves his jumper but won’t stay in it as long because it hinders his mobility. He doesn’t love the walker that Kids Who Count brought because it is difficult for him to stand. I am going to have to see if there is a better one out there. We never bought a walker for the other kids because it seemed like it wasn’t worth the money for the short time they would use it. I guess it is time to investigate them. I don’t expect him to be walking too soon but he is really making great progress.

He wasn’t babbling much for a while but lately started up again. His favorite thing to say is “Mum, Mum, Mum.” It is similar to the sound he has made since he was an infant when he cried. Often when I say it to him, he will start babbling back. This is great news because it is a step towards learning to speak.

My only complaint is that Nathan’s sleeping schedule is all off. He is teething. On the right side, another tooth has come to join the middle two. He is also getting a molar on the bottom right. He gets a little pouty and wants to be cuddled a lot more. He is pretty great about it. Personally, I wouldn’t want to get teeth in for the first time either.

Besides crawling Nathan has a few new things that he loves to do. He LOVES to push the buttons on the TV which frustrates the kids to no end. He also likes to put small toys on his face and roll them up to his nose then back to his mouth. At times, he darts his tongue out to taste his toy. His therapist thinks that he might skip the “put everything in his mouth” stage because he doesn’t like to put anything in his mouth. I am okay with the licking if we can avoid the choking on all the other kids’ toys. It is so hard to get them all to take care of the little toys like the Magnetics that seem to be everywhere at times.

My favorite thing that he does is he gives me kisses and snuggles into my neck. It is the cutest thing and makes everything else in life okay. He is my little darling.

Follow-up, Endocrinologist, & January 09

2009-02-01T13:29:00.000-08:00

2/1/09 Surgery follow-up, endocrinologist and January accomplisments
Nathan is 16 months old.

Doctors Update: Nathan was taken off oxygen a couple of days after I last posted. He hasn’t needed oxygen since then and his SAT stayed at 93 which is acceptable.

We saw the urologist at the beginning at the month for a follow-up after surgery. Nathan has a fluid sac (hydrocele) that Dr. W is hoping will just go away. We will watch it for the next 6-9 months and then make decision about whether to go in to drain it. Right now, we both agree that we would rather not seem him go under anesthesia any time soon. So we are just waiting.

We met our newest doctor, the endocrinologist, this last week to discuss Nathan’s growth and hypoglycemia. Dr. D wants to just wait and watch how Nathan grows for the next 6 months. We only need to worry if he stops growing for 3-4 months at a time. I am excited to report that he has gained 3 pounds and grown 2 inches in the last month! He is up to 20lbs and 4 oz as of the 28th. (Yes, I am developing incredible arm muscles!) As for his hypoglycemia, Dr. D just wants us to make watch his behaviors when he hasn’t had food and be especially careful when he becomes ill. If he becomes lethargic, we are to take him to the hospital to check his sugars and get them raised again.

So we are in the Wait and Watch mode for the hydrocele, atrial septal defect & enlarge aortic root, hypoglycemia, cortical visual impairment, and everything else that I have currently forgotten. This is a great place to be. As of right now, Nathan doesn’t have a single doctor’s appointment for February which is fabulous.

Progress: We have been very excited about Nathan’s progress this month. First, he has become an extreme bouncer. He is standing in the bouncer for at least a minute and will jump for at least 30 minutes. He even whines if you take him out when he is having fun. His legs are getting much stronger and he jumps like a madman. He can move his bouncer up to two-three feet when he really gets going. His smile is contagious and no one can walk by him in the bouncer without making a face and laughing with him.

Nathan’s babbling has been increasing in frequency and quantity. One night when Ben and I were upstairs, Ben asked who had called, “Dad.” It was Nathan downstairs. Before you get excited, he doesn’t mean to say anything particular yet but he is saying many new sounds. He enjoys babbling to himself and will often babble away at night when he gets tired.

The most exciting improvement is that he is now getting on his hands and knees, and rocking back and forth. This is the first steps before crawling! You have to understand that I have been putting him in this position almost every day for the past 10 months trying to help him to learn to crawl. When he is in this position, he is actually looking at us and smiling.

He is able to sit for longer periods without falling. We are currently trying to teach him how to lean forward to slowly get out of the sitting position. He typically arches backward and has to have pillows or a blanket behind him at all times. He likes to sit and play with his cars, balls and other toys.

We are also working on helping him to learn how to put food in his mouth. He has learned how to chew his food and we can now feed him food that has been through the baby grinder.
Favorite activities: Currently Nathan loves to play in his bean box. It is just a plastic tub filled with beans. We can hide a toy and then he will find it. He is also learning how to roll cars and play with balls. It is fun to roll the ball back and forth with him.

Note: Music to the video was chosen by the kids.

Nathan's 2nd Hernia Surgery & Kosta Koufos

2008-12-14T14:07:00.000-08:00

12/14/08 – 14 ½ months old

Friday, Nathan had surgery to repair his inguinal hernia that reappeared at the beginning of July. The urologist believes that he may have a weakness in his abdominal muscles. So he folded over some of the muscles to strengthen the area. He found a sac of fluid in the scrotum also which he drained. The vas deferens on the right side (I believe) was damaged but the other one is healthy. Nathan is recovering well from the surgery and doesn't seem to be experiencing much discomfort.

We talked to the anesthesiologist about Nathan’ struggles to breathe the night after he has had anesthesia. After watching how he responded to the anesthesia, they recommended that he spend the night so that he could be monitored. Ben ended up going home and picking up the kids. I stayed at the hospital with Nathan.

Nathan seems to require more oxygen while he is sleeping and often doesn’t need oxygen at all when he is awake. The oxygen had to be adjusted each time he moved. So I basically didn’t get any sleep during the night. Saturday, they ended up sending us home with oxygen.

Today he is requiring more oxygen, even when he is awake. We will probably run out of oxygen before the end of the day. The on-call pediatrician is encouraging us to go to the ER. I think that he just needs a little more oxygen and don’t believe that he has anything else wrong with him. However, I can’t write the order for more oxygen, so I guess we will be going in when Ben gets back from church. (The kids and I are avoiding everyone in an effort to keep illness at bay while Nathan gets healthy again.)

On a fun note, Kosta Koufos, two cheerleaders, and a coach from the Utah Jazz visited us while we were waiting for surgery. They gave us a signed little basketball for Nathan and took a couple of pictures with him. It was a great diversion – especially since our surgery had to be bumped back 2 ½ hours for an emergency heart surgery. Nathan was struggling a little with this since he had been fasting for 14 hours.

Update: We ended up going to the ER. They took chest X-rays and found some cloudiness which could indicate pneumonia or a bad cold. They want to observe him overnight, so we are back in the hospital again. His oxygen levels are actually doing pretty well, though they have taken a bit of a dip as he headed off to sleep. Now if we can only get him to wear the nose tube and not rip it right off like he has been doing all day, I will get some sleep. Ben went home to rescue our wondeful friends from babysitting our kids all night long. We are feeling blessed.

November 2008 Hypoglycemia & Growth Hormone Deficiency

2008-12-14T09:33:00.000-08:00

11/10/08 13 ½ months old

The whole family got the flu. It was of the very nasty variety. Nathan caught it and just couldn’t keep anything down. This was typical for what everyone was experiencing, however he became extremely lethargic. He just didn’t move at all, and seemed almost like a newborn. We began giving him liquids in a dropper, and a spoonful of food every half hour to an hour. When that finally started going down, we began giving him about 2 oz of formula. We were using one of those tiny bottles you get at the hospital when your baby is born. With such a small bottle, I thought that he might be able to hold it himself. So we began working on it. He learned to actually hold his bottle. As he became better and the bottle size slowing increased, he was able to continue holding the bottle. Ben and I are very excited now because he can hold his own bottle!

I took Nathan in to see our pediatrician because I was worried about how much Nathan had lost while he was sick. He hasn’t been gaining weight for the past few months and sickness just made it worse. We have been working on try to control Nathan’s reflux, which may be causing the excessive sweating during eating and his breathing difficulties. The doctor recommended draw blood to check his thyroid, and a number of other things. Everything came back fine except for a low blood sugar reading – glucose 48. We thought it might be a false reading so we went back for another simple sugar test. It was low again (58) showing that he is mildly hypoglycemic.

Yesterday, I took Nathan to the hospital lab so that they could draw blood again for 8 more lab tests and several urine tests. We hope to find out what is causing his low blood sugar. They had to draw his blood three times to get enough. Poor little guy. It was a miserable couple of hours at the hospital. Now we just wait. By Friday, we should have all of the results.

11/24/08

Well, I just got a call from the pediatrician’s office to set up an appointment with the endocrinologist at Primary’s. His blood sugar is still low at 68 but that is the low normal range. The pediatrician thinks that he probably gets hypoglycemic when he is sick. We will have to monitor him closely whenever he gets any dehydrating illnesses. If his sugar gets too low, he will have to be hospitalized. They also found that he has a growth hormone deficiency. We will find out more when we go to the endocrinologist in January.

October 2008 -- Echo Cardiogram

2008-12-14T09:31:00.000-08:00

October 24, 2008 – 13 months

Today Nathan had an echo cardiogram done. We had planned on getting it done with his surgery planned in December. He has been showing some problematic symptoms lately so they wanted to do the echo before the surgery. He has been sweating a lot when he eats and also having some difficulty breathing. Good news. The whole in his heart is looking smaller. The cardiologist said that most likely, they will not have to do open heart surgery to close it. Also, there is a slightly better chance that it will close on its own. The anesthesiologist told me that Nathan’s airway is a little small for a child his age but then, so is he. This is something to keep in mind to tell the next anesthesiologist. He ended up having a bit of difficulty breathing and they had to give him a steroid. He was breathing well 3 hours later when they finally let us go home. That night, however, his breathing was labored and I ended up staying up most of the night with him.

September 2008

2008-12-14T09:28:00.000-08:00

Tara -- September 9th – 11 ½ months old
We went to see the ophthalmologist today. Nathan isn’t doing as well as he had hoped. Based on his behaviors and the fact that he isn’t responding to the special cards they use to test babies at this age, the doctor feels like he has a neurological problem with his vision. Our vision therapist who came later today, told me that this is most likely Cortical Visual Impairment. This means that he can see just fine physically but his mind has difficulty interpreting the information that it is receiving. This may be why he likes to scoot on his back and do handstands to look at the world upside-down.

September 28, 2008 – One year old
I am constantly amazed that a whole year has passed with our little Nathan. He is such an angel. We ended up just having a small family birthday party. The kids insisted on continuing the chocolate cake tradition. So I baked a small cake for Nathan, and then decided to make a small cake for each of the kids. We put a candle on each of the kids’ cakes and asked them to make a wish for Nathan. We had a great time. Nathan accidentally got a bunch of frosting on his hand and then spend a good deal of time staring at his hands and wiggling them around. I fed him a bit of the frosting since he still is having such difficulty swallowing anything other than smooth foods. He like it! It was the most sugar that he has ever had. :D It ended up being a very special birthday for everyone.

July 2008

2008-12-14T09:24:00.000-08:00

7/2/08
Nathan is 9 months old! Wow! Time really does go so fast. He is doing great. For the last week, he has been playing a lot with the soft crinkly plastic wipes container. He will see it and then move to it. When he gets close enough, he will reach out and grab it. He pulls it onto his chest to play with it. This is awesome. He is showing us that he can see things, and can concentrate on that object until he reaches it and then plays with it.

Another new toys he loves is the basketball. It is a regular size ball that the kids left out after we were shooting hoops at the local school. Nathan saw the ball and scooted on his back to it. He arched and hit the ball. It rolled of course. So he scooted on his back until he was closed he enough to hit is again with his hand. I want to get him his own smaller ball to play with soon.

He still hasn’t made much progress on sitting up. He still hates it with a passion. We are trying to him the cellophane paper that he loves only when he is sitting up. This helps him concentrate on sitting and enjoy the experience a little.

He is able to stay on all fours and raise his head up for a little longer this week. I am encouraged that that crawling will help him with his scooting on his back problem. He likes to be mobile.

Nathan’s giggle is so cute. He has a little squeaky belly giggle. I haven’t been able to get it on tapes yet but it is so cute. He still just squeaks instead of making real sounds but he tends to squeak when he wants to talk to us. He also makes a “hum/sighing” noise when he is putting himself to sleep.

Tara - Jul 17, 2008 9 ½ months old -- Cardiology Well, we had our cardiology appointment today. Our doctors wanted us to have an echo cardiogram just to make sure that nothing was wrong with Nathan's heart. Due to Ben's entertainment, Nathan was still enough to get this done without getting sedated. We come to find out that Nathan is doing great, and we don't have to worry too much. He does have something called a moderate atrial septal defect. This is a hole that should be mostly closed off about two week after birth. They tend to find this sort of thing when a child is about 3. She said that it might just close by itself over time. They may have to do a procedure where they go up through the leg and insert a clam-shaped thing to close it off. She wants to just monitor it for now and will do another echo on Nathan in December. She also found a mildly dilated aortic root which she wants to watch. Overall, she said that this is something to watch but not worry about. :)

June 2008

2008-12-14T09:12:00.000-08:00

6/9/08

Life with Nathan has been so special so far. He is about 8 months 1.5 weeks old now. He still struggles to hold his head up. He still struggles to pick things up and doesn’t always look at what his hands are doing. He has so many therapists. His second tooth broke. So he has his two middle bottom teeth in. He has stopped biting me which is nice.

6/11/2008 – 8 ½ months old
Nathan has been sick for the past two days. He got a fever Sunday night and has a horrible cough. It reminds me of when I spent my nights listening to him right after he was born. His breathing is so raspy but then I worry when I don’t hear it. Funny how that is. We get so comfortable with something bad that we worry when it isn’t there. He threw up for the first time this morning. It must have made his tummy feel better because he gave me the biggest grin right after. I was glad that it didn’t scare him. I

6/23/2008 (9 month in 5 days)
Nathan has been able to get onto all fours lately. He balances on his hands and his head, then scoots his legs up underneath him. He still has difficulty lifting his head while he is lying down. He does lift his head for about 30 seconds before dropping his head back to the floor. He isn’t making any forward motion, at least not on purpose.

Since Nathan is at the scooting stage, we let him play mostly in the family room where we can keep the door to the basement closed. With a house with four sets of stairs, it can be a bit tricky to make sure that he doesn’t take a tumble down a flight of stairs. So he spends a great deal of time in the family room. The kids and I often are in there anyway. I can also look down at him while I am in the kitchen which makes things easier too.

Nathan has found several favorite places in the living room. He loves to scoot over to the couch and scratch the fabric on the couch. It makes a cool scratching sound that he seems to enjoy. He also likes to scoot over to the window, and drag his had across the glass so that it squeaks, or play with the curtains. He enjoys different textures. He can also find his toys to play with as he scoots around. Just this past week, he seems better able to pick up his toy off the floor when he is on his side and then roll onto his back to play with it. He is also grabbing the toys with both of his hands. One thing that he loves to grab are the cords to the PlayStation II. The Playstation always seems to be out and he loves to scoot over to it and get his head under the cords. This can be a little dangerous since he likes to wind the cords all over him.

Nathan still arches a lot. Sometimes this makes him difficult to hold. At other times, he can be such a cuddly baby which makes up for the arching struggle. He will look at you and then curl up on your shoulder. He loves to be held and played with. He is a very social little guy. When he catches your eye across the room, he will smile. When he is on his back, it is much easier for him to watch and smile at you. When he is sitting, he has more difficulty seeing things and noticing you. He still smiles at you, just not as well.

The kids are amazing with him. He couldn’t ask for better siblings. They are always playing with him or helping him out from some place he scooting into. It is never good to be stuck under the couch or on the sharp edge of the TV stand. They are also great in talking to him and playing with him while I am working on something else. Each seems to really take responsibility for him and watch out for him. Emma especially love to play with him, and hates it when he is taking a nap because she can’t play with him. “Nathan is awake. Now I can play with him.” she often says. I have the most amazing kids.

April 2008 - Partial Trisomy 16p

2008-12-14T09:07:00.000-08:00

Tara – Apr 18, 2008 6 ½ months old Nathan's Genetic Results

We got Nathan's result from his genetics test. He has Partial Trisomy 16 p. This is a partial duplication of part of the short arm of the 16th Chromosome, giving him three instead of two part of that section of the chromosome. I am sure that you are asking, "What does that really mean?" So far, we know that Nathan will be affected physically, and mentally but only time will tell how much. He is truly unique. :)

Trisomy 16 is the most common chromosomal cause of miscarriage as it is imcompatible with life. (Chromosome disorders cause more than 1/2 of all miscarriages, and Trisomy 16 occurs in more than 1% of all pregnancies.) Partial Trisomy is an extremely rare chromosomal disorder, as few infants survive until birth with additions or deletions on the 16th chromosome.

Since it is so rare, it is hard to find information on it. Trisomy 16 has been linked to autism, ADHD, seizures, learning difficulties, and a few more things. Whether he has to deal with this depend on the region that is duplicated. For instance, the autism is linked to a different section than Nathan's duplication, so I am hoping that won't be a factor. We have found stories of children with this who have been able to adapt quite well, and only have a few of these challenges. The variation in the amount of duplicated sections makes it difficult to project what Nathan will have to deal with as he grows. We hope to find out more when we are able to meet with our geneticist on June 3rd. Once again, most of this is from articles/research on the internet. :)

Overall, we are just blown away by our little miracle Nathan. He is such a joy and loves every moment that we spend with him. Finding out all of this has made us even more grateful that he was able to make it here. We just adore him.

March 24, 2008 - Nathan's Surgery Day

2008-12-14T09:04:00.000-08:00

Tara - Mar 24, 2008 6 months old
Nathan is fabulous! We are currently in post op. He did a great job during the surgery. We have two hours to wait while they watch him to make sure that he is stable enough to go home. They had expected that he might need to stay the night and even have a bed waiting for us if we need it. However, he is surprising everyone and keeping his oxygen levels stable. The anesthesiologist will evaluate him in a couple of hours -- he is the same doctor we had a couple of weeks ago. Since the doctors weren't ready to start at first, our anesthesiologist got to carry him around for a while and became quite attached to our little guy. : )

They ended up draining his ears of quite a bit of fluid. Our ENT decided not to do the ABR today since it might not be as accurate. We will need to come back in a week to see if we can get the test when he is sleeping -- fun, fun, fun. They were able to repair both hernias and everything else without too much difficulty. He will be in pain for the few days as he heals and we will have to come back in a week to get a couple of stitches out.

Overall, we are very, very happy. Our prayers have been answered and we are feeling very blessed. : ) We will update in a little while.

Tara - Mar 25, 2008 6 months old
We came home yesterday, shocking everyone. He is really doing great. He was a bit cranky during the night but has been all smiles this morning. We think that he is hearing better. He turns more to our voices and seems fascinated whenever we are talking. Based on our other children, I am sure that fascination will turn to ignoring in no time. : ) He is bruised and swollen. We still haven't seen his stitches. We get to take off the dressing tonight at bathtime. Life it great.

March 18, 2008 Drawing blood for the CGH Microarray Test

2008-12-14T09:02:00.000-08:00

Tara McKinnon - Mar 18, 2008 Almost 6 months old
The insurance finally came through after Dr. Rope (our geneticist) called the medical director. Oddly enough, they didn't contact us to let us know that it had been approved. :( I only found out because I called into bug them. :) Anyway, I took Nathan in to draw his blood for the CGH microarray test. This testing will detect the loss (deletion) or gain (duplication) of chromosomal regions. It is a fairly new test (around since 2004) that allows a more detailed examination of the chromosomes.

If you want to know more about the test, I found a good website that explains it all. http://www.abbottmolecular.com/CGHMicroarrayBasics_35754.asp

They first have to grow the chromosomes before they can do the test. The chromosomes are pretty jumbled up and spread out most of the time. However, they get organized in the X like shape people recognize right before they divide. Then they can split the chromosome for the test.

The important thing is that we will have the results in about 4 weeks. :) So we will just put that on the back burner and concentrate on the ophthalmologist that we will meet with today and the surgery on Monday. :)

March 11, 2008 - Nathan's MRI

2008-12-14T08:58:00.000-08:00

Ben - Mar 11, 2008 5 ½ months old
Nathan's MRI went well. It was a full-day experience with us leaving around 8:30am and getting home around 5:00pm. They ended up putting him out with general anesthesia, with a breathing tube down his throat.

It took a little while for him to get his breathing back under control (high enough SAT scores--basically getting enough oxygen and having a strong, regular heartbeat) but he eventually got that under control. He is a little more squeeky right now, with a hoarse cough (sore from the breathing tube), but that should get better as his throat heals itself over the next couple days.

As far as the results of the MRI go, we have no idea. They couldn't tell us anything. We expect a call from our doctor today to tell us what they found. We will keep you posted.

Tara - Mar 12, 2008 5 ½ months old
Nathan went under general anesthesia which means that he had the mask and tube down his throat. They thought that it was safer for him that way based on his tracheomalacia or laryngomalacia, and evaluation. It was good to see how he reacted to the anesthesia since he will have it again in a week and a half.

Today we got the results back. They didn't find anything wrong with his spine, temporal bones (all inner ear structures are normal), pituitary gland and hypothalamus. They did find that the optic nerves are small and that he has immature myelin. So what does that mean? An excellent question. : )

From what I understand, the myelin helps speed up the transmission of the electro-chemical impulses that are necessary for every movement, or lack of, in the human body. Right now he has the myelin of a 3-4 month old instead of a 5 1/2 month old. Hopefully, he will continue to be just two months behind. This concurs with his overall development which is about 2-2 1/2 months behind.

Small optic nerves means that he has fewer connections from his eyes to his brain. The more connections you have the better the vision. He is going to see an ophthalmologist on Tuesday to start to figure out what is going on with his eyes. : ) He will also get to see a Vision Therapist through Kids Who Count. She will help figure out what he is seeing and show us exercises that will help him focus and use his eyes better.

Update: Nathan’s ophthalmologist disagreed and thought that his optic nerves looked about the right size. Dilating Nathan’s eyes and using those interesting prism things showed that Nathan is a bit far-sighted. His eyes also tend to drift outward a little which is opposite of what Rachel had with her crossed eyes. The ophthalmologist was very positive in his diagnosis that Nathan would be able to see just fine.

March 2008 - First Try for the MRI

2008-12-14T08:57:00.000-08:00

Tara - Mar 3, 2008 A little over 5 months
We went for Nathan's MRI today, or so we thought. At first we were worried that they were going to put him under general anesthesia. We want the ENT to look down his throat before that happens. For the MRI, they are going to give him an IV to sedate him. After listening to him breathe, they decided that they wanted a anesthesiologist on hand when they sedate him, just in case. So we had to reschedule for next Monday, the 10th. Of course, we probably won't have any real news after we get the MRI done. It seems like it always takes forever to get any results. So they sent us home today. The day wasn't a total waste of time since Ben and I went out to lunch at the Olive Garden. I can't remember the last time that Ben and I went out to eat, and I loved it. :)

We are still working on getting the genetic testing done -- the insurance still hasn't gotten back to us.

February 2007 Accomplishments

2008-12-14T08:56:00.000-08:00

February’s Accomplishments

2/5/08 Rolled over from back to front. Rolled over his left side.
2/11/08 Grabbed mom’s fingers and pulled them to his mouth
2/13/08 KWC – played with the hanging toy well. grasps well with the right hand using his thumb but less with the left thumb
2/15/08 Drinking 4 oz at one time!
2/20/08 Reaching up and grasping hanging toys. Holding on to the toys for a minute or more. He hits at the toys to make them move, seems to investigate the toys with both hands. Still grasps better with his right hand. He is also pulling on the hanging toys – enough to make the music and lights turn on.
2/20/08 Anticipating getting tickled and “laughing” squeak with a happy smile.
2/23/08 He can now drink from 5-7 oz of formula in one sitting. He is still waking up 3 times a night. He usually wakes up at 7 AM and stays up until around 11:30. He will sleep until 2:00-2:30. He usually stays awake until 5:00-6:00 PM. He will take a nap until 8:00-10:00. Then he is up for around an hour before letting me go to bed. At night he usually wakes up at 12, 2, 4 AM. We are working on adjusting this schedule somewhat. He and I need more sleep.
2/25/08 Rolled over front to back over left arm

January 17, 2007 - The Geneticist

2008-12-14T08:53:00.001-08:00

Ben - Jan 17, 2008 Almost 4 months
OK, so we have had another doc visit, this time with the geneticist at Primary Childrens' Medical Center. We were hoping to have the results of the high resolution chromosome test for the visit and we were lucky enough to get them just in time. Additionally, we hoped that the results would tell us whether he has cri-du-chat or not.

So, to get right to the chase, they were not able to get a "high resolution" test from Nathan's blood. It was more like a low resolution result (I guess babies' blood is notorious for not allowing high res results). Anyway, the good news is that the "lower res" results did NOT show a chromosome abnormality!

We had to be checked in our excitement with these results, as all the docs assured us that it does not rule out chromosome disorders that cannot be detected at that resolution. The geneticist felt that Nathan had enough of the signs (he does have quite a lot of them) that a chromosome disorder is the most likely explanation. Bummer.

We are encouraged, however, that the low res results showed normal because the more severe cases of cri-du-chat and other disorders would be identified in this test. This gives us hope that whatever he has will be a more mild case.

The next step is to go to the super-dee-duper chromosome test that should show about 6000 points instead of the 550 on the low res. This test costs a bundle of money, so we are going to have to wait and hope our insurance doesn't cause too much of a stink. The insurance usually takes a couple weeks to respond to the request, so we will wait and see. Results to the test (after we draw blood for it) take another 3 weeks to a month). So we are back to the waiting game.

The geneticist does NOT think that Nathan has cri-du-chat. His best guess would be Williams Syndrome. But Nathan does not have a couple of the most prominent features associated with Williams, so basically they are stumped. Results to the super test will be our best bet at finding answers, though the geneticist said that there was only a 15% chance that it would reveal what is going on with Nathan. It may even be the case that Nathan has something unique (uncharted territory baby!).

Aside from all the doctors (Nathan is currently on the radar of 6 doctors, and a few specialists who will be making house visits), he is doing quite well. Some of the red flags that started this ball rolling aren't as "red" anymore. He can focus and "follow" with his eyes much better, he shows signs that he can hear okay, he kicks his legs, is starting to play with his hands (and open them more), and can roll part way over (from back to side or front to side). He seems to be gaining weight a bit more than in his first couple months and is smiling a lot with the cutest big grin ever!

He still has his moments of pain and discomfort (as Tara can attest to-- some days more than others) but is doing quite well. He might be doing even better if his next oldest sister didn't "love" him quite as much as she does. :)

Thank you all for your prayers, thoughts and service. We have felt that impact greatly and know that we are being blessed immensely.

January 3, 2008 Adding the ENT, General Surgeon and Kids Who Count

2008-12-14T08:50:00.000-08:00

Tara - Jan 3, 2008 -- about 3 months

We took Nathan to see the ENT (Ears, Nose, Throat) yesterday. He is going to join the surgery team and take a look down Nathan's throat to see if there are any problems with his larynx and vocal cords. He will make sure that everything looks right before the anesthesiologist takes over.

While we were there we decided to make the appointment with the Urologist and General Surgeon. When we dropped by the General Surgeons office to make an appointment, they asked if we wanted to stay and see the doctor. Now he is on board to do the operation on Nathan's umbilical hernia. We won't know when the surgery will take place until Feb 5 when we meet with the Urologist.

Today, I met with the Kids Who Count representative. She is setting Nathan up to see the nurse and the occupational therapist. Mary, the occupational therapist, will work with him on both gross and fine motor skills until he is a little older. At that point, he will get a physical therapist too. : )

Yesterday, Ben took Nathan to the hospital so that they could take his blood for the high resolution chromosome test. Last time we were in they said that it would take about a month to get the results. Happily, my doc called and told me that it should only take 2 weeks. : )

Nathan is now following us with his eyes. Hurray!
First sounds – he sounds like breathy sigh squeaks. He doesn’t say vowel sounds but when he is crying really hard he makes a sound that sounds like “Mom”. He doesn’t mean it but I enjoy it!

December 2007 - Starting Down the Syndrome Road

2008-12-14T08:35:00.000-08:00

Tara -- December 23, 2007 – about 2 ½ months
This has been quite an emotional week. I took Nathan in to see our family doctor last Monday the 17th. The nurse weighed and measured to make sure that he was growing properly. Nathan weighed 9 lbs 1oz. He was in the 25% for both height and head circumference. His weight, however, had dropped to 3rd percentile.

When the nurse asked me the typical milestone questions, I realized that Nathan hadn’t smiled at me at all even though I had been trying to get him to do so for weeks. He also hadn’t been cooing or making many noises as all except for crying, and his little stridor noises when he breathes funny. He also doesn’t follow people with his eyes much and often doesn’t really focus on anything at all. I had never really paid much attention to the milestones because my children had always been right on time or early with most of the milestones. I was a bit shocked that he wasn’t thriving as my other children. I began to worry if he was getting enough to eat.

The doctor came in and check out his abdominal and inguinal hernias. They were actually a little smaller that day. His abdominal hernia has been growing steadily for the last two months. The doctor spent some time looking at Nathan, and trying to get him to focus his eyes on him. Finally, he said that he thought that I should see the pediatrician that saw Nathan in the hospital. His nurses would call to set up the appointment. Still I wasn’t too worried. I would add more formula to his diet and that would fix things.

Wednesday morning the 19th, my family doctor's office called to say that they had an appointment that day at 1:45. For a moment, I almost said that we would need to reschedule since I was working and trying to get ready to leave for Christmas vacation.

At the doctor’s office, we weighed Nathan again and shockingly enough he hadn’t gained anything in 2 days. The nurse came in and asked me questions again. Finally the pediatrician came in. He looked at Nathan and asked why we had come in. I explained about his birth weight and missing milestones. This all took place in the first minute or so. Then he took a better look at Nathan and asked, “Did Nathan look like your other children?” I smiled and said, “No, this was the first time I didn’t get a carbon copy.”

He told me that he thought that Nathan had a genetic disorder. Then he asked what looked different. All the little things that I had noticed and considered unique about Nathan took on a different light. I commented that his chin was set back farther or smaller, his ears were different, he had an ear tag, his fingers were long, he always held his thumbs in, he mews for a cry, and then his hernias. He doesn’t eat as well as the other children, often has difficulties swallowing, and often the milk go up through his nose. He took a look at each body part as I mentioned them. He told me that he thought that it was possible that Nathan had Cri Du Chat. At that point, I told him to start writing everything down. I knew that I would want the information but would not be able to remember it all. He did better than that. He wrote everything down and wrote down a simple plan. Here it is.
Research. ?Cri du chat? Smith’s Recognizable Patterns
1. High-res chromosomes
2. Consider echo
3. Genetic referral
4. Fix hernias
5. ENT for laryngomalacia stridor

These are the things that he noted about Nathan
long fingers
cortical thumbs
retrognathia or micrognathia
low set ears with simplified helix
umbilical and inguinal hernias
weak cry but normal tone
distinctive facial features
tracheomalacia or laryngomalacia
Chromosome imbalance
5P- or Cri du chat

He also gave me some websites to visit: Pubmed®OMIM, Genetests.org. He encouraged me to research with him. He wrote a prescription to take over to the lab to get the high resolution chromosomes test.

He took pictures with his phone to use to compare Nathan to other children with different genetic disorders. He told me not to get too stuck on Cri du chat. Though, he believes that Nathan does have a disorder, it could be another syndrome.

I was going to go to the lab right away until I remembered I had 2 children getting out of school. For a moment I forgot that I even had other children! When I got home, I jumped on the Internet to find out what the heck Cri Du Chat was! That is when I read this line, “Children with cri du chat syndrome can lead happy fulfilling lives as valued members of their families and communities.” Then I knew that my world was going to shift forever.

I began reading about the disorder and called Ben. He was doing phone interview every twenty minutes and didn’t have much time to talk to me. I skimmed through the site mentioning that it was part of Chromosome 5 that had been deleted. Then I read through the characteristics of the syndrome. My heart fell as I read each of the indicators: weak, cat-like cry, small receding chin (micrognathia), low set ears, skin tags on the front part of the ear, poor eating, and slow weight gain. Not good. How could it be something other than this disorder?

I remember thinking just a few weeks earlier, that I was lucky since Nathan was only born with a few little problems like hernias to overcome. He just needed to survive a few months and then they could all be fixed in an operation. His breathing has been steadily improving. I remember feeling guilty for being so protective of Nathan when he was managing so well. So many people had children with lifelong troubles, I had thought.

Truthfully, I did pretty well that night, researching, thinking things through and staying up half the night cleaning and getting ready for leave for my parent's home. Life will be different but we felt so grateful for little Nathan. Ben kept saying that this is what the Lord wanted for Nathan and for us. Ben has been a great strength to rely on.

Thursday, however, I barely made it through work. I just kept crying and couldn’t concentrate on work at all. Emma happened to catch Ben shed a few tears. She said, “Daddy, your eyes dripped!” Our kids make all the struggles worth it.

Ben took Nathan over to the hospital to get the High resolution chromosome test done, but the insurance denied it. Our pediatrician is sending notes, etc. to show why we need to know if he has the disorder (duh!!!) and how it will affect his treatment. I thinking that I should start calling after to Christmas to find out the status of the approval. You know “the squeaky wheel gets the grease” and all. I want the test to be done now. We will have to wait long enough just to get the results back. Once we know for sure what we are dealing with, we can know how to proceed. Until then, Ben and I are going on the assumption that he has Cri du chat.

Truthfully, I didn’t want to go anywhere, even to my parents. I wanted to curl up in bed to cry and do research on the Internet. I am amazed that we left only 3 hours late. We were not moving fast.

It is hard not to get emotional about it. We want so much for Nathan. We are both so grateful for our faith in Christ that helps us realize that he will receive every blessing later. We still cry over lost dreams for him and for us.

We do funny things now. I am obsessed with getting him to open his hands. Before that appointment, I had never realized that he didn’t open his hands. When I opened his hand, I found that the skin was really tight and his thumb couldn’t fully extend. This is why he held his thumb in all the time. From that time, I have been working to help him open his hands, and to stretch the skin. He finally did by himself today.

October 2007

2008-12-14T08:34:00.000-08:00

October 2007
We went to Primary Children’s Hospital for the first time today. We met the Urologist, Dr. W. He thinks that Nathan’s hernia is large enough that it won’t become twisted, and dangerous. So he suggested that we wait until Nathan is six months old to have the surgery. We just have to be careful to watch him in case something goes wrong before then. He will also fix the hypospadias at that time.

I spend many nights sleeping sitting on the couch holding Nathan so that he can breathe better. He tends to squeak during the night and struggle to breathe when he is lying down. I don’t sleep much anymore.

September -- Nathan's First Few Days

2008-12-12T22:37:00.000-08:00

September 30, 2007

Today I am finally writing about Nathan Daniel’s birth. On his arrival, we found the cord was wrapped around his neck. Dr. P unwrapped it and Ben cut the cord quickly. Nathan was rushed over to the nurses who worked quickly to clear his airways.

Dr. P helped me while listening to what was going on with Nathan. I knew something was wrong by the awful/concerned look on Ben’s face. Nathan was breathing but his small soft cries didn’t sound right. They quickly weighed him, noted the time, and let me give him a swift kiss before whisking him away to the nursery. Ben, the doctor, and the nurses all left with Nathan, and I was left alone in the room. It was so frustrating because I didn’t know what was happening but I was glad that Ben was with him. I knew that he would let me know what was happening as soon as he could.

A nurse came back to give me a little card telling him his stats, and stopping the epidural. Nathan was 6 lb 10 oz, which is pretty small for my babies. He was 19 inches long. He was born at 14:01 in the afternoon on September 28, 2007. His APGAR scores were 5/7.

It was another hour and a half before Ben came back to me. Nathan had a huge inguinal hernia, hypospadias, and stridor. (Stridor is an abnormal, high-pitched, musical breathing sound caused by a blockage in the throat or voice box (larynx). It is usually heard when taking in a breath.) He was under the oxygen hood.

I was very anxious to get to see Nathan and was happy, when another 2 hours later, Ben was able to wheel me over to the nursery to see Nathan. Dr. P asked a pediatrician, Dr. K, to come by and evaluate Nathan. I was happy to hear that he thought that Nathan’s inguinal hernia was easy to reduce and we wouldn’t be headed to surgery right away. We were given the number for Primary Children’s Medical Center in Salt Lake City. We hoped to get an appointment in the next week.

Nathan spent the next few days in the nursery. In that time he failed his hearing test, had chest X-rays, and an EKG. The X-ray showed some clouding which indicated the possibility of pneumonia, so they started him on antibiotics. The EKG was normal. We have to position him just right so that he gets enough oxygen. He makes a squeaky noise whenever his head is in the wrong position and he isn't getting enough oxygen.

Our Nathan

2008-12-12T22:28:00.000-08:00

This is a blog for those who are concerned about Nathan’s progress and those who might have children with the same or similar syndromes as Nathan – Partial Trisomy 16 p (16p+). For those who have been following Nathan’s progress all along, you may want to skip to the last entries. Most of these entries have been taken from a journal I have been keeping on Nathan since his birth. I will continue to post updates as time goes on.