Post 15

With all of Gabriel's challenges, I felt the need to make connections with other families who have children with Costello Syndrome. I have been blessed to be welcomed into the Costello Family Network.  This is an organization of parents and family members who experience the same challenges Gabriel and I face.  Most of these other children are in the clinical study, as is Gabriel. The bonus is that it includes geneticists and other doctors who research the Costello Syndrome.  Every two years a major conference is held so families can meet and share with each other AND meet the researchers from all over the world face to face.  It is a powerful group!  There are only about 300 Costello children in the world.  ( 7 of them are in Texas!).  I actually sold some of my furniture that had done nothing for me other then collect dust, to pay my part of the 8 day hotel bill!  It was worth it! I can't tell you how much this trip meant to me! Two years of feeling very much alone, even though I knew other families were out there.  To actually meet them in person was a life changing event for me.  I have spent many nights staring into the sky wondering how are they all doing around the world.   I’ve often wondered, how do THEY cope? What are their lives like?  Do they fear the worst for their children?  Am I so morbid that I can’t seem to release this fear of my child passing away?  I work at focusing on positive things, but often my fear overcomes me.  I’ve come a long way since the first day I was told that Gabriel had this life changing syndrome, but I still have those moments and maybe others do too.  It’s something that is really hard to talk about unless I'm talking to someone who shares my fear.  That thought that just dwells in our brains always. The idea that Costello syndrome is a cancer syndrome is hard to wrap my brain around and it just scares me. With heart, airway, feeding, developmental problems....and still we have to worry about cancer creeping in on our children.  So I guess in my mind I was thinking if I could meet these people a part of me would heal.  And it has.

The trip to Orlando, Florida was a lengthy 8 days.  There was a lot to pack!  It was a pain getting through airport security with all of Gabriel's stuff.  Luckily we were smart enough to get advance clearance  through TSA to take additional carry-ons for medical reasons.  It was not exactly easy! In Dallas the TSA gave us an escort, but we had to fend for ourselves everywhere else.   It was quite the juggling act with SEVEN heavy carry ons with medical equipment, a cooler of formula, a carseat for the plane and the stroller. I pushed the stroller and held bags while my poor mother was pushing a wheel chair with a mountain of equipment in it towering so high it basically blocked her view. By the time we made it on to each plane we had broken a sweat but relieved none the less. Our fellow passengers seemed a bit irritated, as we had no choice but to take up about 5 overhead bins to hold the equipment.   I was glad I opted to bring my mom as helper/luggage manager.   It was Gabriel's first time flying and he was so good even though we sat on the tarmac 2 hours after we landed in Orlando....and coming back there were plane problems that caused us to have to take 3 flights back! 

With only a couple brief meltdowns, most of the time Gabriel kept happily occupied with my iPhone. 

The conferences were packed with information.  There were days of lectures and then we had the honor to meet with each doctor/researcher one on one.  They are all so awesome.  There is no way to thank them enough for all the personal time they invest in CS research.  It was also an honor to meet the founders of the Costello Kids and Costello Syndrome Network!  Some of these families were the first to have children with CS before anyone really understood what CS was!  They have gone through so much with their CS children and it is inspiring to hear their stories!   I thank God for the day we got in touch with Dr. Karen Gripp at DuPont Children's Hospital who confirmed Gabriel's condition. 

I left the conference feeling like I had met all my heroes and joined their family

Post 14

Once again, I have returned to the blogosphere, and so much as happened since I last posted! Gabriel hasn't had any hospitalizations since December 2012, which means he is able to continue the early head-start program. He is doing so well in it!  The schools staff and teachers have cooperated with Gabriel’s potty training schedule and he is coming along nicely. He is able to keep a dry diaper for over 3 hours at a time, and whenever I ask him if he needs to go, he can communicate yes or no. It’s usually too short a notice, but most of the time I can get his diaper off  him in time to sit his butt on the potty and we have success and no mess.
Gabriel is still not walking or crawling.  He was standing flat footed with minimal support but with his hospitalization in December, and the loss in the intense hands on therapy, I've noticed Gabriel has back tracked significantly. Because of this, the physical therapist ordered a gait trainer for him and we are excited to get it.  Despite my best efforts in continuing what I learned from the therapist and applying it, I noticed how tight his heels seemed to be. Whenever he stands, he immediately goes up on his tip toes.
I tried to stretch his heel by placing his heel to the ground with his toes pointed up toward the ceiling at a 70-80 degree angle, and then pulling his big toe back gently, holding for about 15 seconds. Ideally this should be done about five times a day, but it seems his tightness in the heel wasn't getting any better. I finally decided to take him in to see his orthopedists.
The orthopedic concluded that Gabriel has a tight Achilles tendon, and the only way to fix this would be through surgery.
Furthermore, he said that Gabriel would not learn to walk until this procedure was done.  Suffice to say I was definitely disappointed to hear this news.   The doctor also added that they would go in and release a tendon in his thumb. Gabriel has always struggled with holding objects.  He’s always had silly little fingers that are unlike any other little fingers I have ever seen.  He has learned to use his pinky the same way we use our thumb; that little pinky gets quit the workout!  At least for now, it looks like Gabriel will get some help in this area too.   We still have to get the go-ahead for this procedure from his heart doctor, and with his problematic little heart, she says we need to wait. The last time Gabriel went under anesthesia he was in the ICU for two weeks.   
In the mean time, the orthopedist had the prosthetic department create a special customized shoe insert that would fill the gap when Gabriel was on his tip toes, along with special shoes just for him.  The insert is like a boot that goes up to just under his knee with a wedge under his foot. I simply call them his “magic shoes!” Gabriel didn't like them at first, but since I gave them a more uplifting, positive name he seems to now be excited to wear them.   He wears his magic shoes about two hours a day for now and we are working our way up to most of the day.
I meet with his heart doctor next week to get her take on the prospective surgery, I’ll keep you posted about Gabriel’s progress.

Post 13

I do realize Gabriel needs interaction with other children. I also realize he needs to be able to see other children walking and eating. I believe this will spark a curiosity and hopefully spawn his own desire to walk and eat too. I realize he needs kiddos his own age to interact with, he needs silliness and laughter. He needs to know that he can be without mommy for awhile, and that mommy will always come back. It will be a good thing when he can go back to his program, but I have no idea when that will be. It all depends on his health and, of course, the approval from his many many doctors.

In the mean time, since I feel energized and inspired, I figured this would be as good of time as any to introduce Gabriel to the potty! Potty... I used to roll my eyes when my mom would use that word, and now look at me. I’m happy to scream the word potty in a crowded mall in front of a hundred people because baby, it’s potty time!

True, Gabriel can’t walk yet, but after thinking about it I realized something. There are children who are wheelchair-bound and have many physical issues that learn to use the potty every day, so why not Gabriel? My sister-in-law donated a potty-chair she had used for her little ones. I now have the tiny potty in my home, awaiting a tiny little butt to warm its rims.

For now, I’m simply letting Gabriel get use to its presence. He sits next to it, sometimes he will lay on the floor and put his legs up on the seat. He is still reluctant to sit on it but that’s ok, one day at a time. Every few hours I change his diaper next to the little throne and say, “it’s potty time!" I want him to associate the potty with the disposal of his diaper, I even put his wet diapers in the potty to show where it should end up. This may be a long road, but I’ll keep you posted.

In the mean time since he can’t speak yet, I've been teaching him sign language. Because the bone structure of his hands are very different
it is hard for him to replicate the signs I teach him, but what I have found is that he creates his own similar signs. He has learned that when he has a full diaper he pats his diaper with a closed fist. When he is hungry he sticks his fingers in his mouth, he knows how to shake his head no and nod his head yes and shrug his shoulders when he want’s to say “I don’t know mom”. I've realized when he threw a tantrum it was out of frustration because he had no way to express what he needed. But now that we have the basic communication covered, I've noticed he's much happier these days.

Anyway that’s my tip… encourage your children to sign and please drop me any tips on this potty stuff!

Post 12

I got to thinking… I have now been a single parent for two years now. Single an unable  to make any money due to the extreme circumstances. Only God knows how hard I've tried to change these circumstances. For two years I have woken up every day with one mission in mind: to fix our lives and get my son healthy, into a great daycare, assure he does well, then get my butt back to work. Every day I have a constant drive to earn money again and stand on my own two feet the way I had done before. I have sought every avenue, wrote countless letters, interviewed countless caregivers, and each time ended up at a dead end. 
Once anyone fully understood the extensive care my child required they would run for the hills. 
Then Gabriel was accepted into a special early childhood program for a few hours each day and it looked like I'd be able to get back to work, but shortly after he started the program, he was hospitalized again at the end of October for a virus.  Then three weeks later he went in for a MRI and ended up staying in the hospital for 16 days!   He has now been back home with me, out of the hospital for a month and still unable to return to his program and friends.  
It has been in this time   I've realized how much I miss him when he is away, and how glorious it is to have this time together.
After two years of trying so hard to “fix things” I finally learned something. I learned that everything is as it should be. I realized how precious each moment is, even on days that drain me, days where I swear I’m brain dead. I realize it all boils down to my attitude about life. The situation didn't need changing.  My attitude needed changing.
It’s time I make peace with our lives and appreciate the good things we have. I have my parents, they have taken us in and adapted to the circumstances, and I have my brother and his family who give me tremendous support. I have the ability to be with my darling nieces more often. I have the gift of growing as a person, the gift of having lived on both ends of the spectrum. I once was a care free, worry free, shoe shopping money making, fast car driving, selfish, closed minded clueless, empty girl. But through this difficult time I have become closer to the true definition of a mother: caring    loyal, appreciative, humble, grateful, strong, passionate, frugal and loving.  
I love being the mom of Gabriel. That is something all the money in the world can’t buy. That is something you can’t just learn by observing or reading about it, that is something you have to actually live and breathe.
So with this epiphany, I have felt a feeling I haven’t felt in those two years, the feeling of contentment and along with contentment comes relief and with relief comes peace.  
When I reflect on the past two years I’m amazed at how far my Gabriel has come. There was a time when we didn't think he would ever hold his head up and now he scoots around on his tiny little butt as though he is on a mission of his own. He inspires me, he is the only one that matters, he doesn't care if mommy has her own house, or job, or if mommy can buy him nice things. 
All he needs is his mommy and all I need is him.

Post 11

A few months ago I noticed he has growths of skin at the base of his spine near his bottom. I have read about this before in Costello children. They look like skin tags. The skin tags indicate possible channels growing into the spinal cord. This could explain why he has been unable to walk all this time.

Gabriel went in for a MRI to determine if he had a tethered spinal cord. He ran a low fever the prior night but had no fever the morning of the test, so they proceeded. When putting him to sleep they intubated him. There were complications that resulted in his going to ICU on oxygen for 12 days, followed by an additional 5 days with oxygen on the Pulmonology floor.  Four days into his stay he tested positive for a rhinovirus, so they presume that was the cause for the complications. Eventually Gabriel was sent home with oxygen tanks but thankfully we haven’t had to use them yet. A few weeks after being home Gabriel went for another chest X-ray and they discovered he had pneumonia. I decided it would be best to keep Gabriel home from school for the next few months. He needs to make a full recovery and then some. I have put my classes on hold and will return to school my self once we are over this hump. The good news is while Gabriel was in the hospital, we received the news that the MRI on his spinal cord was all clear. Gabriel does not have a tethered spinal cord. 

.

blog 10

So now I’m all caught up…. Gabriel started a school program designed to give people like me (a single mom) a chance to go back to work or school.  

It was a long and involved process to get him in, especially with his severe condition. I’ve been working the past year to make this happen for him. The school needed permission from Gabriel’s doctors before he could attend this program. I’ve had to obtain sevrel letters stating that he was stable enough to attend this program. We needed to get duplicated meds to keep at school, etc.  

The school told me they had one nurse for hundreds of students and with his complicated feed schedule it was impossible for her to set up the pump, clean it, wait for the feed to be over then come back and clean the tubing. Instead they would request additional funding
 from the school board for a extra nurse, just for Gabriel. If they were successful we would not have to  take him off the pump during the day. Unfortunately this route proved unsuccessful. In the end, the only way to get him into school would be if he was off the feeding pump during the
 day. I waited many months but under the guidance of his GI doctor, I slowly weaned Gabriel off the pump. 

We weaned him from the pump to the bolus tube over the course of many many months. On the pump, his feed took about an hour but a bolus feed takes about five minutes.  I now could bolus him during the day and he would only be hooked to the pump throughout the night. 

After all these months, he could now go to school. He deserves a better life. For the past year the two of us have basically been confined to one room all day, hooked to his pump… I stayed by his side and read to him sang to him, used flash cards, we played, you name it. Our daily schedule was filled with appointments with any of his 12 doctors, so we rarely got to do anything else! This opportunity would expand his world.  

Gabriel finally started school in Oct of 2012, we had to ease him into this new world. 
Every week I took him to school and stayed with him for a few hours. Then we would go home. He’s made many friends while at school, Gabriel also gets therapy from an early childhood group for children with disabilities. Gabriel is thriving and I finally have time to work on changing our lives for the better.

Post 9

Looking back, it all makes sense now.

All the pieces of the puzzle are coming together and forming the picture that is Costello Syndrome.

Every time I turn around it seems there is a new challenge to face. Just when I get use to one issue, low and behold, there’s something new that emerges. I remember asking medical staff if there was anything we could do to look at his airway. Yes, I remember asking about it many times the first few months of his life. What prompted me to ask for this kind of exam? Well, remember he wouldn’t eat? We couldn’t figure out why.  Everyone kept telling me the milk was too thin, or I wasn’t holding my baby properly during a feed.  Remember? Because I certainly do. I remember how inadequate the staff made me feel. Nurses telling me I had to work at feeding my baby. So, here we are, five months later and it only took 4 times for my son to stop breathing before someone, other than me, started asking questions. Only 5 months and 4 blue spells before his airway was ever looked at.

Finally, he underwent a laryngoscopy (a medical procedure that is used to obtain a view of the vocal folds and the glottis) and bronchoscopy (a procedure that allows your doctor to look inside your lungs' airways). The exam revealed he had significant subglottic stenosis (a rare condition in which the airway narrows because the airway cartilage did not form normally in utero). He was born with this deformity, and now we knew why he couldn’t breathe at times and why he struggled with eating.

To date, his symptoms since utero are excess anionic fluid, various heart issues (ectopic atrial tachycardia & atrial flutter), ulnar deviation of the wrists and fingers,
 tight achilles tendons and now a deformed airway.

Lots of research, questions and confusion; but still no results from any genetic testing.

Something had to be done about his airway. The plan was to perform a tracheotomy. The hospital staff explained to me that this was our ONLY option. They gave me a packet of information, a video to watch and told me I would be sent to a nursing facility with my son for thirty days to learn how to care for the trachea tube. I was even invited to meet a family with a child on a Trach. I declined. I didn’t want to meet the family. I knew what we were in for. I’d prefer to just deal with it head on. I felt like going to meet this family was like sealing the deal. Our nurse kept telling me I should go so that I could see that having a child on a Trach really wasn’t that bad.  What?  Wasn’t that bad?  My thoughts kept reverting back to the time I thought a G-button was so awful.  The G button was a mere walk in the park compared to what was to come.  I once referred to it as “that darn button”. Now, I’d be saying “that darn Trach.”
 

No, I can’t just accept that my son would have a Trach.  I wasn’t ready to fold, not yet. I still had questions. A majority of the time Gabriel could breathe on his own.  It was just random moments when his air would be cut off. The rush to perform a tracheotomy seemed lackadaisical. There had to be another way.  I met with an Ear, Nose and Throat (ENT) doctor to discuss my concerns.  He was very warm, friendly and incredibly patient. He told me this was this only way.  I took a deep breath looked him in the eye and told him I would not consent to the tracheotomy and to find another way. He gave me a quick head nod then left the room.  I sat there alone for several minutes, left with only my thoughts. Was I in denial?  Was I demanding something that was dangerous for my baby?

Our nurse entered the room. She asked me how things went. I told her what I had said to the doctor. She then looked me in the eye and said, “He doesn’t need your consent to perform the tracheotomy, he will do what he thinks is best for your son.”  I never felt smaller. I knew she was right, but I couldn’t silence that little voice in my head telling me to fight this one. I needed reinforcement. I called on my family for support. We decided to request a more formal meeting with the ENT.

Early morning the following day, I was awaiting our scheduled meeting. I sat in a chair at Gabriel’s bedside and read to him. A woman, whom I have never seen before, entered the room. It was apparent she was a doctor but what type I wasn’t sure. She wore a white lab coat and had a very matter of fact disposition. She looked over Gabriel she examined his hands. She then asked me  questions about how the pregnancy was with Gabriel. She asked me if I had excess anionic fluid. I wasn’t surprised by the question. 

My pregnancy with Gabriel had been extremely complicated and I had now learned about the possible outcome to my symptoms.  I knew that excess fluid was not common, but when present, often suggested poorly controlled diabetes, twins or gestation cleft pallet as well as a long list of syndromes.
 

I was already told that my son had a syndrome. What was she getting at?  She asked me a few more questions about my family history as she continued to look Gabriel over. I answered to the best of my knowledge. I explained that Gabriel had molecular genetic testing done several months ago with no conclusion. But time was up. I told her I would have to leave to attend a meeting with our ENT.

Gathered around the large table were my parents, Gabriel’s father & his parents, and the doctor.  

None of us wanted Gabriel to receive a tracheotomy.  We all agreed we wanted a second opinion.  But, what kind of a risk are we taking by waiting on that second opinion? Our ENT doctor listened patiently as we hashed out every aspect of the issue.  He gave a surprising response. He told us he had contacted some of his peers and did some research.  There was a procedure referred to as “balloon dilation.” 

This procedure could possibly reshape the airway.  This balloon is to be inserted into the airway
then inflated.  The hope is that inflation of the balloon will open his airway. If this proves to be unsuccessful, then they would go ahead with the tracheotomy.

 I agreed with the plan and the surgery was scheduled.

Gabriel was taken back to undergo the balloon dilation procedure. All I could do was sit and wait. I tried to prepare myself for what I might see. He would either come out with a better airway or I would see my baby for the first time with a trach tube in his throat. I was surprised as to how fast the procedure went. Gabriel was in and out in under an hour. The ENT surgeon approached me with a grin on his face. He told me he was pleased with how easy Gabriel's airway popped open. I was thrilled, but he cautioned me that his airway could still collapse at any time. He told me we might possibly need to come back and get this procedure done several more times before his airway holds open.

If it collapses several times more, we would then consider surgery or the trach as an option again.  For now things are good and stable for Gabriel

Post 8

Gabriel recovered from his G button and fundoplication procedure and we were sent home a few days later.

Gabriel would now be hooked up to his feeding pump a full hour every three hours during the day, and then it would run all night. I soon realized the risk of Gabriel entangling himself and possible strangulation from the tube. This became a constant worry to me. All the child care experts and any baby book will tell you that by today’s standards a baby should have nothing in his crib, but should be dressed in a single layer of warm clothing. Having blankets, toys, and stuffed animals increases a baby’s chance of dying from SIDS. However, through research you’ll find there is hardly any literature on how to manage a baby with a feeding tube in his crib. It was nerve-wracking. Strangulation from the tube is a real possibility, even to this day, when he is hooked up to the pump. I can’t leave him alone for a second. In addition to that, there is the fear of him pulling out the G button by snagging or pulling the tube in some way. I had to thank my lucky stars my son was approved for a nighttime nurse so I could sleep at night. But that got me thinking. How do other families, who are not fortunate enough to have someone to monitor their loved ones, manage their children that are on feeding tubes and respiratory equipment?

Not too long ago, I was watching a documentary on the Discovery channel. There was a story about a 16 year old boy with cerebral  palsy and his parents. The life they led seemed unreal to me. They were a typical middle class family. The mother stayed home with the boy, and the father worked long hours to pay the bills. I watched in sympathy as the mother carried her boy from room to room as they went about their day. Their home was not wheel chair accessible. The father was unable to lift his son due to several heart attacks he had endured the past year. The mother was left to do almost everything for him. She bathed him, fed him, dressed him etc. She even slept in his room every night on the floor as he was prone to seizures and suffered from sleep apnea. The mother was understandably fearful of what might happen to him during the night. She carried this heavy weight upon her.

When I recalled this I immediately felt selfish. I had to mentally step back a moment and remember how blessed I really am. I started looking for products that may help with the G button. Eventually, I discovered a simple and delightful product to help protect the G button from tugging and aid in keeping the button clean. The company is called "cute as a G button". The product is a belly band that snuggly wraps around your baby’s tummy. Simple product, great idea!

As weeks went by, just like everything else, Gabriel and I adapted to life on a feeding pump. Before I knew it, I had Gabriel in one arm and was pulling the IV pole and pump with the other. If we went out, I would remove the feeding pump off the pole, stick it in a backpack, and carry it with us.

The nurse we had been using took a job working at a hospital and gave me her two weeks notice. I spent a great deal of time interviewing prospective applicants, and when I found a nurse that met the criteria, I trained her on how to care for Gabriel. She told me she was confident in what she had to do for him:  monitor, clean, refill his feeding pump, distribute meds every few hours, and check his heart rate every few hours.

I cautioned her about being very mindful of where the tube is at all times, so to prevent accidentally pulling it out of his stomach. On her first night of the job, around 3 AM, the nurse woke me up and exclaimed, "The button has come out." Half awake and in haste, I made my way to Gabriel. As I came closer his crying screams got louder. Then there it was, a hole in his stomach where the button had once been.

I knew we had to get it put back in very soon. During our most recent hospital stay, the doctors stressed that if the button does somehow come out it must be replace within two hours. Otherwise, the hole will likely close up and Gabriel would have to undergo surgery all over again.

My grogginess wore off, then it hit me... Gabriel was due for his heart meds. We had to get the button in, and it had to be done now.

I looked to the nurse to replace the button. She explained to me she had never replaced one before and didn’t know how to do it. This was news to me. During our initial meeting she told me she was confident in all areas of G button care. Now here she was, telling me she couldn’t do it. I wasn’t pleased. I had a good idea how to put it back in, but I had yet to actually do it successfully. I had high hopes that the nurse could do it for me. I was dreading  attempting to insert the G button. I never had a problem dropping the NG tube, but for me, the G button was a whole new ball game. I could barely stand to look at the hole in his stomach much less try and push something through it. I needed help that the nurse obviously couldn’t provide.

Feeling flustered, I called on my mother and she immediately showed up, rolled up her sleeves, and proceeded to insert the button. Gabriel’s cries of pain were almost too much to bear. An hour had gone by with no success; I was getting ready to pack his diaper bag to go to the ER to replace this stubborn button. That was, until out of nowhere, I heard an explanation of joy shout out "I got it in!" When I heard my mom say this, all I could think was... thank God for moms! I realized I would have to suck it up next time this happened. It was apparent the button coming out would be a common recurrence.

It was now the end of June 2011, Gabriel was at his father’s Saturday night. I was at home sleeping soundly. Around 2 AM, I received a frantic call from Gabriel’s dad. He told me Gabriel had stopped breathing and was at the hospital.

When I heard those words, a familiar sickening feeling came over me. He told me what hospital they were at and hung up. I took the 30-minute drive to the hospital much faster then I should have. I couldn’t get there fast enough. Once I arrived, I was immediately taken to the room Gabriel was in. By then, my parents had arrived and Gabriel had quite the posse. Doctors, nurses and family surrounded him. I went over all the meds he was currently taking with the staff. Gabriel appeared to be okay. He was lying in his hospital bed surrounded by cushioning blankets. The doctors and I were discussing the details of Gabriel’s blue spell episodes. I asked again if it may have been a rapid heart rate that could be the culprit. A nurse intervened and said "It’s hard to say if his heart is causing the blue spells unless we see it on the monitor."

Almost as soon as she said that, the monitors sounded the alarm. It was happening again.

He stopped breathing. This was the second time he stopped breathing that day. The staff acted quickly to give him oxygen. I stayed by his side, but all I could do was watch helplessly. It wasn’t long before he came out of it, just as he had done before. With the oxygen mask in place, he slowly started to breathe again. The blue color slowly faded as his respiratory rate steadily increased.

Now everyone had seen it. During the blue spell, the heart monitor displayed a normal heart rate. Now there was no doubt. It wasn’t his heart causing the episodes. This was an entirely new problem. It was his airway.