One of the support groups I am a part of came up with an idea to write a book of some of our children's stories about their journey with 22q (DiGeorge Syndrome), here is our story.
** FYI, 22q and DiGeorge Syndrome are just 2 of the many names this syndrome is known by. 22Q 11.2 is the part of the 22 chromosome that these children are missing.
*** This story is quite long and not complete since time has passed since I wrote it. This version has not yet been edited.
This was our third pregnancy and we
were really hoping for a boy. Our
two girls were so excited to be going with us for the 20-week ultra sound and
to see their new baby brother or sister. Finally the moment arrived, “you’re
having a boy” we were all so excited, but our excitement soon turned to worry
when we heard “there’s some thing wrong with your baby’s heart”. My heart sank
and my mind began to race, so many questions popped in and out of my head so
fast I could even think. The doctor told us that the ultra sound is not always
perfect but that we would need to see a high risk team to double check.
The plan was to have the girls tell
their grandparents if they were getting a brother or a sister and both sets
were excitedly waiting for the call. In the back of my mind all I could think
was how are we going to break this to them when we don’t even understand it
ourselves. Still not sure what to
say we made the calls. The first part was easy; we just let the girls do all
the talking, but our turn came and we explained that they were unable to see
part of his heart and we needed to get a level two ultrasound to clarify.
Sharing in our fear they wish us all the best and told us to keep them
informed.
After what seemed like the longest
week of my life, up to that point, I finally had my appointment. Unfortunately
for me, my husband had to work that day and I had to go it alone. I put on my
brave face and drove the hour to the hospital, never knowing that this would be
the appointment to change our lives forever. It’s hard enough to be there worrying about your baby but
the fact they don’t say anything the whole time they’re doing the ultrasound is
madding. Finally the insanely long
ultrasound where I almost passed out twice because I was laying on my back for
to long, was over and it was time for the verdict. “Your baby has a Congenital Heart Defect called Truncus
Arteriosus Type 1 and 2 holes in his heart”. After a basic lesson on the hearts
anatomy and a poorly drawn picture trying to explain what was wrong with his
heart they told me that this type of heart defect is most often found in
children with genetic disorders such as Downs Syndrome and DiGeorge Syndrome.
Due to this fact they wanted to do an Amniocentesis and a FISH test to check. I
was at a complete loss for word and I just couldn’t wrap my mind around all of
it. It was all happening too fast! I was only 28 how could it be Down Syndrome,
didn’t that only occur in women over 35? DiGeorge Syndrome, what is that? I’ve
never even heard of it before. After pulling it together I agreed to the Amnio. There’s
nothing like watching a big long needle inserted into your belly, moved around
a bit to find the perfect spot and then pulled out again to freak you out. As I lay there waiting for the required
time to be up before I can move around again, I found myself thinking, how am I
going to explain all of this to my husband? The doctor must have seen the
horrified look on my face as I was leaving because he offered to set up another
appointment with a pediatric cardiologist to explain what it all means in
greater detail and answer any questions we may have along with my next
appointment to check the baby.
All I remember of the drive home
was the non stop flow of tears and the questions I cried out to God asking, Why
is this happening to us? What did I do to deserve this? Did I do some thing to cause this heart
problem? What are we going to do now? How are we going to get through this? Is
my baby going to live? By the time I got back I had no tears left and was
feeling so lost and alone, but the world didn’t stop just because I got bad
news, so I once again pulled it together, pick up the girls from the neighbors,
and ended my day by telling my husband what I could remember from the
appointment.
A week had gone by and I had done
my homework, I looked up everything I could find on Truncus. I had to know what
was in store for us, I needed good news, so when the cardiologist came into
talk to us about the plan, treatment and what we could expect I was feeling
well informed. We were also told that the initial test came back negative for
any genetic disorders but they were still growing the cultures so we wouldn’t
know for sure for about another week. We were so relived and thought; yes, this
is the good news we needed, no genetic disorder.
The call came 2 days later. “We got
the results from the genetic test and your baby had tested positive for DiGeorge
Syndrome” Then came the two words that I ended up hating for a very long time,
“I’m sorry”. I’m sorry is the normal response for most people especially when
they don’t know what else to say but I had hear it so much over the past 3
weeks from everyone. I didn’t want
anyone to say it to me ever again. I’m sorry isn’t going to fix my baby, I’m
sorry doesn’t make the hurt go away, I’m sorry isn’t going to save my baby’s
life and I’m sorry won’t make my life right again. After I got over the shock
from the news they told us that since this is a genetic condition it is wise
for my husband and I to be tested as well. We were also given an appointment date to see a genetic
counselor and social worker so they could explain what DiGeorge Syndrome is and
what it means for our baby and us.
Our next appointment answered a few
questions but left us with even more unknowns. We learned that neither of us have
DiGeorge so we didn’t pass it onto him. We learned that he would need surgery
shortly after birth to fix his heart, but other then that no one could give us
any definitive answers. The thing
I remembered most about that appointment was after telling us all the possible
things that could be wrong with him they asked us if we wanted to terminate the
pregnancy. I was shocked that they
would even suggest such a thing. Abort my baby just because he may have a few
problems. You’ve got to be kidding, I was not ready to give up on him and it
saddened me to think that he would never get a chance at life. We decided that
we would do every thing in our power to give our little boy a fighting chance
and if after every thing he didn’t survive then it was God’s will.
A week had passed and life was
finally starting to get back to normal. One night after putting the girls to
bed I started to have contractions, thinking that they were most likely Braxton
Hicks we decided to wait to call the doctor. An hour had passed and they
weren’t stopping so we made the call and was told to come in. After finding
someone to take our girls in the middle of the night we rushed to the hospital.
Sure enough at 25 week I was in preterm labor. I couldn’t believe this was
happening. All I could think was that we have to stop this; he’s too small and
would never make it. The doctor gave me a steroid shot to help his lungs
develop and then started me on a medicine that would stop the contractions but
would need to be given at the same time for the next three days. I tried talking them into letting me go
home and just come back every day because my girls needed me but the risk was
to high so I was admitted. If I
wasn’t stressed enough before I sure was now. How was I going to care for my
girls? Is my husband going to be able to get off work? How long would I have to
stay in here? Should I call my family and have them fly in from out of state?
What can I do to fix this? Then it all came to me, what I needed to do was to
just relax, let the medicine do its job and trust in my husband and the Lord to
do the rest.
After 3 long days of not much sleep
and missing my hubby and kids I was finally able to go home on strict bed rest.
Yeah right, bed rest with a 5 and 2 year old, that’s not going to happen. We
fell into a type of routine, I got the oldest ready for school, and then hubby
dropped her off and went to work. Reading books, watching movies, research and
nap time for the little one and me until sister came home, then homework,
dinner, bath and bed. I had doctor appointments every few weeks then every
week. We were getting closer and it was time to find a hospital and surgeon to
perform the operation. Living in between two children’s hospital it was only a
matter of picking which one, right? Wrong, who knew it would be so hard to pick
a hospital. After several visits to each and lots of prayers we finally had a
plan.
At 37 weeks I was finally off bed
rest. At 38 weeks I had non stress tests every few days. 39 weeks finally
arrived but our little one didn’t. Grandparents flew in and it was time whether
he was ready or not, so it was off to the hospital. 3 hours later our 6 lb 9 oz sweet baby boy was born. There’s
nothing like those first few minutes right after birth where they lay your
sweet baby on your tummy and you get to see and hear them cry for the first
time and then daddy gets to cut the cord. That amazing since of relief you feel
after knowing you did it and that every thing was going to be alright. Only
this time none of that happened, this time they held him up for a quick second
and then rushed him off to be checked. Instead of that great feeling of relief
all I got was terror, what were they doing? Why haven’t I heard him cry? Is he going to make it? What
now?
We were blessed and after his once
over they found him healthy enough to pass over and let me hold him for a few
minutes. He had this little squeak of a cry and I remember thinking how other
parents might be so worried that he would never be louder or would have a funny
voice when he started talking. All I could think was how blessed we were, we
even nicked named him our little squeaker. Our time ended to quickly and they rushed him off to the
NICU.
The next 24 hours were a blur.
Every thing seemed to happen so fast. I finally got to visit and hold him in
the NICU. They decided he was stable enough to be transferred to the children’s
hospital and called for the transport team. I really thought I was going to get
more time then that but within the next hour they were there to take him away.
This was the part I have been dreading every since we found out about his
heart. The part where they take my baby away to some hospital and I had to stay
behind wondering what was happening, if he was still stable, if they would need
to take him into surgery before I could get there. So with a lot of tears and a
kiss goodbye they took my baby away.
The plan was for my husband to
follow the ambulance to the hospital and my mom would stay with me until I was
released and then drive me to see him. Luck for us I had a natural birth with
no complications and they were willing to release me within the hour. It was a bittersweet moment leaving
that hospital. I was glad I didn’t have to stay the recommended 2 days and be
away from him for that long but it was also sad seeing other parents taking
their babies home and not being able to do the same. I was jealous and bitter
and some of those old feeling from pregnancy surfaced. I actually found myself
thinking mean things toward those parents for have a healthy baby, for being
able to take them home. It just wasn’t fair, why did it have to be my baby?
The drive to the children’s
hospital was the longest and most stressful drive. Traffic was awful, we didn’t
really know where we were going and trying to stay together in different cars
made it even worse. We finally arrived, checked in and found our way to the
NICU. There he was our littler squeaker hooked up to tubes and wires with
machines and nurses everywhere. After the shock of seeing him hooked up and the
relief of knowing he was all right, we settled and were told the plan. He was
healthy enough that they wanted to wait at least a week before doing surgery,
so now the waiting game begins.
There were no open rooms at the
Ronald McDonald House that night so we all went home to worried sisters and
grandparents. How do you explain
to a 6 and 3 year old why their baby brother didn’t come home and had to stay
at the hospital? That is the dilemma we faced, tell them too much and freak
them out or not enough and not have them understand. Since we were planning to
take them up to the hospital with us the next day we had to tell them some
thing. We settled on explaining that he was born with a broken heart and that
the doctors needed to fix it before he could come home. They seemed okay with
our explanation and were just happy to have mommy and daddy home again.
They next day we all loaded up and
headed to the hospital to see our little Squeaker. I wanted to be together as a
family because I knew it wasn’t going to happen again for a while. We took the
girls in first and finally after what seemed like forever our family was
whole. Next came the grandmas and
grandpa, then a little time for just mommy and daddy. It was getting late and
the girls needed to get home so saying our goodbyes we headed home. One more
night away from my baby, oh how I wish he could have been home with us!
We got a call the next day saying
they had a room for us at the Ronald McDonald House and we could check in any
time. I was so happy, now I
wouldn’t have to drive the 2 to 3 hours back and forth to be with him, I would
be just down the street. My husband had to return to work and my 6 year old had
school so taking my mom with me, we headed back to the hospital. Hour after hour, day after day we sat
watching, waiting, praying that he would continue to do well and that soon he
would get the life saving surgery he needed. They ran some tests and did a CT scan to get a clear picture
of his heart and put in a central line because his IV infiltrated and left him
with a bad chemical burn. The ENT told us that his airway was narrowed and that
he had extra skin around his vocal cords, which was most likely, the reason for
his squeak.
A few days later we got another
visit from our family. The girls kept hugging and kissing me and wanted to be
held every second they were there. It broke my heart knowing they missed me and
needed me but not being able to be there for them.
A few more days past and now I was
on my own, my mom had to fly back home, my husband had to work and his parents
were taking care of the girls. Every thing seemed to be going well with
Squeaker and his surgery was planned for the end of the week. Early the next
morning I got a call from the hospital saying that Squeaker had what they
thought was a seizure and wanted to run some tests to be safe. I made it to the hospital just in time
for the spinal tap but was told to wait in the hall. He’s never had a loud cry but I could hear him screaming as
they held him down and poked him. My poor little Squeaker! Was this ever going
to end? All I wanted to do was scoop him up and take him away from all of this,
but knowing that this was the best place for him. All I could do was hold him,
love him, pray for him and cry for him. All the tests came back normal showing
no signs of a seizure and surgery was back on.
But not for long, a couple more
days had passed and during a visit from the family his heart rate shot up and
he started having Supra Ventricular Tachycardia or as
most people know it a Heart Arrhythmia. After having a few more they placed him
on medicine to help stop them and moved the surgery to early the next week. I couldn’t
believe that this was happening all these crazy things just started popping up
pushing Squeaker further and further away from his surgery. I just wanted it to
be over and done with so we could go home.
Surgery
day finally came and so did the point where I had to hand over my tiny baby to
these doctors to cut open. I knew it was going to be hard but no amount of
planning can prepare you for that moment. My heart broke; time stood still and
every possible out come started flashing before my eyes. 1 hour passed then 2
little news came and still we waited, cried and prayed. 3 hours then 4 finally
some news, they had him on by pass and were patching his holes. Hour after hour
we sat there not wanting to move from that spot just in case they came out with
news. 8 hours then 9 finally they came out saying he was being taken off by
pass and they were finishing up. Another hour passed and another. When are we
going to get to see him? Finally the doctor came out and said that the surgery
went well, they were able to close him up and that they were happy with the
results. Squeaker did great and we could see him soon. It was the best news we
had heard in months, relief washed over me knowing he was going to make it. My
littler Squeaker was going to live and I owed it all to God and this man
standing before me.
I
had no idea what to expect when we walked into his room but nothing could have
prepared me for that moment. There were so many tubes, wires, and machines
hooked up to his tiny little body! It was heartbreaking to see your baby lying
there like that, but he was alive and doing well. The coming weeks would be all about healing and eating. It
turns out he was a rock star at both.
The
day we had been waiting for was finally here, after 34 days we finally got to
take Squeaker home. I didn’t tell my husband or the girls that we were coming
home and the look on their faces was priceless. I can’t tell you how happy I
was to finally be home together as a family. I knew that the road ahead was
going to be even longer and maybe even bumpier but for now life was great.
The
adjustment period that followed was insane. Around the clock feedings that took
so much time and energy, then I had to pump and store the milk, clean up, and
do it all over again. On top of all that he had doctors appointments and
therapy, I didn’t think I was ever going to sleep again. Weeks passed and he hadn’t gained much
weight and the doctors became concerned. He was already on medicine for reflux
and on thickened feeds but it seemed like more food was coming out then going
in. They added another reflux
medicine and had me fortify the breast milk with formula for the added
calories.
To
be honest I don’t remember much of the next six months. When thinking back it’s
all one big blurred together mix of doctors, therapists and life with 3 kids.
The number of doctors grew for 2 to 10 and it was hard keeping it all straight.
Blood draws for low calcium every 3 weeks, visits to the Cardiologist ever 3
months, swallow studies and feeding therapy, GI and ENT visits. Nutrition and
development specialists, immune and genetics, along with your pediatrician for
check ups and shots, it was all so much but we survived and it did get easier.
Months
passed and his reflux wasn’t getting better and the only solution we were given
was surgery and a G- tube. Not wanting to put him through another surgery we
got a second opinion and switched. She didn’t feel that the G-tube or surgery
was needed at this time and wanted to try a few other approaches first, which
was music to our ears.
Squeaker’s
first birthday arrived and with it so many mixed emotions. He has come so far
and was doing so well but he was behind in many things. He wasn’t walking yet
and soon would be getting AFO braces to help with that. His voice was still
very soft and he still wasn’t sleeping through the night so he needed a sleep
study. He had a Doc Band to fix his flat little head and was still struggling
with reflux and weight gain. But even with all of this we felt truly blessed
because it could have been so much worse.
Why they call
it a sleep study I have no idea because neither of us got much sleep that
night, but the results showed obstructive sleep apnea and the doctor suggested
that his tonsils and adenoids be removed. We scheduled the surgery along with a
bronchoscope to check on his vocals cords and airway since narrowing was noted
before and he still did not have a loud cry. The surgery was planned and went
well, they found signs of reflux and blisters lined his esophagus. His airway
was found to be even narrower then the first time they checked and they found a
laryngeal cleft that might need to be closed. It was stressful going in with
one concern and coming back out with several. So far the air way and cleft did not seem to be causing him
any problems so we agreed to just wait and watch them closely. As for the
reflux we felt that something needed to be done and yet again went in search
for a new GI who was willing to better address his reflux issues.
Squeaker did
so well after surgery and we were surprised at how fast and easily he went back
into his routine. One night about
a week after surgery he woke crying so I went to check on him. He had blood
coming out of his mouth and nose and was covered from head to toe. I freaked!
Grabbing him and my husband we drove to the closest ER. They got us in quickly
got him hooked up to the monitors but as soon as they found out he has a heart
defect they wouldn’t touch him. They didn’t even do an exam. We were left in
the room with him still coughing up blood while they tried to figure out what
to do next. I was doing all I could to stay clam and keep Squeaker comforted.
Why didn’t they do some thing? They finally decided to call the children’s
hospital to see what they wanted to do and within the hour an ambulance
arrived.
The EMT felt
it best to place a IV to get fluids started and incase they needed to give
Squeaker blood or medicine but the ER doctor refused to let them do it while
still in the ER. After a 10 minute argument and no IV Squeaker and I were on
our way to the children’s hospital. Once there the on call ENT took a look and
said they needed to do surgery to get the bleeding stopped. After about 10
tries to get an IV started they took him back and I was left alone in and empty
waiting room. It’s scary enough going through all this but doing it alone, not
knowing what is going on, was awful. After what felt like forever they came out
to get me. They were able to get the bleeding stopped and didn’t think there
would be any other problems. We were admitted for observation and released late
the next night. Thankfully he did recover without any other problems but by the
end of the next month he was scheduled to have his first heart cath.
We were
blessed once again and the heart cath came and went with out any issues. They
placed 2 stents and were able to increase his blood flow by 40%. The
cardiologist had high hopes that this fix would hold him off until around 5
before needing his next open heart surgery. Which his T & A and cath behind
us we moved on to the next pressing concern, his reflux and nasal regurgitation.
We found yet another GI and Squeaker was scheduled for a test to measure the
frequency of the reflux events. It was a 23 hour test where they placed a probe
down his nose to just about his stomach. He was admitted and tracked while
eating, playing and sleeping. Up and down the halls we walked. Back and forth,
round and round I pushed him in the stroller. Was this kid ever going to fall
asleep and let me rest? Morning couldn’t come soon enough but it finally did
and after 23 long hours we were finally able to go home. The results came back
a week later saying that he did have reflux but they felt it could be treated
with medication and Squeaker was started on yet another new medicine.
We made it to January without any major problems and was finally feeling like things were calming down but within the next few weeks we noticed Squeaker having difficulty breathing during his weekly physical therapy appointments. Thinking that it maybe heart related we called the cardiologist office just to be told that it was most likely exercise induced asthma. We didn’t feel great about his answer but thought it wise to check with his ENT just incase it was his airway issues starting to cause problems.
We met with
the ENT a few months later. He told us that it was more than likely Squeakers
narrowed airway causing problems and he would need reconstructive surgery to
enlarge it. I got the worst feeling in my gut and even after months it just
didn’t feel right so I went looking for other options. I am blessed enough to
be part a wonderful 22Q Deletion support group on facebook, the moms are so
knowledgeable and knew just what to do. Get a second opinion from one of the
best airway doctors in the nation. I was over thrilled to find out that he
practiced at a children’s hospital close to us and I made the call. His team of
nurses were wonderful and got us all set up for an out of state visit and
testing that would check on all Squeakers airway, swallowing, breathing,
hoarse/ soft voice and GI issues.
The testing
was set up for September, which ended up being the same time as the 22Q and You
conference in Ohio. It couldn’t have worked out more perfectly. I was able to
attend the conference on the way to our appointments and was able to meet
several of those amazing moms from the support group. I can’t express how
wonderful it was to meet those other families, just knowing that they
understand what we are going through because many of them are going through the
same things. To know that you are not alone in this journey helps in way you
can’t imagine.
We made it
to the appointments and Squeaker made it through the weeks worth of testing. He
did amazing and was such a good happy boy the whole trip. Thursday was the last
day of testing and the big day for answers. After another scope and another PH
probe we were cleared to go home. The doctors didn’t find any reason for his
breathing problems. They were able to clarify that the cleft and webbing were
not big enough to cause concern and they found little to no narrowing of his
airway. They suggested that maybe it was his heart. Not the answers we were
expecting but good news nonetheless. He wouldn’t need surgery but we weren’t
any closer to fining out why his breathing had become so bad.
The big
question, what now? Where else could we go for answers? We made an appointment
with a pulmonologist and was disappointed when his answer was she same as
everyone else. Not his lungs or asthma, maybe his heart. Back to his heart, it
has been almost a year of going from doctor to doctor with no answers. We were
beyond frustrated and Squeakers just seemed to be getting worse. Back to those
amazing moms and the support group to regroup. They gave me the courage to ask
for a second opinion on his heart and go against the word of our cardiologist
to get the answers we were looking for. I can’t thank these ladies enough for
all their love and support.
This ended
up being what Squeaker needed. His heart had been causing all the problems for
over a year and our cardiologist was unwilling to see it for what it was.
Squeaker needs another open heart surgery and it took that second opinion to
find it. I am so thankful that we never gave up and kept fighting for our
little man. He is an amazingly strong happy little boy who brings joy and
happiness to all he meets. We are truly blessed to have him as part of our
family and can’t imagine what our lives would be like if we had taken the
advise of the doctor and terminated the pregnancy.
Our journey
has been full of ups and downs and has even taken us down a few side streets.
It’s no where near over but knowing I have so many amazing people behind us
cheering us on, praying for us and supporting us reminds me that no matter what
we can do this and there is always HOPE!
