From the Beginning


If you are new this is a good place to start. The following is our very first post which you can find in the archives but we thought we would call it out for anyone looking for details. As we have researched Wolf-Hirschhorn one of the first things we do each time is to read the story of the diagnosis. We find it interesting how each family and their story is so unique. Here is ours . . .

Thursday, December 15, 2011

December 15, 2011 was the day of our 20-week ultrasound. I woke up with a nervous feeling in my stomach. There was something about this pregnancy that just felt off from the beginning. There were no signs or any reason I should feel nervous but there was just something that felt off. My parents and Nate told me not to stress or worry but something was in the back of my mind that would not go away.

When we went into the ultrasound I was anxious. I asked the ultrasound tech 3 things:
1) Please let us know when to look away as we do not want to know the sex
2) We did not get early genetic testing but can you confirm if you see any markers
3) Please take an extra look at the heart to ensure it looks strong
She was great and very sweet as she went through all the pictures. She told us things were looking good as she went through each area. Then we closed our eyes when she checked the legs and the kidneys . . . and she got very quiet. Nate and I joked around about if the other one was peeking but I noticed her silence. When we went through the ultrasound with Connor she was very talkative telling us everything looked good but this time she was quiet. We opened our eyes and I said, “things look okay?” and she was silent. She moved the ultrasound wand so we could see the profile and we got our first glance of our little guy/lady (we were calling the baby G2 at this time). G2 had a button nose and kind of looked like Connor’s ultrasound pictures but the overbite looked bigger than normal. HMMMMM.  The tech showed us one of the legs and the hand but the rest of the session she was not as talkative as we have seen her in the past. HMMMMM.

After she printed out the pictures and we went back to the waiting room Nate and I looked back at the pictures. We both noticed the “overbite” and the leg looked much skinnier and less muscular than Connor’s leg. We joked maybe it was girl as Connor looked like all boy but that feeling in the back of my mind/stomach/heart was coming back. There was something different about this ultrasound.

When Dr G. walked in she started talking right away deviating from her normal routine. We usually chit chat and discuss how I am feeling first. Instead, Dr. G walked in and said the words that changed our lives “I just went over your ultrasound with the tech and she noticed a few abnormalities. One of the feet looks clubbed, the nasal bone looks small, and the chin is slightly recessed.” WHAT?!?! “We have called over to Dr. S office and they can get you in for a 3D ultrasound right now. The doctor will not be there until 3 but the tech will do the scan and then the doctor will go over the results with you at 3.” WHAT?!?!?! “ Do you have any questions?” WHAT?!?!?

“What does all this mean” I finally was able to ask. Dr. G (I have been a patient of Dr. G for years and we truly feel comfortable with her as he did an outstanding job delivering Connor) said it may just be a developmental thing or it could be a chromosome thing. As soon as the word chromosome was used I knew that was a non-scary way of saying “these are markers for Down Syndrome.” WHOA!

Nate (who was already pretty late for work) packed up our stuff to go get a 3D ultrasound. Dr. G gave me a big hug and said “it will be okay.” And we walked to the elevators. “I knew, I knew something was off with this pregnancy” I half cried and sighed as we got into the elevator.

The two-block walk to Dr. S office seemed to take hours. We got to the office, checked in, and sat on the sofa crying. Our tech Maureen was amazing. She was sweet, helpful, and most important made us feel very comfortable as we sat through another hour of ultrasound.  She said each of these abnormalities on their own could be an anomaly but when they are all together they tend to point to a syndrome.

The worst part of the day was waiting 4 hours to talk to the doctor. Nate went to work while I went back to my parents to research “markers.” Only recently had I heard about soft “markers” but we had never really given it a second thought as we chose not to have early genetic testing.  During my research it seemed like the markers we had seen where pretty strong indicators of Down Syndrome.

By the time we got back to the doctor I was convinced we were having a child with Down Syndrome and our whole life would take a very different path than we had originally planned. . . . and I was okay with this new development. I had a sense of calm knowing that we would be great parents to a new baby with special needs.

Dr. S walked into the room and said “I guess I am the barer of bad news.” WOW, that is your opening line. You’re going to want to work on that buddy. He explained he had seen the following abnormalities on the ultrasound:

1) The sternum was concave or heart shaped pushing the heart slightly off the left
2) The right foot was club at the ankle (it can be club at the ankle, knee, or hip so the ankle was the best of the worst)
3) There is a small hole at the base of the spine, if confirmed it would be classified as Spina Bifida
4) The nasal bone is smaller than normal
5) Plus, the baby has a recessed chin
6) At this time the baby was measuring in the 10th percentile for weight

WHOA, guess he was the barer of some bad news. All we could say was what does all this mean. He was very, very unhelpful in answering our questions. We are not looking for a doctor to sugar coat what is going on or make everything positive; but if you are going to tell your patients you see 6 major abnormalities during their 20-week check-up you may want to give more detailed information.

We asked:
Gawels: What does that mean about the heart? The original tech said the heart looked fine is this affecting function of the heart?
Doctor: No, this is the least of our concerns

Gawels: Is it better to have a clubfoot at the ankle?
Doctor: With a shrug of the shoulders Yes, if your going to have club foot the ankle is the best place.

Gawels: With the Spina Bifida, is there a difference where the hole is located and the size?
Doctor: It looks like it is very small at the base of the spine, the smaller the hole and the lower it is the less severe.

Gawels: Can the nasal bone and chin correct itself along the way?
Doctor: shrug of shoulders
Gawels: Is this something that can be fixed?
Doctor: It would need to be assessed.

Gawels: What is the likely hood of the baby making it to term with a small birth weight?
Doctor: Shrug of shoulders. If he stays at the 10th percentile of weight he will be born around 5lbs or so but if he starts to plateau then it would be mean the baby had stopped growing.
Gawels: What can we do about that?
Doctor: Just monitor the baby.

We understand this doctor is not a geneticist and there are so many other factors we need to consider with regards to all this information but we had hoped to be given a little bit more information.

We felt very uninformed and concerned for the well being of our future child. The next step was to figure out if we wanted to get an amniocentesis so we could get definite answers.

That evening we had Nate’s holiday party. Life goes on and the Gawels are not negative especially if we do not have all the answers so we picked ourselves up and went to the party. We hung out for a few hours putting on fake smiles and laughs then we headed home to sleep through our first night of knowing our newest little addition was facing some challenges. The best part about crying for most of the day is it makes you very tired and sleep came very easily. However, waking up and getting out of bed the next day was the hardest part.

Friday, December 16, 2011

Getting out of bed was a struggle for us. Nate had to get up to go to work and I had to get up and be a mom to Connor. I asked my parents to stay for the day so I could have some physical, mental, and emotional support while Nate was at work. I also emailed my friend Erin who had recently gone through a very similar situation when she found out the little boy she was pregnant with had Down Syndrome. I needed to talk to someone to tell me something. Is it okay to be upset, is it okay to be concerned, is it okay to be scared . . . and really the only person who can do that is someone who has gone through it.

I will not go into the conversation details but I will say it was the first step in the healing process for me. After our conversation I was very comfortable with the fact we needed to have an amniocentesis. Erin did not force any decisions on me but hearing her experience and how she was able to prepare helped me realized I needed that as well.

Nate was still skeptical about the amniocentesis seeing as I was very much against it from the beginning as well as hearing about the risks associated with the procedure.  What changed? Why was I all of a sudden comfortable with this next step? The answer: Information! I had more information. I had talked to someone who had had an amnio and I was able to hear the true risks and how they change based on where the procedure was taking place (Northwestern, one of the best hospitals in the world) as well as the health of the mother.  We decided we would talk to the geneticist to get as much information as we could but my mind was made up, I wanted to know as much as we could about G2 so we could be prepared with the best team of doctors available.

Monday, December 19, 2011

Today was another hard day to get out of bed as today was the day we would make the decision about the amnio. When talking to Dr. G she gave me the information about the geneticist so we could set up an appointment for genetic counseling. We made the appointment for later in the day as it turns out he was going to be out of starting on Thursday, December 22 so we needed to see him today or we would miss him completely.

Dr. P was a great comfort to us as he had more of what we needed: INFORMATION! All positive information was not what we were looking for but we just needed information. Dr. P was able to answer all questions as well as give us more facts about the results of the ultrasound. He was very medical and explained what they would look for in an amnio. He had already scheduled the amnio for Wednesday, 12/21, however, we (mainly Nate) had some concerns and questions. 

After taking in all this information as well as they Erin’s information Nate and I both felt more comfortable about having the procedure on Wednesday.  Whew! The next few days would be tough, tough, tough!

Tuesday, December 20, 2011

Happy Birthday to me! I am hoping tomorrow brings us some wonderful presents.

Wednesday, December 21, 2011

I woke up feeling good, really good. Today felt like it was going to be a good day. Not sure why but something about today felt good.  At Dr. P’s office, he explained the amniocentesis procedure as well as the results we would receive. There are two types of analysis:
1)   FISH (Fluorescent in situ Hybridization) Analysis
FISH Analysis will tell if certain chromosomes are present and how many of those chromosomes are present. The chromosomes in question are what I call “The Big 5 Chromosomes” as they account for 99% of chromosome abnormalities. The Big 5 Chromosomes are 13, 18, 21, X, and Y -- Chromosome 21 is the one associated with Down Syndrome. The doctor would call us by the end of the day with the FISH results.
2)   Chromosomal Analysis
The Chromosomal Analysis analyzes the cultured amniotic fluid cells and takes a look at all 23 chromosomes. The science geek in me found this fascinating. They take a normal strand of DNA and color it red then they take the baby’s DNA and color it green. They put the two together and if it turns fully yellow then the baby’s DNA is normal. However, it a portion turns red then it shows the baby is missing a piece of that chromosome or if it turns green it means the baby has extra chromosomes in that area. Amazing how they can tell so much about a person in just 7-10 days.  Plus, they can also take a look for a specific protein that leaks from the spine when there is a hole (Spina Bifida). Basically, by the time the results come back we will know much more about the baby’s genetic makeup then we do about ourselves.

Before they started the amniocentesis, the nurse performed an ultrasound to look at the location of the baby and to get an idea of the baby’s size. Nate and I had decided we wanted to get to know G2 a little better so we asked the nurse to confirm the gender of the baby (we thought we had already seen “something” on a past ultrasound but we wanted confirmation). The baby was a little shy but after a few minutes she typed on the screen “It is a Baby BOY!!!!” Yay! Tears of joy filled my eyes because I was so happy to know Connor was going to have a little brother.  The nurse printed out a few pictures for us and went to get the doctor.

After the amnio we left feeling good, Nate went to work and I went to Corner Bakery to get a Orange Juice and a slice of their ridiculously delicious, high in calories coffee cake (I deserved it) and waiting for my dad to pick me up.  My parents were watching Connor so I was going to spend the day at their condo.

When the results come, I dreaded being alone so I stayed at my parents’ condo all day. Given it was the last day in his office we figured Dr. P would call with the results around 5ish so I just went about my day. Around 3p, I started to get antsy so I made a new cookie recipe -- Eggnog Cookies, which are like Christmas in one bite - yummy.

At 4:53pm, I received the call I knew would change my life (or so I thought). I went into the guest room and listened as Dr. P told me the FISH results came back NORMAL!!!!!!! Everything was normal with The Big 5 chromosomes. YES!!!!!! I knew it. I felt it. I knew today would be a good day. He said, this is good news and we should be happy about these results. There were still more analysis to do over the next few weeks but the results would be available in 7 – 10 days. I figured with the holidays it would not be until after the New Year but that was okay b/c we had the news we were hoping for: NORMAL results.

That was the last I thought about a chromosome disorder. Over the holidays, I tired not to think about Spina Bifida or other complications as maybe the baby was just developing slower but would shoot up after birth.  This was going to be a good holiday for us as we now appreciate how delicate life can be.

Tuesday, January 3, 2012

After a wonderful holiday with friends and family, I woke up with a bad, nervous feeling in my stomach this morning. It had been 13 days since we had the amniocentesis and we had not heard anything from the doctor. Every day I would get a text from the few friends I told or Nate asking if we had heard from the doctor with the final results. No we had not yet heard but why was everyone so concerned the baby is fine. Remember, 99% of all abnormalities are found in the FISH results and those were normal. No worries, we are good.

While at the gym, I received a message from Dr. P. Finally, he can put everyone else’s worries to rest. “Jennifer, Dr. P, please call me back as soon as you can. Thank you!”  HMMMMM, I guess he wanted to explain they found a little protein in the fluid confirming there was a small hole in the spine. So, I waited and waited and waited.

I put Connor down for a nap and waited.

2:00 pm CST, the call that truly would change our lives forever.

Doctor: Jennifer, Dr. P
Me: Hello Doctor
Doctor: We got your results back and we found a chromosome abnormally
WOW, just get right to it huh . . . . wait, did he say they FOUND a chromosome abnormality? No, how can they find something when the FISH results came back normal.
Me: Okay
Doctor: There is a small deletion on the short arm of chromosome 4. This has been classified as a very, very rare syndrome known as Wolf Hirschhorn Syndrome named after Dr. Wolf and Dr. Hirschhorn. I actually know Dr. Hirschhorn very well, he lives in New York and is now retired but he was the first to classify the syndrome.
Me: Okay
Doctor: I have been in contact with your doctor so she can prepare for your care and start talking to pediatric doctors.  Also, we will want to test you and husband to see if you are carriers as you can be a carrier with no symptoms.
Me: Okay
Doctor: I will send you a letter in the mail explaining this in more detail and you can set up an appointment with me to discuss further.
Me: Okay
Doctor: If you have any other questions please let me know. I am sorry.
Me: Thank You.

I hung up and just sat there. How can there be anything wrong? The FISH results were normal. We are the 1%?!?! I picked up the phone and called Nate at work to explain what the doctor just said. I don’t know anything about it so we will have to do some research.

I opened the computer and started researching while I called my parents. WOW, I did not anticipate what I found. This is a very, very rare syndrome that happens 1 in 50,000 live births and 2 to 1 in girls over boys. So the fact we are having a boy with WHS makes it ever more rare. WOW

Monday, January 9, 2012

As we get to know more about our little man we wanted everyone to know more about him as well so we are announcing his name. We wanted a strong name because we know he will be a fighter and a champ as well as an adorable name b/c he will be adorable. So his name is . . .

James Douglas (JD) Gawel
James is considered “one of the strongest of all names, an elegant, slashing verbal sword” according to our favorite baby-naming book
Douglas is considered strong and heroic and is Nate’s dad’s name
And we will call him JD, which is just charming

This name came to us on January 3rd, the day we found out the news. One of our friends said it best when she said “sometimes babies just name themselves” and that is exactly what JD did on January 3rd.

1 comment:

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