.

When It All Began...

Our journey searching for answers for our daughter's undiagnosed syndrome

When it all began... Pediatrician, Genetics, Neurology, Audiology, Endocrinology, Nutrition, Opthamology, Plagiocephaly, Physical Therapy, Occupational Therapy, Radiology, and the Neuro-developmental Program.

Not exactly what I had planned for my daughter’s first few months of life…

I often wonder about the exact moment when I knew something was different. Every time I thought something didn’t feel quite right, I always had some logical explanation to discount my feelings. My baby doesn’t move as much as the others…Well, she is probably just a more laid back person.  I wonder if I should have another ultrasound because I am worried about my baby’s health…I must just be overreacting. Every mother worries. I have so many things on my side. I don’t smoke or drink. I eat pretty healthy. I am not lazy and I work out, though perhaps not as much as I should. No family history of any problems that stand out and I am still young in my child rearing years. No, everything is going to be fine.

On the morning of April 22, 2011, I knew my daughter would arrive. I had tried everything my midwife had suggested and still had not shown any signs of giving birth. I was 42 weeks and running out of time for my planned homebirth. Was she taking so long because I was so scared to push her out or was something just not clicking? I kept thinking that I needed to trust my body but I could feel myself losing faith.  Finally, labor started and things began to go smoothly. I surprised myself at how calm I remained during each contraction. My whole family surrounded me, eating pizza and playing with Jessica and Matty, as they eagerly awaited their sister’s arrival. One last big push and out came her head, neck, and body. In a matter of a minute I had given life and was holding this beautiful miracle in my arms, which I had waited so long for.  As I held her in my arms, thankful the hard part was over, I was watching for my warm, soft, quiet little girl to take her first breath, but she didn’t. My midwife quickly and as calmly as possible grabbed my little baby and immediately started administering oxygen. I remember thinking that she never looked in distress, always calm and at ease. She just needed a little jump start. I don’t remember when I would look back at this as a sign of what was yet to come. 

Elizabeth Mabel, “Ellie,” for short, was finally here. We named her after my husband’s grandmother who had always had a special place in our hearts. She weighed in at 7lbs 13oz and 18 inches, kind of small for a baby two weeks past due. We questioned the dates, but everything confirmed them to be accurate.     

I spent the next few days cuddling, bonding and trying to nurse. Ellie loved to sleep, which made it very hard to rouse her to nurse. Then when she would try to nurse; it would take up to 2.5 hours just to get her to latch on. I knew she was having a hard time, but if I just stayed patient and kept working with her, hopefully, she would eventually get it. It was just too important to give up. 

And then came April 28, 2011. The infamous day that changed our lives, a day I will never forget. It was a follow up with our midwife. The appointment started off like any other appointment we had had except something was different. There was quietness in the room; an unspoken sadness that was palpable.  She leaned in and with hesitation, but uncomfortable courage, said, “I think there is something going on with Ellie chromosomally. I really don’t know what, but possibly Turners syndrome.” My heart felt like it had died. I could feel the adrenaline in my body beginning to rush as the outpour of tears like flood gates erupted. “NO! NO! NO!” pounded in my head faster and louder with every NO!.

A big part of me wasn’t surprised to hear this, just horrified to face it. I wasn’t blind to the differences in my baby. I saw what she did, the small stature, the small set eyes, the hands, the ears, the difficulty nursing. I just had hoped and prayed this was a mistake. I just knew I had to leave as quickly as possible to have our opinions completely contradicted.

Our midwife made some calls and got us in with her pediatrician within the hour. We thanked her and left to go to the doctors with Ellie and Mathew in tow. By the time we had arrived I could feel that my eyes were almost completely swollen shut. I had never cried and prayed that hard. 

They got us right in to see the doctor. She explained that it would be best to see the genetic pediatrician who would be in the following day. I thought, “How am I going to wait 24 hours to find out what was going on?” I had no choice. I was at the mercy of the doctors that I had always grimaced about seeing.  We left not knowing what to think.

I don’t remember sleeping that night: Just crying, wondering about the future for my baby. Does she have Turners or Downs Syndrome? Is she going to live a normal life? How could this be? I am too young to have this happen. How do I cope with this and what about my other children…what would I say?

My mom drove up the next morning to stay with Jessica and Mathew while we took Ellie to the appointment. Sick to our stomachs, my husband and I waited in the small exam room waiting to see the face of this person who would undoubtedly be able to tell us what was going on with our baby.  Several questions and a family tree later, she began her exam on Ellie.  She immediately ruled out Turners and Downs, but thought maybe Noonan’s syndrome could be possible. She did make it clear that not one thing seemed to jump out. We would proceed with genetic testing. It would take 2 WEEKS for results.

Finally, eighteen days later the test results were negative. Our daughter was fine. I was so happy to get that phone call, yet there was a hesitation to my happiness. Now what? The signs were still there.  My doctor suggested a second chromosomal test called a micro array and some x-rays.  The x-rays showed the normal bone structure of an infant her age. The microarray test was a nightmare.  Ellie might not be a great nurser but she is a good eater. Her adorable rollie pollie arms did not make it easy to draw blood. My poor baby, after six unsuccessful blood draw attempts, we were finally able to get blood for the next set of genetic testing.

During all of the testing, we were referred to another geneticist who we wanted to take a look at Ellie and see if he thought there was a sufficient amount of concern to continue testing.  We did this partly because of the familial influence.  First of all, we knew it was a hard position for the family to be in because they didn’t know what to say to us. And 9 times out of 10, it was the wrong thing to say.  We understood that everyone had their own way of dealing with this and coming to terms with the thought that there was a problem. The part that is the hardest is when people try and pretend like there isn’t a problem at all.

“She is fine.”

“Look at her…she looks perfect!”

“Just wait a couple of months and everything will correct itself.”

“Maybe she will grow out of this”.

People didn’t seem to understand that just because it may not have an official name doesn’t mean a problem doesn’t exist.  Several times we would hear, “well, at least it isn’t anything serious because all of those things were ruled out.”

Always, I wanted to say...”really? You know it’s nothing serious? Because nobody else seems to know what’s going on to make that assumption.“ Now I know everything said was said out of love and nothing was said with ill intent but what I have personally learned from all of this is that people shouldn’t always try fixing things. Sometimes just listening and not offering an opinion is the best thing you can do. And by the way, yes, the second geneticist said there were enough signs to necessitate further testing.

At 4 months old we still hadn’t learned anything new. All of the physicians have been very hesitant on making any type of suggestion for fear of leading us in the wrong direction. My pediatrician said at one point,” one of the worst things we could do is misdiagnose because then we stop looking at what’s really going on.” We were watching her closely to see if anything new would give the doctors some idea what was going on. 

I remember being at the park and seeing this adorable little girl in her stroller smiling and cooing at me. I walked over to her mom and asked how old she was. The woman told me her daughter was 3 months old. I immediately ran home and started searching for pictures of my other two children at 4 months. I wanted something to compare to. I cried the whole time. My kids had been smiling and playing by 4 months, bouncing in the jumper-roo and giggling at funny faces, and holding toys and sucking on toes. How come my baby was still acting like a newborn?

At 4 months, her head still had to be supported. Toys were of no interest and I had never heard her laugh. Smiling only happened on occasion when I would tickle her or when she was sleeping. The only comfort was believing that at least she knew who I was even if it wasn’t showing.  My doctor admitted she was growing more concerned. She put me in touch with the Audiology department, Birth to Three, Physical Therapy, and Plagiocephaly. I started booking appointments left and right, all of which were weeks out.

Finally, at nearly 5 months it felt as if we were starting to get somewhere. Birth to Three evaluated her on all levels and reported back to me that Ellie was showing a 100% delay. The Physical Therapy evaluation came back saying that Ellie scored at less than a month old in her abilities. They suggested that her brain was not communicating with her body.  Audiology has yet to determine what is going on. They have since referred us to an Ear, Nose and Throat Specialist.  

For our 5 month appointment with our pediatrician (who is also a geneticist). I went by myself with Ellie because we weren’t expecting to learn much.  Yes, she would go over the reports that we already knew about. Yes, she was showing a delay, and yes, science still has not come out with any new genetic tests. Brad, my husband said, “I don’t need to go to just hear her say that she can’t do anything!”

I completely understood and was fine going--just us girls. The appointment started off just like normal, socializing with the nurse and documenting her measurements. Soon after the Dr. came in. She reviewed the reports and took notes of all my upcoming appointments to start therapies. She began the exam and at this point everything seemed to be going right along. She asked me several questions and we chatted about things we wanted to see Ellie improve on. She then asked, “Does Ellie usually hold her hands in that position?” Not thinking much of the question, I responded, “Yes, all the time. I call it her praying pose because it’s so cute and makes me think she is praying.”

She put Ellie down softly and walked back over to her computer. She said she wanted to see Ellie’s measurements. Her numbers were always in the 1 percentile but were consistently on her own curve…until now that is. The doctor informed me that her head is no longer on her curve and isn’t progressing with the rest of her body. At first, I just felt kind of numb to the comment. I nodded as if to say: “what else is new!” The room got quieter and my very calm and laid back doctor seemed bothered more than I have ever seen her before.

I could see the hesitation in her voice and the sadness in her eyes.“I have something I want to say to you from a genetics standpoint but I don’t want to upset you,” she whispered. Well, after hearing that I can tell you I was very upset. I could feel my heart sink into my stomach and the adrenaline racing through my veins.  She uttered some words to the effect of “I think I know what this could be.”

My doctor who never dared to venture an out loud guess about anything thus far was about to give me a name.  She said she needed to go call the lab first and see if they still had Ellie’s DNA or if they would need to poke her again and walked out of the room. ARE YOU KIDDING ME? You leave the room after making a comment like that? I have no idea how long she was gone but when she came back the first thing she said to me was, “Are you going to look this up online? Because I really don’t want you to.”

I didn’t know how to respond. I told her the truth when I said I wouldn’t but I am sure my husband would. I asked her to please give me enough information so that I wouldn’t need to look it up. She then cautiously said, “Retts Syndrome. A serious condition that affects 1 in 12-15,000 girls.  It is basically a switch that doesn’t turn on in the brain.  Most have seizures and only half can walk and talk.”  I took a deep breath and asked if this would affect her lifespan. She said no but that she would need assistance for the rest of her life.  I tried so hard to keep it together. I said this was not the plan I had in mind for my baby’s life.  The doctor said the lab would call her back in a few days and if they were out of Ellie’s DNA they would just take it when she was sedated during her MRI. NIGHTMARE, NIGHTMARE, NIGHTMARE!!!

Now, at 9 months old Ellie is still undiagnosed.With every new sign and symptom comes a possible diagnosis and a roller coaster of emotions. Retts Syndrome turned out to be negative, thank goodness, and now onto the next.  I realize that this is the only way it can be in order to get an answer. Ideas of new syndromes to test for, hoping for answers but praying she doesn't have it.       

Someone close to me said in a jokingly, seriously way, “Katie, you have changed!” At first I was like, “hey, you are the one who has changed,” but then I thought about it. Of course, I have changed. How could I not have? My world has been turned upside down, flipped, spinned, ringed out, and dumped on. My old dreams are left behind and realities have changed. I forget things on a daily basis. My husband describes me as constantly distracted. I can be with a bunch of people and still not really be there. 

I am easily distracted and can’t focus on anything. I find myself listening to someone’s story but not able to tell you a thing about what I’ve heard.  I will be laughing at something funny when the tears will decide to come. I am able to control the big bursts but not always the small ones. I want to take her and run and hide. I want to push everyone away who doesn’t understand and yet I don’t want to feel so alone. I want to shelter her from the pain I know is imminent and the pain I haven’t even begun to know. The stares and comments. People feeling uncomfortable in her presence because she is different, no doubt due to their own insecurities and even mine as well.

I love her and my family more than anything in the world. I would do anything for my family and it kills me inside to think I am helpless. I used to think about my daughters shopping together, getting married, having babies and families of their own. Now I pray for a smile or to hear an I love you mom. I have so many questions about her future and what she will comprehend.

My hope is that someone reads this and finds some peace in knowing that they are not alone. I read a story a woman had written about her daughter and their struggles. I cried through the whole article as if it was my own words being spoken. Strangely enough, I felt some relief that I wasn’t alone. That I didn’t need to have a name for this syndrome in order to get support. So I hope this can do the same for someone else…

Clinical  Findings:

  • Failure to Thrive
  • Global Developemental Delays
  • Microcephaly
  • Short Stature
  • Dysmorphic Features
  • Hypotonia
  • Osteopenia
  • Esotropia

Still researching her hearing- she has not passed a hearing test yet due to fluid

Tests:

  • Karyotype / Chromosome analysis
  • Gene Sequencing (single) 
  • DNA Microarray
  • MRI

Other Tests:

  • Metabolic Screen, Amino Acid Blood, Pyruvic Acid, Lactate, Ammonia, Organic Acids
  • X-Rays (Arm, Leg and Spine)


Rett Syndrome -Negative
Prader-Willi Syndrome - Negative
Cohen Syndrome - Negative

This post is contributed by a community member. The views expressed in this blog are those of the author and do not necessarily reflect those of Patch Media Corporation. Everyone is welcome to submit a post to Patch. If you'd like to post a blog, go here to get started.

Cheryl Allred April 01, 2012 at 12:11 AM
Katie, as I read this post the tears began to flow uncontrollably. The things you feel and share mirror my own in so many ways. Having raised a child with special needs and then seeing someone else share those feelings is validating even after all these years. I am so glad you have a support group and avenues in which to expel those emotions. When my daughter was diagnosed at age 2 with Type one Diabetes I felt so alone because nobody had a child with this disease and the adults all had horror stories to tell me. Support groups were lots of older people sharing all the problems they had so my husbland and I chose to avoid them. My child is now 35 and a mother herself. The only thing that kept me going was my faith in God and my sister telling me that God "chose" me to be her mother because I was the only one who would do what was best for her. Many times I have had to place her in his loving arms and just let go....Katie, I have no doubt that God chose you as well. I will keep you in my prayers and ask God for an answer.

Boards

More »
Got a question? Something on your mind? Talk to your community, directly.
Note Article
Just a short thought to get the word out quickly about anything in your neighborhood.
Share something with your neighbors.What's on your mind?What's on your mind?Make an announcement, speak your mind, or sell somethingPost something
See more »