By Trista Vlcek
February is Ectodermal Dysplasias Awareness Month, so I thought I would share my story.
In November of 2015, I gave birth to the most beautiful baby boy, Oakley. Oakley was born two weeks early by emergency C-Section. He was unknowingly breech.
From birth, Oakley had a very difficult time eating. I tried to nurse him but was very unsuccessful. He even struggled taking a bottle. He projectile vomited with EVERY feed. He quickly lost all of his hair, had red swollen eyes and was slow to gain weight.
At his one-month well baby appointment, he was placed on acid reflux medication and we were told he had a milk allergy. His doctor recommended I stop pumping and place him on soy formula.
For the next six months, Oakley switched to nine different formulas, was diagnosed with failure to thrive, coughed and choked with every feed and made weekly visits to the doctor’s office.
Ain’t Too Proud to Beg
After four months of begging, a referral was finally submitted for Oakley to see a gastroenterology (GI) specialist. The first available appointment was over a month away. I took it and continued to feed Oakley and take him to the doctors every week. By the time of the appointment, Oakley was only eight months old.
At Oakley’s GI appointment, the GI specialist was very concerned about Oakley’s projectile vomiting. He ordered a swallow study for the following morning. During the swallow study, Oakley was placed in a chair and given three different thicknesses of liquids. We could see an X-ray like picture of him swallowing. Immediately after ingesting the water-like liquid, it was evident that he was aspirating.
They thickened the liquid and gave it to him again. He aspirated that as well. The last liquid they gave him was as thick as honey. This liquid also made its way into his lungs. Everything Oakley drank went into his lungs. This study resulted in his admission to the hospital.
That evening, in the hospital, my mom and I had to hold Oakley as several nurses forced a feeding tube into his nose. This would be the way he would eat until doctors determined what was causing him to aspirate. It was extremely traumatic. My husband, Jeremiah, arrived late that evening to be with us in the hospital. He had stayed home to work because we were not expecting to be admitted.
What’s Causing Aspiration?
Over the next seven days, Oakley underwent several different tests. He had an MRI, chest X-rays, and had the nasty old crud suctioned out of his lungs. Oakley had another tube with a scope on it stuck up his nose for ENT (ear/nose/throat doctor) to evaluate. Every test was coming back negative. Doctors still didn’t know what was causing him to aspirate.
Finally, he had a probe placed through his nose into his stomach. He had to keep this probe in for 24 hours. This probe detected every time Oakley refluxed. The results were shocking.
Oakley’s acid reflux was so severe, it damaged his esophagus and caused him to aspirate. Within a day, Oakley was taken into surgery. He had a nissen wrap procedure and had a permanent feeding tube placed. He would only be able to eat by feeding until further notice.
We spent a total of 10 days in the hospital. After we left the hospital, Oakley started speech/swallow therapy three times a week. He had electrodes placed on his neck for 20 minutes each session to help him swallow. After six long months of therapy, he was finally cleared to drink fluids by mouth! We were so excited.
He was frequently checked to ensure he wasn’t aspirating. We were anxious to get his tube removed as he had pulled it out on three different occasions and it was miserable for him to get it replaced. The doctor told us to wait an extra two months to make sure he doesn’t have any further issues! Finally, the tube was removed and our little boy was back to normal.
A Dentist With a Diagnosis
Roughly three months later, I took Oakley to the dentist as he only had two little teeth that were starting to come in. His teeth were like snake fangs. They were so sharp and have made their way through his lip numerous times.
The dentist requested I have him tested for ectodermal dysplasia. She took several X-rays and informed us that Oakley only had a handful of teeth. She told us he would never have a full mouth of natural teeth. I thought, hasn’t this little boy been through enough!
A few months later, Oakley was tested for ectodermal dysplasia. It took a few months to get the results back. By this time, I was eight weeks pregnant with Raelah. We were so scared of a positive test and what that could mean for our children.
In November of 2017, Oakley was diagnosed with hypohidrotic ectodermal dysplasia. I immediately got tested as it typically is inherited as an X-linked disorder. My test was negative. Oakley’s case was a new mutation. There was almost no chance that Raelah would have the same disorder.
Oakley’s Team of Doctors
Following this diagnosis, Oakley had to see an ENT. In December of 2017, he got his tonsils and adenoids removed as they were extremely enlarged (he was only two).
Next, he saw a specialty dermatologist in Colorado that placed him on several different topical medications for his skin. His skin is constantly rashy, dry and irritated. He is hypersensitive to every chemical and can only use free and clear soaps and detergent. He doesn’t have sweat glands so he has a high risk of overheating.
Then, he saw a dentist in Omaha that created him little dentures. Oakley hated them at first but soon got used to them. He no longer wears them as he has gotten some molars in!
Lastly, he saw an allergist because he has difficult time breathing and puffy eyes. The tests determined that he has environmental allergies and pet allergies. This little boy has experienced so much in his short little life. He will have a long road of skin maintenance, and dental work.
He will be able to live a somewhat normal life. Although he has been through all of this, he is so extremely smart and compassionate. He attends preschool and we refuse to hold him back from anything. We love this little boy more than anything and have enjoyed watching him grow!
This is our reality and we will continue to raise awareness to hopefully find a cure! Thank you for reading our story, it was very hard for me to me share this with everyone!
Trista Vlcek is a guest blogger for the National Foundation for Ectodermal Dysplasias. She and her family live in South Dakota.
Thanks for sharing your story. We have a similar one. My son, with ED-type unknown, now age 5, aspirated liquids also. We did not know this was happening until 9 months old when he was hospitalized with pneumonia. He had silent aspiration. All those months leading up to the diagnosis of aspiration, he had gotten sick, with “chest congestion” but because he was never coughing while feeding, we did not know it was really the liquid going into the lungs. We had to honey thicken his liquids from 9 months old to 2 years old, when he was finally cleared to drink thin liquids again! (thankfully during this time he never needed a feeding tube). Wonder how many other ED kids went through this.
Thank you for sharing your story about your son. It sounds like he endured a lot before you were able to figure it all out. We hope that he’s doing better. Let us know if we can help in any way! ~ Jodi, NFED, Director, Marketing and Communication
I have to honestly say that I cried as I read your story. I pray and hope the very best for your son. Similarly, my one year old son has also been diagnosed with hypohidrotic ectodermal dysplasia and has been hospitalized 4 times since birth for pneumonia. He has dysphagia and has to drink honey thick liquid. His eczema is a constant battle even with the topical treatments we are using. I also have a six year old daughter with the same condition which I didn’t have diagnosed until she was 4. I am a carrier for the genetic change and sometimes that’s a hard thing to come to terms with.
I hope that things continue to go better for you and the family. You are not alone in your journey.
Hi, Erica. Our heart aches to hear what your little guy is going through. It’s a common experience for our families with HED. We would love for you to call our office and ask for Kelley. She can talk to you, provide you answers, offer you support to help you cope with all that you are facing. We are here to help! Give us a call at 618-566-2020. Things do get better and you, too, are not alone! ~ Jodi, NFED, Director, Marketing and Communications