Welcome to my page! I am so glad you found me. I am a homeschooling mother to six children whom I love with all my heart. Three of my six children have a rare type of dwarfism called PAPSS2 Brachyolmia. Brachyolmia is a short-trunk dwarfism meaning instead of shortened limbs, my kids have shortened spines resulting from flattened vertebrae. While it is not a proportionate from of dwarfism, their proportions are close compared to those with other forms.
Many of my readers probably know me personally, but many of you do not. I felt it would be appropriate to tell you about myself which includes a lot about my kids. I am so proud of who they are becoming. I will try to condense as much as possible, but to understand who someone is, it is helpful to know where they have been.
My father is a retired pastor and my mother is a nurse. I met my husband, P.J., as a young teenager and we began “seeing each other” when I was 16. He is also a preacher’s kid and is now a pastor.
After two years of courting/ dating, P.J., proposed to me and we were married about 4 months later. A couple months after our wedding, I found out I was expecting our first child. I was so excited. I had always wanted to be a mother and to serve God full-time with my life.
I had a very difficult pregnancy. It wasn’t long before I began having severe morning sickness called hyperemesis gravidarum. I had to spend a short amount of time in the hospital.
After one of our ultrasound appointments, the doctor told me that my baby girl’s limbs had consistently been measuring short. I saw a perinatologist who ordered an amniocentesis and fetal MRI along with some high definition ultrasounds. The doctor had suspected a type of dwarfism.
Achondroplasia (the most common type of dwarfism) was ruled out. I was told that dwarfism runs on a spectrum from mild to severe, and that while we did not know what type my baby had, she had a severe and possibly had a fatal type. I remember him then saying that I was so young and it wasn’t fair that my first child was unhealthy and no one would blame me for whatever choice I wanted to make. My husband interrupted him because we are both against abortion and did not even want to hear those words. The doctor sent me to genetic counseling. I thought I would be learning about how to take care of my baby, but I was mostly offered information if I did not want to keep her. It was so disheartening.
I prayed so hard that God would give me a miracle and that my baby, Hayley, would be healthy. Every time I would pray this, I would have a sinking feeling like I was asking for something God didn’t want. After I would pray for a miracle, I would also tell God that if He needed a special person with this disability or any other to be born, I would volunteer. I wanted a miracle, but somehow I knew even then that He needed me to be her mother just as she was.
The day finally came when she was born. I went into labor four weeks early and she was coming very quickly. The doctor did not want Hayley to be born naturally because she was expected to have complications. A c-section was performed. I prayed so, so hard that she would be ok and that I would be able to take her home with me.
I waited breathlessly to hear her first cry with a team of several people around me waiting to resuscitate her. It was the most beautiful sound I had ever heard. I really did not expect her to come out breathing on her own since so many little ones with dwarfism struggle. Then I heard my doctor say the most puzzling words, “There is nothing wrong with this baby.”
Hayley was x-rayed shortly after birth and I was told again that she was fine. The perinatologist that we saw during pregnancy made a special trip to the hospital to see her because he said he wouldn’t believe it until he saw her himself. I thought God had granted us a very special miracle.
However, that is not where this story ended. P.J. and I wanted a big family. It wasn’t long before we had more children. The same sorts of measurements that were noticed on Hayley were also noticed on my third and fourth children, Owen and Vivien, but not our daughter, Natalie. Our doctor ignored these findings because of what had happened with Hayley.
It wasn’t long before our pediatrician became concerned about my three children who were not growing properly. This was a very slow and painful trial. I felt incompetent as a mother. Each child was sent to see an endocrinologist and they ruled out dwarfism even though I had told them about my pregnancy with Hayley. We were told they were normal, but just very short.
They were diagnosed with failure to thrive/ idiopathic short stature. I took the words “failure to thrive” as failure as a mother. We monitored their growth for a very long period of time, but they never hit the growth spurts we had assumed they would eventually hit. Our endocrinologist would say she thought they were normal, but she still wanted to keep seeing them. I began to grow very weary of appointments every 4 to 6 months that led to no answers. Emotionally, I was struggling with the back and forth of hearing that our kids were healthy and normal, then hearing they were not normal. I finally decided I was going to get another opinion before accepting that there was no medical reason for their short stature so I could finally let go and move on.
In January 2012, I was pregnant with my fifth child, Charity, who is of average height. I walked in to the first appointment with our new doctor. She walked into the room and immediately said, “Your kids have a skeletal dysplasia.” At that moment, I felt a huge sense of relief. I knew the reason they were so tiny was not because of me, but because they had a genetic condition. I was able to let go of a lot of pain I was harboring.
We sent x-rays to the International Skeletal Dysplasia Registry and to some doctors on the Medical Advisory Board of Little People of America. They were eventually diagnosed with dominant brachyolmia. (No one in our family has this). Around this time, our son Owen, also had received a false indication on a test for a missing shox gene and was wrongly put on growth hormone. We later were able to have him retested.
At some point, a test was made known to us for a gene called TRPV4 which was known to cause dominant brachyolmia. We were told that the kids all definitely had the dominant form because that is what their x-rays indicated. Hayley volunteered to have the test done even though it was initially mentioned to test Owen. She did not want to him to have to do the blood work because he was scared of needles. She is so selfless. That test came up negative as well. This was puzzling because we were told that all the other patients tested with dominant Brachyolmia were found to have that gene mutation as the cause.
I frequently look up brachyolmia in google searches to try to keep up on any research. I read an article in 2012 that a new gene mutation had been discovered to cause recessive forms of brachyolmia called PAPSS2. This was not discovered in the U.S. and in spite of all of my efforts asking our geneticist and the researchers, I could not get this test. They also said it was unnecessary because they were fairly certain from x-rays that they did not have a recessive type. They had the more severe flattening of the vertebrae that is seen in the dominant type.
In 2014, after having pain and mobility issues all summer, Hayley had emergency hip surgery after she finally could not bear weight at all on one leg and very little on the other. I was very upset this was missed at her appointments, but so glad that God allowed us to catch it before it could have taken her life. (If Hayley’s femurs had come completely out of socket, she could have had fatal internal bleeding or a more difficult surgery and recovery).
In 2016, I did a research paper on brachyolmia which prompted me to check around again for the PAPSS2 test for recessive brachyolmia. Our research doctors finally had the test, and were able to use the blood we had given them to do the test. I finally received confirmation that all three of my kids with dwarfism have PAPSS2 brachyolmia. P.J. and I both carry a recessive gene that caused this.
In 2018, in one crazy week, Vivien and Owen also had the same hip surgery that Hayley had. We got through it. God was there every step of the way.
We soon hope to make a trip to Nemour’s Children’s Hospital in Delaware to see doctors who are on the Medical Advisory Board for Little People of America. I am so thankful we will have the opportunity to see someone who has this kind of experience treating rare forms of dwarfism. Brachyolmia is a short-trunk dwarfism that usually does not become evident until mid-childhood and causes severe flattening of the vertebrae. Complications include bulging discs, spinal stenosis, and short stature.
I am thankful for how God made my children. I know God is in control over all of our health concerns. I am so blessed to me a mother to each one of kids: my average height kids and my short kids. God has seen us through so much over the years. There’s so much more than what I can include in one introduction.
So often I read on social media about mothers who are encouraged to abort their babies just because they have dwarfism and it breaks my heart. It hurts me to think of all the Hayleys, Owens, and Viviens that would be here if this were not so. I wish people could see the value of people beyond the bodies we are in. Each child is created in God’s image, and so special to Him.
“As thou knowest not what is the way of the spirit, nor how the bones do grow in the womb of her that is with child: even so thou knowest not the works of God who maketh all.” Ecclesiastes 11:5
It is my hope that this blog encourages other Christians in their walk with the Lord, and that its readers may come to accept Jesus as their Savior if they never have before. If the latter describes you, please keep reading this page to find out how. Jesus loves you, and it is so easy to accept His free gift of salvation.
- Know that everyone is in need of salvation because we are sinners. The Bible says in Romans 3:23 that “For all have sinned, and come short of the glory God.” We have all made mistakes in the past. Not one of us is perfect.
- “For the wages of sin is death: but the gift of God is eternal life through Jesus Christ our Lord,” Romans 6:23. A wage is something you earn. Just as we earn wages when we work our jobs, our sin earned us death. However, the story doesn’t end there. God wants to give us the free gift of eternal life through Jesus.
- Romans 5:8 says, “But God commended His love toward us, in that while we were yet sinners, Christ died for us.” God loves you in spite of your sin. It does not matter what you have done or not done in your life, you are so precious to God that He sent His only son Jesus to die in your place. That should have been you or me on the cross suffering, but God wanted to make a way for us to heaven. Jesus was the perfect (He never sinned like we do) sacrifice for our sins, which paid our sin debt in full.
- The Bible says we are saved by grace. We all deserve hell as a result of our sin, but it is faith in Jesus Christ that saves us. “For by grace are ye saved through faith; and that not of yourselves: it is the gift of God: Not of works, lest any man should boast.”
- “That if thou shalt confess with thy mouth the Lord Jesus, and shalt believe in thine heart that God hath raised him from the dead, thou shalt be saved. For with the heart man believeth unto righteousness; and with the mouth confession is made unto salvation,” Romans 10:9,10. It is not hard to pray, my friend. Talk to God. Ask Him now to forgive you of your sins and save you. He will.
- He never says no. “Whosoever shall call upon the name of the Lord shall be saved.” That’s you! Call on Him now.