There is always HoPE

By Amy L. Springer, Guest Author

I learned that I was pregnant February 24, 1994. I had a sonogram like normal and all was good. I later started to have problems with bleeding, so we did another sonogram, which showed the baby to have a “lemon-shaped head” and I had placenta previa so a follow up sonogram was ordered. That sonogram showed that the placenta had moved and nothing more was said about her head. Then on November 3, 1994, I gave birth to a beautiful baby girl that I named Marina Kay Springer. Her first week at home she had to be on a billiruben light. She was diagnosed in May of 1995 with gastroesphageal reflux and put on two medications. Because Marina was so tiny and not gaining much weight, every time she got sick, she would be really sick and end up in the hospital for about 5 days.

When Marina was about 12 months old, she wasn’t sitting up yet or even close to walking, so our primary care physician sent her to the Capper Foundation for PT and OT. At her 15 month check up, her doctor decided that things still didn’t seem quite right; however, he didn’t think anything was wrong with her, but to rule it out, he sent us to a neurologist.

On April 18, 1996, I received my life-changing news…and i was alone. He first showed me a normal MRI, and then showed me Marina’s. I was speechless. How could this little girl who seemed so normal be missing so much of her brain and still function? I believe, her neurologist was just as shocked as I was. He told me that her brain was built wrong and that there was no cure. She would need a lot of PT/OT/speech therapy and special education her whole life. He told me we had to treat her individually, that she is much better than most children with the same diagnosis. He also told me that had they looked further into the sonogram that showed the “lemon-shaped” head, they would have found out that I was carrying a baby with HPE, and they would have given me a very grim outlook and probably recommended an abortion because these babies rarely survive birth or past 3 years old. He then ordered many tests, set up several appointments and had us go do blood work. When I left his office, got into my car the song on the radio was Ten Thousand Angels! I just sat there and cried.  I lost it.  I had no idea what I was going to be facing and was terrified of losing her.

All her tests came back normal, including her genetic tests. The only one abnormal was her EEG. Up to that point, she had not had a seizure. I think she was about 2 when she had her first one, and me being a nurse you would think I would be able to handle it, but in that moment, I was a mom who was afraid for her child. I had divorced my kids’ dad when my son was 5 and Marina was 2 1/2 years old, so once again, I was alone during her first seizure.

Marina also has bi neural hearing loss and wears hearing aides. She also received growth hormone injections, had thyroid problems, and also developed scoliosis.

She has defied all odds against her! She can walk, but not run.  She can write her first name and spell simple words as well as read some simple words. She has NO problem with her speech at all, and in fact, now that she is a teenager she has become even more bullheaded than before; however she is hard to understand. She has no concept of time at all. She is very OCD and so needs to stay on a regular structured schedule. She is also stubborn as a mule. She will do things her way in her own time–like walking, we tried and tried to get her to walk and finally called in a specialist and that very day she took off walking down the hall.  She was almost 3 years old. Her legs rotate to the left from the hip and has the flattest feet I have ever seen which makes walking long distances difficult.

Marina is now 23 years old and has since been on a Make a Wish trip around her 16th birthday and participated in a study for adults with HPE at the NIH in Maryland. She does continue to get sick frequently but is still the happiest little girl you can meet. She had some GI issues which landed her in the ER a few times and her GI doctor did a scope on her. She is now on medication to treat that issue which was related to her bowels not emptying. She also completed high school in the over-18 program and got her diploma when she finished school after she turned 21. About 2 years ago, she was also diagnosed with a REM disorder and increased seizure activity during sleep so more meds were prescribed and diagnoed with sleep apnea so she is on a CPAP machine at night. Other than that, all is the same and I would say she is doing very well overall.

Marina has brought so much joy and happiness into my life, I couldn’t imagine not having her. So to all those new moms or soon to be moms that are told their child has this, remember that the doctors are NOT always right. My daughter is a prime example.

She may have changed my life that day back in April of 1996, but it was for the good; I just didn’t know it then. And i wouldn’t change her for the world! So trust me, there is HoPE!