September 6, 2012 Family Stories, growth hormone deficiency, lysinuric protein intolerace, missing fingers/toes, reactive attachment disorder 2 Comments

By Kathy, mom to Rachel from China with a SN of missing fingers

Eight years ago we adopted a little girl from China with a hand difference. We had lost our firstborn son to Trisomy 13 shortly after his birth in 1999. He had many visible anomalies, such as extra fingers and a cleft lip and palate along with his misshapen brain that didn’t allow him to live outside the womb. So, we thought the hand difference was no big deal, she was a few fingers shy, so what? We had fallen in love with her the instant we saw her picture on the waiting child list. To me she was cuter than the Gerber baby! The only disappointment at the time was that she was in China. You see, we had adopted our son, Evan, from Korea and then had added a birth son, Colby, 6 months after Evan arrived home. We thought we’d get a daughter from Korea, too. God had other plans!

The boys were only 1 and 2 years old when I found (God placed before me) Rachel’s picture on our agencies website. It took 11 months to bring her home. By then, she was 23 months old. Abandoned at 4 mos, and in the orphanage for 19 months. Our family praying diligently for her health and happiness for 11 long months. The longest *pregnancy* on record! My boys were turning 3 and 4 the summer Rachel came home. Our family was complete and Rachel fit right in.

A few months after Rachel was home, we had her see a geneticist to evaluate her hand difference. Rachel also has a “scar” on the crown of her head that the doctor looked at and within minutes gave us a diagnosis of Adams-Oliver syndrome. That scar is related to her hand difference! Something about a blood clot passing through while in utero stopped the growth of her fingers on her right hand and her scalp from closing. No matter. We are a family of lefties anyway. My two sons and I are also left handed!

Well, to make sure that the outward signs were not the only things going on, the geneticist recommended that we follow up with an ultrasound and EKG to check her vital organs. During the ultrasound, they discovered that her spleen was enlarged. That led us down a new road to many years of seeing doctors at the Denver Children’s Hospital to uncover the reason for her enlarged spleen. We have found along the way that Rachel is Growth Hormone Deficient. When she was 5, she still had shoes from when she was 3. Her feet weren’t growing and she was way below any numbers on the growth chart. All the while, we are finding Rachel to become The Pickiest Eater on Earth! So, I am telling all the doctors that she WILL NOT eat meat, eggs, cheese, pizza, chicken nuggets, yogurt, milk, etc., etc. and she throws up a lot: 30 times in the first 6 months home from China! Her favorite food is BROCCOLI! Not a “normal” child! And, they were telling me, she HAS to eat her growing foods. Dinner time became a battle zone, the last thing a young family needs!

Seven years passed by. A new doctor. More blood work. I lovingly call my daughter “my pincushion” because of all the blood draws. But this time they did a urine test, too! And, we had our answer. Lysinuric Protein Intolerance. Wow. Just Wow. 100 cases. In. The. World. 700 billion people and 100 known cases. No wonder it took 7 years!

Of the 100 people in this vast world that have LPI, fifty live in Finland, 37 live in Japan, and we now have 4 in the United States of America. How did we get a child from China that has this rare disease without any other known cases there? Somebody else there has to have it. Somebody else is going to bring home a child from China that has it. Seven years is too long to wait for a diagnosis of this magnitude. We now travel to Denver to see her Metabolic Inherited Disease specialist, a Pulmonary specialist, a Nephrologist, a Hematologist, an Endocrinologist and all that along with her Pediatrician, Pschyciatrist, and counselor here in town. Because Rachel also has been diagnosed with Reactive Attachment Disorder and a mood disorder. She is a complicated child. She is my child. She is my “Snowflake”.

And my Snowflake now has “her” diet. Which includes rice, potatoes, noodles, sushi, an occasional egg, rice, sometimes peanut butter or other nut butters, rice, fruits and veggies, rice, and lots and lots of Ranch Dressing! She drinks Gatorade, Kool-aid and soda to get more calories since she no longer likes juice. Oh, and more rice, please!

2 responses to “Rachel”

  1. Eunice says:

    I am the mother of one of the children in the U.S. with LPI. Our daughter is now 31 yrs. old and was diagnosed at the age of 9 so your story is so familiar to me. Feel free to contact me if you wish.

    • Kathryn Siltzer says:

      Eunice, I am just now reading your reply, some six years later! Thank you so much for letting me know about your daughter’s diagnosis. I would definitely like to be in touch! My daughter is now 17 and is doing better. Hope you and she are doing well. Regards, Kathy

Leave a Reply

Your email address will not be published. Required fields are marked *

© 2023 No Hands But Ours

The content found on the No Hands But Ours website is not approved, endorsed, curated or edited by medical professionals. Consult a doctor with expertise in the special needs of interest to you.