Rare, but Not Alone

It has been just over a year since we received Emmett's diagnosis. When we first heard of Xia-Gibbs Syndrome, there were only 4 other known cases in the world and very little information about it. I would find myself googling it every couple of weeks, in hopes of finding just one other family who could relate. About three months later, I received an email from a mother of another child with Xia-Gibbs Syndrome from halfway around the world. I was so excited! We quickly exchanged emails about our children and learned that they were very similar, not only in their delays and medical background, but also in personality and appearance. A few days later, I received another email from a family here in the U.S. This trend continued and over the past 10 months, we have been connected with 13 other families from all over the U.S. and Europe. The children range in age from 2 to 18 years old. I have never met a single one of them, but I am so thankful that we have found each other.

Our intimate, little group shares the good times and the bad. We ask each other questions and give advice. Even though we still have a lot of questions about the future of our children, it is nice to know that we are not alone in this journey.

Although I have connected with many people who have children with special needs and can relate to them in many ways, I felt such a sense of relief when I started to connect with other "Xia-Gibbs families". All of the children have a variety of medical concerns, some of which may not be related to Xia-Gibbs Syndrome, but it has been interesting to compare similarities.
I want to respect the privacy of all of them, so I won't go into great detail, but I will share a few general observations:

• Xia-Gibbs Syndrome causes hypotonia (low muscle tone) and developmental delays. Low muscle tone can affect fine and gross motor skills, speech development, eating, and breathing!

• Most of the children have or have had obstructive sleep apnea.

• Many of them have feeding issues of some kind. They have difficulty eating tough meats and hard fruits and vegetables. However, most of them love food, despite their limitations, and tend to stuff too much in their mouths. Some of them choke on thin liquids and must drink thickened drinks.

• Some are talking, some are not. The ones who are talking have difficulty with expressive language. Most of the children tend to get frustrated when trying to communicate, whether they can talk or not.

• Most of the children love music and are sensory seeking. They like tight hugs, being in water, feeling different textures, and tearing paper.

• Perhaps the most interesting thing that these beautiful children have in common is their love for people. They don't know a stranger and they love being close to others. Many of them hate to be left alone in a room.

These are simply observations that I have made and by no means am I claiming that they are medical fact. I am sure that as more and more children are diagnosed, we will continue to learn more about Xia-Gibbs Syndrome. The challenges we face can be difficult, but it is nice knowing that we are not alone. I hope to eventually meet these families face-to-face, but in the meantime, I am thankful that we are able to connect through modern technology.