Karotype:  46,X,der(X)t(X;3)(P11.3-P13)
DOB:  6-22-98
Contact:  Diane & Doug

Meredith was born on June 22, 1998 and was diagnosed with Trisomy 3P Syndrome.  Part of her X chromosome is missing and an extra part of the third chromosome is attached to the bottom half of one of her X chromosomes.  Because this affects her X chromosome, she has features of a child with Turner Syndrome. Some of her features and challenges are; a flat bridged nose, small features, small stature, wide spread nipples, short stubby hands/feet, microcephaly (small head), severe sleep apnea, reflux and hormonal issues.  Fortunately, she has no congenital heart defects or renal deficiencies, which are a characteristic of the disorder.  When she was around 7, she received the diagnosis of Autism based on her communication skills and behaviors.

She currently is in the Lifeskills’ classroom, which is for moderate to severe disabilities.  Her cognitive level is around a 4-5 years old with very limited speech.  She uses little words, a lot of approximations, gestures, signs and pictures to communicate.  We have used a voice output device with her however, her current device is broken.

Physically she is the furthest ahead in her abilities.  She thoroughly enjoys swimming, jumping on the trampoline, going on bike rides in which she rides and hasn’t started peddling yet.  Fine motor ability is difficult but getting better.  She has associated reaction where one hand does the same as the other hand.  Her speech is the furthest behind but has improved after we started administering Vitamin B shots for her.

Meredith has come a long ways since she was first born and had severe reflux with major oral sensory issues.  On average she would vomit up to 5 times a day which caused her to receive the diagnosis of failure to thrive.  She received a feeding tube (g-tube) when she was 15 months old and had it removed at 4 ½ years old.  We never stopped orally feeding her but yet kept trying to overcome her oral sensory issues.  We worked with a feeding specialists who had us feed her with a syringe that we shot food into her cheek area so she wouldn’t try to gag and vomit.  This was a challenge but we finally made it to the stage of grinding the food where she learned to tolerate the food via a utensil.  Around 4 years old, she was able to start eating soft table food and gain weight so she had the feeding tube removed.
This was a long road but with help of sensory integration and a feeding disorder therapist, she finally pulled through.

She started sitting up around 9 months, crawling at 15 months old and walking at 2 ½ years old.  She had so little speech (babbling) but was always smiling.  She had to wear braces to correct her stance and gate.  Early intervention with therapy was started at 4 months and still continues to this day.  Her biggest challenge right now is to reduce her screaming when she wants her Mom’s attention, doesn’t want to do something or is requesting something.  She knows the power of communication but still resorts to the screaming to get quick attention.  We’re hoping the behavioral therapist can help us with this obstacle.

Some of her other challenges have been; her severe sleep apnea and the yeast overgrowth in her digestive tract.  Severe snoring that doesn’t allow her to get restful sleep causes her apnea. She has had her tonsils and adenoids removed, her turbinates (nasal) reduced, and a recent surgery to pull her tongue forward so it doesn’t cut off the oxygen flow.  Ultimately, if she would use the C-pap mask she would sleep better but she purposely vomits in it to get it removed.

In addition, she currently is taking hormonal medication to push her into puberty since her body hasn’t been able to do this on it’s own.  Under guidance of her doctor, she takes several supplements to try and help get her immune system stable, help with behaviors and speech.  In addition, she can get an overgrowth of yeast in her gut if it’s not controlled by diet.  By eating the Specific Carbohydrate Diet that consists of fruits, vegetables, meats, nuts and hard cheeses, it can be controlled.  She only drinks water and almond milk and we make her bread, pancakes crackers and special foods.  As a family, we prepare her diet for dinner and several other meals.

Even though these may seem like a lot of challenges, she is an amazing, beautiful child that has conquered so many challenges.  She is very courageous and taught us to be patient and kind to those with limited abilities.

If you would like to contact us below, we look forward to helping you in any way.