Ermine, Kentucky (KY) - Partial Trisomy 13

July 18, 2008 update

Grace Anne is 5 months old!
Grace Anne was born one week early in one hour. Like her older sister, she was born at 7:05am . Both of them seemed to want to be born before their siblings woke up. . Grace weighed 7 lbs. 10 ozs. At birth. Grace is the 7th child in our family. The oldest three are adopted, the youngest 4 are birth children. The first 3 days of her life, Grace Anne seemed to be a snacker, eating a little here and there and she did not have a very strong suck… which I was some concerned with but I thought I was probably worrying unnecessarily. It was probably just a difference in children. Grace looked very healthy. Grace and I went home and spent one night and 1 day at home before Grace stopped feeding and became unresponsive.

We took Grace down to our local hospitals emergency room and from there she was flown out to UK Children’s Hospital. Grace was initially hospitalized with severe hypoglycemia and a UTI (Urinary Tract Infection). Grace had about every discipline involved in her care during her two week stay.. To our limited knowledge, she was a “mystery child”. She especially had a time with low oxygen stats during feeding. We did not know about the possibility of her having Partial Trisomy 13 until near the end of our two week stay. At that time, we were "glad" to find that there were some answers to the mysteries of our child. It did not take us long to be overwhelmed with the immensity of Partial Trisomy 13. The hospitalization was very stressful when it happened, but it is a key factor in Grace being alive today. . The Doctors and nurses were very supportive in helping us to learn to how to help Grace. Many different tests were done to help us to know about the special considerations that Grace might need.
After testing was done, Grace was diagnosed with Partial Trisomy 13 and Adrenal Insufficiency.

Grace Anne often dropped her oxygen stats while she was feeding. She has reflux. She also had feeding issues in that she would suck, swallow, suck, swallow and forget to breathe. Grace is on medicine for her reflux. We also learned how to hold her and feed her.. Presently she is drinking breast milk that is thickened with rice cereal from a bottle. The combination of the thickening of the breast milk and the reflux medicine has helped control the reflux. Grace can now drink a bottle and her oxygen stats stay in the 90’s!!!

She has/had a PDA and a PFO in her heart. These have contributed to a slight heart murmur but have not caused any known difficulty.

Grace is seeing a Pediatric Opthamalogist for her eyes. The Dr. believes she has Microphthalmia. Grace has a small optic nerve in both of her eyes. We know that she can see some. She is seeing a Pediatric GI Dr. for the reflux from her stomach. She is seeing an Endocronologist for the Adrenal Insufficiency. A Nephrologist for the reflux from the bladder back up to the kidneys. She also has two tubes from one kidney to her bladder. The cardiologist for a PDA and a PFO. The Pulmonologist for the low oxygen stats. We see the Geneticist to help us understand what we are talking about. The ear, throat and nose Dr. to keep a check on her hearing. She failed the first test in her one ear several times. Then she passed the Bair Test. The Neurologist did testing in the hospital and wants to check again in several months. So far, everything in her brain looked well…

We have a team that consists of a nurse, socialworker and a chaplain who come out to the house and help with the care of Grace. This is made available through a program called Daniels’ Care. Daniels’ Care is run through our local hospice.

Grace also has a PT who comes to the house. She has an OT and a speech therapist whom she goes to see.
We have a very supportive local community, church, and family who have helped us in many ways.

Grace Anne is growing and learning more skills everyday. She is presently around 15lbs. 8oz. and 26 inches long. She eats 2 oz. milk mixed with a heaping 4 tsp. rice cereal about every 3 hours. After she eats we need to hold her upright for the next half hour so that she does not reflux. She sleeps from 10:00pm. thru 6:30/7:00 am. the next morning.
Grace Anne loves to snuggle and sleeps at the “drop of a hat” for small cat naps through out the day.
Grace Anne gets lots of attention from her sisters and brother. She is constantly being encouraged to participate in their play. She likes to play doll house with Helen. She needs to be constantly on the watch for her big brother Reuben… He likes to say “HI” and show her some of her fun, noisy toys. Grace knows that with Hannah she had better be ready to move fast… many places… Cydney is working with Grace Anne on her rhythm. (The therapists said that this is very important in her eating and breathing synchrony.) Cydney and Grace can often be found rocking on the couch and listening to music. Grace enjoys listening to Tiffany play the guitar… this will quiet her when nothing else seems to work. Grace enjoys listening to Stephanie read books to her, Reuben and Helen.
Grace Anne gets a special look of glee on her face when her Daddy rubs his beard against her face and lifts her up to do her pushups and her pull-ups. Daddy has always encouraged and teased Grace and she looks forward to Daddy time. J Grace Anne likes to snuggle with Mommy and is often carried here and there as Mommy goes from one activity to the next. A young lady from our church, Barbie, has been helping our family. Grace enjoys pulling her hair and being carried around by her.
Grace is sooooo pleasant to have around. She wants to be a part of what is happening. From around 2 months on, she fusses if she is not sitting on my lap, at the table, for supper with everyone else. Grace is “talking” by making varied sounds. She is not very active herself. She is enjoying pulling everything she can into her mouth at this time.
She looks at me when I talk to her. She often smiles. She enjoys “Patty – cake”. If she is supported around her turso, she can sit up for short periods of time. Grace is holding her hands open more now. She is working on holding her bottle. She can get her hands to the bottle and sometimes provides support for it. She has a low muscle tone in her torso and so tends to “sag” when she sits. She loves to push with her legs. Grace enjoys her bath in the sink. She has also had a bath with Helen and she loves to be lightly moved in the water.
Grace is a blessing!
 

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3-10-08

Hello,

We are Seth and Sheryl Long. 

Grace is one month old.

She seemed fine coming home from the hospital. She was home one day and then flown out to university hospital... described as lifeless... after 2 weeks in hospital... diagnosis... partial Trisomy 13...

Grace stabilized and started responding and gaining weight in the hospital. We are now home. Apnea monitor, O2 monitor, and oxygen are our helpers. One day at a time.

Seth and Sheryl Long. 
longss@tvscable.com