Monthly Medical Updates About Carmen

January 2008

18 month check-up, 27 lbs., 32 ½ inches
Carmen has her first Pulmonologist appointment. A lung x-ray shows mild clouding. We start giving Carmen nebulizer treatments, Pulmicort twice per day and Albuterol as needed. Carmen has a Physical Medicine appointment and except for her ankles, she is flexible. Carmen has a mold done of her ankles/feet to measure for ankle braces. Carmen goes to the GI Nutrition Center at Children’s and she is gaining weight rapidly so her calories are cut. She starts 3 ml of Reglan daily to help empty her stomach. Carmen goes in for her 18 month appointment and based on her labored breathing, her pediatrician orders a pulse oximeter and oxygen for our home. Carmen continues battling constipation so we give her both prune juice and occasional Milk of Magnesia. Last day of January, Carmen is admitted to Children’s for the G-tube (feeding tube in her tummy) placement.

December 2007

Carmen is admitted to Children’s for 4 days for NG feeding tube placement. She is sent home on 21 hour per day continuous feeds (56 ml per hour). She receives a 40 oz. mixture of vanilla Nutrin Jr. and water. A milk scan shows that Carmen has moderate reflux so she starts daily Prevacid. She is very congested so we start using a suction machine daily. Carmen has a neurologist follow-up and starts seizure meds, 2 ml of Keppra daily. Carmen receives private duty night nursing, 10 hours per night/7 days per week. Her nurse does chest PT and repositioning and suctioning to help her congestion and coughing fits. The ARC buys a bath chair for Carmen. Carmen smiles rarely.

November 2007

Carmen has a gastroenterologist appointment end of November. Her doctor is very concerned about aspiration and recommends NG feeding tube placement. Carmen is still eating well by mouth with thickened feeds but coughs after eating and is very congested. We meet with Hospice, Caring to start services. Hospice, Caring is a non-medical volunteer group to help with babysitting, running errands, etc.

October 2007

15 month check-up, 24 lbs. 1 oz., 30 ¾ inches
Carmen has a Brain MRI and a spinal tap to diagnose the Tay Sachs, AB Variant. The MRI results are consistent with changes in Tay Sachs patients. The spinal fluid reveals elevated GM2 gangliosides. Carmen is diagnosed with Tay Sachs, AB Variant. A lab in France offers to sequence Carmen’s genes so her DNA is sent to Dr. Wenger in Philadelphia and then on to France to find Carmen’s specific DNA mutations. Carmen has her first cold and we find Robitussin to be helpful in clearing out the mucus. We also use saline solution and a nasal aspirator to clear out dried mucus. At this point, Carmen has regressed tremendously. She no longer sits alone and needs head support. She stops rolling over. She does not reach for toys and cannot use her hands. She smiles and laughs rarely but is very content. She babbles only occasionally. We continue physical therapy to help keep Carmen comfortable and to learn the best exercises and positions for her.

September 2007

Carmen has her first neurologist visit and has an EEG to measure seizure activity. At this point, she is starting to have seizures (grimaces, jerks and mild shaking) but we decide to wait on medication until she seems uncomfortable and the seizures are more often. Carmen sees a physical medicine specialist who prescribes a bath chair and a Kid-Kart express adapted stroller. We are waiting on our insurance’s approval but most likely they will not approve the bath chair. End of September, Carmen has a modified barium swallow evaluation which indicates slight aspiration and we start thickening Carmen’s feedings. We add oatmeal to all of her purees and Thick-It to her formula. We find Avent’s variable flow nipples to work well for the thickened pudding consistency formula. Carmen’s skin biopsy comes back and she does not have Sialidosis. Her geneticist suspects she has Tay Sachs, AB Variant.

August 2007

12 month check-up, 23 lbs. 30 ½ inches

July 2007

Both Carmen’s pediatric ophthalmologist and retina specialist confirm the cherry-red spots. Carmen’s geneticist suspects Tay Sachs. Blood work comes back negative for Tay Sachs. Sialidosis is suspected and a skin biopsy and bone x-rays are performed. Carmen has her sedated Baer test and no hearing loss is reported.

May 2007

Carmen fails an initial hearing screening and a sedated Baer hearing test is scheduled for July. Carmen’s development has improved and she is sitting alone for brief periods of time and playing with toys and rolling around. Our biggest concern at this point is social interaction as Carmen has little eye contact and often does not respond to voices. We think this might be a hearing or vision problem or an attachment issue related to adoption.

April 2007

9 month check-up, 22 lbs. 4 oz., 29 ¼ inches

March 2007

Carmen is home 2 months before we have her evaluated by Maryland’s Infants and Toddlers program. We have been advised to give Carmen time after coming home to adjust to her new life before beginning therapy. She qualifies for services and starts once per week physical therapy in March at 8 months old. At this time, she ranges from 3 months (gross motor) to 7 months (expressive language) and somewhere in between for all other areas.

January 2007

6 month check-up, 19 lbs. 4 oz., 26 5/8 inches