Heart Problems ( tachycardia , ventricular septal defect repair, mild coarctation of the Aorta)
Acid Reflux disease
congenital anomaly of pancreas
Partially accommodative esotropia
Strabismic amblyopia ( eye patch + eye glasses)
Failure to thrive( gastronomy tube)
chronic ear infections ( Myringotomy)
Multiple Congenital Anomalies
Cardiologist : Naylah has been seeing the same cardiologist since my 20 weeks check up, when we found that she had coarctation of the aorta. At 37 weeks Dr. R. decided it was time for Naylah to be born since she was not gaining weight, making it more risky at birth if she needed surgery right away. The coarctation was mild, but we would go frequently to keep an eye on it. January 2013, Naylah had an open heart surgery to close her VSD, that was causing too much blood flow. She was also diagnosed with tachycardia, she would have episodes of SVT's bringing her heart rate to 240+. She takes heart medicine on daily basis to control it. Last episode of tachycardia was on October 2013, after a brief ABR (auditory brain response),to make sure she didn't have any hearing loss due to lack of speech. Waking up from the anesthesia and the stress must have caused the high heart rate. She was hospitalized for 6 days. She also sees Dr. S.( heart specialist) every 3 months. We are hoping on a near future, to try to take her out of heart meds and see if her heart does well without the medication. Otherwise she will have another procedure, once bigger and stronger.
Pediatrician : Naylah use to see Dr. R when she was first born, an amazing doctor, that let us go, because she did not agree with home health at the time I needed the most. She now see Dr. C. He is amazing. He has been good at listening of what I think is best for Naylah, at referring us to others specialists, and keeping up with everything she has going on.
Geneticist: Naylah has been seeing Dr. I. since we found out about her trisomy 5q on September 2012.
She couldn't inform us much about Naylah diagnosis. Last known case is from late 1980's, where not much detail was given. Naylah is the only one we know of with it, and as well in her medical circle. As much as we search, Nothing comes up. I have register her in many websites with hope to someday find someone else.
here are some characteristics of a child with trisomy 5q:
- small head
- failure to thrive
- heart issues
- low set of ears
- small mouth/jaw
- small nose with wide nasal bridge
- short neck
- developmental delay
- growth failure
Naylah is 2 years old, she is non verbal, does not walk, requires a feeding tube for extra calories, has heart issues, is globally delayed, has low weight and is small for her age. The reason we went to see the geneticist is because her cardiologist Dr. R. thought her ears sat too low and her feedings issues wasn't due to heart problems.
Naylah started seeing the GI dr. B a little before she turned one, after nearly a year of feeding her every couple hours like a newborn. Sometimes a small 2oz bottle could take hours to be finished and at that point she wasn't even a newborn anymore. We had tried everything. I strictly pumped for the first 6 months of her life before trying formula to add extra calories. Her eating was so poor that all you could find in our freezer was breast milk, I even used friends, family freezer to store some. I was making so much and her on the other hand wasn't eating enough. We were up all night feeding her. Until her pediatrician decided it was time to get extra help. When dr. B., saw Naylah, he right away gave us the option for the feeding tube. We didn't hesitate. It was, and still is what was best for her. She didn't have the energy for activities, she was constantly eating small amount throughout the day. May 2013, Naylah had her g-tube placed. The day of surgery she weighed 14.5 lbs and she was one year old. When we came home a couple days after surgery, she slept for 12 hours. We didn't and we couldn't believe it. It was just was she needed, it was going to help her grow. She also has acid reflux that requires daily medicine. Takes half a cap of miralex to help on her constipation. Had severals swallow study where it showed when smaller that she was aspirating liquid into lungs which required food thickener. Oral aversion, and trouble coordinating chewing and swallowing. She no longer requires food thickener as she is no longer aspirating. She still has trouble drinking big amounts of thin liquids and drink mostly yogurt and baby food along with her pediasure via tube.
Neurologist : Naylah had her first MRI done at about 4-5 months. the results came back normal. She sees Dr. G. once a year to follow up on her development. So far, she does not need anything else from him. Which makes this mama right here extra happy.
Otolaryngologist ( ENT): Naylah had her first set of ear tubes on May 2013 with dr. K., due to chronic ear infections. The tube placed in didn't help much, she was still getting chronic ear infection quite often and was always on and off antibiotics. She had her second set placed February 2014, but still had a couple of ears infection.
Third set was placed October 2014 and should last 3 years.
She also got her adenoids removed on May 2013. We see the ENT every 3-4 months. All her hearing tests came back normal and it is not what is causing her speech delay.
Ophthalmologist : Naylah as a baby had vision delay, for the longest we didn't know how well she could see. She couldn't follow light for a very long time or follow us. Dr. W. assured us that she could see and everything appeared normal. That it was just a delay. He follows up with her every 3-6 months . Right now, Naylah wears daily an eye patch for 2 hours on her right eye ( use to be 4 hours ) and requires glasses to help correct her strabismus and trouble seeing far away ( which he says can be common for small children) .
We battle everyday to force her to wear her glasses but have no trouble with the patching of the eye.
Dermatology : Naylah has bad eczema. Her skin is constantly giving us trouble. When she was smaller, it was much worse. Her face, sometimes. was almost bloody because it was so sensitive. Nowadays is mostly her body. She is constantly on and off steroids cream. It's really so far the only way to help her out.
Medical Equipment : Naylah has a Kaye walker to help on her walking. Even tho the first time they put the parts together and then put her in it broke my heart just a bit, because I never thought she would need "special things" to get to do things on her own, It is the BEST thing ever. She has made huge improvements, and we can see the day that she will start taking her first little steps, coming closer and closer.
Those poor knees need a break, seriously.
Therapy: She sees twice a week physical therapy to help on walking, standing , positions, muscle movements.
Twice a week she sees occupational therapy for spoon holding, finger grasp, sensory issues, hand movements , coordination, pen holding ...
three times a week she sees Speech. We work on sounds, board makers, sign language, songs, and feeding therapy.
Nutritionist comes out once a month to control her weight, height, head size. Calories count and help on finding more caloric food to help her gain weight. She is also getting Vital stim therapy.
Early interventionist comes once a week and she usually works on a bit of everything that the other therapists has been working on.
ECI case manager comes out once a month to check on things, take updates for anything important Naylah has been up to and give us info on what else we can do.
Home Health nursing: Naylah has a home nurse that comes and help out on feedings, medicine, heart rate and to give me a hand. They are the best thing EVER. Because of them I can get out, and know my daughter is in good hands.
Dentist: She sees dr. F. who is pretty amazing. Her teeth so far are great.
Surgeries, procedures & hospital stays
Genetics testing ( abnormalities)
Abdomen ultrasound ( intestines)
RSV ( respiratory)
Swallow study (3x)
Ear tubes surgery (4x)
VSD repair ( hole in heart)
blood drawn ( due to heart medicine she has blood draw every 5-6 months)
labs to check thyroids, liver, pancreas,...
Endoscopy with biopsy (3x)
eye muscle surgery
She had seen others specialists in the past such as allergist when her body was covered in hives, skin itching, constant runny nose ( results came back normal) and a plastic & reconstructive surgeon specialist. She needed a helmet to help correcting the plagiocephaly, but he said it wouldn't correct much since she was close to one year of age, so we left it alone.
Pulmonary : Naylah last specialist added to the list is pulmonalogist. After a bronchoscopy was performed they noticed liquid in her lungs. She is also having stridor at night. She will be soon seen in a aerodigestive clinic to better dertermine where the problem is coming from.