Partial Trisomy 16q+
Finally I locate a place where we can relate. I can now tell our story. It was my first pregnancy at 29 years of age. It was uneventful and didn't even include morning sickness. At my second ultrasound we learned that we were having a girl. The doctor was a little concerned about the circumference of her head, but not overly so.
At 34 weeks gestation my water broke with no spontaneous labor. I went to the hospital where they planned to keep me until my due date, which was October 10, 1991. Each day they would take a sample of amniotic fluid which continued to drain to check her L/S ratios to determine whether her lungs were mature enough to function on her own. On the evening of September 11, 1991 her heartbeat dropped with a slow recovery. The following evening they decided to induce labor. At 4:10 am Friday, September 13, 1991, Shelby Megan arrived. Shelby's apgar scores were low and they had to intubate her to assist with oxygen. She weighed in at 4lbs. 11oz. They called in a genetic specialist and placed me in a recovery room with several other new moms, who all had their babies at their side, except me. That afternoon with the help of my husband we made our way to the NICU. A horrible place to have to go. The sounds of all the beeping and alarming non-stop were maddening. I can still recall the very event. That evening, the genetic specialist poked her head into my little corner that was curtained off from my roommates and their babies. She proceeded to ask my husband and I if it was possible that we were related. We were stunned. My husband is Hispanic and I am Scandinavian. The reasons that the genetic specialist was called in were because dysmorphic features were noted with some hypoplasia of the mandible, collapse of the nasal alar cartilages and a low positioned diaphragm on chest x-ray.
It wasn't long before Shelby was diagnosed with Trisomy 16. The specific statement was there was extra chromatin found on the long arm of Chromosome 16. They told me that there were few to no other cases in medical history of this abnormality. I am now discovering that this is incorrect. Shortly thereafter they urged my husband and I to have blood karotypes done on each of us to determine if one of us was the carrier. We did not feel that this was necessary to do. We did not plan to have any additional children and if we decided otherwise we would have the blood work-ups done to make certain that we weren't carriers. Having the work done otherwise was unnecessary and we didn't feel that we wanted to provide one side of the family or the other a place to point their fingers. It happens!
We left the hospital without Shelby. I visited daily and would stay throughout the day taking breaks outdoors only to escape the constant beeps and alarms that never stopped. We attempted to get Shelby to breast-feed but to no avail. Every time we did feed her she would get congested and begin wheezing. At which time her sat levels would drop, triggering the alarm to notify you when the saturation level fell below a preset level. While in the hospital Shelby began this twitching that they later described as clonic jerks which were not associated with electrical abnormalities on EEG. What we saw was just twitching. You know how a dog will start to twitch their feet while asleep, possibly running in a dream. The twitching never stressed her out and it happened more often when she was asleep and it never woke her. They felt it would be best to do a laryngoscopy, endoscopy and bronchoscopy to determine that all was well with her passage ways. The examination showed normal ear morphology, normal trachea and bronchi as well as bilateral vocal chords.
They called in a neurologist. Shelby also had a Grade I intraventricular hemorrhage. They did a sleep study that was inconclusive and decided to try to eliminate this irregular twitching by prescribing Phenobarbital. Once she was set up on 2 doses of Phenobarbital a day they decided to let me take her home. Shelby went home on her 18th day of life closely monitored by an apnea monitor. It wasn't until 4 months of age that we convinced the doctors that the Phenobarbital wasn't stopping the twitching and we didn't feel that it was needed. We then had to wean her off of the drug due to addictive complications that the drug has.
Once home, with the exception of endless doctor visits, (at least that is what it felt like) we fell into an easy pattern. I was no longer working and had the time to go through the long and treacherous steps that we have been through. When Shelby was born she never really opened her eyes more than just a slit. During her stay in the NICU I would ask many a nurse when she would open her eyes. No one really had a viable response for me. I began lifting her eyelids with my finger to see whether there was any activity behind her lids. There always was. Some slight nystagmus. After some visits with the ophthalmologist it was learned that the blood vessels in the retina of her left eye were growing improperly. A specialist in this field performed a total of 3 sessions under anesthesia to enable him to perform laser surgery on the retina of her left eye twice followed by one follow up to verify that the problem was taken care of. He claimed that she would have walking vision in her left eye and reading vision in her right.
The neurologist discovered what he thought to be a heart murmur and referred us to a cardiologist. We were also scheduled for an MRI to evaluate her head and the possible causes of her twitching/seizure activity. The MRI displayed no apparent growths or operable conditions. What was found was simply volume loss, more on the left side than the right.
Eventually Shelby began to use her thumb to lift her own eyelids as I did daily to make sure something was taking place under there. At one year of age she was diagnosed with ptosis and we were sent to see a specialist. The specialist had never heard of an infant lifting his or her own eyelids to see. So Shelby proceeded to demonstrate this during our initial consultation and he actually got a photograph.
Shelby was then diagnosed with a PDA, an ASD and bilateral aortic stenosis. No surgery has been performed yet but I am told at some point in her life she will more than likely require it.
Shelby began early intervention with the infant development program at 3 years of age. Receiving OT, PT and visually impaired attention. She was diagnosed with mild to moderate hearing loss in her left ear and moderate hearing loss in her right. She was fitted for hearing aids but once in it proved to be too much amplification and she wouldn't keep them in no matter how hard I tried.
Her vision is not great and until they can evaluate it under anesthesia again we aren't sure about its current levels. Shelby's development is severely delayed. She doesn't walk or talk. She has a weak desire to eat solid foods. It changes daily. Her primary source of nutrition is a liquid diet I'm sure many of you are familiar with called Pediasure and Ensure. Which as many already know, insurance does not cover the cost of because everyone must eat to survive and just because she requires something special does not mean they have to cover the cost.
In October of 1994 therapists had concerns with her hips. X-rays displayed dislocated hips. In December 1994 she underwent double hip surgery followed by 6 weeks in a body cast. Not a great experience. To date she still is not walking. The OT and PT that she receives through city schools is not enough. Now therapists are concerned about her ankle and want her to return to the orthopedic specialist to be fitted for braces. The double hip surgery and body cast did not change her ability to crawl and walk, what makes them think this will change if we proceed as requested?
She requires another ptosis correction surgery just as soon as I make arrangements to do so to install the permanent slings. During the last few years we have experienced many hospital stays due to dehydration. Due to her eating habits she has been unable to build up enough fat reserves to see her through the cold seasons. When she gets sick she won't take her bottle and it only takes about 24 hours before she begins to dehydrate. Most of the time she is admitted to the hospital, they hook her up to an IV to restore her fluids and then when she is eating on her own they discharge her provided I feel comfortable with it. In December 1995 she had a g-tube installed laproscopically. 4 months later we had them remove it because of lack of use and the fear of it being pulled out.
In December of 1998 after visiting the hospital 4 times back to back every 2 months we were approached about another g-tube. We allowed it provided that they could install the g-button and if it could be done without surgery. They were able to install a g-button endoscopically. No fundalplication was in place during either installation of feeding tubes.
We managed to stay away from the hospital for 8 months until she began vomiting. It got to the point where she was vomiting what they refer to at the hospital as "coffee grounds". Most likely due to the g-button which essentially is like having an ulcer. It was then learned that she had a urinary tract infection.
We just went through testing to rule out any kidney/bladder problems. The tests were non-conclusive.
The many medical procedures that the doctors want Shelby to go through with, I have a hard time allowing for. In the beginning I didn't know any better and many of the procedures they wanted her to go through happened with no obvious improvements. This makes me less likely to jump right out and do them.
We never hooked up with geneticists to push for more. We never requested a prognosis or expectations for life. We simply take one day at a time. We see that Shelby's needs are met and that she is comfortable and content. No matter how much is done to subject Shelby to a guinea pigs way of life in the medical field, the chromosome abnormality can not be corrected at all.
It saddens me to know how many are afflicted with this abnormality knowing that when Shelby was born they claimed there were few to no cases in medical history of Shelby's. Shelby is still totally dependent on others for everything. During our last hospital stay in July, clinical social workers were adamant that I see them before Shelby is discharged. During the previous stay when they set Shelby up with the g-button they wanted to meet with me because I was against another g-tube. I agreed to one before they could meet with me. When I met with them this last time they asked me if I was familiar with Children's Convalescent Hospital. I told them that I was. They asked me if I have considered it. I said absolutely not. They asked me if it's ever too much. I responded with only during these times. They then asked me if I would know when it was too much. I claimed that I hoped so and then I said as long as Shelby shows signs of knowing who I am and who her father and other significant people in her life I could never consider it. End of discussion.
Since I have been at it for almost 8 years now I have seen a great deal. If anyone would like to talk about it I would be more than happy to share our experiences and what knowledge we have. I will not apologize for the length of this story because I have always wanted to hear all the details of those who have been there too.