Partial Trisomy 16q+
Meghanne was born on September 29, 2001. She is a lovable sweet baby and loves attention. My pregnancy was normal other than having constant nausea. All tests came back negative. I had my first ultrasound at 14 weeks gestation and everything was normal for a 12 weeks gestation. So they decided to move my due date from Sept. 28 to Oct. 13. My second ultrasound was at 24 weeks and again the baby was by average only big enough to be 22 weeks. They decided to keep the due date this time. The first ultrasound worried me a little but this time I was really worried that something was wrong, even though they said not to worry.
On Sept. 28 I was having mild cramping all day long, but I didn't think anything of it because I have been hav1ng mild cramping for the last 2 weeks. But later that night I knew that I was in labor, so I called my husband at work and we got to the hospital just in time. I was fully dilated and one hour later Meghanne was born at 7lbs 2oz and 19 3/4 inches long. It was a pleasant short labor, two pushes and she was out. I was so happy to finally hold the baby that was growing inside me.
When they put her on my stomach I noticed there was something wrong, she didn't have a cry. It was a very weak hoarse cry and it scared me. They took her over to the warming bed (there was no NICU) and immediately began working on her. They noticed she was having difficulty breathing so they gave her oxygen and put an IV through her umbilical cord. It was then that they noticed there were only two vessels.
Meghanne was noted the have micrognathia (small chin) which caused her tongue to fall to the back of her mouth, and this is why she was having difficulty breathing. But that still didn't explain the weak cry.
Meghanne was then sent to a bigger hospital with an NICU. I was released right away so that I could go and see Meghanne (there were no available beds in the other hospital). They told me there were no complications so I could leave. I was happy to do so.
When I got to the NICU she was hooked up to so many tubes and wires and it was scary. All the beeps made me nervous. But I knew I was lucky that she was still alive.
Meghanne had a scope put down her throat to see if there was nay blockage. It was all clear and the Dr. gave the go ahead to start feeding. At that time she was given only fluids. I tried breast-feeding but it seemed too difficult for her. She had difficulty feeding from a bottle as well; she had a poor latch due to a combination of a high palate and micrognathia.
Here is a list of noted problems at birth:
Meghanne had a small VSD which is now closed on its own. Her right ear
was slightly abnormal( cupped), She had a small head, bilateral fifth
finger which was slightly turned in and slightly clasped thumbs. Her toes had underdeveloped nails, especially the big toes, she had irregular positioning of the middle toes. She has a short neck, long tapering fingers, a dimple in the crease of the buttocks between the vagina and the rectum. She also has a broad nasal passage and tip, with a narrow nasal passage and small nostrils. She also has a thin upper lip and a down turned mouth.
When we met the neonatal doctor her told us he thinks Meghanne may have Pierre Robin Sequence, but that test came back negative. He then wanted us to get blood work done and then referred us to a geneticist. The geneticist told us that Meghanne had an extra piece of 16p attached to the end of 16q. She said there were no other cases like Meghanne's and that she didn't know what Meghanne would be like in the future. She did tell us that there is a chance that she will be developmentally slow, and that was all she could tell us.
Meghanne has also failed her first two
hearing tests. The third hearing test could not be completed because she
was too fussy and the results were not clear. Her fourth hearing test
was good. She has a little fluid building up in the left ear and the
right ear is clear.
Today Meghanne is doing well. She is currently seeing a PT, CT, and is on a waiting list to see an OT. She just recently started to reach for and grasp objects. We are currently working on rolling over and sitting up. She has a lot of muscle tension in he arms and keeps them bent most of the time. She also likes to arch her back a lot when in a sitting position. At five months she began to smile, that was a terrific time.
I look forward to hearing from other parents.
UPDATE JANUARY 2004
Much has happened since October 2002. We have been through a lot of ups and downs with Meghanne. In November of 2002, Meghanne began having what is described as "grand mal" seizures. It was very scary. John had just gotten up to get ready for work when he noticed that Meghanne was not quite right, the day before she had, had between 60 and 70 absence seizures. We called the ambulance and they came right away and took her to the emergency room at Hotel Dieu. They took her immediately and started to work on her. She had several seizures in the ambulance on the way up there . They were able to stop the seizures and gave her something to sedate her. She was finally able to rest. We don't know how long throughout the night she had been seizing. When Dr. Morgan arrived she admitted her to the paediatrics unit for overnight observation. She was released the next day with a prescription for Valproic Acid, as well as for an inhaler and aero-chamber.
She was discovered to have asthma as well.
In January of 2003 we went to see Dr. Siu for a genetics follow-up appt. She said that Meghanne seems to be doing fairly well and is not too concerned over all about her development. We already know that she is delayed and will continue to be delayed but she is still improving in her development. She took her measurements and Meghanne falls in the 25th percentile for her weight and height. Her fingers fit into the 3rd percentile, her head falls below the 2nd percentile and her ears are in the 75th percentile. We need to be sure that her head circumference pattern does no go down or she could have more complications.
In April 2003 Meghanne saw Dr. Cooper as her follow up appt. was scheduled. She did indeed need glasses. She is near-sighted in both eyes, her right eye worse than the left. She doe not tolerate them too well. She pulls them off a lot unless her hands are occupied and her attention is deferred from her face. I am not sure if they have made any improvement yet in her sight. When we are outdoors I notice more change than when we are indoors. She looks around more often and is more aware of her surroundings. I will keep trying to get her used to her glasses. She seems to think that since she does not like to wear glasses that no one likes to wear them and tries to pull off everyone glasses. She will now follow-up with Dr. Hawkswood in February.
Again in April 2003 Meghanne saw an ENT specialist, Dr. Abdallah, about her hearing. She went in for an ABR in May and the results came back as mild to moderate hearing loss in both ears. Later that month we went to see an audiologist to confirm the results of the ABR and to see about hearing aids for Meghanne. It was not until September that Meghanne finally got her hearing aids after a struggle and a few mix ups with their office. We had to wait for approval from the Government and they for some reason had forgotten to apply and then felt that I was supposed to apply. It really was a big mix up. The important thing is that she has them now even though I feel she does not need them. I think that because it has taken so long for her to get them (4 months) I feel her hearing has gotten better. I suppose she would need a whole new set of testing for this to become a reality. Meghanne does not tolerate wearing them well at all. She has a habit of playing with her ears on an almost constant basis, the moment she feels something different she pulls them out. She cannot lay with them in her ear because they whistle and I cannot leave her alone for any length of time because she will pull them out and chew on them. I feel they are more trouble then they are worth. I have a hard time motivating myself to put them on her because I feel so aggravated fighting with her to keep them in. She regularly sees an audiologist to check up on how things are doing.
In July of 2003 Meghanne was once again having violent seizures. We had decided not to chance anything and brought Meghanne into the hospital ourselves. Lucky for us they took her in right away (typically we would have to wait our turn). It took them several shots of meds. to finally get the seizures to stop, she had been seizing for almost an hour total. Once they stopped she was able to rest. She had an IV in each arm, one for fluids and one for meds. She was in the emergency for a couple hours and then was sent to the pediatrics unit again.
Meghanne was very irritable the first night she was there. It took the nurses several hours to get her to calm down and go to sleep. When she saw us come in the next morning she was very happy to see us but she was still not quite herself. I came every day to be with her to help out the nurses as much a possible, my Dad and Mom came in a few times to see her as well as Margo her in-home care worker. Everyone could tell that she was just in a miserable mood. Each day she was in a better mood but would still have her moments of being fussy and nothing seemed to calm her down. I stayed all day until she went to sleep at night. I hated leaving her. Alyssa could not visit because of the SARS issue that was going on.
We found out the combination of medication that Meghanne was on was upsetting her stomach. They were colliding with one another so they decided to wean her off the Valproic Acid and put her on the Dilantin. Meghanne was in the hospital for 5 days and then we got to take her home. By then she was in a much more tolerable mood.
In September of 2003 Meghanne was once again having seizures and was brought to the hospital by ambulance. She was having several different types of seizures and they were coming one after the other with no end in sight. I was by myself (I could not get a hold of John) and it was scary. I am just glad that since this was not my first trip to the hospital I was not so frazzled and was able to remain calm. We were there at the hospital until late that night, it took a while for them to get a bed for Meghanne. She was not there for a long stay (just over night) and was released the next morning with once again new medications. She was completely taken off the Dilantin and was put on Lamictal and Clobazam. We were also given some other forms of medication incase of an emergency so we would not have to keep coming to the hospital. She was given Ativan (which never seemed to work) and Diastat, which we still use to this day once in a while to control her seizures. Over all they seem to be under control.
In October of 2003 Meghanne went in to have a special procedure where a scope is used to look down her throat to see why she has no voice and cannot seem to talk. Dr. Tietze performed the procedure (another ENT specialist) Dr. Abdallah did not seem concerned that there was anything wrong with her voice. We found out that Meghanne has partially webbed vocal chords and that her chords are smaller than they should be for her size. For the time being we have decided to see if the hearing aids will entice her to try and speak on her own (I have not seen any improvement). The next alternative will be to have her referred to a Paediatric ENT specialist in Toronto to have her reassessed to possibly have surgery to fix the problem. Her next follow-up is at the end of February with Dr. Tietze from there we will decide what will be done.
In January 2004 Meghanne had an appt. with a Paediatric Neurologist, Dr. Campbell. He has decided to have her come back to London to have and EEG done there at the end of March and have an MRI done in July. He would like to find out what part of the brain is being affected by the seizures and how her chromosome disorder may be affecting them or how it is affect by the seizures themselves. He is just hoping to try and find some answers. He also told us what type of seizure she may be having. He thinks she is having Partial Complex Seizures. Because I have described a few different types of seizures this seems to be the perfect combination off all that I described to him. I agree after doing my own research.
We are extremely proud of all her accomplishments as each one is such a challenge for her as you all know. Over the last year Meghanne has continued to improve physically and mentally. Here is a list of what she has accomplished so far:
- 13 mon. old: Hold her own bottle
- 13 mon. old: Shook head no in imitation;Sits alone for 2 minutes
- 17 mon. old: Claps in imitation -18 mon. old: Fed herself a french fry; Supporting more weight on forearms and learning to control balance
- 20 mon. old: Put herself into sitting position
- 23 mon. old: Makes goofy faces at the camera
- 24 mon. old: Pulls self up to furniture
- 24 mon. old: Started to creep on hands and knees
- 25 mon. old: Started to crawl; Starting to cruise along furniture
- 26 mon. old: Learned to say Hi in imitation
We are currently in the process of trying to get funding to put Meghanne in daycare for a few mornings a week to get her to socialize with other children. At the daycare we are looking at, they have a special worker that with will work with Meghanne one-on-one to help her progress. The only down fall is that the daycare is 20 minutes away and we just had a baby at the end of February (a boy named Evan) so it will be a bit of a challenge at first but I am willing to do anything if it will help Meghanne out.
We are also seeing improvement in her balance and are excited at the possibility of her walking sometime in the near future. She will stand by herself for short spurts and plays a lot with her balance when she leaning against something. Since we were told she may never walk this is a big excitement to us.