Morgan's Syndrome - Idic 15 Syndrome or Dup 15q Syndrome

I haven't really talked about the details of Morgan's diagnoses. I've gone a little into what we've had to contend with, the seizures, the VSD, vision issues and developmental delays. But I haven't really given the run-down of what it is.

First of all, the syndrome she has is rare. Estimated 1 in 30,000 people are born with it.

Morgan has Dup 15q Syndrome meaning she has a partial duplicate of chromosome 15.

There are two main types of chromosome 15 duplications. Interstitial and Isodicentric. Morgan has Isodicentric or Idic 15 Syndrome.

Confusing, I know. It has been easier to just say that she has Idic 15 Syndrome because that is what her medical diagnoses says and all her corresponding medical records, even though it is also referred as Dup 15q Syndrome.

So, brace yourself. Here is the scary truth of what Morgan has...

Isodicentric 15 Syndrome

All information was obtained from the Dup15q Alliance. For more information please visit http://www.dup15q.org/clinical-information/clinical-features/

Isodicentric chromosome 15, abbreviated idic(15), is diagnosed in individuals who have 47
chromosomes (or sometimes more) instead of the typical 46 chromosomes. The extra chromosome is made up of a portion of chromosome 15 that has been duplicated and "inverted," so that there are two copies of part of chromosome 15q attached to one another that appear to be mirror images.

Because of this arrangement, idic(15) used to be referred to as "inverted duplication chromosome 15." Most commonly, the region called 15q11-q13 is the portion of chromosome 15 duplicated.

Hypotonia (Poor Muscle Tone). Babies with Idic 15/dup15q usually have hypotonia. Motor milestones such as rolling over, sitting up, and walking are significantly delayed. Older children and adults with hypotonia often tire easily. 

Physical Features. Many children with dup15q share similar facial characteristics. These include a flat nasal bridge which gives them a "button" nose. There may be skin folds, called "epicanthi", at the inner corners of the eyes, and the eyes may be deep set. Ears may be low-set and/or posteriorly rotated.

Growth. Somatic growth is decreased in about 20–30% of individuals with dup15q, but head growth is typically in the normal range.

Gross Motor Delays. Gross motor delays are very common, probably partly in relationship to hypotonia. In one article, sitting was reportedly achieved between 10 and 20 months of age, and walking between 2 and 3 years. A current study of children with dup15q found that kids with isodicentric duplications achieved independent walking at an average of 25.5 months (range 13-54 months), with 3 children (out of 47) who were not ambulatory at the time of testing. The vast majority of people with dup15q are able to walk independently although some degree of ataxia (coordination problems) may be apparent.

Fine Motor Delays. Fine motor delays are widespread among children with Idic 15/dup15q syndrome. Nonfunctional use of objects with an immature type of exploration has been reported in the scientific literature.

Cognitive Delays. Most individuals with Idic 15/dup15q syndrome show some degree of cognitive delay and learning disabilities, including intellectual disability at the more involved end of the spectrum.

Speech/Language Delays. Most children with dup15q are affected by speech/language delays. Expressive language may be absent or may remain very poor, and is often echolalic with immediate and delayed echolalia and pronoun reversal. In her study of dup15q, Dr. Carolyn Schanen found 26 of 47 children had some language at the time of their participation in the research study, with the first word achieved at an average of 28.7 months (range 7-84 months) and phrase speech beginning by an average of 44.1m (range 9-114 months). While the majority of children with dup15q experience speech delays, a small subset of children are highly verbal.

Behavior Challenges. Many children with dup15q have difficulties of behavior and social communication, with a lack of response to social cues frequently observed. In older individuals, there is some suggestion of improving social awareness with age.

Vision Issues. Some children have cortical visual impairment. This seems to improve with age and therapy.

MEDICAL ISSUES IN IDIC 15 or 15Q DUPLICATION SYNDROME

SEIZURE DISORDERS. Seizures represent an important medical feature of dup15q syndrome. Over half of all people with idic(15) will have at least one seizure. The majority of those will experience their first seizure before age 5, but seizure onset may occur as late as young adulthood. There are many different types of seizures experienced by individuals with dup15q. Children can start with one seizure type and other seizure types may emerge as the child ages. The prevalence of infantile spasms among a surveyed group of families was unusually high and suggests that idic(15) could account for a significant percentage of infants experiencing those episodes. Infantile spasms associated with an hypsarrhythmic (disorganized) EEG have been reported in the scientific literature. Typical Lennox-Gastaut syndrome or Lennox-Gastaut-like syndrome was observed in the four patients with idic(15) reported by Battaglia et al. These had tonic/atonic (head drops or drop attacks), tonic-clonic seizures and atypical absences with onset between 4 and 8 years of age. Complex partial and myoclonic seizures have been observed in a number of other affected individuals.  Response to treatment is variable. For some children their first presenting seizures are easily controlled with medication. However, there  are many reports in the scientific literature and from parents of seizures that are difficult to control, despite adequate antiepileptic treatment. Difficult to control seizures associated with some degree of deterioration have also been reported.

AUTISM SPECTRUM DISORDERS. Multiple research reports document the risk of autism spectrum disorders in individuals with dup15q, although not all children with duplications develop autism. Two studies that included a total of 226 patients with autism found dup15q in approximately 3-5% of the patients. Chromosome 15q11-13 duplications are the most frequently identified chromosome problem in individuals with autism.

SENSORY PROCESSING DISORDERS. Parent report suggests that sensory processing disorders are widespread in dup15q syndrome. These sensory processing disorders disrupt the affected child’s ability to achieve and maintain an optimal range of arousal and to adapt to challenges in daily life. These disorders are often manifested by an over-responsiveness or under-responsiveness to sensory input (sound, touch, taste, etc) or fluctuations in response to sensory input.

ATTENTION DEFICIT DISORDERS. Attention deficit disorder/hyperactivity has been reported in a number of cases of children with dup15q syndrome.

ANXIETY DISORDERS. Parent report of anxiety disorders in children with dup15q syndrome has been noted among Dup15q Alliance families. More research in this area is needed.

INCREASED RISK FOR SUDDEN DEATH. There is an increased risk of sudden, unexpected and currently unexplained death among children and young adults ages 7 and older with chromosome 15q11.2-13.1 duplication syndrome. The risk is small, estimated at 0.5-1% per person per year. Physicians should be alert for potentially relevant symptoms and follow up their patients according to their best clinical judgment. Benzodiazepines and barbiturates should only be used if alternatives are not available, given a possible association with sudden death in this chromosomal disorder. For more information, see the Physician Advisory Sudden Death in Chromosome 15q Duplication Syndrome at www.dup15q.org.

OTHER MEDICAL PROBLEMS. Other reported medical problems include recurrent respiratory infections in childhood, middle ear effusions requiring tubes, eczema, and other problems.

Overall, it's a lot of information and a lot for a parent to take in. I have to re-read all of this occasionally as I can never remember all of it.

She is a handful, our little Morgan. But despite her syndrome and all that it entails, she is the most amazing little girl. She has a strong spirit and the depths of her beauty and mystery are endless. I can only hope that we are strong enough to continuously take care of and provide for this extraordinary human being. 

No More Plans

I'm a planner. Everything in my mind is mapped out. I think everything through, sometimes over-thinking and exhausting myself in the process. I like having an idea of what I'm up against. I analyze, turning the problem this way and that, until I feel I've looked at all the angles. Then I decide what to do. I've always looked forward into the future and made plans of how things will probably end up. Things rarely go exactly as planned but never too far off from my original idea. Sometimes I've had to readjust my plan. But over the last couple years, I've been blindsided more than once.

I've always anticipated and prepared. I've always had a plan.

Not anymore.

Aside from some very basic things like planning where I can for Kyle and Morgan, I'm done with plans. For my own well-being I need to let go. I need to follow where life leads me. Take one small step at a time and just go with it.

I'm not saying I'm giving up or that I won't have goals, I'm just saying that I will be limiting my expectations for the future so I can better concentrate on today. 

Morgan is now 76 days seizure free. But who's counting. We have her evaluations with Early Intervention coming up and it will be interesting to see what they say. 

Is She Expected To Talk?

Morgan has been fighting a cold for the last week. This means it has been a exhausting routine of clearing out her nose, taking her to the pediatrician to be examined, having the nurses suction her out and restless nights. We even spent some time at the Respiratory Clinic in Alta Hospital. Luckily, her cold has not evolved into something else. No ear infection or any other secondary problems. Just a really bad cold. But she sounded absolutely terrible on her 7th day of the cold. She had no fever and no other symptoms but she sounded like there was a motor lodged in her throat. Not wanting to take any chances with her delicate health, I made yet another appointment with our pediatrician's office.

Our pediatrician's office consists of several doctors but, at my insistence,  we deal solely with Dr. Conover. She began following Morgan's case since before Morgan was released from the hospital at 2 months old and has been involved in every aspect of her care from that point forward. She knows Morgan's complicated medical history and during Morgan's rather intense treatment of infantile spasms, saw us twice a week for a time. We feel completely comfortable with her and our appointments are seamless interactions where only the most current issue and bits of information are shared.

So when I called, I was a little dismayed to find that she was completely overrun with patients and there simply was no way to squeeze Morgan in. I was okay with it. Morgan needed to be seen whether by her regular doctor or someone else, at least I could get her checked out. We were scheduled to be there in a couple hours.

I knew what a different doctor meant. It meant explaining. It meant going over Morgan's complex medical history. It meant questions. I did a mental sigh as I got the kids ready to go. I knew what to expect.

We got there and went in through the back door (this should tell you how well they know us) and was shown into an examination room. Once the nurse was done taking all of Morgan's vitals, the doctor came in. He asked me all kinds of question while reading her chart and, like all doctors who first encounter Morgan, he examined her with curiosity and interest.

Then he asked me, "is she expected to talk?"

Some questions are easier to answer than others. Yes, she is delayed. Yes, seizures are a part of her syndrome. No, despite some struggles, she eats quite well. But "Is she expected to talk?" Meaning, will she ever speak? Is a hard question to answer.

Mainly because I don't know. I don't know if she will or if she won't. No one knows. It's entirely up to Morgan. So I answered the doctor the best I could. "She may. I guess kids with her syndrome range from non-verbal to kids who speak quite well." That was about all I could manage.

I'm not used to answering so many difficult questions. Questions about what my daughter may or may not be able to do. And I'm not used to the many questions from doctors and people who encounter her. I know there is a chance that Morgan could be non-verbal. But I also know there is a chance that she will speak and be able to express herself. I know that speech therapy will be in her near future. From that point on, who knows. 

The Cardiologist - Morgan's VSD

Back in November, Morgan had a Echocardiogram on her heart. This was done to check on her Ventricular Septal Defect (VSD) a hole in the wall separating the two lower chambers of the heart. The Echo was also to ensure that her Pulmonary Hypertension did not return after we had weaned her off Sildenafil, the drug (as well as all the additional medical intervention) that saved her life. The results were good. No evidence of Pulmonary Hypertension and the VSD appeared to be much smaller than before.

So we had the follow-up appointment this week.

Both Kyle and Morgan had been sick this week which meant absolutely no sleep for me. Kyle caught another cold and inevitably, Morgan caught it a few days later. She was tired and miserable with a great deal of stuff coming out of her nose. I decided to swing by our Pediatrician before heading up the Hospital. It was day 3 of her cold and a good idea to make sure she wasn't developing any secondary problems and thankfully proved to be doing alright. Her nose needed to be suctioned out though. This is never a pleasant experience for either of us but gave her a chance to finally rest comfortably because she could breath easily. Good. That should buy me enough time to get through the appointment with the Cardiologist.

Kyle was with us. I figured it would be a relatively short visit since there was no mention of doing another Echo. So big brother was tagging along and doing everything in his power to distract me from the task at hand. This is something he is very good at. But I was glad to have him along and I'm sure Morgan was as well.

So they did an EKG and examination. The Cardiologist asked me to wait while she ran everything by the head of Cardiology to make sure they are in agreement that everything looks fine from the EKG. When she came back I was surprised to hear that the head Cardiologist wanted to perform an Echo on her immediately as it had been a while since her last one. So much for a short appointment. It was a good thing I brought the tablet so Kyle could play his games.

I was a little worried that maybe they didn't like what they saw and that is the reason they wanted to do the Echo. I silenced the worrisome thought. Something I'm getting better at doing. So we were led into a dark room where Morgan was laid on a hospital bed and a tech began the Echo. Kyle thought it was cool. He said, "Wow, what's that?" "That's Morgan's heart, they are looking at it to make sure that it's healthy." I replied. "Wow!" He said again.

After the Echo was completed, we were sent back to the examination room to wait. And wait. And wait. I fed and changed Morgan and tried to keep Kyle from climbing the walls. He was tired of playing his games by then. I checked the time, 4:45 PM. We had been there for two and a half hours. Then finally, the door opened and the head of Cardiology and Morgan's Cardiologist strolled in.
"We looked at her Echo and it appears that the VSD has closed." They then began to tell me the details and spoke about the next time they would want to see her. Not for another two years! "Your daughter's heart looks normal. Do you have any questions?" "None that I can think of." I replied. And with that, we packed up to leave.

Normal, my daughter's heart looks normal! NORMAL!

Thus far, this is not a word that has been used with Morgan much. No need for heart surgery. Her VSD closed on its own! Her heart looks NORMAL!

So, teary eyed and sleep deprived, with two little one's asleep in the back, I smiled all the way home.
 

Superman vs. The Black Widow (and I Don't Mean DC vs. Marvel)

Wednesday was beautiful. It was sunny and just warm enough to really enjoy opening the windows and back door. We are ready for warm weather, and no one more than Kyle. While I stayed with Morgan, Kyle took his Superman toy outside to play.

He was out playing for about a half hour when I heard "Mommy, a spider on Superman! Mommy, a spider!" I went out on the deck and asked him where. "On Superman's cape!" Kyle was stomping up the stairs holding his Superman toy. "Where was the spider Kyle?" I asked again. "On Superman's cape, but then it ran away." "What color was it?" I asked. "It was black," he replied. Okay. Kyle sometimes mistakes brown for black but I thought I should look into it further. "Show me where Superman was when you saw the spider?" So Kyle led me to our wood fence by the pine tree. There were two large bricks leaning against the fence and Kyle indicated that Superman had been laying beside those bricks.

I could see the outline of the Superman toy in the dirt. At the end of one of the bricks was a fine, chaotic looking web. Uh oh, was all I thought. Using the toe of my shoe, I delicately tipped the brick over to see what was behind. Sure enough, the ugliest, most disgusting of spiders, a black widow, lay behind. I tipped over the next brick. More! More ugly, nasty, disgusting, horrible, heebie-jeebie inducing bits of hell lay behind those bricks! And nests. God only knew what was in those things, but lots of nests.

I told Kyle to stay back. I asked him if he touched it, if it bit him. He kept saying no. Thank goodness! Ugh. With Kyle following me, I checked on Morgan and then fetched the bug spray from the garage. I know chemicals may not be the greatest to use around kids, but I do not care. When it comes to black widows, it is time to resort to chemical warfare.

I sprayed those horrible, nasty, hateful things and sent them back to hell where they belong. All the while Kyle was giggling at me. I made all kinds of disgusted noises like, "Ahhhh! eeeesh! blah! yuck! yuck! yuck!" When really I was using all kinds of swear words in my head that I really didn't want Kyle to hear.

I ended up spraying the bottom of the rest of the fence, the perimeter of the house and other places that held potential. I'm happy to report the ones behind the bricks are dead and the bricks in the garbage.

You can probably tell that I don't like spiders. I especially don't like black widows. And that incident came too close to Kyle for comfort. Damn spiders. I think it's safe to say that I will be more vigilant about monitoring what little creatures decide to take residence in our yard. And it's safe to say that through sheer luck, Superman and Kyle won. 

Being the Mom of a Typical Kid and One with Special Needs

Being Kyle's Mom is like day, and being Morgan's Mom is like night. The two are so different and the balance between caring for them both can be a difficult tight-rope to walk. Or so I'm learning. I'm only a year into this, with Morgan turning one, but I can already tell that fulfilling her needs as well as Kyle's is going to be an intense job. Morgan's care is challenging to manage, with the many facets that I have to keep track of. Her doctor's appointments and therapy. Her daily medications and monitoring. Kyle has his needs too. They are more typical and for the most part, not nearly as intense, but he still has needs.

I strive to give them both everything they need. Being able to give everything they both need in a Mom is one of my greatest hopes and challenges. I don't kid myself though, I know all too well that I will mess up. Hopefully I won't mess up very often.

Being a parent is challenging. It tests us like nothing else can. It stretches and pushes us, wearing us out to the point of exhaustion. But it's also the most rewarding experience I've ever had.

Being the parent of a child with special needs is also challenging. The same emotions and experiences are involved, but multiplied. Your heart breaks, soars, and breaks with equal regularity. Tears are always just under the surface, ready to spring up at the slightest provocation. Joy is always there too, just under the surface, coming up any time Morgan does something "typical." Not one thing is taken for granted. The smiles, laughs, sounds, movements, can make the whole world shine.

And feeling discouraged. That is a feeling I have to frequently stomp down. I remind myself that it's a miracle this beautiful girl is here. And I remember to be grateful and to be patient.

My Mom and I attended a Mother's Day Night Event last Friday, hosted by the Utah Parent Center. It was called Unexpected Journey by speaker and performer Michael Ballam. He discussed the ability to rejoice when life takes us to places of challenge and blessings we never dreamed possible. Michael shared his own experiences as a parent of a child with a disability through word and music. 

As we watched the people around us, I commented to my Mom that this was a hard club to belong to. A club where each parent is a member not by choice. By circumstances they cannot control. But as the evening wore on and I was able to hear Michael's son, Ben, perform Some Enchanted Evening, I could see the extraordinary beauty that each human being possesses regardless of medical problems, disability or any other issue they may be struggling with. I was touched.

Being a Mom is tough, whether you have a child with special needs or not. But by having Morgan in my life, I'm simply more aware of the precarious nature of our lives. How incredible and fragile each of us are.

P.S. Mom, thank you for coming with me the other night. I was happy to have you with me. Happy Mother's Day.

My Little Super Hero

I never thought that Kyle's sibling would have special needs. I imagined something different for him, and for ourselves. A road a little less bumpy perhaps. I try not to bemoan our circumstances. Things just happen sometimes whether by chance or fate and all I can do is my very best with what we have been dealt. We all have our good days and our bad days. But regardless, there is no doubt that our love for Morgan is strong and bright. No one illustrates this better than Kyle.

He knows that she is different. He knows that she gets sick easy. He knows she has medical problems. He knows she needs a lot of help. And, he's okay with it.

He accepts the situation better than any of us. That's just the way things are. That's just Morgan. I'm always taken by surprise by the way he handles everything. I will tell him that we have to take Morgan to the doctor and his reaction is energetic and supportive, answering with "Ok, let's do it! Let's go!" He knows the doctors help her and has said as much to me.

He is so wild and rambunctious that it is always surprising to see how gentle he is with his sister. He will tear through the house like a whirling dervish only to pause when he sees one of Morgan's socks coming off, gently pulls in back up for her, kisses her on her forehead and bounds away.

Morgan saw her Pulmonologist this week and Kyle wanted to come with us to the hospital. He likes to be there for all her doctor's appointments and was disappointed that he had to stay home. (Her lungs are sounding good. We got the news back on her chest x-rays and they look good. Her lungs are nice and open).  

He talks about what has happened with her and what is happening. He asks lots of questions. He refers to her two months in the hospital as "When Morgan was banished." Not sure where he got that one, but that's what he calls it. A friend or ours gave him an Incredible Hulk toy during that time, so he tells me "Yeah, I got this when Morgan was banished."

He has his moments where he will do everything he can for my attention while I'm taking care of her. He drives me nuts when he does this, because he won't stop until I've looked at him. Normal sibling stuff.

And of all the people in Morgan's life, Kyle can make her laugh the easiest, smile the most. Danny and I will do everything we can to coax a smile or a laugh out of her and all Kyle has to do is show up next to her.

He is my wild four-year-old who can test my patience again and again. He is so energetic, seemingly tireless and many, many times, he doesn't listen. But with Morgan, he is always gentle and he always surprises me with how conscientious he is with her.

He is Morgan's Super Hero.