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Special Needs Spotlight: Jeremy

Hi, my name is Jeremy and I have an extremely rare genetic syndrome called Marshall-Smith Syndrome.  It is so rare that there have been less than 50 cases worldwide in the last forty years.  We did not know that I had this syndrome until I was three weeks old because the results from my multiple genetic screenings came back completely normal.  In fact, doctors are still not 100% positive which chromosome is slightly mutated to cause this syndrome.  I was born May 13, 2011 at 34 weeks and weighed 3 lbs 12 oz.  It took the doctors thirty minutes to get me breathing due to a floppy epiglottis and a narrow airway (laryngomalacia), and because of that I have a tracheostomy.  I also require extra oxygen.  My cerebellum is underdeveloped (congenital cerebellar hypoplasia), and I have micrographia (decreased brain matter).  I have narrowing of the ventricles and so had hydrocephalus while in the womb, but have not had to have a shunt.  I am also moderate-severely deaf.  My hearing fluctuates somewhat depending on the pressure the excess fluid exerts on my brain.  I am also somewhat hypotonic, and at eight months old I still cannot even hold my head up at all.  I do not smile or reach for toys, and due to the trach, when I cry I do not make a sound.  I receive all my nourishment through a g-tube although I love to suck on my fingers.
As of December 26th, 2011, I am now on ventilator support.  I had been having problems breathing and was having severe episodes where I would turn blue when I got upset and when I would fall into a deep sleep.  We found out that I have tracheobronchomalacia, which means anytime I cough or get agitated, my upper and lower airway collapses.  I will probably be on ventilator support my whole life, but we are hopeful that this is only temporary.  While I was in the hospital this last time, something bad happened to my left eye and I have developed a corneal ulcer.  My parents are doing all they can to save my sight (and my eye), but even with corneal transplants the best I will have is bent or double vision in that eye.
I have an older sister who is three and she adores me.  She watches out for me and is very protective.  She loves to help.  You can learn more about my story on our family blog: http://everachilds.blogspot.com.  So far, I have beaten the odds just by being alive right now.  I am a fighter, and although most of the children who have my syndrome die before the age of three due to respiratory complications, I have proven time and time again that I have strong desire to live and will not leave before my mission is over.
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Miggy:  Can you take me back to the day you knew Jeremy was confirmed as having special needs?  Do you remember how you felt?  Can you compare those first thoughts and feelings with how you feel now? 
Bambi:  We had two separate incidents.  The first was when I was 28 weeks pregnant.  During the routine 20 week ultrasound, Jeremy appeared normal, and growing well.  We hadn’t been able to see if Jeremy had a cleft lip, so I had a follow-up ultrasound at 24 weeks, which was also normal.  At 28 weeks, I was measuring smaller than I should have been, so my doctor had another ultrasound done.  We discovered excess fluid on the brain, and over the next several weeks we had several more ultrasounds done and an amniocentesis to rule out any chromosome defects and viral causes.  The genetic testing came back normal, and there was no evidence of bacteria or viral issues.  The fluid also remained stable (not increasing), so the specialists started to become more optimistic, going from ‘IF he survives birth,’ to ‘possible mild developmental delays, but he could be more or less normal.’   
We were devastated when we found out about the hydrocephalus.  I remember looking it up online and seeing children with hugely out of proportion heads and feeling my dreams come crashing down.  We tried to stay optimistic, which became easier as the fluid remained stable and the tests came back normal.
The second was after he was born, even before he received the diagnosis.  Making the decision to have the tracheostomy done was very difficult, because in a way it felt like we were giving up and taking the easy way out.  We had (and still have to some extent) hope that if he just grew a little bit stronger, gained a little more weight, then he would outgrow the airway issues.  Putting Jeremy back on the ventilator was also really difficult (he had been on the vent while in the NICU).  He fought it for a couple of weeks, but now he is much more relaxed and doesn’t have to work to breathe.  In some ways I wish we had done it sooner to save him the agony he had to go through struggling so hard just to breathe. 
Looking back over the last eight months, our little guy has been through so much.  In the early days we mourned the loss of the child we had “dreamed” of having.  There were days where we were heartbroken and not sure how we would handle the days to come–especially during his “blue” episodes.  Knowing about his airway collapse has brought a lot of peace and understanding to our family.  He could have died literally almost a hundred times a day and he still managed to pull through.  Nothing but divine intervention and his will to live could be the reason he is still with us.  We are learning to cherish each day and each moment as it comes. 
Miggy:  Tell us a little about Marshall-Smith Syndrome and how it affects Jeremy and your day-to-day life.  
Bambi:  Marshall-Smith Syndrome (MSS) is an extremely rare genetic syndrome.  It is in fact so rare that Jeremy is participating in research for the syndrome.  As with most syndromes, there is a wide spectrum, and Jeremy falls on the severe end of the spectrum.  Respiratory issues due to narrow airways is the biggest challenge with MSS, but not all those who have it are trached.  Moderate to severe developmental delays; some never walk or talk, but all have a happy disposition.  We have seen that with Jeremy.  He is an extremely content baby.  He only gets upset if he is dirty or hurting, otherwise he is looking around, sucking on his fingers, or blowing bubbles (or all three).   Jeremy has many issues unrelated to MSS, such as hearing loss and hydrocephalus. 
As for how it effects my day-to-day life.  We have four machines that alarm if something is wrong.  We are on a strict schedule for feedings and medications.  Jeremy requires twenty-four hour care, and we are blessed to have nurses to come in from 11 pm to 7 am so that we can get some sleep.  Because Jeremy requires line of sight care, we have him in our living room instead of a bedroom.  Because he is connected to so much equipment, moving Jeremy around the house is very difficult, and we are learning new ways to accomplish it, but other than baths, he mainly stays in the living room.  I am virtually home bound–the only time I leave the house with Jeremy is for one of his many appointments.  When I do leave, I have to have eight different bags/equipment with me including Jeremy and the normal baby stuff.  My husband is very concerned with me getting “me time” and makes sure that I get out of the house at least once a week to spend time with friends and family.  It is a time that I am able to recharge and it gives me strength for the week ahead.
Miggy:  What are the biggest worries you face for Jeremy?    
  
Bambi:  Oddly enough, our biggest worry is whether he is comfortable or not.  Since having the ventilator, we can’t hear when he coughs or needs suctioning, so I have been a little more vigilant on using the stethoscope (and the hand to the chest test) to listen to his lungs.  We don’t know how much he processes, and although we would like for him to be able to sit, stand, and hopefully one day, walk, we are taking each one step at a time.  We would love to have him smile, and eat through his mouth.  We would love to have him reach for toys.  We want to show him the world.  We take each day we have with him as a gift and we want to give him back as much as we can. 
  
Miggy:  Now for a lighter question, have you ever had any funny conversations/moments you never imagined due to your special needs situations?   
Bambi:  There have been many funny moments over the course of the last eight months.  One thing I have learned is that if you don’t learn to find the humor in a situation, then it can really bring you down.   An incident that comes to mind happened just last week, and involved a nurse who hadn’t been with Jeremy very often.  She woke me up and said that Jeremy wasn’t tolerating his feeding, that he seemed uncomfortable and was spitting up as well as making big frothy bubbles.  Groggy, I asked her if she had vented him (how you burb via g-tube).  She said yes, and since it was close to the end of her shift, I told her to go ahead and stop his feeding (so I could get my last ten minutes of sleep).  When I came out to relieve her, I noticed that Jeremy was content, wiggling his arms and legs and blowing bubbles.  The nurse was so worried because he was still doing it.  I laughed and told her that is what he does when he is happy! 
Sometimes it is simply the difference of looking at the situation differently.  I remember when we first found out about the severity of Jeremy’s situation after he was born and I was heartbroken and crying.  My husband said–half in jest, whole in earnest, “just think, we have one guaranteed celestial member of the family, now we just have to catch up!”  It worked; I smiled, and it brought a new perspective.
Miggy:  How can people best approach or respond to Jeremy? Is there something you wish other people knew so as to avoid awkward or hurtful situations?  
I know this sounds redundant, but honestly, the best thing people can do is talk to me about Jeremy.  I know not everyone has the time, so a simple smile will do.  We create quite a stir when we go out because his equipment is not quiet or discreet in the least.  I used to be one of those people who would–in an attempt not to be rude and stare–look past those with special needs.  Knowing what I know now, I would have offered a smile or started a conversation.  An acknowledgment that we are there without making us feel like we are a freakshow (trust me, we feel self-conscious enough without the stares).  I am also eternally grateful for those who take the time to help out–open a door, move something out of my path, or even loading things into the car.
Miggy:  What is the biggest lesson you’ve learned since becoming a special needs mom?  
Bambi:  That is a good question.  I have learned a thousand little things, that when added up, can only be called love.  We have received love and support from so many people in our lives.  Jeremy has brought our little family together in a way I never thought possible.  I have seen the nurturer side of my daughter grow as she takes care of her brother (in her small way).  I have seen my husband hold Jeremy so tenderly, and pour his heart out to this little guy.  My husband and I have learned to work as a team, and he is as involved in Jeremy’s care as I am.  We do things now without thinking that a year ago we never thought possible.  We cannot express the love and the sweet spirit that emanates from Jeremy.  He touches those around him even without communicating.  We have learned how to parent in the here and now, throw out the parenting books, and take each day at a time–the good and the bad….and we are still learning.
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I want to thank Bambi for sharing her precious Jeremy with us today.  I really wish I could hold that sweet baby for just 5 minutes.  I hope you won’t think me prideful when I say this, but doing these spotlights sometimes feels like a holy work to me.  These beautiful children amaze me.  I feel privileged for the opportunity to ‘meet’ them and share them with the rest of you.  Thanks for reading.  
Have a great weekend.    
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Hey, I'm Amy!

I'm an author, artist, and disability advocate. I live with my handsome husband and three beautiful daughters in Cincinnati, Ohio.

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