Our hopes for this blog is to create awareness, advocate, and hopefully find others with the rare duplication of 2q37.3 or other rare and unique chromosome disorders. As a mother of a special needs child (hardest words ever to say and type) I will fight to the end of the earth to educate others on disabilities and the uniqueness of these children as well as fight for my daughter to make sure she is just as abled as every other child regardless if God placed her in an able body or not.  

   Stella was born December 26 2012. She let out a scream that resonated through the whole ward... I knew then, in the pit of my stomach something was not right, but she was just so beautiful and perfect. Through the 3 days in the hospital she did well, scored normal on all APGAR tests and was the most beautiful thing we had ever laid eyes on. She was perfect... cried a LOT, and was only content sleeping on my chest ... but perfect. She was the completion to our family, we now had a son who was nearly 2 and a beautiful daughter, life couldn't get better.

Remember that scream I just mentioned when she was born.. well it went on.. and on.. and on for weeks. was it gas? was it colic? both? something else? we had no idea. What we did know what that she was vomiting a lot. I cut foods out of my diet since I was nursing, I started her on sensitive stomach formula.. nothing was helping, the painful cries, hours on end of screaming, the drooling (shirt soaking) and the stomach emptying vomiting continued. The vomiting was so bad that she had to sleep on my chest so I could feel her body  tighten and turn her so she wouldn't choke. I did more clearing and infant heimlich in her first weeks of life than I hope to ever do again.  She was now 8 weeks old, and loosing an ounce a day, naturally I took her to my pediatrician, and of course he sent us up to Miami Children's Hospital to run an x-ray and abdominal ultrasound to see if there was any blockage, or something undeveloped.. after hours waiting the tests were all clear... schew! bullet dodged! But what was causing the vomiting? We tried everything.. adding rice to weigh it down.. fail.. vomiting and choking. Soy... fail... rash. Organic formula, ... fail. finally a hypoallergenic premixed formula was all she could tolerate. The vomiting did not stop completely, but it was drastically cut down to where she could thrive. Still sleeping with one eye open we all survived. On March 25th (in the early morning hours) she had a cough that had developed into a deep chest raspy, gasping for air, cough.. off to the ER we went prepared for another 2 hour drive to Miami Children's (we live in the Florida Keys, Everything is out of the way) but Schew! Another bullet dodged it was just bronchitis.. but yet another setback in this tiny beings short life on earth. Now to keep her from coughing, choking, and aspirating.. success!
Stella remained a handful but was still my world.. I don't think anyone in our neighborhood slept for those first 8 months.
Throughout all this time we did tummy time... it was NOT HAPPENING! She would scream in pain! she would just lay on her back arms and legs stiff as a board and would be content, as if keeping everything tight was the only way to make whatever pain she was feeling subside. I kept trying, but I was not forcing the issue because she was doing well holding her head up. We of course went to all her "well visits" and got all vaccines, and everything was fine every time.. I was starting to think that I was just being over protective and over intuitive of my princess. Come her 9 month check up we all started asking more questions... she was not crawling, not pushing up, not sitting up, still hated tummy time, still cried all night, excessive drooling, but she seemed to have grown out of the vomiting, and her legs and arms were strong as long as she was on her back. The Doctor and I discussed this and decided that we would see how things were in a month. We joked and said she was just being a princess and lazy. I had a lot of work to do in that month... I worked with her trying to make a miracle happen and get her sitting, crawling, reaching etc. for that whole month.
Stellas 10 month appointment rolled around and nothing had changed. She laid on the exam table with the biggest grin but arms and legs stiff as a board. Thats when I heard the word "Hypotonia" or Low muscle tone. I had no Idea what this meant, but surely nothing a little work couldn't fix. Physical Therapy, Occupational Therapy, Speech Therapy were all suggested. Then he says "Neurologist" and "geneticist" my heart sank deeper than I ever thought was possible.. Could this really be happening? Could there be something in her "blueprint" that I cant control? Our Doctor ran a Chromosome Microarray blood test, results take 6 weeks.  I am a researcher, over-analyzer, Type A personality, and a Fixer, so of course I no sooner get to the parking lot and I am looking up everything I can find. Hypotonia is such a broad term that it was overwhelming. We called for the appointment for the Neuro-genetics and was put on a wait list for 3 months.. 3 MONTHS!?!? Luckily we were able to get in within 2 weeks (heavens rejoicing). The appointment came, and it was nothing spectacular, lots of meet and greet, explaining the last 10 months, blah blah.. The doctors ordered more labs, checking for DNA abnormalities, muscle enzymes, and anything that could give us an idea what was the cause for Stella's delay. They also ordered and MRI. Now we wait...2 weeks for MRI.. 6 weeks for lab results and 2 months for followup. MRI day came... Stella had a cold, so they couldn't sedate her without risking pneumonia.. wait another 2 weeks..Longest 2 weeks of my life filled with hours of research and books on Hypotonia, you name it I read it. I was getting sucked into the vortex of research filled with anxiety and sadness. We started Physical Therapy, Occupational Therapy, and Speech Therapy. 5 days a week were devoted to therapies.
It was now Christmas, time for joy, celebration, family, and Stella's 1st Birthday...but we had not spoken to anyone about Stella's struggles, aside from a few family members. Maybe we were in denial, hoping nobody would notice, or that it would just magically be all better. Regardless of the reason we stayed quiet, how can you explain something that is so vague, after-all we had no concrete answers? BUT it WAS Stella's first birthday coming up and we do birthdays big and there was NO WAY we were going to not celebrate. I did not want anybody talking behind our backs, or questioning what Stella was or was not doing. With the overwhelming fear of placing a "brand" on our daughter, I bit the bullet, swallowed my pride and with eyes welled with tears I sent out a text to everyone, explaining Stella's delay. I could Breathe!! No longer were were keeping this secret. The responses were overwhelming and nothing but supportive. We did not want sympathy, no pitty parties allowed, and everybody has respected our answers of "we don't know". Stella's first birthday was nothing shy of perfect and our house was filled with so many friends and family that love her more than life.

MRI day came again (New Years Eve). MRI went off without a hitch. Stella woke up happy with her award winning smile and Doctors said everything looked good but they would call with doctors findings. 3 days later doctor calls and everything was good in her brain. YAY! another bullet dodged. while I had the Neurology department on the phone I asked about her lab results. The assistant told me "no news is good news and they would call to schedule appointment if there were any concerns, but no concerns". Assuming my pediatrician and neuro-genetics all that the same results I was elated. Could this day get any better?!? Brain clear... blood clear... yes!! Must be in the muscles and muscles we can fix. I was on cloud nine and had a bright outlook on a once dim situation.

We are now just a few weeks out from Stella's Neuro-genetics follow up appointment. Our son gets an ear infection... off to the Pediatrician we go, his appointments are always fun (ugh). After his check up the doctor and I are chatting and he brings be the lab results... Knowing me (and my over analyzing) he assures me that its not as bad as it reads. My heart stops, what could it be? I was just told everything was good? Then I read the following:
     "The whole genome chromosome SNP micrarray has detected and interstitial duplication of the chromosomal segment  arr 2q37.3 (239,156,569-240, 056, 489) x3. This interval includes 5 OMIM genes (PER2, TRAF3IPI, ASB1, TWIST2, HDAC4). Haploinsufficiency of the HDAC4 gene (OMIM: 605314) has been postulated as the critical gene responsible for the main clinical features of "Brachydactyly-Mental Retardation Syndrome". This alteration has partially duplicated the gene which may or may not disrupt the normal gene function. Duplication may be associated with atypical symptoms or have no affect."
What does this mean??? Is this something that can exist and there be no affects? I still really have no idea.

    Naturally after an anxiety attack, I did what I always do.. consult the "google".  Brachydactyly has to do with the hands and feet being deformed, or shortened... Stella has the most beautifully long fingers and toes. Then it was off to research the duplication of the 2q37.3... talk about hard to find! I came across many Deletions of this chromosome but no duplications. Finally I was able to find some old case studies, but these kids had more duplications/deletions in other chromosomes. Those children exhibited some of the same struggles with feeding, swallowing, and mile stones not being met as Stella, but Stella only has the one duplication. Through reading the cases we found that kidneys, liver, heart, brain, and pretty much every organ can be affected by this duplication, great more uncertainty. I know every case is different and every child is different but we learned that there are only about 30 documented cases on Stella's duplication. No doctors that we have worked with has seen this or even knows what to do to treat her. Her Duplication is much like she is One in a Million (literally). Is there a possibility that there are other people in the world who have this crazy duplication, but have gone undetected?

Finally our follow up at the Neuro-genetics was here! Hoping to get some sort of answers or just a general idea. The appointment was an epic failure... the Doctors (who are supposed to be the best) had done NO RESEARCH and we knew more about the duplication than they did. believe it or not the geneticist said "wow this seems rare, let me go look it up" and left the room to come back with the same studies we had found from the internet. The doctors suggested that my husband and I have blood work done to see if this is a familial variant, and if we could possibly have a similar duplication. The Doctors also sent us on a marathon day of testing that began at 9am and went on till 6pm... We met with the cardiologist for and EKG, normal.. Ophthalmologist, dilated her eyes.. Perfect vision. Gastroenterologist, changed her formula to amino acid supplement (ele-care junior). Refrred us to a nutritionalist, Feeding Psychologist, ordered an abdominal xray to follow food digestion, Feeding and swallowing Evaluation, and video Fluoroscopy.
Most of the tests were performed in the following month, and all came back normal. So far the xray to follow her digestion has been the worst, we had to force feed her a bottle of barium YUK! We are still missing the Feeding and Swallow study, which is scheduled to be performed on May 6 2014, and we are anxious for this study. My husband and I are also waiting for our lab results.

WHAT ARE WE CURRENTLY DOING and WHERE IS STELLA DEVELOPMENTALLY?
Stella is such a happy beautiful kid and she has such a strong soul, she is our little warrior. Stella is 15 months old and is not caught up on her milestones but we are working hard to get her there. She has a great team of therapists who we work with regularly.  We see a Speech and feeding therapist 2xs a week for 30min. Occupational Therapist once a week for and hour, and Physical Therapy 2xs a week for an hour at a time. I just started her in school for one day a week from 9-3 in an infant classroom at the same Montessori school that our 3 year old son attends 3 times a week. We are hoping that it will be a "monkey see, Monkey do" situation for her since her brother literally runs circles around her. fingers crossed!

Feeding:(8-12 month skill) About 90% of her daily calories are still taken through a bottle with the special formula supplement "elecare" which tastes so terrible I have to mix it with almond milk. She does not hold her bottle and I am trying to get her onto a sippy cup but her sucking is poor. She is only able to eat baby food consistency "rough purees". Her chewing is poor due to her low muscle tone. Feeding of a 4.5 ounce pouch takes about 45 min, very time consuming and frustrating. We have found that higher flavor foods and larger bites trigger her oral motor skills better but her gag reflux is strong. She is unable to "self feed" since her fine motor skills are so poor and she is  clumsy. But she is getting better at getting a few cheerios in her mouth, this will progress as her pincer grab improves. Her drooling is still heavy but we have some days that are better than others. Drooling as with any toddler is worse when they are teething, and she has 8 teeth now. Speaking of teeth, she GRINDS ugh! her sweet little teeth are getting worn down but her smile is still so darn sweet.

Sitting: (7 month skill). Stella Finally was able to sit at 13 months... but was not getting herself into the sit, we would place her there. Her reflexes at this point were slow so falling over was always an issue. She is finally transitioning herself from laying on her back/stomach to sitting, this skill was achieved at 14 months, she is doing great at this now! When stella is in the sitting position she slumps over, head down, shoulders rounded over, pelvis curled under, legs extended straight in front of her. Her shoulders and neck are weak so to help with this we do a few different exercises. We have her push up from her tummy and reach for objects but she is very good at fighting this .. its work, who wants to work? But we also tape her shoulders with Kinesio tape (the kind athletes use) from spine outwards on both sides looking like little butterfly wings. Her pelvis is curled under and legs out due to SUPER TIGHT hamstrings, so we have to stretch these everyday, sometimes a few times a day, she hates it! We have also found that sitting her in a booster seat on the floor at its highest position (6in off the ground) works great for getting her legs into better angle where her pelvis is no longer curled under and her back is much straighter. When all these are aligned she reaches and grabs so much easier, and is also pulling to stand.

Crawling & Walking: (8-12 month skill).  Neither of these skills have been achieved although she does what we call the "bulldozer". She will be on all 4s but her head will be down on the ground as she tries to move forward, this does not last for but a few steps. She does get around a little, we have an area rug that I surround with toys and sit her in the middle, she will lay down and sit up methodically to get to where she wants to play... but only if she does not think i'm watching. Of course we want and strive for her to move and cruise but sometimes its nice not having to worry about her "getting into things". We do have a walker that we put her in from time to time but she does not go anywhere in it but rather just prefers to be on a different visual level, I call these "changes in Latitudes" ... She also loves her bouncer and saucer but we try not to put her in these too often as they do not aid in strengthening the appropriate muscles and allows her to slump and be lazy. She gets boisterous when she is in the same place for too long, as any of us would but we are in able bodies so we can just move on. Im sure she is super frustrated with not being able to explore so there is a lot of moving her around from place to place physically helping her to explore. She is not walking but she is doing much better at placing one foot in front of the other taking steps when we hold onto both her hands. We do have push toys but her coordination is slow so her carts go right out from under her before she can get her steps caught up. Her balance is still poor but first things first. I have found a few things that motivate her to move a little faster,and transition quicker. she is motivated by her brothers beautiful blonde hair (this is not fun for him) and animals.. we have a large dog and bunny that she just lights up when either come into the room.

Talking: (babbling 7 month skill) Talking is still not on our "skills learned" list but any progress is progress in our book. She does make babble sounds "da-da, ba-ba, g, k and s sounds. Her sounds really come with no correlation with things she wants or things around her. Sometimes she will mimmic but not often. If you watch her face when you talk to her you can see her tongue move as if she wants to say something, but nothing comes out. Maybe she is just waiting until she has something important to say? We are not stressing over her speech since she is the second child, and it is typical for speech to come later when someone else does all the talking for you. She does embrace language and music.. she LOVES Buddy Holly radio on Pandora and dances and squeals when it comes on, and she will watch faces intently when someones talks of sings to her.

Fine Motor & Gross Motor: (grasping mastered by 11months) Her fine motor skills are getting much better, she is doing more pinching and grabbing than batting at things. She still palms objects but everyday we see improvement. She is getting better at bringing objects to her mouth ... mainly my cell phone. She pinches and grabs at rocks and grass and pokes at little things.. She started playing peek-a-boo by simply pulling a blanket up and down at 13 months. Stella will clap when you say "clap" or "hooray" ... she will smile when you say "cheese", she will raise her arms high when you ask "how big is stella?" She loves songs and will poke her fingers and thumbs together for "itsy bitsy spider" she will pat for "pattycake" and do twinkle fingers for "twinkle twinkle" and of course she claps for herself after each song. Cognitively she understands the concepts of waving, clapping, mimicking and you can see it in her face it is just as though there is a blockage somewhere between her brain and her muscles.

OK SCHEWWW! I'm finally caught up on the last 16 months of Stella's life, struggles, and accomplishments (I'm sure I have missed things somewhere). I will continue to post whenever I can on her progress, accomplishments, inspirational quotes, test results and overall growth.