Perseverance is key with a motherly instinct
From the start of my pregnancy, everything was absolutely perfect. My father was healthy and thriving after a long stent with diabetes, my son was a happy 18 month old boy, and I had a wonderful job. This pregnancy came with very little weight gain, no morning sickness, and I felt the best I could have ever felt in my adult life. I was 24 years old and worked night shift in group homes that served children and adults with disabilities. I had worked with this wonderful population of people since 1996 and everday felt more and more blessed to be a member of their world. In December 2004, we heard Marissas heart beat for the first time, just my father and I went to this appointment as he always knew in his heart she was going to be his special granddaughter sent straight from heaven with red hair and blue eyes, as he would tease me as he knew I hated his wirey red hair. He was ecstatic to hear her heartbeat. I don’t think you could have brought him down to earth for anything that day. His life as a granddad would finally be complete as he would have one grandson (who idolized him) and one granddaughter (who in turn would idolize him as well). Unfortunatley tragedy struck on January 13th and he left this world and a very pregnant me without warning at the young age of 45. My life was devastated as was the world of my little boy. I had never lost anyone so close to me before. The night before he left, he told me again about her having red hair and blue eyes and how he felt the name Marissa would suit this beautiful child that would be heaven sent. I just smiled at the thought of it, now I know she was specially picked by dad as he went to heaven to send her to me.
In April 2005, I started having contractions at work and went to the hospital on Thursday April 28th, after I left work that morning for presurgical labs for a scheduled c-section the next morning. Everything sounded great and her heart beats were off the charts. Everything appeared perfect. The next morning, at 8:12am she was born weighing 8lbs 12oz and 22 inches long. She came into the world very quietly, unlike the last one I had who came out screaming. It was weird to say the least. They rushed her off for all the cleanup and I would see her shortly after surgery. I was stapled back up and took to my room and awaited my new bundle of joy. The only issue after birth we had with her is that her blood sugar kept bottoming out and we could not keep her awake to eat. She had to be stimulated to be woken and that was even after they ruled out any kind of diabetes. They said apparently I was throwing to much glucose and things should straighten out in a few hours. We went home the next day and resumed daily life as we knew it.
Marissa was a different kind of baby, she wanted to sleep a lot and always slept all night so I took her to work with me for the first few weeks of her life. She ate small amounts and would act as if taking a bottle would just endlessly tire her out. She would fall asleep after a few ounces and then violently puke it back up. Her pediatrician was horrid and blamed me for just not being a good enough mother and put a dx of failure to thrive on Marissa and changed her formula to alimentum as she was not gaining weight the baby should. At 3 months she had nearly gained 2 pounds. I was threatened with a call to dhs for not feeding this child by the crazed physician as I knew something just wasn’t adding up. She never cried, she wouldn’t eat hardly, when she did she threw up, and now I have some crazy dr. telling me I need to do this and that (when I was already doing it). I drove to Childrens of Knoxville to a gi and he thought she may have pyloric stenosis and placed her in the hospital for failure to thrive and testing for cystic fibrosis due to her still being so small and having a poor suck. All of that was ruled out and she was dx with gerd at 6months during her stay there, placed on zantac, and referred to another pediatrician. 6 months came with no babbling or cooing like a normal baby and in a small town there was no outside help with Knoxville being over an hour drive away, travel to childrens was limited. 8-12 months she could finally hold some formula down, but was still underweight at a little over 16 pounds. She looked like a small baby bird but she would smile and laugh now and was happy all the time. At 12 months, she finally started sitting up on her own with help, but not for long. She had no ability to crawl or hold a cup, she would only touch things with clenched fist, and tried to pick everything up with her feet. She did not want anyone touching her hands or her lips and would cry if you did. We put her in a daycare at the Henry center where I worked that rehabbed intellectually and developmentally challenged children and they started pt, ot and feeding therapy with her.
At the Henry center, she loved the other children and would watch them play and just smile. She did not like therapy to say the least and would cry and scream. Feeding therapy came with its own challenges as she hated the way a spoon felt and was very turned off by any kind of texture that was not a yogurt (smooth) consistency. She would gag and puke. Her pediatrician thought she was deaf and dx her with pervasive developmental disorder at 16 months and told us not to expect a lot as she was way below her gestational age of functioning. At approx 18 months months old she had the sitting up thing down and started pulling up a small amount, however, to get where she wanted to go she started scooting on her but like a frog. It was quite a sight to see. She tore the butts out of her pants as she would go ninety to nothing and started to babble a small amount. This is when the fit throwing from not getting what she wanted to eat was at an all time high, holding her breath from frustration, and me at my wits end with not having a clue. I had learned a lot of patience up to this point. I even remember getting down on my hands and knees and begging god to give me more patience to deal with this beautiful baby he had given me 7 asking him to give her the patience to teach me about her. She had massive trouble with constipation and still cries today with it hurting her. She was frustrated and picky & I was tired of playing the guessing game and worrying that one of these holding her breath fits would end in her demise (as her lips would turn blue and she would go lifeless.) We ran her back to the pediatrician for this and she said, Shes autistic. Wow? Really…… This dx stayed with us for the next 2 years.
I moved to Nashville and opened a daycare and just stayed home with her and teach her myself. I knew I had to do something to learn her language so that I could understand her and break through this language barrier that was between us. I started offering choices, doing pt and ot with her (as I had trained staff for 3 years on various clientele of differing gestational ages and syndromes) and watched my little rosebud come to life. Being around other “typical peers” her age taught her to dance, at 2 years she finally started walking (but still steps high when the floor textre changes as if it looks like a step to her), playing with other kids, climbing stairs at 2 ½, sitting down for story time with friends, and opening up to hugging people and saying words. She loved bath time, hated being washed and teeth brushing. At 3, She started feeding herself but would have a major meltdown if food got on her hands. At 3/12 she did not have a big vocabulary but a few words. I remember begging god to just let her learn the words “I love you mama”. I remember telling everyone I don’t care if she says anything else, but that. I know it sounds selfish but I dreamed of the day it would come.
Between the ages of 3-4 she developed a major fear of loud children, vaccum cleaners, any loud vehicles, barking dogs, and swimming pools. We took her to Panama City Beach and the sand was too much of a stimulation for her, she hated the ocean, and she screamed and cried if she thought we were going anywhere near it. It was a vacation from haitis! My husband thought she would like the pool at the resort, wrong answer. She was just as happy indoors or playing on the quiet patio back at the house we rented, as opposed to being anywhere else. Other than sensory issues we were happy and thriving. She was lost in the transition for kids with special needs when we moved down here to Nashville but now we were closer to Vanderbilt and she had me.
In October 2009, things with the autism still was not adding up. She had learned to be way to endearing and extroverted, she was talking in few word clusters, and she loved and laughed all the time. She is the biggest ham you will ever meet. I met with our doctor here who would start the lengthy process of getting her in to see a developmental pediatrician. She was still having sensory issues, still sleeping approx 12 hours a night, still having issues with certain foods, afraid of loud noises, had trouble with transitioning, and refusing to even try and sit on the potty. We finally got into see a developmental pediatrician on February 19th, 2010. That was the worst day of our little life. We got to the hospital and her and my mother in law got on a courtesy shuttle, with myself and putted off toward the elevators. Marissa does not like anything like parking garages, drs office, etc. The courtesy shuttle driver gassed on the cart up an incline, with marissa in my mother in laws lap (as she is her nannys girl) and threw them off the cart. They were gone in the blink of an eye. Nothing to hold on to, not even a chance to grab them. She had not even realized that I was screaming that she threw them off. 8 hours later, an er visit, a broken leg in 3 places with a cast all the way up to her hip, and blood shot swollen eyes from me; we were on our way home. The drivers carelessness had injured a child who was already afraid of everything and had fought her way through life twice as hard as a typical child, and now with never as much as a bruise on her; she had a broken leg.
We saw the developmental pediatrician the following week as they made sure we got right back in to see her, with the help of a lawyer of course. She done a full genetic workup on Marissa and a developmental screening by Dr. midduri that warrented OT. PT, and Speech. Oh the joys of another waiting list. Dr. M stated that she had a gestational age of somewhere between 2/12 to 3 years, PDD, with speech and articulation delays, and wanted to draw genetic panels to rule out fragile x. The genetic testing Marissa had at UT was not thorough enough to produce anything but a dx of autism, which Madduri says happens all to often when Dr’s just don’t know. She said there was no way Marissa had autism, just some autistic traits.
March 1st, dr. Midduri called us at home and she said let me take a look at this one more time to make sure. She called me back and explained to me Marissa has a rare syndrome called PTLS where her 17th set of chromosomes has an extra leg on it causing the delays and issues that we have been dealing with all along. It was a breath of fresh air finally knowing what we were dealing with. Dr. Midduri referred me to Patti Furman for questioning at Texas Childrens Hospital and she told me of the wonderful parents and yahoo groups on facebook. Where medical literature is still lacking, parents of ptls is so forthcoming with information. Dr. midduri actually had trained under Potocki and Lupski so she had a small insight to this disorder, but no information.
Since then Marissas broken leg has healed, her love of swimming has returned, her speech has gotten so much better, she figured out she really could walk again (She yelled at me she cant, and I said you will LOL), she started potty training (x 6 weeks now and 1 week in underwear with no accidents yay) and she is healthy and thriving. She turned 5 at the end of April, we have registered her for kindergarten in the fall, and she now has an IEP in place for that. This school year will bring on many new challenges I am sure, but we are ready for the next step. I still continue to hold my breath the closer it gets, but I think she will do far better with it than I ever will. I guess you have to let them go to school sometime.
If you want to contact us please do so at 615-967-5010 or email me at jnspennington@yahoo.com and I will share the small amount of knowledge that I have on such a rare disorder. Only god knows why I was picked to be Marissas’ mother and every day I thank him for her beautiful smile & wonderful outlook on the small things in life.
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That’s right! Marissa is in kindergarten. IEP check, Backpack Check, Loves the bus Check, Likes the teacher of her kindergarten class Check, likes her special ed teacher…… Likes her special ed teacher? NO! She doesn’t! She says she doesn’t like her because she makes her do things for herself! How funny! Something so little, causes so much meltdowns at dropoff every morning. If Mrs. D is getting her she is no tears and all smiles. She loves her as much as she loves her friends! If Mrs. R is getting her at the Special Needs classroom, she cries, and she ask when shes going home all day long! I get a chuckle to myself a little bit only because I know in my heart and I have popped in that this lady is not mean to her, she is fostering her independence and Marissa is at 100% dislike. She will have to adapt to the world as the world will not wait to adapt to her.
Due to Marissa being extremely advanced in certain areas and lacking in others we ended up in Speech 2 days per week, dropping OT now that she has other children her age to model, Special education 3 hours a day and the rest of her time is spent with her typical peers! When I look at homework they send home that she is unable to do alone just yet, I don’t get aggravated. We adapt and do everything hand over hand, with her happily smiling at her successes!
She has a lot of friends on her little school bus and they are all cheering her on each morning and afternoon! I love it, Its like her own little fan club! Makes me smile! She is such a bright and shining star and her laughter is contagious. She is the happy queen in her own world and will readily welcome anyone into her world to play, but don’t mess with her things or she will “ell” (yell) at you as she says! She is still hilariously funny to get out of bed, loves her night time stories red about David or the Take a mouse to School serious, loves her brother, and is her mommas best friend. School has enabled both of us to take a break from each other and gives me some much needed me time.
In just a few weeks the first of her nine weeks is over at school. Our first field trip is coming up on October 22nd and this will be awesome! She starts cheerleading on Saturday as one of Cindys Cinderellas and I can not wait for that either! Life is good as a ptls mother! Not always Fabulous, but fun nonetheless!
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Learning to Adapt to the school Life!
Due to Marissa being extremely advanced in certain areas and lacking in others we ended up in Speech 2 days per week, dropping OT now that she has other children her age to model, Special education 3 hours a day and the rest of her time is spent with her typical peers! When I look at homework they send home that she is unable to do alone just yet, I don’t get aggravated. We adapt and do everything hand over hand, with her happily smiling at her successes!
She has a lot of friends on her little school bus and they are all cheering her on each morning and afternoon! I love it, Its like her own little fan club! Makes me smile! She is such a bright and shining star and her laughter is contagious. She is the happy queen in her own world and will readily welcome anyone into her world to play, but don’t mess with her things or she will “ell” (yell) at you as she says! She is still hilariously funny to get out of bed, loves her night time stories red about David or the Take a mouse to School serious, loves her brother, and is her mommas best friend. School has enabled both of us to take a break from each other and gives me some much needed me time.
In just a few weeks the first of her nine weeks is over at school. Our first field trip is coming up on October 22nd and this will be awesome! She starts cheerleading on Saturday as one of Cindys Cinderellas and I can not wait for that either! Life is good as a ptls mother! Not always Fabulous, but fun nonetheless!
