Hello there! I’m Lacey. I have to start by saying this is a huge honor for me to be able to write a post on Miggy’s blog that reaches so many members that have had similar experiences as we have. I am married to my husband Solomon for 10 years and am honored to be the mother of 3 wonderful children, Jeffrey age 10, Jena age 9 and Jordan age 5. I will be introducing you to my daughter, Jena Nichole who was born with what her geneticists believe is Noonan Syndrome, though we are still in the diagnosis stage.
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Miggy: Hi Lacey! Thank you so much for being here today. Let’s start at the beginning, can you take me back to the day you knew something wasn’t quite right with your daughter Jena? Was this before birth, immediately after, or sometime after that? If applicable, how long did it take you to get a diagnosis and do you remember how you felt? Can you compare those first thoughts and feelings with how you feel now?
Lacey: The day we knew something wasn’t right was the same day our daughter, Jena was born. A few hours after she was born, the NICU doctor came in and told my husband and I that they believed our daughter had Turner Syndrome. We had never heard of this before and while listening to the doctor and looking at our precious daughter (who was my easiest pregnancy out of the three), I just remember feeling like I was in a dream. The next day was then filled with my husband and I looking up some information on our laptop and figuring out exactly why the doctor was thinking our daughter would have Turner’s. Early the next morning, Jena was not pooping so the doctors wanted to do an ultrasound and figure out if there was any reason why she was unable to have a bowel movement and it was then during one of their many tests they were running, that they found that not only did Jena have a blockage in her bowels, but also had not one, but THREE congenital heart defects! That morning was absolutely the worst moment of my then 23 years. My husband had gone out to breakfast with his dad and I was alone in the hospital room recovering when the neonatologist came in the room to give me the news and I just remember feeling so scared. The joy of being a new mom suddenly rushed out of my body and the image of having to say goodbye to my daughter suddenly gave me the most sick feeling to my stomach. The neonatologist also worked at a nearby (about 50 miles away) children’s hospital, so he was saying things such as having Jena “transported” there and then they would be able to give us more information. In reality he was saying to me “we cannot do any more for your daughter here and we need to have a team come here to get her because she is critical.”
That day, the transport team was able to send a medical vehicle (they were unable to send a helicopter due to the impending tornado watches/warnings that were going on that same day) and was able to take Jena to the University of Iowa Children’s Hospital just moments after we were able to have her baptized by a local pastor. The next several days meant lots of doctors, nurses, and tests for Jena. Thankfully Jena’s bowels did start working at the children’s hospital and we were so relieved that things were starting to look hopeful.
However, the next hurdle, her heart issues had the cardiologists and thoracic surgeon come to a conclusion. Jena would need heart surgery to repair her heart issues. Jena had heart surgery when she was only eight days old and thanks to God, the many nurses, doctors, surgeons and everyone else, Jena made it out of the surgery with two out of her three heart conditions corrected. The only one that remained was her ASD (atrial septal defect) and the surgeon/doctors were hopeful that it would close up on its’ own in the upcoming years. I am happy to say Jena had a wonderful recovery from her surgery, we were able to leave the hospital when she was twelve days old and today Jena’s heart is doing wonderfully. Her ASD has shrunk to the point that at her last cardiologist visit, the doctor had to re-read her chart because she was “unable to tell that Jena had any kind of heart surgery because the repair was done so wonderfully.” This was the greatest news we ever received. I can’t express how grateful and thankful we are to the wonderful doctors, nurses, surgeons, everyone that helped save Jena’s life.
Several months after her surgery was done, we ended up getting the genetic testing back for Turner Syndrome and it came back negative; Jena did not have Turner Syndrome. From there the geneticists have been looking towards Noonan Syndrome, which is Jena’s current clinical diagnosis today. Although after 9 years of testing for all the genes they have been able to identify that are genetic markers for NS, all of Jena’s tests have come back negative, still. There is still much research and work to be done in order to identify all the remaining genetic markers for NS (I believe to date there are only 13 that have been identified), so we do what we do best, wait.
Jena with Dr. Jacqueline Noonan who discovered Noonan Syndrome.
Miggy: Can you please educate us about Noonan Syndrome and explain how Lacey is affected by it and how her needs affect your day-to-day life.
Lacey: Noonan Syndrome is a genetic condition which affects approximately 1:1,000-2,500 births. Individuals with NS may experience issues in all parts/systems of the body, which is why it is considered a multi-system disorder. Some of the possible issues with Noonan Syndrome can include: bleeding issues, congenital heart defects, lymphatic abnormalities, growth issues, feeding and gastrointestinal issues, learning disorders, autism, chronic pain (unexplained), chiari malformation, hypotonia, ptosis, skeletal malformations, orthopedic issues, ophthalmology issues, oncology issues, and many more. Jena currently has a team of up to 12 specialists, some of which just monitor her.
Jena’s main conditions currently are her heart issues. As stated earlier, she was born with 3 congenital heart defects (PDA, ASD, and coarctation of the aorta) and thanks to her life-saving heart surgery when she was eight days old, they were able to repair two of the defects and the remaining defect, her ASD has shrunk on its’ own over the last 9 years. Jena also has a chest deformity called pectus excavatum which causes her to have decreased lung capacity and is currently on an inhaler for any flare-ups when she is overly exerted. She also has some undiagnosed immune system issues and tends to get colds/coughs/viruses a lot easier and it’s much harder for her to get rid of these when she does get them. She also has some bowel issues, so gastroenterology is a frequent specialist for us but looks to be somewhat controlled now after several years. Other than these and some other specialists that she sees on an annual basis, Jena has exceeded all her doctors’ expectations and has excelled both in the classroom (she is in a typcial, public school setting) and in some sports including dance/tumbling and softball. As for her diagnosis of Noonan Syndrome, it is still in the process. As of June 2016, Jena underwent whole exome sequencing which has since come back as inconclusive, so she will continue to have the clinical diagnosis of Noonan Syndrome until more tests are available. As her parents, we like to think of Jena as being perfect just the way she is. For more information on Noonan Syndrome, please visitwww.teamnoonan.org which has been as been a wonderful source of information and support for our family and many others.
For the most part Jena’s day to day life is somewhat normal compared to other special needs children. She goes to school, she’s doing excellent at her schoolwork and behavior-wise at school so she only needs a 504 plan right now for things like preferential seating in her classroom, modifications like using a computer/tablet when her hypermobility is causing her pain and her ring splints are not helping. Otherwise on the days when Jena has a doctor’s appointment or specialist visit, then we go to those and any required testing those require. With a total of 12 specialists now, and possibly adding a 13th not counting her eye doctor, pediatrician, dentist, physical therapist and counselor it can be overwhelming just getting to all her appointments and therapy visits.
Miggy: What are the biggest worries you have for Jena? On the flip side, what are the hopes and dreams you have for her?
Lacey: My biggest worry for my child is her keeping her self-confidence and positive attitude her whole life. We have told Jena since she was pretty young that she is a little different from other kids but that just makes her more special and precious in our eyes. Unfortunately the last couple years have brought a few bullies at school, so Jena has already been faced with the cruel looks, comments and physicality of bullies in her elementary school. My worry is that because of these people, Jena will lose her confidence that she has and will become depressed as she gets older. On the other hand, I know that with the right support system (family, friends, teachers, etc) she will be able to do great things in and out of school. Jena is a very intelligent young girl who has the biggest heart and I know that these two attributes alone will take her many places on her journey. Jena already has hopes of getting married and having children when she gets older. I want this more than anything for Jena and know that she will be a great nurturer because of the caring nature she shows towards her family (especially her little brother) and other younger children.
Miggy: Now for a lighter question, I’m a big believer in seeing the humor in life and learning to laugh, so have you ever had any funny conversations/moments you never imagined due to your special needs situations?
Lacey: Yes! I didn’t ever think that as Jena grew we would have as many questions regarding Jena’s bowel movements but we do! On any particular day, especially if Jena is complaining of her typical stomach pains, I’ll ask “have you pooped today, did it feel loose or hard?” Questions like that definitely are not what I imagined saying to my 9 year old but are definitely important!
Miggy: How can people best approach or respond to Jena? Is there something you wish other people knew so as to avoid awkward or hurtful situations?
Lacey: Thankfully Jena has not had too many hurtful situations but those that she has had, she has approached them wonderfully. Lots of kids will question Jena about her neck (since most kids with Noonan’s have a webbed neck) and she will simply say, that’s because “I’m special and unique; you are too in your own ways.” Jena is a bright, caring young lady who just wants to be treated like anyone else, she just has some extra things we have to be careful of/watch for medically such as getting a cut, making sure she clots and the bleeding stops in a reasonable amount of time, or if she has a cough/cold that just will not get any better.
Miggy: I know from firsthand experience what a special role siblings can play in your special needs journey. Is there anything you’d like to share about your other children and their relationship to your son/daughter?
Lacey: I think Jena’s brothers have been a lifesaver for Jena, my husband Solomon and I. Jeffrey (Jena’s older brother) is only 13 months older than she is and has grown up alongside Jena. He has gone to all the doctor appointments, out of town to the specialists, gone to the therapy appointments–they even potty-trained around the same time together, because it was just easier. Jena has always wanted to do things that her brother does including baseball/softball and we have let her. One year they were even on the same team since their ages allowed them to play together and they did great! I think this has been wonderful for Jena because they both love to play sports and like the idea of competing against others, and the feeling of loss and victory. To date, Jena has played on 2 championship softball teams (city wide).
Jeffrey has also become Jena’s “protector” at school. It’s at these times that I am so grateful to have not only Jena but also her older brother who is always looking out for her. They may fight like cats and dogs, but I truly know they both love each other and I know Jeffrey is the typical protective big brother and doesn’t like anyone (other than him) picking on his sister.
Jena also has a little brother, Jordan (5 years old) and he has been our comic relief. Jordan is the perfect little brother that loves to bug his big sister but at the same time, he knows just the right thing to do in order to bring laughter and smiles to our very long days, even those when we didn’t think we would smile or laugh. We call him our comic relief that was meant to bring sunshine to our lives.
Miggy: What is the biggest lesson you’ve learned since becoming a special needs mom?
Lacey: The best thing I’ve learned in my years as a special needs mom is NOT to take any day for granted. Take the days that your child will willingly finish their dinner and celebrate it, be thankful when you take your child to their conference and they are getting along well in their class, be grateful when a cold is just another cold and you don’t have to take your child to the ER or another specialist and can just treat them with chicken noodle soup, tissues and plenty of hugs and kisses. Believe me, there will be plenty of days where you will cry yourself to sleep but just think of 1 thing that day/week/month that HAS gone right and hold on to that to get you through the bad news you may have gotten. Tomorrow is never promised.
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“Tomorrow is never promised.” I love that. And it’s so true. While it can be hard to always be grateful in the moment, I truly think gratitude is a key to a happy life. It really struck me when you said that since Jena hasn’t tested positive for NS yet, you do what you do best…wait. I think that waiting and the subsequent patience that is cultivated, is one of those things special needs families become good at. You learn to let go of so many expectations and just see. You wait. And it’s not giving up or giving in, it is learning to live in the present with what you have now. I’m so glad Jena has two very loving and loyal brothers. Siblings are absolutely they best aren’t they? Thanks again Lacey and so much love to you and your sweet family!
You guys I’ve had so many wonderful spotlights lately–it’s been fantastic! So thank you. And if you or someone you know would like to be featured, please email me at thislittlemiggy at gmail dot com and I’ll get back to you as soon as possible.
Have a great weekend!
XO
Miggy
Thanks for sharing! For what it's worth, she totally looks like my friend's daughter with NS. They joke that the NS conferences must look like family reunions because of the similarities between people with NS… So I know it's not "official", but still.