Inspiring Hardship Stories
Lennon
Hardships- Cystic Fibrosis, Congenital Hypothyroidism, Congenital Scoliosis, Ectodermal Dysplasia
Lennon was diagnosed with Cystic Fibrosis (An inherited life-threatening disorder that damages the lungs and digestive system) and Congenital Hypothyroidism (a condition in which her thyroid was underdeveloped in utero resulting in less production of critical thyroid hormone) at birth through the newborn screening.
*Newborn screening in Pennsylvania is completed to ensure every newborn is tested for genetic diseases. The testing performed identifies babies with certain disorders which, without intervention, may permanently impact newborns and their families. Early recognition and treatment of most of these disorders leads to a better outcome for the newborn.
Without this newborn screening Lennon’s life outcome would have been much different. Without any medical intervention Lennon would have developmental disabilities among many other challenges. She also wouldn’t be getting the important life prolonging treatment that is needed when diagnosed with cystic fibrosis.
At age 3 Lennon became diagnosed with congenital scoliosis through a routine lung x-ray for cystic fibrosis. Congenital scoliosis is a deformity of the vertebrae bone during development in utero. Typically congenital scoliosis results in surgery potentially during teenage years.
The road doesn’t end there as Lennon was recently diagnosed with Ectodermal Dysplasia. Ectodermal Dysplasia is a genetic condition in which ectodermally derived structures (in Lennon’s case teeth, skin, nails and sweat glands) develop abnormally. Currently Lennon is showing that she is missing all of her bottom adult teeth as well as two adult teeth on top. She has a long dental road ahead of her as this has become a very complicated situation.
However through all of this you would never know Lennon endures such hardships! She is a beautiful, happy, free spirit. She tells people she has cystic fibrosis nonchalantly and does her treatments in stride. Even though Lennon is my 6 year old daughter I look up to her in so many ways. She is not strictly defined by any of these illnesses, however they have created an outstanding resilient little human that the world deserves to see. That is why she is a Hardship Hero!
Dorothy
Hardship - Turner Syndrome (TS), Congenital Heart Defects (CHD), Congenital Anomalies of the Kidney, Ketotic Hypoglycemia, Hypertension, Eustachian Tube Dysfunction (ETD)
Dorothy's Story Written by her mother
"Dorothy’s hardship knowingly began at her routine 20 week ultrasound. Her long bones were measuring a little short, and she had some swelling (fluid buildup) around her head and neck. After noticing these slight abnormalities, and seeing that she was a girl, the doctor’s suspected Turner Syndrome (TS, a non-hereditary, genetic disorder in which a female is missing part of, or an entire X chromosome). After meeting with a geneticist, we underwent an amniocentesis to confirm the suspected diagnosis. Turner Syndrome can cause a variety of other health issues, including, but not limited to; short stature (affects 95% of TS girls), heart complications, kidney problems, hearing loss, premature ovarian failure, infertility, and many other possibilities; so, for the next 20 weeks of our pregnancy with Dorothy, we had heart scans, frequent ultrasounds, meetings with doctors, and non stress tests. This pregnancy was also complicated with Gestational Diabetes.
Although knowing about this during pregnancy caused major anxiety and stress (only 2% of babies with Turner Syndrome survive until birth), it also allowed us to mentally and physically prepare for our daughter. We met with a Pediatric Endocrinologist (primary specialist for TS) who was more than happy to talk to us before our daughter’s arrival. Through all of the continued tests and scans, everything seemed to be fine, until 38 weeks gestation.
At my last planned ultrasound, around 38 weeks, they could finally see her heart well enough, and they detected a slight narrowing in her aorta (coarctation of the aorta is one of the most common heart conditions related to TS). At 38 weeks, our birth plan had changed instantly; our doctors got us an appointment at Children’s Hospital of Philadelphia (CHOP) to be checked out and to see if we qualified to give birth in their Special Delivery Unit (SDU). If she did have coarctation of the aorta, she most likely would need to be operated on shortly after birth; if we gave birth at CHOP, she would already be in the “right place” for this operation.
Within a week we had an appointment at CHOP, was accepted to deliver in their SDU (although they didn’t expect coarctation, just a slight narrowing), and had an induced birth planned for a few days later. We went home (about a 2 hour drive), packed our bags, secured a house sitter for our cat and dog, and left to stay in Philly for the days preceding our planned induction, just so we were close in case anything unexpected happened. At 39 weeks, 1 day (2 days before I was to be induced) I went into labor, precipitous labor (it happened really fast). Our hotel was only a few blocks from the hospital and we barely made it to the delivery room.
After a fast and furious delivery, we were able to hold Dorothy for a few minutes before they took her away for monitoring in the Cardiac Intensive Care Unit (CICU). Dorothy spent 5 days in the CICU while the doctors did more tests, scans, and monitored until her Ductus Arteriosus closed (the blood vessel that closes a few days after birth). After that closed, they would have a better idea of how her blood was flowing through her aorta and heart on its own. After finding out that she did not have a coarctation, just a minor narrowing as they suspected, (in addition to 2 other minor heart abnormalities: Bicuspid Aortic Valve BAV and Partial Anomalous Pulmonary Venous Return PAPVR) and seeing that her blood flow was acceptable, we were released from the CICU. But during her 5 day stay in the CICU, she was struggling to keep her blood sugars up, so we were immediately transferred to the Endocrinology floor of the hospital, where they took over. We spent 9 more days in the hospital learning that Dorothy had another rare disorder called Hyperinsulinism (HI, the body produces too much insulin, so blood sugars stay too low - think the opposite of Diabetes). Although rare, this is also more common in girls with TS and luckily CHOP has the largest and most active HI department in the world. After more blood work, tests, fasts, and learning about another disease and how to administer her medicine, we were finally able to take Dorothy home with a myriad of medications, strict feeding instructions, packets of information, and many follow-up doctor’s appointments already scheduled.
The first year of Dorothy’s life was very hard on her parents, but you would have never known anything was “wrong” with this amazing child. She had medication daily for her blood sugar, and we had to test her blood sugar 3x a day, while making sure she ate every 2-3 hours (even throughout the night). Her heart continued to be monitored every 3 months for any changes, and we were able to meet with a closer Endocrinologist (the one we met with prior to her birth). She had some slight gross-motor delays and suffered from lymphedema (swelling) in her feet, so she also attended physical therapy and was fitted for a pair of custom compression socks.
With constant monitoring of her blood sugar levels, her doctors were happy with numbers; around 8 months she went through a Cure Fast; this meant she fasted (in the hospital) for 24 hours and her blood sugar levels stayed high enough to be considered cured of Hyperinsulinism. With that she was “downgraded” to Ketotic Hypoglycemia because of her unstable ketone numbers that occurred during this fast. With all that was going on Dorothy’s first year or two of life, her TS diagnosis was at the “bottom” of our list of medical concerns.
As Dorothy reached the 2 year mark, many of our initial medical concerns had practically gone away; she no longer had hyperinsulinism, her lymphedema had almost completely disappeared, her heart continued to show no signs for concern, and she continued to grow at a healthy rate. Dorothy actually had a 2-3 month period where she wasn’t taking any medication for the first time since birth.
Then we got hit with hypertension; Dorothy’s blood pressure had always been slightly high at her cardiology visits, but it was always just chalked up to her being upset while getting her blood pressure taken. The trend continued even after she had gotten more comfortable with getting her blood pressure taken, so she was prescribed medication to help lower her blood pressure. After about 6 months she was weaned off this medication because of her good bp levels, but she was quickly put back on the medication after showing high levels again without medication.
Because of these unexpected bp levels, our Cardiologist referred us to a Nephrologist to make sure her kidneys were functioning properly. This new specialist discovered that Dorothy had some extra arteries to her kidney’s; this along with her heart conditions could easily be causing the high blood pressure. Luckily, the solution was to simply keep her on the blood pressure medication she was already taking.
The biggest hurdle, today, I think, would be her growth hormone regime. As mentioned before, 95% of girls with TS have short stature. Interestingly, it is not caused by a growth hormone deficiency, but by the SHOX gene. At age 3 Dorothy started to fall off of the growth charts, so we began discussing Growth Hormone Therapy (GH) with her Endocrinologist. Around the age of 3.5, she started taking growth hormone injections daily at home (we call it her growing medicine). Dorothy will continue these injections daily until around puberty. With the use of GH, girls with TS can gain anywhere between 2-5” more than if they did not take GH; but GH also helps bone and muscle growth, as well as regulating several systems in your body. Obtaining GH each month, through a specialty pharmacy, is no walk in the park… although we are lucky enough to have great health insurance and secondary insurance through the state, we still struggle almost every month with some glitch in receiving Dorothy’s GH. Once she reaches puberty age, we will most likely need to swap her GH for Estrogen, as most TS girls do not start puberty on their own.
Today, Dorothy is a happy and healthy little girl; attending pre-school, making friends, taking ballet and driving her parent’s crazy with her strong will and sass! She loves space, princesses, reading, and being outside (you can regularly catch her hiking in a tutu!). Although she has many medical conditions and concerns, none of them affect her day-to-day life. She is provided with accommodations at school for her short stature, but nothing else about her is “different”; in fact, she is quite advanced verbally (also common with TS).
In addition to her normal pediatrician and dentist appointments, Dorothy also continues to see an Endocrinologist, Cardiologist, Nephrologist, Otolaryngologist (ENT), and Audiologist. We will continue to follow-up with all of these specialists, and will “just keep swimming” as new things come up, because they probably will for the remainder of her life. But as things change, we just continue to adjust to our new “normal”. She will always be one of the strongest girls we know."
And that is why Dorothy is a Hardship Hero!
