Alana's Remarkable Journey - by Crystal Peek
My daughter Alana was diagnosed in utero at 20 weeks. She had a significant cystic hygroma and an abnormal kidney on the ultrasound which led to an amniocentesis. Turner Syndrome (TS) was highly suspected but her exact kidney abnormality was not a common one for TS and we did not live near a hospital that had a NICU (neonatal intensive care unit).
After confirmation from the amniocentesis that she had classic TS, we were switched to a high-risk maternal fetal medicine doctor for the remainder of the pregnancy and the University of Washington Hospital in Seattle that had the support she may need after birth. We had doctors and genetic counselors suggest termination many times. Grim statistics were shown, we were told she had a 1% chance of survival.
We had fetal echocardiograms done to check her heart; these are really hard to get accurate diagnoses from - especially back in early 2002. The doctors thought she had a more severe heart condition that may need surgery right away. Thankfully at birth, the more accurate echo showed she did not. She only had a bicuspid aortic valve and a small membrane of extra tissue below the valve.
The rest of the pregnancy went okay with regular monitoring until I developed preeclampsia. Alana failed some non-stress tests and the doctors decided that that, along with my blood pressure, meant she needed to come out early at 36 weeks. There was some difficulty during her birth. We were at a teaching hospital and there were easily 20 people in the room, including the NICU staff. She had two huge cephalohematomas on her head, an injury from the birth canal. They were roughly the size of a golf ball on each side of her head. Due to these she had a brain scan, which showed a minor brain bleed that would heal on its own. The hematomas would heal too, eventually, many months later. When the placenta was delivered it basically crumbled in many pieces, which was likely the cause of the high blood pressure and Alana failing the non-stress tests.
If they hadn’t been monitoring her regularly and delivered her early, she probably wouldn't be here today. There is no way that placenta could have supported her for another 4 weeks. She stayed in the NICU that first night, and in the hospital for 4 days. She had only one functioning kidney; the other was enlarged, dysplastic, and covered in cysts. She could function for life with the one good kidney, but her body needed it to adjust to taking on all the work. Each day her kidney adjusted until her function was near normal levels. Her heart was stable. She had begun drinking small amounts of milk, after some difficulty at first. We had to supplement a special prescription formula for kidney patients. And we got to go home!
She was jaundiced and sent home with a Bili Bed. She was to be in this bed as much as possible until her bilirubin decreased. She was in it a few days; we were thankful she was able to use it at home and didn’t have to stay at the hospital any longer. After follow up appointments with all new specialists at Seattle Children’s Hospital and the University, she was stable. Her kidney was working well, although she did have testing that showed she had some kidney reflux - where some urine backs up to the kidney. She was put on a prophylactic dose of antibiotics for the first year. They wanted to do all they could to preserve her good kidney since it's all she has.
Her heart was okay too. But her hips were not. Both of her hips were not in the correct place; she had hip dysplasia. This is common in girls, especially common with girls with TS. She was to wear a harness, called the Pavlik for 2.5 months. Day and night. We had to bathe her at the doctor’s office once a week for the first few weeks. She pretty much lived in onesies. Then we were allowed to take it off at home for quick baths or changes. It was very uncomfortable for her to sleep in the position the harness forced her body into. The doctors suggested sleeping in her bucket car seat instead of a bassinet or crib. This was the only way she could sleep for the first few months. Thankfully, the harness did its job and she didn't need any further treatments. Sometimes, surgery and casting is needed.
Alana was enrolled in birth to 3 services right from the beginning, getting occupational, speech, feeding, and physical therapies. Even while she had the harness on, she got these therapies. They helped us introduce solid food and helped us engage with her and adapt things for her. They made foam inserts for her highchair that kept her upright and boosted so that she could eat. She didn’t have the core muscle strength to hold her body up. Alana really enjoyed all the sensory activities they would do with us.
Alana had some dysregulation and they helped by making her a few weighted vests. Due to the lymphedema/puffy feet she rolled her ankles when she walked, so they had ankle and foot orthotics fitted for her. I couldn't begin to tell you how much and in how many ways they helped us in the beginning. At about 8 months old, Alana had some petechiae spots on her legs and a fever. The doctor was extra cautious, fearing a severe infection. He sent us by ambulance to Children’s Hospital. After 3 days of testing and running through the course of IV antibiotics, the infection was never found, and her symptoms improved. Looking back, after more experience and seeing that petechiae can be common in girls with TS due to lymphedema, I honestly think it was coincidental that she probably had a virus and the petechiae was a due to her lymphedema because it had been present before the illness.
During that hospital stay, they did a new echocardiogram and found that she had a significant coarcation of the aorta (narrowing in the main artery) that had not been present before. So, the doctor being extra cautious, was a blessing in disguise because we would not have seen this until much later without that hospital stay. She had been seeing the cardiologist at the university that was there during the pregnancy and birth. We made the decision to switch to the Children’s Hospital cardiology team since they found the coarctation and I felt they could handle her surgery and care better.
Alana was scheduled for surgery but because of her kidneys, she did not have the typical repair. That requires clamping the aorta and temporarily blocking blood flow to the kidneys. They did not want to risk damage to her good kidney. The team sat down, cardiology, nephrology and the ethics committee, and decided on a balloon angioplasty. In this approach they insert a balloon through the artery in the groin and when it’s in the correct place, they enlarge the balloon to widen the narrowed area. It’s less invasive but also sometimes doesn’t work well and has a higher instance of reoccurrence of the coarctation. It carries a risk of thinning the wall of the artery. It went well!
Time went on, Alana started to show some abnormal behaviors that were not consistent with Turner syndrome. At first there where a lot of sensory issues that interfered with her life. I looked up sensory integration disorder. That led me to autism. Alana had nearly all the signs. She was formally diagnosed in February 2005 right before her 3rd birthday. She continued to receive OT/PT and speech therapy through the school district when she turned 3. She was in developmental preschool classes then life skills classrooms. One modeled the TEACCH program targeted for autism. She thrived with this sort of approach.
Alana caught every illness you can think of it seemed like, in the classic form/symptoms. She had roseola, scarlet fever, hand foot mouth disease, etc. She had multiple ear infections, had ear tubes and adenoids out as a toddler. She had new ear tubes and a tonsillectomy a couple years later. At around age 7 she developed the short 4th toe. I knew this was a sign of TS; I didn't know that it's not present at birth. As she got older the difference in size increased. It started causing pain in her foot from the imbalance of weight distribution. She had special shoe inserts made but she didn't like them. It still causes her pain especially on longer distances like visiting the zoo or the theme park. We use a wheelchair for these types of places. Surgery is an option for some but not for her. She would have to stay off her feet for at least 6 weeks. And if you've ever met her, you would laugh at that statement. The surgery also doesn’t have a high success rate of taking away pain, although there is cosmetic improvement. If one doesn’t stay off their feet for the 6 weeks, it can make the problem much worse! With her kidney condition, typically the non-functioning kidney shrinks until it is virtually absorbed by the body. That didn't happen. If it doesn't shrink and is not removed, it increases the chance of infection, causes increased blood pressure, and even cancer. So, it was removed at age 12.
Since Alana is significantly affected by autism, some things may look different for her as compared to another girl with TS. One example is growth hormones (GHT) and hormone replacement therapy (HRT). We did growth hormones for about 2 years when she was a toddler/preschooler. It became too difficult and stressful to continue. Her height didn't respond as well as we would have liked, despite dose increases. The decision to stop was made. It was a hard choice but sometimes other factors need to be considered like what is right for that individual. Alana ended up reaching 4'9", which is taller than her 4'8" grandmother!
I went to a symposium recently that suggested that the first two years of growth hormone therapy are the most significant, so I’m glad we did those two years, but I’m also glad we made the choice to stop when we did. When it came time for HRT, we held off for a few years, due to behaviors and lack of self-help/adaptive skills that come with her autism and developmental delay. She started HRT right before turning 16. While we didn’t want the periods that come along with puberty, we know that heart and bone health are important. Our goal was to get those benefits from HRT without the period. It took us awhile to get there but at 17 she got the regimen that works for her.
Alana is now almost 20 and is monitored regularly for her heart as she has a dilated aortic root and high blood pressure putting her at increased risk for dissection. She has a medic alert bracelet and has since birth. The wording has changed over the years. Per her cardiologist it now reads: Turner syndrome, autism, aortic aneurysm, at risk for dissection, and allergic to Ceftin. She gets regular cardiac MRIs under anesthesia due to autism. In between those, she has echocardiograms. She is treated for high blood pressure and monitored annually with a 24-hour monitor to be sure that her blood pressures remain stable even overnight. Along with the MRI screenings, keeping her blood pressure under control is the best way to reduce risk of dissection.
Alana has come a long way since that grim 1% statistic, and all of the hurdles along the way that she has overcome. She is happy. She is still in school and is in the 18 to 21 transition program for adults with disabilities. She does job training a couple days a week in the hopes that when she leaves the program, she will be active in the community. She loves to travel. She has taught us and countless others many things. She will always need assistance in life in order thrive, but she will thrive and that’s what matters.