When I first discovered that I was pregnant with Savannah at just 8 weeks something immediately felt off. Having a child before I found myself questioning that I didn’t feel any clear signs or symptoms of pregnancy. I remember thinking that something might be wrong and that unfortunately my body may reject this unexpected and precious gift. I worried and wondered until we had our first OB appointment at 13 weeks. When I saw her little heartbeat I was so relieved!
Just when we thought we were in the clear the ultrasound tech said she had to bring in a doctor. My heart sunk and I knew in that moment that my instincts had been right. There was a problem with our growing baby. The doctor came in and kept quiet as he circled the same area of my abdomen over and over again. He finally looked at my husband and I and said, “one kidney is extremely large, much larger than it should be at this time.” He explained nothing further and said we would need to be followed by a maternal and fetal health specialist.
This is when our journey really began. We followed up with the suggested specialist where we were informed that she had “hydronephrosis” essentially a birth defect that was causing her to retain urine in her kidney. We were informed that she had a 30% chance of having other birth defects as well that may not be seen via ultrasound. We were asked if we wanted an amnio and then the dreaded topic of abortion was presented. We denied both. There was lots of talk of a premature delivery or the possibility of inducing me early to perform emergency surgery on her kidney. A ton of worry, stress and fear had fully taken over. We continued to see our specialist along with our regular Ob-Gyn over the remaining course of the pregnancy. I had more ultrasounds and non stress tests than I could keep track of.
I went into premature labor at 28 weeks and again at 32 weeks, I was given medication to reduce contractions and shots to mature Savannah’s lungs; just in case we couldn’t keep her in any longer. Luckily she stayed put just long enough to make it full term, 37 weeks ! She entered the world at 6 lbs. 3 oz. She was BEAUTIFUL!
During her initial physical it was noticed that she had a cleft palate, microcephaly, bilateral Simian creases and several other markings that appeared to be syndrome like. But strangely for the first time since finding out we were expecting, I had no fear. I looked at her beautiful little face and I felt at peace. I knew that we had a lot ahead of us but I also knew that we would be ok. She had some breathing difficulty and was refusing to eat, so she was transported from her birth hospital to a major medical facility several hours away.
We met a team or physicians in the nicu, a geneticist, a cardiologist, a pulmonologist an ophthalmologist, and a neurologist. They immediately began to test Savannah for every possible syndrome they thought she might have. Test after test came back negative or normal. We had an extremely hard time with feeding, and she just wouldn’t eat. A therapist came in to work with her do to her cleft palate, but still no luck. It was at that point that a gastroenterologist wanted to perform a scan to make sure that her everything was okay with her intestines. Her results came back that she had a malrotated intestine. (another birth defect)
At 2 weeks old, Savannah went through surgery to correct this problem and have a G-tube placed. We spent another 6 weeks in the NICU before being discharged with no answers. After Savannah came home she started to have serious blue spells, she was re-admitted to the NICU for an additional 2 weeks to run further testing where it was discovered that she had severe reflux. With anti-acid medication and a pulse ox monitor we were finally going home.
Weeks and months were flying by and all although Savannah wasn’t growing much she seemed healthy. We continued to have follow-up appointments with all of her specialists and tested for new syndromes with every chance we got. Months turned into years. Savannah had severe developmental delay and did not sit unsupported until she was 18 months old. She began to crawl at 2 and 1/2 years old and pulled to stand for the first time at age three. She was seeing therapists multiple times a week for feeding, speech, occupational and physical therapy.
When Savannah was three and a half years old she woke up late one morning (not like her), she appeared to be getting sick, no fever but she looked sleepy and was occasionally gagging. In just a few short hours it was clear that Savannah was in serious distress and something was terribly wrong. We rushed her to the ER, she had to be transported to a nearby hospital via helicopter where it was confirmed that she had a large bowel obstruction. Her body was going through septic shock and she had to be put in a medically-induced coma immediately. She was sent in for emergency surgery where they corrected the obstruction and resected several inches of dead bowel. She required 3 blood transfusions and was left open for 24hrs before they had to take her back into the OR and & resect yet again. She had an extremely hard and difficult recovery ahead of her. She was kept in a sedated coma for 3 weeks total and against all odds was able to fight through the worst time in her life and come back stronger than ever!
A few months later at our annual follow up with our geneticist she had mentioned that she would like to try to get Savannah approved for whole exome sequencing. It was through this test that a diagnosis was finally made! 4 years later! Savannah’s test had come back with a spontaneous nonsense variant in her kat6a gene. At the time we were told that she was the second person EVER to be diagnosed and we had no idea what it meant or what to expect. We agreed to have her results and findings published in hopes that others undiagnosed wouldn’t have to go through years of not knowing.
We researched Kat6a endlessly, we tried to find anything and everything we could online and in medical books, but got nothing. 2 years later we finally found a website randomly on the internet about a child with kat6a! Finally we weren’t alone! We reached out to the family and to our amazement we discovered that there was a Facebook page where families who had loved ones diagnosed were coming together! Several more diagnoses had been made! It was astonishing to see the similarities in the facial features of our children and to hear how much they were all alike. Little by little our group was growing.
Our published papers and reports were working, our consent to make Savannah’s results from exome sequencing public had allowed other families to find hope and answers as well. Today we are still searching for help, understanding and treatment. Not much is known about kat6a but we are now at one hundred and seven people strong and we will not give up!
Savannah is now seven years old, she still has many difficulties in life but with perseverance comes progress. I’m thrilled to share that she just learned how to walk independently this year! She is a complete Joy to be around, so easy going and happy all the time. We couldn’t imagine our lives without her and without doubt we are better people because of her! Looking back on Savannah’s story isn’t easy she’s been through more tests, procedures, surgeries and obstacles than anybody I know. As her parents we have had to face plenty of heartache, frustration and anger along the way but who doesn’t!? Life is a beautiful struggle sometimes and as long as we can help just one person to find hope, and happiness through her story then it’s worth reliving it a million times! We try to take things one day at a time now and try to live each day to the fullest ; instead of living in fear of the unknown. We are so proud of savannah, how far she’s come and all of her accomplishments and we look forward to all the happiness and triumphs for her that are still yet to come.