Yen’s Baby Shudders – My Daughter’s Fight to be Normal

Yen at two days oldYen’s Start

My daughter Yen (Her friends at school do not know about her condition so we are using her Chinese name for this article) was born just over nineteen years ago in the early hours of a Sunday morning. We were released from the hospital late in the afternoon of the same day. She had been having little sets of shudders, but we were told it was normal.

By late Monday morning, less than thirty-six hours after her birth, we were in Seattle’s Children’s Hospital emergency room. Her little baby ‘shudders’ were actually seizures. Her cries as they performed the required blood tests, spinal tap, exams, and so many other tests I don’t remember, still haunt me.

After six hours, two very studious resident doctors hauling a heavy cloth-bound medical book came to explain the seizures were because of hypocalcemia. Lack of calcium in the body. With a daily calcium supplement added we left the hospital five days later with a tiny girl with a bow-shaped mouth and a heart-shaped face. Everything was perfect again.

Too much coddling and over-protective parents.

At first, we thought her delay to walk or even making the initial sounds of a toddler were because her Gōnggōng (Grandfather) never allowed her to do anything. He carried her everywhere and she only had to point and he would get whatever she wanted. The doctors said it was the result of a little too much coddling and over-protective parents. We semi-changed our ways as we had another daughter in 2001 and a son in 2006.

We realized it was not enough. She was still having issues. On the recommendation of her teacher, she attended an extra year of preschool, because she wasn’t able to do some of the basic skills required for her to move up to kindergarten. Yen was behind on all her milestones. We noticed a significant difference as our second daughter was reaching milestones at the same time as her older sister, sometimes surging past.

A routine doctor’s appointment

We went to an appointment in early spring 2007 at Children’s Hospital a routine checkup for my son, but it was not long before the doctors wanted more details, not about my son, but about Yen; a lot of information! For thirty minutes they had me repeat Yen’s entire childhood. They asked if they could do a blood draw – It was probably nothing, but they wanted to check a couple of things. They wanted to do a FISH – Fluorescence in situ hybridization. The technique that uses fluorescent probes that bind to only those parts of the chromosome with a high degree of sequence complementarity.

In less than a week they called and said, “We would like you to come to the hospital.” The next thing I remember, we were sitting at a beautiful wood conference table as a doctor gave us answers, to questions we hadn’t even known to ask. Yen was born with a 22q.11.2 Deletion – DiGeorge syndrome. Hypocalcemia, hearing loss, delayed walking, speaking, and learning disabilities were all normal for a child with her genetic condition. We were one of the lucky ones. She didn’t have the heartbreaking issue of cleft palate, congenital heart defect, or autoimmune problems.

The Struggle to Succeed!

We breathed a sigh of relief. We finally had the right knowledge and with determination, we proceed to help her get through every year of school. Every IEP meeting, every teacher’s conference and anything else that was required along with extended doctor’s visits, even allowing Yen’s name to be added to a research program at Children’s Hospital that was focused on children with DiGeorge Syndrome. We spent countless hours reading research studies from around the country on the latest news of the syndrome. Whatever it took, we did it. With brute force memorization, we helped her learn all the things she needed to make it to the next grade and to pass the state tests.

When she was diagnosed in 2007 we were in the process of finding a new home and decided if we were going to move it would be to one of the best school districts in the state. We found most school districts had little resources to work with a child with Yen’s needs. After more research, we decided on a district with nationally ranked schools and a regular staff of counselors, psychologists, nurses, and paraeducators available.

We consider this decision, one of the best in Yen’s life.

Bellevue School District and Teachers Made the Differencebsd405, bellevue

The Bellevue School District has made the difference! Instead of ignoring her, BSD has gone to extraordinary measures to ensure Yen’s education would help her succeed in school and with life after she graduated. She was taught study and social skills. With the help of her teachers, she learned to advocate for what she needed. Requesting additional time on papers, an audible explanation of a question, extra tutorial time. Every teacher was there for her and went above and beyond for the entire ten years she has attended.

Moving into adulthood

When she turned eighteen last year a doctor added Adderall to her daily regimen. We saw her quickly gain ground on maturity milestones and she braved moving out of a special targeted English class to an honors class that she’s passing with an A. She still can’t take the SAT but she is due to graduate in June with a diploma of individual achievement with a 3.23 GPA.

But there is a very special award she has been working hard throughout high school to achieve – The Knight Valor – indicating she will have completed 140 hours of volunteer time.

Her love for video production and volunteer work merge.

dog, cat, humane

Bellevue, Washington

Because of a wonderful teacher that had mentored her through four years of high school, she has learned video production and that compliments her desire to do 2D animation. That love has helped land her a volunteer position at the local Seattle Humane in Bellevue working with the cat video production team.

This is a dream volunteer job for a cat lover and an aspiring video production student! The cats are not always cooperative, but she has been determined to do it.

New Setbacks

On April 20th as I was just waking up, I heard my husband screaming for me. I ran down to find him holding Yen as she was having a seizure. The kind of violent seizures that you see in movies. Her seizure lasted more than ten minutes. Her father holding her in the appropriate position and talking to her softly.

She was transported by paramedics to Overlake Hospital. The doctor told us that it’s not uncommon for young adults to have a seizure and everything looked fine. But just in case, he wanted her to see a cardiologist and a neurologist.

Within four days we had appointments with both specialists

On the 24th, we saw the cardiologist. He said everything looked normal to him and reiterated it was not uncommon for a young adult to have a seizure.

The next day we met with the neurologist. She took the full history and told us the facts. Young adults that have a seizure have less than 25% chance of having another one. If they have another one, the chances of recurrence go up to 80%. The team set us up for an EEG appointment for April 30th and the recommendation was for Yen to come in sleep-deprived.

She stayed up until her normal, weekend late time just after midnight and her father woke her up at 6:30 am because her EEG appointment was at 8:00 am. Exactly ten days after the first seizure I heard my other daughter calling for me because she had heard Yen crashing to the floor in her bedroom. She was having another seizure.

Following instructions, we comforted her through the seizure until she relaxed an agonizing eight minutes later. Still a little wobbly but lucid, we got her dressed, quickly. This time instead of an emergency room, my husband took her straight to the EEG room. She was early for her appointment, but they hooked her up as fast as possible.

Our early years of luck had run out

The doctor called us that afternoon. The good news was that she had the EEG so soon after her seizure, they were able to see the abnormal spike wave damage even though the physical signs of the seizure were gone.

Bad news – Early Onset of Adult Epilepsy and anti-seizure medication. We received the normal notices. She’s not allowed to drive (she doesn’t anyway), no swimming, no taking baths. We still had a little luck. Overlake Neuroscience Institute gave us a wonderful doctor who specialized in Epileptology – the study of all forms of epilepsy. I didn’t have to explain DiGeorge Syndrome to her, she already knew about it. She even gave me the most recent, and maybe rare, study on adults with DiGeorge Syndrome. I should have looked north of the border. It was from the University Health Network in Toronto.

Now my daughter is barely functioning as we try to find the right dose of Keppra. So far she has only been able to tolerate thirty percent of the suggested starting dose. Her body can’t handle it.

The young woman who in the last year had squashed the milestone of being able to argue and debate with me like a normal teenager was absent. Her desire to even work on her videos has been lost. Something she has been perfecting for years and takes such pride in—her YouTube channel—has disappeared.

We know that with the right medication she will be okay. It would take some time for the doctors to get her on the right medicine and dosage. Another uphill battle, but we are prepared for it and have already started making changes to accommodate this next stage in Yen’s life.

The Knight Valor slipping away

Yesterday, she went for her scheduled time to take video footage of the cats.  My daughter called me crying because the place was packed with people and she was panicking. There were no cats for her to work with and no quiet place for her wait. She was pleading with us to come to pick her up because she didn’t want to risk having a seizure in public. She would have completed her final seventeen hours in the past three weeks if she had not had the seizures.

Going through the list of things the Center offers for volunteer work was devastating.  Even just making a fleece blanket requires the ability to focus and she doesn’t have that now. What could we do to get her final seventeen hours for the Knight Valor award? With a great deal of help from Newport High School and Seattle Humane Society, it was decided she would do a charity fundraiser. Something she could do from her computer at home.

One Month Later

The donation drive to the Seattle Humane was a huge success and my daughter Yen achieved her hours and will receive her Knight Valor award. Thank you for contributing.

If you would like to contribute to the Seattle Humane center you can click here for their Wish List. They maintain that list as their needs change.

July 1, 2018 – Yen graduated from high school on June 22, 2018. She had her Knight Valor pin on her stole and a Knight Valor tassel on her cap.

By Shelly McGowan

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