We have been on an eventful journey with our baby Kaylee’s health these past months. On January 12th, all of problems started with Kaylee and her seizures. At first, it started with a blank stare, limp extremities, unresponsiveness and turning blue. We called the pediatrician on call and were told to go the hospital to be admitted. It was late at night and she already had 3 or 4 seizures. She even had one in front of the doctor and he confirmed they were definitely seizures not acid reflux related.
The following day she had 15 more seizures with some color changes. After completing some tests such as labs, metabolic workup, MRI, and EEG, it was confirmed that Kaylee was diagnosed with complex partial seizures. Later that night we started her with Keppra an anticonvulsant medication. We were discharged the next day and were told to keep a seizure log.
A week went by and Kaylee had another seizure episode where she turned blue again so we rushed her to the ER. We were there for 6 hours and they wanted to send us home with an apnea monitor. We refused to go home unless we had some answers, so they admitted us again so we can at least see our neurologist. The next day we had another EEG done and were devastated with the news.
On January 20th, Kaylee was diagnosed with infantile spasms. It was the worst day of our lives so we thought. The only thing we could do was pray for a miracle with our family. That night we were on our way to renew our faith with the lord.
I’m sure you are wondering what is infantile spasms. It sounds innocent enough, at first. Most people don’t think of epilepsy when they first hear of “Infantile Spasms” because the name is very deceiving. Infantile spasms are considered a catastrophic seizure disorder that is often resistant to medicine therapy, and usually results in mental retardation. Infantile spasms are the only seizure disorder where the seizures occur in clusters. They typically affect children from 4-7 months of age, but can occur earlier or later in life as well. These spasms can look either like an exaggerated startle reflex, where the arms flail outward or a “salam bow” where the trunk flexes forward and the arms and legs draw inward. In Kaylee’s case, they looked like startle reflexes accompanied with facial grimaces.
Infantile spasms usually have a characteristic EEG pattern called Hypsarrhythmia, a chaotic high voltage brain wave occurring all over the brain. The seizures typically occur when waking up or falling asleep. No one knows why. They also occur through out the day, but most often are triggered by drowsiness. The greatest goal with infantile spasms is gaining seizure control which comes differently to every child.
The most common first line of treatment is ACTH steroid therapy. Vigabatrin is popular in other countries, but in not FDA approved in the U.S. yet. The ketogenic diet also sometimes works for seizure control (it’s a high protein, low carb diet for kids). Surgery is considered last resort only if they can locate a focal point.Infantile spasms are mysterious. There are no rules or formulas. Little is known about infantile spasms as to what causes it or what cures it. Basically, it is trial and error, and some kids will never achieve real seizure control. If seizure control is achieved, some children can regain what they’ve lost developmentally due to the seizures…some stay frozen.
The outcome depends largely on what caused the spasms. Some children can function with such an abnormality, other cannot. An added variable is how much brain damage the seizures caused before seizure control is gained. Luckily children’s brains are incredibly resilient, so there is hope that some of that damage can be reversed. One other variable is the anti seizure meds that children have to remain on (usually for up 2 yrs) after seizure control is gained. Those drugs affect development greatly…their side effects include lack of coordination, sedation, hyperactivity, and etc…the list goes on and on.
On February 4th, another bombshell dropped on us. We were on our way to Texas Children’s hospital in Houston when we received a phone call from our neurologist. Kaylee was diagnosed with monosomy 1p36 based on abnormal chromosome study. Within that moment, we felt that all of our dreams for her had been shattered. We had already envisioned what Kaylee would be like before and after she was born. We thought she would be perfect just like her big sister Allison. Obviously after talking to the geneticist, this vision of ours had been completely thrown out the window for a normal child. Kaylee may be labeled with this syndrome but in our eyes she's our perfect miracle and we will treasure every bit of her.
The syndrome Kaylee was born with doesn’t have a common name such as Down Syndrome. It’s designated by the fact that a piece of genetic material is missing from her First Chromosome, the P section (as opposed to the Q section) in a portion known as 36. There are three severities, .1 being the most severe, .2 being in the middle and .3 which is the least severe. Our little one has a .3 deletion which means less genetic material is missing than in the .1 and .2 cases.
What does this all mean? Well, every cell in her body is missing some information crucial to our daughter’s development. Even a small portion of missing genetic info can lead to a surprising number of complications. Once we had a diagnosis for our daughter the doctors recommended we have her brain, heart, kidneys, liver, thyroid, hearing and eyesight all checked out. Children born with this genetic condition have trouble gaining weight, muscle strength, hitting developmental milestones, and learning to speak among other things. Some people with 1P36 deletion never learn to speak more than a few words in their entire lifetimes and some use sign language to communicate. A lot of them have trouble walking, but not all.
Kaylee has mild hearing loss in both ears possibly due to fluid in her ears. At this time, we need to monitor her ears and go from there. She answers to her name so I don't think she has a major issue with hearing. As far as her vision, she is farsighted so she needs to wear strong prescription (+4.5 & 5.0) glasses. Finding glass that fit her is the big issue right now....which we are greatful this is the biggest issue for now. We purchased two pairs of glasses because we didn't know what will work for her. So far the Solo Bambini work the best since they hug her face better. Although we like the way her lavender wire frames look, it doesn't seem to fit right. Unfortunately, she has a flat nasal bridge so they slip off her nose. We just need to invent some adorable, durable, and well fitted glasses that can grow with her face. If anyone have any ideas please don't hesistate to give us some input.
So far 1P36 deletions seem pretty rare too. One in 10,000 children is born with it. To contrast, I think the rate of Down syndrome cases is 1 in 300 births. So there aren’t any growth or height curves to measure against. It has only been discovered in the last 5-7 years due to technology advances. Therefore there are hardly any documented or published cases of this deletion. We have been told that there are only 100 documented cases in the world. Only one official study exists and it was done on 64 kids at Baylor. Most doctors have not even heard of this deletion as it is so newly discovered and many physicians have not had genetic training. Thus, not only will we need to educate friends and family, we will probably have to educate Kaylee’s other doctors as well.
Many of the questions we like answered simply can’t be right now. There’s just not enough data yet. That was one of the toughest things for us. So much was just unknown. Our geneticist gave us a poor prognosis. He told us that extensive therapy wouldn’t do any good. According to him, she would just reach milestones sooner, but will eventually even out with others without so much therapy. In our opinion if a doctor doesn’t have data on the capabilities of a child like Kaylee, then he can’t say “She’ll never be able to do this or that.” Needless to say, we got a second opinion in April. We found a geneticist in Houston, Dr. Bacino. He was the one who studied the 64 kids in 2003. We love him and his positive attitude. We are forever greatful to have a wonderful geneticist and neurologist for Kaylee. We need more doctors like them that give every parent some hope and compassion!
Kaylee’s potential is solely her own. So we have decided that we’ll help her to go as far as she possibly can. We will make sure she reaches her max potential. I think we’ll be amazed how much Kaylee will accomplish in her future…she’s a fighter…she’s our miracle baby.
Well as of February 7th, Kaylee was hospitalized so we could start the ACTH therapy. We gave her first injection that night and she reacted very well so far. At first she received the maximum dose (2 injections a day) 50 units daily for the first two weeks. Then she only received one injection (25 units) for the next two weeks. During her weaning phase we decreased her amt every 5 days until she was completly weaned off. Luckily, on day 10 we have been cluster free….Praise God!
As of Feb 22, we weaned her off to one injection a day. Kaylee experienced a moon face appearance…she had some chipmunk cheeks and gained 1 ½ lbs in one week, high blood pressure, irritability, and an eating machine. So far with lots of prayers, she remained spasm free during the weaning phase. Just to be prepared, our neurologist in Houston ordered Vigabatrin another 1st line treatment for infantile spasms. We hope we don’t have to use it but we have in hand just in case.
We traveled to Dallas the first week of March to see another neurologist who specialized in Vigabatrin. It was a long car ride with a cranky baby, but overall she did well. The visit with the neurologist was a waste of our time. He was very negative and had a horrible bedside manner. The one advise that we will take to heart is to prevent any unnecessary treatments. We need to take in consideration the benefits and risks of every situation whether it's a pet scan or another seizure medicine. I just wish that all doctors take a class for good manners like an etiquete class before they graduate. It's a shame that some parents actually listen to their negative crap. For me, it just motivated myself to prove them wrong. So far it working...Kaylee has been seizure free for 100 days as of May 27th....God is so Good!
We are taking each day - day by day. We know in our hearts Kaylee will be a happy and sweet little girl. She is most definitely a fighter. In the months of Feb-April she hasn’t been her usual self but after she was completely weaned off her developmental skills improve so much. She still continues with all of her therapies - PT, OT, Speech, Nutrition, Feeding therapy, developmental and behavioral. We will continue to test her to make sure all of her organs are functioning properly. We will most likely learn sign language as a family to communicate with her, hopefully she’ll be the one kid who can speak…miracles can happen!
It's been a tough road but I try my best to stay positive. Before Kaylee was diagnosed, I wasn't a religious person. Kaylee brought God and faith in my life which I'm forever greatful. That's how I cope everyday. When things get tough and I feel like giving up I just sit down in a quite place and read prayers out loud from my prayer book. It gives me strength, hope, and peace afterwards. I feel my doubts, worries, and stress just melt away. I know I'm not alone because God is always with me and I continue the rest of the day with feelings of hope and peace. I know that God has great plans for us and that everything will work out. I just have to have some patience and lots of trust in God.
But other days (which are winning out in number) I choose gratitude. I guide Kaylee along and remember that she probably shouldn't be alive - but she is. They 'say' she'll never walk alone or speak - but I believe she will. Kaylee's a happy baby..she smiles alot, great eye contact, and her laughs are contagious. And once I'm done thinking of how lucky we are for these accomplishments...I shift to remember how lucky we are for HER. How many other parents got to start their day with such clarity about life? How many other parents got to begin their day with such a keen understanding of what being a mom or dad is? How many other parents got to know - with such depth - the intimacy with God that is bred from simply being thankful that your child is breathing in and out. I start my day thanking God for Kaylee's very breath. Thanking Him for one more day with my daughter. Knowing that no second of my day will be wasted on thingsthat don't matter.
I pray that my older daughter Allison will grow up also learning the gift of gratitude - and the reality that even with a sick sister- life can be filled with joy.
Kaylee will progress and give us new pleasures each and every day of her life. We can only do our best he help her succeed, and that is exactly what we are going to do. She is our sweet angel sent to us directly from God and we will treat her as such for her entire life.
We know that Allison will be the best big sister. We have no doubt that she will succeed with anything she does. S he’s just so sweet and intelligent. Who knows Allison may be the one to figure out the gene mapping sequence and find reasons why deletions occur.
We love our family and friends so much. We know that this is only the beginning of our long journey. We are blessed to have such a wonderful support group with our yahoo 1p36 family. We can honestly say we are blessed to have such a solid foundation. We couldn’t do it without our friends and family. Thanks for all the prayers and support. We can’t even begin to thank you enough.
Peace be with you, please keep Kaylee in you prayers.
God bless you all,
Beau, Sherry, Allison and Kaylee
