Microcephaly

Giving birth to my son was such an emotional moment like all births. Being told shortly after that he has a genetic syndrome just by his appearance was even more emotional for me. A few months have passed, multiple specialist later the results were in. My son who we call Aj had a full whole genome sequence study on his DNA and it came back with no real answer. The changes that were found in his DNA had little to no evidence to support them and that made his condition a #RareDisease . I mean extremely rare! As the years came and went Aj was diagnosed with plenty of other medical disabilities. Some were more challenging than others but here are just a few to name; ADHD, Autism, #Microcephaly and more. As a mom I wanted to educate myself as much as possible so that I can help Aj get the best treatments, therapies and at home care I could. I also wanted Aj himself to understand that he had several disabilities. I encouraged Aj to strive like any other child and that his disabilities were limiting him in some areas but if he poured his heart into anything that his outcome would be limitless. I went to the library, book stores and online book shopping trying to find stories that were relatable and could help me explain Aj’s medical conditions without boring him. That was really hard I couldn’t find books that shared more than one condition at a time. So I wrote one! As fist time Author I became intrigued about helping parents, educators, physicians explain disabilities and life in general of a special needs child. I started with a series titled “Superstar Heroes” Aj goes to camp is the first book in the series I have self published this book in both English and Spanish. It is available on retail online book platforms. I have taken the negative and turned it into my positive story . I continue to educate myself, others, Advocate for children with special needs and also Interpret for Spanish speaking individuals so that they can better understand their conditions. Aj goes to camp features 6 diverse children, 6 disabilities with a common goal of inclusion. The six disabilities are Autism, #CerebralPalsy , #DownSyndrome , #HearingLoss /Deaf, #MuscularDystrophy , #RareDisease featuring Aj. All kids have the Cape-Abilities to be the greatest! Support us, spread the word and become a S.W.A.N kid too.

Hi, my name is Frances. I'm here because my infant daughter has a lot of cryptic medical diagnoses and we are still waiting for answers. She has global development delay, hypotonia and possible microcephaly.

#MightyTogether

It is hard to not feel anxiety in the face of the Covid-19 outbreak. The information we are getting about the virus is changing all the time and new regulations about where we are allowed to go or who we can see changes just as fast. Governments have been urging people to stay home, with some actually using police enforcement to make sure that people are following the regulations.

Yet, today I still hear about people gathering in places like beaches or keeping their restaurants open despite the rules. And to be honest, it makes me incredibly angry.

My beautiful daughter Daisy was born with Microcephaly, a rare condition that basically translates to small head. There is a wide range of issues that can appear, some being fairly mild to others being very sever.

And Daisy had the sever type. Her brain did not develop in the same way as the rest of us, causing her to have no independent movement, difficulty swallowing and sever developmental delays. She was the love of my life- bringing me incredible amounts of joy, even amidst the difficulties of taking care of her. She was medically fragile- with her difficulty swallowing, her lungs were often affected by bits of food or water going down the wrong tube. When she got a cold, it took a long time for her to recover and every winter season, we stayed close to home as to avoid germs.

But we couldn’t shut down completely and in the winter of 2015, Daisy contracted three different colds in a row, the last one landing her in hospital. She got RSV– Respiratory Syncytial Virus- which is actually very common as most children get it at some point, normally just presenting as a bad cold. But for Daisy, this incredibly common virus, was deadly. After two weeks in the hospital, Daisy passed away on her fourth Birthday- Jan. 3 2016.

Despite our best efforts to keep Daisy safe- the entire family got the flu shot each year- a common virus which passes around schools all over the world, killed my daughter. It was a regular year, with the regular colds and flus going around. But because of my daughter’s medical fragility, she got something that she could not fight and we were forced to say our final goodbyes.

The fact that Daisy probably got this virus from a schoolmate, kills my soul. She loved school and I never would have taken her out just because she could get a cold. BUT, if there was an outbreak of a new unknown virus, I would have been one of the first to isolate. And it would have been hard and I wouldn’t have liked it, but I would have done it.

The problem would be that, I wouldn’t be able to completely cut myself off from the world. My husband would have still gone to work. I would still need to go to the grocery store. And if either of us unknowingly came into contact with a virus, we would have easily passed it on to our baby girl. Hugs and cuddles were big in our family. And is something I long for today.

So, with the news about Covid-19 and the rapid spread, I’ve been thinking a lot about my Daisy girl and what it would have been like if she were still with us. It would have been doubly scary with her here, so though I miss her every second of every day, I am glad I do not have to worry about her safety.

But I do worry about the safety of others. For those who think this virus is no big deal or think that they are healthy so why should they worry- please, please listen when we ask you to stay home. It is not for your safety that we ask this of you. It is for the safety of those who will not survive if they are infected. Just because you do not think you’ll be affected by this virus doesn’t mean that you cannot spread the germs to people who would. We shop at the same grocery stores; we go to the same pharmacies. So, I beg you, if you are able to stay home- STAY HOME! If not for you, then for Daisy.

#ApertSyndrome
I am already part of a few wonderful groups on FB and am looking at The Mighty’s Apert community, to see how we can cross reference co-morbid conditions such as #Autism #ADHD , #Epilepsy , #Microcephaly , #Aparaxia of speech with other communities.

#comorbidity

Well I went for my 33 week checkup on myself and son
After they did a ultrasound I find out that he’ll be born with microcephaly
All I could do was cry because I feel like it’s not fair
I just don’t understand how did he get it when my other two children never had it

In 2003, when Bethany was born, we had no idea the journey that we would be on. I had a normal pregnancy and a normal delivery. Even though Bethany’s Apgar scores were fine, to me she didn’t look well. She looked pale and her lips were slightly blue. With testing we found out she had low oxygen levels in her blood and streaking on her lungs. So within a few hours after her birth she was transported to Cottage Hospital in Santa Barbara, California. And there she would stay for one month. She was having trouble keeping milk down with something like acid reflux, but it was more than that. After a test in the NICU, it was discovered that she had a malrotated stomach. So two weeks after she was born she had surgery to correct this. She also had a G-tube placed. But thankfully after her surgery she was able to eat normally and we never needed to use the G tube and it was eventually removed.

I really thought this was extent of her condition. I thought it was a matter of surgically correcting the situation, getting her oxygen and temperature levels back up and helping her eat. I didn’t fully understand what the doctor was explaining to me back then, that she had some type of (genetic) condition that he said we may or may not find the answer to. It took a while for this to sink in, even when we went to UCLA to meet with the genetic counselors I didn’t fully understand what was going on or what we were talking about. But when she was in the NICU, I thought she wasn’t going to make it. I thought she was going to die, though I didn’t know why.

I know God doesn’t make deals or at least I don’t think he does. But I prayed desperately back then. I told Him that I didn’t care what was wrong with Bethany that I would love her regardless and that I wanted to take care of her. If only He would let her live. And I believe He answered my prayer because today Bethany is 15 years old. We have been through so much with helping her in her development and getting genetic testing to find her diagnosis.

In 2015, after 12 years of searching for a diagnosis, I was called by Julie Jones of Greenwood Genetic Center in South Carolina and finally given a diagnosis. Bethany had Champ1 Gene Mutation, a rare genetic mutation that causes severe speech delay and #IntellectualDisability, among other things. It is new and extremely rare and there is not a lot that is known about it because it has not been researched.

“De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features” (Tanaka et al 2015 CHAMP1) The Champ 1 gene is located on chromosome 13q34. In other words, this gene mutation overall causes developmental delay.  Here are some additional characteristics people with Champ1 may have: hypotonia, #Microcephaly, severe speech impairment, short stature, may have seizures, congenital abnormalities. But the primary characteristics are an intellectual disability and severe speech impairment.

As of today, as far as I know, there are over 44 cases of Champ1 World wide.

Like Autism Spectrum, there are ranges within this condition of severity and some champs are even diagnosed as having Autism. Bethany has not had that diagnosis.

Bethany did not learn how to walk until she was eight years old and it has taken many years since for her to be more stable. She is nonverbal for the most part. She will occasionally say, “Mama” and “Uh- Uh”, which means no. She can walk with assistance, but is unstable at times and can easily be knocked off balance. But she is improving every day. She needs constant supervision and is incontinent and wears diapers. She is a very happy, loving daughter and we are so fortunate to have her in our lives. We love her very much.

I think it’s important to be careful how you interpret circumstances in your life. You may think: “What did I do to deserve this? Is God punishing me?” But I believe difficult times are not punishments. They are challenges to overcome. You have to dig down deep into your soul and find out what you are truly made of. I was a mess (and still am somedays), but I couldn’t have gotten through all this without my faith and trust in God, and the support, love, care, and prayers of family and friends. Life with a child with special needs is definitely challenging at times. Life is not what I thought it would be, but I find joy in the simplest of rewards and that is seeing Bethany’s spontaneous smile.

There is a Facebook support group for families with Champ1. You can go to www.champ1gene.com to learn more. This site is run by Stacey McPherson of Scotland.

There is also a new research organization that is a non-profit created by one of the families in the support group. You can go to www.champ1foundation.org to read more about this and or donate to help with the research and cure. This foundation was created by Jeffrey and Katis D’Angelo of Florida, USA. And I occasionally blog about Champ1 at: www.champ1champion.wordpress.com