Life isn't always what you make it. Sometimes life happens, and you are thrown into a world of crisis parenting and trying to keep your head above the water. When my daughter, Sarah, was born three years ago with a rare genetic condition called Apert Syndrome, I certainly felt that way - that everything was out of my control and that I'd simply have to resign myself to what may come. Then I realized that, despite the mysteries we all experience, we can and do have choices. My attitude matters every day. My thoughts and how I choose to live matters. In choosing to find meaning and purpose and value in the messes of special needs parenting, I have chosen victory over victimhood.
Miggy: Hi Jeannie, thank you so much for participating today and sharing your sweet daughter Sarah with us. Your daughter Sarah has Apert Syndrome, can you take me back to the day you knew your daughter would have special needs? Was this before birth during a routine ultrasound, shortly after birth or sometime later? And how long did it actually take to get her official diagnosis? Do you remember how you felt? Can you compare those first thoughts and feelings with how you feel now?
Jeannie: My husband, Ben, and I didn't know about Sarah's condition until she was born via c-section. It was a surreal moment to be lying on my back--unable to see Sarah--yet hearing her scream the typical newborn cry, feeling instantly relieved, then noticing something was wrong because the room fell eerily silent. I did have a normal pregnancy and three ultrasounds that never revealed anything, though I did opt out of any prenatal genetic testing. I did this, because I didn't want to risk miscarriage, and I also knew it wouldn't make a difference about our choice to love and raise Sarah, despite any potential diagnoses.
We received an informal diagnosis the day she was born. The pediatrician at the hospital printed some information from the internet for us to review and said tentatively, "I think your daughter might have Apert Syndrome." We had no idea what this was. Ben and I were shocked and dismayed. For a brief period, we both entertained the notion that maybe she would just need a couple of surgeries to separate her mitten hands, and we could move on to have a "normal" life. Once Ben started googling "Apert Syndrome," we saw extreme cases with severe facial deformities, and I remember thinking, "Is this what Sarah is going to look like? I don't think I can handle this!" Ben and I cried together in the hospital. We didn't know if she would live or die or what our lives would look like from that point onward.
The official diagnosis came about a month following Sarah's birth, after we were referred to a geneticist. She ran several blood tests and showed us the results that confirmed Apert. We were told frankly that it was a "genetic fluke" that caused her syndrome--neither my husband nor I have Apert anywhere in our family history.
Today, three years later, I am in a much different place. Not only have I accepted her diagnosis, but I can see the gift in her syndrome. It's not that I'd wish for anyone to have Apert or anything else that requires potential social ostracizing or a lifetime of surgeries and specialists, but Sarah is a very transparent little girl. People see her facial differences first, but then they are greeted by her warmth and her love. Somehow, without realizing it, Sarah penetrates people's hearts. She reaches into a person's soul and leaves them with the gift of joy. While I don't view Sarah in terms of limitations of her syndrome, I cannot imagine her without it. Life has taken on profoundly new and deeper meaning for me and our family.
Miggy: Will you please educate my readers about Apert syndrome and how Sarah’s needs affect your day-to-day life?
Jeannie: Without being clinical, Apert Syndrome is a rare genetic condition that affects the development of skull and facial bones, as well as the hands and feet. It's called a form of 'craniosynostosis,' which means there are other syndromes where the plates in the skull are also prematurely fused. It's estimated that between 1 in 80,000 to 1 in 250,000 live births result in Apert (stats vary widely). There are no stats on prognosis, life expectancy, or mortality rates.
People with Apert are visibly different. They have droopy eyes, a misshapen head, a small mouth and jaw with unusually shaped teeth, short arms, misshapen fingers and toes, and other conditions, such as cleft palate, speech impediments, heart murmurs, pulmonary issues, acne and bad cradle cap, etc. I could go on, but those are some of the basics. Apert must be monitored closely by several specialists, including a craniofacial, neuro- and orthopedic surgeon, physical/occupational (and sometimes speech) therapist, audiologist/ENT, dermatologist, cardiologist, pulmonologist, pediatric dentist/orthodontist/oral surgeon, ophthalmologist/optometrist, and a geneticist, to name several.
Daily life is somewhat typical. We do see specialists nearly every week, often out of town, which is very draining and exhausting for the family. Sarah has recently transitioned from our state's early childhood intervention program into special education preschool, where she continues to receive PT and OT on a weekly basis. We also take her to an independent agency for additional OT because of her hands and limited range of motion. Thankfully, we don't have any medical equipment or trachs, as many Apert families do. Sarah is pretty independent and very adaptable, with minor limitations.
Miggy: What are the biggest worries you face for Sarah? Conversely, what are your hopes and dreams for Sarah?
Jeannie: You know, as a mom, my biggest fear is how older kids are going to respond to Sarah. We've already encountered some kids who gawk at her and laugh or make rude comments. At times, I handle this well, but at other times, the mama bear in me comes out, and I'm enraged. Usually I become angry when the child says something derogatory with a parent present, and the parent says nothing at all or shoos the kid away. Otherwise, I try to talk to the child myself and explain that Sarah looks different, and s/he probably hasn't seen anyone like Sarah before, but she is a nice girl who enjoy a lot of the same things they do.
I used to have some business cards that briefly explained Apert Syndrome, and I'd pass them out to parents when their kids would make comments. These were very well received and broke the ice for an honest conversation. When I ran out, I forgot to reorder! Now I'm reminded to do that.
My dreams for Sarah are vast. I don't have any expectations, other than for her to adapt into her community and become independent. Now that we've met other people with Apert who are adults and live independently, have college degrees, travel, are employed, some married, etc., we know this is very possible for Sarah. She shows no sign of cognitive impairment, which some kids with Apert do, so we are hopeful that she will integrate into her community well and possibly get married or have a family and a career one day.
Miggy: Now for a lighter question, I’m a big believer in seeing the humor in life and learning to laugh, so have you ever had any funny conversations/moments you never imagined due to your special needs situations?
Jeannie: Sarah's a pretty candid little girl, so one day she asked me, "Why do we have a face?" I thought this was so cute and ironic! I don't think Sarah is aware of her condition yet, but she has met other people with Apert ranging from infants to adults. I can't think of anything hilarious, but Sarah is not shy and has no problem talking to people.
Miggy: How can people best approach or respond to Sarah? Is there something you wish other people knew so as to avoid awkward or hurtful situations?
Jeannie: The only thing that hurts or is awkward is when parents respond to Sarah in fear. Instead of approaching her (or me) with a smile, they rush off, as if they are embarrassed and uncomfortable. I realize this, because I was much like this before I had Sarah. But what I wish people would do (and some have) is just walk over with their child and ask, "Hey, my son/daughter noticed your little girl. Could we ask you some questions?" I am always relieved and happy to tell people about Sarah's condition. It's a rare thing, indeed, [when this happens], but I welcome it.
Miggy: I know from firsthand experience what a special role siblings can play in your special needs journey. Is there anything you’d like to share about your other children and their relationship to Sarah?
Jeannie: Felicity is a sensitive and protective older sister to Sarah. I have seen their friendship blossom, and it's beautiful. The most poignant part of Felicity's character development occurred about a year ago when she overheard a child laughing at Sarah and saying, "She has a scary face!" Felicity waltzed over to me, hands on her hips, and said, "My sister does NOT have a scary face!" I recognized this as a teaching moment, so I asked her, "Well, what can you say to someone if you hear them say Sarah has a scary face?" She shrugged, so I told her, "You can say, 'She's not scary, she's just different' and leave it at that." Since that day, Felicity has said this a few times to other kids. She is learning that differences are beautiful gifts, not something to be afraid of or repulsed by.
Miggy: If you could say something to the mom who just starting on this journey of Apert Syndrome, what would you say? What would you say to yourself if you could go back in time?
Jeannie: I'd say to reach out early to other Apert families. My husband and I received no support or counseling. We had to find our own way. Fortunately, I am a proactive and determined person, so I searched for blogs and websites and Facebook groups that would give us some semblance of community. Facebook has two active Apert groups, Apert U.S.A. and Apert Syndrome Awareness. From these groups, I have met some amazing families who have become our friends, and I've posted questions when I'm not sure what decision to make about Sarah's care. Everyone always has supportive, thoughtful, and insightful answers.
It's important to be proactive and advocate for your child. Don't cowtow to every specialist's suggestion, because they may or may not be right for your child. I've learned to research Apert on my own and be very vigilant in getting Sarah the best care available to her.
Miggy: Lastly, what is the biggest lesson you’ve learned since becoming Sarah's mom?
Jeannie: Life must be enjoyed and lived to the fullest in the present moment. It's all we've been given, and it can pass us by in a flash. Life is cruel, but there are hidden blessings in every aspect of suffering and struggle. Some people may be indifferent or hurtful to those who are disabled, but many are kind beyond understanding. Having a child with a rare disease is humbling and an honor.
Jeannie thank you so much for sharing your sweet family with us and especially you're precious Sarah. She is a doll! I think you described so well the pain of having a child being socially ostracized because of their differences when you said, "The only thing that hurts or is awkward is when parents respond to Sarah in fear. Instead of approaching her (or me) with a smile, they rush off, as if they are embarrassed and uncomfortable." We have had similar situations--a couple that were heartbreakingly difficult. Like you, I know I also didn't know what to do or how to best handle these situations before I had Lamp, which is why it's so important for me to spread this message of inclusion. I didn't know any better, but now I do. And as Oprah always says, "When you know better, you do better." Thanks again Jeannie for participating today and please give your girls a big squeeze from me.
To see more of Jeannie and Sarah's story you can visit their website here and watch a video of their story here.
As always if you or someone you know would like to participate in the Special Needs Spotlight please email me at thislittlemiggy at gmail dot com.
Have a great weekend!